ONTOLOGY REPORT - ANNOTATIONS |
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Term: | establishment of vesicle localization |
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Accession: | GO:0051650
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browse the term
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Definition: | The directed movement of a vesicle to a specific location. |
Synonyms: | exact_synonym: | establishment of vesicle localisation |
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Symbol |
Object Name |
Qualifiers
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G
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IKBKG
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inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
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involved_in
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IMP
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(PMID:24561039)
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UniProt |
PMID:24561039 |
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NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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G
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LIMK2
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LIM domain kinase 2
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involved_in
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IMP
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(PMID:25849865)
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UniProt |
PMID:25849865 |
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NCBI chr22:31,212,298...31,280,080
Ensembl chr22:31,212,239...31,280,080
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G
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RAB11A
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RAB11A, member RAS oncogene family
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involved_in
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IMP
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(PMID:24561039)
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UniProt |
PMID:24561039 |
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NCBI chr15:65,869,491...65,891,989
Ensembl chr15:65,726,054...65,891,989
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G
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RAB7A
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RAB7A, member RAS oncogene family
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acts_upstream_of_or_within_positive_effect
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 3:128,726,183...128,814,798
Ensembl chr 3:128,693,669...128,825,942
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G
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SNAPIN
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SNAP associated protein
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 1:153,658,654...153,661,852
Ensembl chr 1:153,658,703...153,661,852
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G
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SYT11
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synaptotagmin 11
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:155,859,567...155,885,199
Ensembl chr 1:155,859,567...155,885,199
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G
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TCIRG1
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T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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G
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TESK1
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testis associated actin remodelling kinase 1
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involved_in
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IMP
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(PMID:25849865)
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UniProt |
PMID:25849865 |
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NCBI chr 9:35,605,262...35,610,033
Ensembl chr 9:35,605,262...35,610,041
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Symbol |
Object Name |
Qualifiers
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G
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KIF1A
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kinesin family member 1A
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involved_in
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ISS
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ARUK-UCL |
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GO_REF:0000024 |
NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
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G
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KIF1B
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kinesin family member 1B
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involved_in
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ISO
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PMID:28426968
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ARUK-UCL |
PMID:28426968 |
RGD:13514087 |
NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
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G
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KIF1C
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kinesin family member 1C
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involved_in
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ISS
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ARUK-UCL |
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GO_REF:0000024 |
NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
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G
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KIF5B
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kinesin family member 5B
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involved_in
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ISS
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ARUK-UCL |
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GO_REF:0000024 |
NCBI chr10:32,009,015...32,056,425
Ensembl chr10:32,009,015...32,056,425
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G
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SYBU
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syntabulin
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involved_in
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ISO IEA
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RGD Ensembl |
PMID:17611281 |
GO_REF:0000107 RGD:13217407 |
NCBI chr 8:109,573,978...109,691,600
Ensembl chr 8:109,573,978...109,691,791
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Symbol |
Object Name |
Qualifiers
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G
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AP3B1
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adaptor related protein complex 3 subunit beta 1
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involved_in
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ISS IBA IEA
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UniProt GO_Central Ensembl |
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GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762
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G
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AP3B2
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adaptor related protein complex 3 subunit beta 2
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involved_in
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ISS IEA IBA
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UniProt Ensembl GO_Central |
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GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112
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G
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AP3D1
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adaptor related protein complex 3 subunit delta 1
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involved_in
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IEA IBA ISS
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Ensembl GO_Central UniProt |
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GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
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G
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AP3M1
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adaptor related protein complex 3 subunit mu 1
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr10:74,120,255...74,150,828
Ensembl chr10:74,120,255...74,150,842
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G
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AP3M2
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adaptor related protein complex 3 subunit mu 2
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 8:42,153,063...42,171,183
Ensembl chr 8:42,152,946...42,171,673
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G
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AP3S1
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adaptor related protein complex 3 subunit sigma 1
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 5:115,841,935...115,914,081
Ensembl chr 5:115,841,592...115,914,081
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G
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AP3S2
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adaptor related protein complex 3 subunit sigma 2
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr15:89,830,599...89,893,994
Ensembl chr15:89,830,599...89,894,638
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G
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BLOC1S1
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biogenesis of lysosomal organelles complex 1 subunit 1
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr12:55,716,046...55,719,703
Ensembl chr12:55,716,038...55,720,087
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G
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BLOC1S2
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biogenesis of lysosomal organelles complex 1 subunit 2
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involved_in
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IEA ISS
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Ensembl UniProt |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr10:100,273,278...100,286,680
Ensembl chr10:100,273,280...100,286,680
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G
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BLOC1S3
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biogenesis of lysosomal organelles complex 1 subunit 3
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr19:45,178,784...45,217,083
Ensembl chr19:45,178,784...45,216,933
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G
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BLOC1S4
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biogenesis of lysosomal organelles complex 1 subunit 4
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 4:6,716,174...6,717,664
Ensembl chr 4:6,716,174...6,717,664
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G
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BLOC1S5
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biogenesis of lysosomal organelles complex 1 subunit 5
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 6:8,013,567...8,064,414
Ensembl chr 6:8,013,567...8,064,396
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G
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BLOC1S6
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biogenesis of lysosomal organelles complex 1 subunit 6
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr15:45,587,123...45,609,716
Ensembl chr15:45,587,214...45,615,945
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G
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DTNBP1
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dystrobrevin binding protein 1
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involved_in
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ISS IBA IEA
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UniProt GO_Central Ensembl |
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GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr 6:15,522,807...15,663,058
Ensembl chr 6:15,522,807...15,663,058
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G
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KIF1A
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kinesin family member 1A
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involved_in
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ISO
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(PMID:7539720)
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SynGO |
PMID:7539720 |
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NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
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G
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KIF1B
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kinesin family member 1B
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involved_in
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ISS
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UniProt |
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GO_REF:0000024 |
NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
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G
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MADD
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MAP kinase activating death domain
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involved_in
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ISO
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(PMID:18849981)
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SynGO |
PMID:18849981 |
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NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
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G
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SNAPIN
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SNAP associated protein
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:153,658,654...153,661,852
Ensembl chr 1:153,658,703...153,661,852
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G
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TRIM46
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tripartite motif containing 46
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involved_in acts_upstream_of_or_within
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IBA IEA
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GO_Central Ensembl |
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GO_REF:0000033 GO_REF:0000107 |
NCBI chr 1:155,173,849...155,184,971
Ensembl chr 1:155,173,787...155,184,971
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Symbol |
Object Name |
Qualifiers
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G
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ITGA4
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integrin subunit alpha 4
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involved_in
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ISO IEA
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RGD Ensembl |
PMID:20124479 |
GO_REF:0000107 RGD:9698434 |
NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940
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Symbol |
Object Name |
Qualifiers
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G
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ARFGAP2
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ARF GTPase activating protein 2
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involved_in
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IBA
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GO_Central |
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GO_REF:0000033 |
NCBI chr11:47,164,301...47,176,879
Ensembl chr11:47,164,299...47,177,125
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G
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ARFGAP3
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ARF GTPase activating protein 3
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involved_in
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IBA
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GO_Central |
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GO_REF:0000033 |
NCBI chr22:42,796,502...42,857,273
Ensembl chr22:42,796,502...42,858,106
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G
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GBF1
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golgi brefeldin A resistant guanine nucleotide exchange factor 1
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involved_in
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IMP
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(PMID:12047556), (PMID:17956946)
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UniProt |
PMID:12047556 PMID:17956946 |
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NCBI chr10:102,230,643...102,382,896
Ensembl chr10:102,245,371...102,382,899
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G
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TMED10
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transmembrane p24 trafficking protein 10
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involved_in
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TAS
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(PMID:10761932)
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UniProt |
PMID:10761932 |
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NCBI chr14:75,131,469...75,176,612
Ensembl chr14:75,131,469...75,176,612
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G
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TMED2
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transmembrane p24 trafficking protein 2
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involved_in
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TAS
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(PMID:10761932)
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UniProt |
PMID:10761932 |
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NCBI chr12:123,584,552...123,598,582
Ensembl chr12:123,584,533...123,598,582
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G
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TMED9
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transmembrane p24 trafficking protein 9
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involved_in
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IMP IBA
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(PMID:18287528)
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UniProt GO_Central |
PMID:18287528 |
GO_REF:0000033 |
NCBI chr 5:177,592,203...177,597,242
Ensembl chr 5:177,592,203...177,597,242
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Symbol |
Object Name |
Qualifiers
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G
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TMED10
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transmembrane p24 trafficking protein 10
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involved_in
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IDA
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(PMID:10052452)
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UniProt |
PMID:10052452 |
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NCBI chr14:75,131,469...75,176,612
Ensembl chr14:75,131,469...75,176,612
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Symbol |
Object Name |
Qualifiers
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G
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CSNK1D
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casein kinase 1 delta
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involved_in
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TAS
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Reactome |
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Reactome:R-HSA-204005 |
NCBI chr17:82,239,019...82,273,750
Ensembl chr17:82,239,023...82,273,700
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G
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CUL3
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cullin 3
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involved_in
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IMP
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(PMID:22358839)
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UniProt |
PMID:22358839 |
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NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397
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G
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KLHL12
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kelch like family member 12
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involved_in
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IMP IBA
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(PMID:22358839), (PMID:27716508)
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UniProt GO_Central |
PMID:22358839 PMID:27716508 |
GO_REF:0000033 |
NCBI chr 1:202,891,120...202,928,599
Ensembl chr 1:202,891,116...202,928,636
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G
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PDCD6
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programmed cell death 6
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involved_in
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IMP
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(PMID:27716508)
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UniProt |
PMID:27716508 |
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NCBI chr 5:271,646...314,974
Ensembl chr 5:271,621...314,974
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G
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PEF1
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penta-EF-hand domain containing 1
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involved_in
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IMP IBA
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(PMID:27716508)
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UniProt GO_Central |
PMID:27716508 |
GO_REF:0000033 |
NCBI chr 1:31,629,866...31,644,876
Ensembl chr 1:31,629,866...31,644,896
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G
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PPP6C
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protein phosphatase 6 catalytic subunit
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involved_in
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TAS
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Reactome |
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Reactome:R-HSA-204005 |
NCBI chr 9:125,146,573...125,189,803
Ensembl chr 9:125,146,573...125,189,939
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G
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PREB
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prolactin regulatory element binding
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involved_in
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TAS
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Reactome |
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Reactome:R-HSA-204005 |
NCBI chr 2:27,130,756...27,134,636
Ensembl chr 2:27,130,756...27,134,666
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G
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SAR1A
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secretion associated Ras related GTPase 1A
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involved_in
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IMP IDA
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(PMID:23433038) (PMID:32358066)
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UniProt |
PMID:23433038 PMID:32358066 |
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NCBI chr10:70,147,289...70,170,514
Ensembl chr10:70,147,289...70,170,523
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G
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SAR1B
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secretion associated Ras related GTPase 1B
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involved_in
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IMP IDA
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(PMID:23433038) (PMID:32358066)
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UniProt |
PMID:23433038 PMID:32358066 |
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NCBI chr 5:134,601,149...134,632,828
Ensembl chr 5:134,601,149...134,649,271
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G
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TFG
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trafficking from ER to golgi regulator
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involved_in
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IEA
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InterPro |
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GO_REF:0000002 |
NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964
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G
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TMED10
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transmembrane p24 trafficking protein 10
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involved_in
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TAS
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(PMID:20427317)
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UniProt |
PMID:20427317 |
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NCBI chr14:75,131,469...75,176,612
Ensembl chr14:75,131,469...75,176,612
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G
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TMED2
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transmembrane p24 trafficking protein 2
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involved_in
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TAS
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(PMID:20427317)
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UniProt |
PMID:20427317 |
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NCBI chr12:123,584,552...123,598,582
Ensembl chr12:123,584,533...123,598,582
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G
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TRAPPC1
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trafficking protein particle complex subunit 1
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involved_in
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NAS
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(PMID:27066478)
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ComplexPortal |
PMID:27066478 |
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NCBI chr17:7,930,345...7,931,999
Ensembl chr17:7,930,345...7,932,123
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G
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TRAPPC11
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trafficking protein particle complex subunit 11
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involved_in
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NAS
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(PMID:27066478)
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ComplexPortal |
PMID:27066478 |
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NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594
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G
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TRAPPC12
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trafficking protein particle complex subunit 12
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involved_in
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NAS
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(PMID:27066478)
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ComplexPortal |
PMID:27066478 |
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NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094
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G
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TRAPPC2
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trafficking protein particle complex subunit 2
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involved_in
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NAS
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(PMID:27066478)
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ComplexPortal |
PMID:27066478 |
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NCBI chr X:13,712,245...13,734,620
Ensembl chr X:13,712,244...13,734,635
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G
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TRAPPC2B
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trafficking protein particle complex subunit 2B
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involved_in
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NAS
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(PMID:27066478)
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ComplexPortal |
PMID:27066478 |
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NCBI chr19:57,363,551...57,365,405
Ensembl chr19:57,363,551...57,365,405
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G
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TRAPPC2L
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trafficking protein particle complex subunit 2L
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involved_in
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NAS
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(PMID:27066478)
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ComplexPortal |
PMID:27066478 |
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NCBI chr16:88,856,220...88,862,678
Ensembl chr16:88,856,220...88,862,686
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G
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TRAPPC3
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trafficking protein particle complex subunit 3
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involved_in
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NAS
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(PMID:27066478)
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ComplexPortal |
PMID:27066478 |
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NCBI chr 1:36,136,572...36,156,053
Ensembl chr 1:36,136,570...36,156,053
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G
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TRAPPC4
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trafficking protein particle complex subunit 4
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involved_in
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NAS
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(PMID:27066478)
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ComplexPortal |
PMID:27066478 |
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NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454
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G
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TRAPPC5
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trafficking protein particle complex subunit 5
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involved_in
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NAS
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(PMID:27066478)
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ComplexPortal |
PMID:27066478 |
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NCBI chr19:7,680,833...7,687,703
Ensembl chr19:7,680,833...7,687,703
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G
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TRAPPC6A
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trafficking protein particle complex subunit 6A
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involved_in
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NAS
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(PMID:27066478)
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ComplexPortal |
PMID:27066478 |
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NCBI chr19:45,162,933...45,178,237
Ensembl chr19:45,162,928...45,178,237
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G
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TRAPPC8
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trafficking protein particle complex subunit 8
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involved_in
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NAS
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(PMID:27066478)
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ComplexPortal |
PMID:27066478 |
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NCBI chr18:31,829,197...31,943,128
Ensembl chr18:31,829,197...31,953,136
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Symbol |
Object Name |
Qualifiers
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Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
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G
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KIF1A
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kinesin family member 1A
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involved_in
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ISS
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UniProt |
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GO_REF:0000024 |
NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
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G
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PPFIA2
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PTPRF interacting protein alpha 2
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involved_in
|
IMP
|
(PMID:30021165)
|
UniProt |
PMID:30021165 |
|
NCBI chr12:81,257,975...81,759,350
Ensembl chr12:81,257,975...81,759,553
|
|
G
|
SYT4
|
synaptotagmin 4
|
involved_in
|
ISS IEA
|
|
UniProt Ensembl |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr18:43,267,892...43,277,490
Ensembl chr18:43,267,892...43,277,535
|
|
G
|
TANC2
|
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
|
involved_in
|
ISS
|
|
UniProt |
|
GO_REF:0000024 |
NCBI chr17:62,966,235...63,427,703
Ensembl chr17:62,966,235...63,427,703
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
UNC13A
|
unc-13 homolog A
|
NOT|involved_in
|
ISO
|
(PMID:26575293)
|
SynGO-UCL |
PMID:26575293 |
|
NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365
|
|
G
|
UNC13B
|
unc-13 homolog B
|
NOT|involved_in
|
ISO
|
(PMID:26575293)
|
SynGO-UCL |
PMID:26575293 |
|
NCBI chr 9:35,162,009...35,405,335
Ensembl chr 9:35,161,992...35,405,338
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
CADPS
|
calcium dependent secretion activator
|
involved_in
|
IEA
|
|
InterPro |
|
GO_REF:0000002 |
NCBI chr 3:62,398,348...62,875,416
Ensembl chr 3:62,398,346...62,875,416
|
|
G
|
CADPS2
|
calcium dependent secretion activator 2
|
involved_in
|
IEA
|
|
InterPro |
|
GO_REF:0000002 |
NCBI chr 7:122,318,411...122,886,460
Ensembl chr 7:122,318,411...122,886,759
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
UNC13A
|
unc-13 homolog A
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365
|
|
G
|
UNC13B
|
unc-13 homolog B
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 9:35,162,009...35,405,335
Ensembl chr 9:35,161,992...35,405,338
|
|
G
|
UNC13C
|
unc-13 homolog C
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr15:53,837,602...54,633,440
Ensembl chr15:53,978,201...54,628,707
|
|
G
|
UNC13D
|
unc-13 homolog D
|
involved_in
|
ISO
|
PMID:26575293
|
SynGO-UCL |
PMID:26575293 |
RGD:12050107 |
NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
RAB17
|
RAB17, member RAS oncogene family
|
involved_in
|
ISS IEA
|
|
UniProt Ensembl |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 2:237,574,326...237,590,734
Ensembl chr 2:237,574,322...237,601,614
|
|
G
|
SHROOM2
|
shroom family member 2
|
involved_in
|
ISS
|
|
HGNC-UCL |
|
GO_REF:0000024 |
NCBI chr X:9,786,429...9,949,443
Ensembl chr X:9,786,429...9,949,443
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
COPS5
|
COP9 signalosome subunit 5
|
involved_in
|
IDA
|
(PMID:19246649)
|
FlyBase |
PMID:19246649 |
|
NCBI chr 8:67,043,079...67,062,133
Ensembl chr 8:67,043,079...67,083,783
|
|
G
|
RAB11A
|
RAB11A, member RAS oncogene family
|
involved_in
|
IMP
|
(PMID:15634213)
|
UniProt |
PMID:15634213 |
|
NCBI chr15:65,869,491...65,891,989
Ensembl chr15:65,726,054...65,891,989
|
|
G
|
RAB27A
|
RAB27A, member RAS oncogene family
|
involved_in
|
IMP
|
(PMID:23092844)
|
UniProt |
PMID:23092844 |
|
NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113
|
|
G
|
STEAP3
|
STEAP3 metalloreductase
|
acts_upstream_of_or_within
|
ISO
|
(PMID:18617898)
|
MGI |
PMID:18617898 |
|
NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
|
|
G
|
TSG101
|
tumor susceptibility 101
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr11:18,480,311...18,526,942
Ensembl chr11:18,468,336...18,526,951
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
ARL6
|
ARF like GTPase 6
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
|
|
G
|
ASIP
|
agouti signaling protein
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
|
|
G
|
BBS2
|
Bardet-Biedl syndrome 2
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
|
|
G
|
BBS5
|
Bardet-Biedl syndrome 5
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
|
|
G
|
BBS7
|
Bardet-Biedl syndrome 7
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
|
|
G
|
BLOC1S3
|
biogenesis of lysosomal organelles complex 1 subunit 3
|
involved_in
|
IDA
|
(PMID:17182842)
|
UniProt |
PMID:17182842 |
|
NCBI chr19:45,178,784...45,217,083
Ensembl chr19:45,178,784...45,216,933
|
|
G
|
BLOC1S5
|
biogenesis of lysosomal organelles complex 1 subunit 5
|
involved_in
|
IDA
|
(PMID:17182842)
|
UniProt |
PMID:17182842 |
|
NCBI chr 6:8,013,567...8,064,414
Ensembl chr 6:8,013,567...8,064,396
|
|
G
|
BLOC1S6
|
biogenesis of lysosomal organelles complex 1 subunit 6
|
involved_in
|
IDA
|
(PMID:17182842)
|
UniProt |
PMID:17182842 |
|
NCBI chr15:45,587,123...45,609,716
Ensembl chr15:45,587,214...45,615,945
|
|
G
|
DCTN1
|
dynactin subunit 1
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
|
|
G
|
DCTN2
|
dynactin subunit 2
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr12:57,530,051...57,547,192
Ensembl chr12:57,529,633...57,547,224
|
|
G
|
GPR143
|
G protein-coupled receptor 143
|
involved_in
|
IDA
|
(PMID:19717472)
|
UniProt |
PMID:19717472 |
|
NCBI chr X:9,725,346...9,778,602
Ensembl chr X:9,725,346...9,786,297
|
|
G
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
involved_in
|
ISO IEA
|
positive regulation of bidirectional melanosome transport along microtubules
|
RGD Ensembl |
PMID:15753041 |
GO_REF:0000107 RGD:2293208 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
|
|
G
|
MKKS
|
MKKS centrosomal shuttling protein
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
|
|
G
|
MLPH
|
melanophilin
|
involved_in
|
NAS
|
(PMID:11980908)
|
UniProt |
PMID:11980908 |
|
NCBI chr 2:237,486,410...237,555,322
Ensembl chr 2:237,485,428...237,555,322
|
|
G
|
MREG
|
melanoregulin
|
involved_in acts_upstream_of_or_within
|
IEA IBA
|
|
InterPro Ensembl GO_Central |
|
GO_REF:0000002 GO_REF:0000033 GO_REF:0000107 |
NCBI chr 2:215,939,308...216,034,096
Ensembl chr 2:215,942,584...216,034,096
|
|
G
|
MYO5A
|
myosin VA
|
involved_in acts_upstream_of_or_within
|
NAS ISO
|
(PMID:11980908) (PMID:11266473) (PMID:24721909) (PMID:9548375) (PMID:9133672)
|
UniProt MGI |
PMID:9133672 PMID:9548375 PMID:11266473 PMID:11980908 PMID:24721909 |
|
NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132
|
|
G
|
RAB11A
|
RAB11A, member RAS oncogene family
|
involved_in
|
ISS IBA IEA
|
|
UniProt GO_Central Ensembl |
|
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr15:65,869,491...65,891,989
Ensembl chr15:65,726,054...65,891,989
|
|
G
|
RAB11B
|
RAB11B, member RAS oncogene family
|
involved_in
|
IEA ISS
|
|
Ensembl UniProt |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434
|
|
G
|
RAB17
|
RAB17, member RAS oncogene family
|
involved_in
|
IEA ISS
|
|
Ensembl UniProt |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 2:237,574,326...237,590,734
Ensembl chr 2:237,574,322...237,601,614
|
|
G
|
RAB1A
|
RAB1A, member RAS oncogene family
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 2:65,086,854...65,130,106
Ensembl chr 2:65,070,696...65,130,331
|
|
G
|
RAB27A
|
RAB27A, member RAS oncogene family
|
involved_in acts_upstream_of_or_within
|
NAS IEA
|
(PMID:11980908)
|
UniProt Ensembl |
PMID:11980908 |
GO_REF:0000107 |
NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
KIFC1
|
kinesin family member C1
|
acts_upstream_of_or_within
|
ISO
|
(PMID:17360972)
|
MGI |
PMID:17360972 |
|
NCBI chr 6:33,391,461...33,409,896
Ensembl chr 6:33,391,823...33,409,896
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
CNIH2
|
cornichon family AMPA receptor auxiliary protein 2
|
involved_in
|
ISO
|
PMID:24094107
|
UniProt |
PMID:24094107 |
RGD:10400859 |
NCBI chr11:66,278,175...66,284,206
Ensembl chr11:66,278,175...66,285,301
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
SYT4
|
synaptotagmin 4
|
involved_in
|
ISO
|
PMID:20303854
|
ParkinsonsUK-UCL |
PMID:20303854 |
RGD:11541109 |
NCBI chr18:43,267,892...43,277,490
Ensembl chr18:43,267,892...43,277,535
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
ATP9A
|
ATPase phospholipid transporting 9A (putative)
|
involved_in
|
IMP
|
(PMID:30947313)
|
UniProt |
PMID:30947313 |
|
NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390
|
|
G
|
PRKN
|
parkin RBR E3 ubiquitin protein ligase
|
involved_in
|
IMP
|
(PMID:26911690)
|
ParkinsonsUK-UCL |
PMID:26911690 |
|
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
|
|
G
|
RAB7A
|
RAB7A, member RAS oncogene family
|
involved_in
|
IMP
|
(PMID:26911690)
|
ParkinsonsUK-UCL |
PMID:26911690 |
|
NCBI chr 3:128,726,183...128,814,798
Ensembl chr 3:128,693,669...128,825,942
|
|
G
|
VPS4B
|
vacuolar protein sorting 4 homolog B
|
involved_in
|
IMP
|
(PMID:24105262)
|
UniProt |
PMID:24105262 |
|
NCBI chr18:63,389,190...63,422,476
Ensembl chr18:63,389,190...63,422,483
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
UNC13A
|
unc-13 homolog A
|
involved_in
|
ISS
|
|
UniProt |
|
GO_REF:0000024 |
NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365
|
|
G
|
UNC13B
|
unc-13 homolog B
|
involved_in
|
ISS
|
|
UniProt |
|
GO_REF:0000024 |
NCBI chr 9:35,162,009...35,405,335
Ensembl chr 9:35,161,992...35,405,338
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
BBS7
|
Bardet-Biedl syndrome 7
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
|
|
G
|
MKKS
|
MKKS centrosomal shuttling protein
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
MYO7A
|
myosin VIIA
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
|
|
G
|
RAB27A
|
RAB27A, member RAS oncogene family
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
FYCO1
|
FYVE and coiled-coil domain autophagy adaptor 1
|
involved_in
|
IMP IBA
|
(PMID:20100911)
|
UniProt GO_Central |
PMID:20100911 |
GO_REF:0000033 |
NCBI chr 3:45,917,903...45,995,824
Ensembl chr 3:45,917,903...45,995,824
|
|
G
|
KIF13A
|
kinesin family member 13A
|
involved_in
|
ISS
|
|
UniProt |
|
GO_REF:0000024 |
NCBI chr 6:17,759,126...17,987,635
Ensembl chr 6:17,759,183...17,987,635
|
|
G
|
KIF3A
|
kinesin family member 3A
|
involved_in
|
TAS
|
(PMID:16298999)
|
BHF-UCL |
PMID:16298999 |
|
NCBI chr 5:132,688,812...132,737,546
Ensembl chr 5:132,692,628...132,737,638
|
|
G
|
KIF3B
|
kinesin family member 3B
|
involved_in
|
TAS
|
(PMID:16298999)
|
BHF-UCL |
PMID:16298999 |
|
NCBI chr20:32,277,651...32,335,011
Ensembl chr20:32,277,651...32,335,011
|
|
G
|
KIF5B
|
kinesin family member 5B
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr10:32,009,015...32,056,425
Ensembl chr10:32,009,015...32,056,425
|
|
G
|
KIFAP3
|
kinesin associated protein 3
|
involved_in
|
TAS
|
(PMID:16298999)
|
BHF-UCL |
PMID:16298999 |
|
NCBI chr 1:169,921,329...170,085,184
Ensembl chr 1:169,921,326...170,085,208
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
MAP2
|
microtubule associated protein 2
|
involved_in
|
ISS
|
|
ARUK-UCL |
|
GO_REF:0000024 |
NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
|
|
G
|
MECP2
|
methyl-CpG binding protein 2
|
|
ISO
|
|
RGD |
PMID:22127389 |
RGD:12790715 |
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
|
|
G
|
TRIM46
|
tripartite motif containing 46
|
involved_in
|
ISS
|
|
ARUK-UCL |
|
GO_REF:0000024 |
NCBI chr 1:155,173,849...155,184,971
Ensembl chr 1:155,173,787...155,184,971
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
BORCS5
|
BLOC-1 related complex subunit 5
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr12:12,357,078...12,471,233
Ensembl chr12:12,357,078...12,471,233
|
|
G
|
MAP2
|
microtubule associated protein 2
|
involved_in
|
ISS
|
|
ARUK-UCL |
|
GO_REF:0000024 |
NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
SYT4
|
synaptotagmin 4
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr18:43,267,892...43,277,490
Ensembl chr18:43,267,892...43,277,535
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
ATP13A2
|
ATPase cation transporting 13A2
|
involved_in
|
IMP IDA IEA
|
(PMID:25392495) (PMID:24603074)
|
ParkinsonsUK-UCL Ensembl |
PMID:24603074 PMID:25392495 |
GO_REF:0000107 |
NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
|
|
G
|
CHMP2A
|
charged multivesicular body protein 2A
|
involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr19:58,551,566...58,555,105
Ensembl chr19:58,551,452...58,555,105
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|
G
|
HGS
|
hepatocyte growth factor-regulated tyrosine kinase substrate
|
involved_in
|
IMP
|
(PMID:24105262)
|
UniProt |
PMID:24105262 |
|
NCBI chr17:81,684,011...81,702,121
Ensembl chr17:81,683,326...81,703,138
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|
G
|
IFNG
|
interferon gamma
|
involved_in
|
HDA
|
(PMID:11487543)
|
UniProt |
PMID:11487543 |
|
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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|
G
|
MYO5B
|
myosin VB
|
|
ISO
|
|
RGD |
PMID:18984164 |
RGD:11533643 |
NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164
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|
G
|
PDCD6IP
|
programmed cell death 6 interacting protein
|
involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr 3:33,798,630...33,869,703
Ensembl chr 3:33,798,571...33,869,707
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G
|
RAB7A
|
RAB7A, member RAS oncogene family
|
involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr 3:128,726,183...128,814,798
Ensembl chr 3:128,693,669...128,825,942
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|
G
|
SDC1
|
syndecan 1
|
involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr 2:20,200,797...20,225,475
Ensembl chr 2:20,200,797...20,225,433
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G
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SDC4
|
syndecan 4
|
involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr20:45,325,288...45,348,424
Ensembl chr20:45,325,288...45,348,424
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G
|
SDCBP
|
syndecan binding protein
|
involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr 8:58,553,261...58,582,858
Ensembl chr 8:58,552,924...58,582,859
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|
G
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SMPD3
|
sphingomyelin phosphodiesterase 3
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr16:68,358,327...68,448,508
Ensembl chr16:68,358,327...68,448,508
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|
G
|
SNF8
|
SNF8 subunit of ESCRT-II
|
involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr17:48,929,316...48,944,842
Ensembl chr17:48,929,316...48,944,842
|
|
G
|
STAM
|
signal transducing adaptor molecule
|
involved_in
|
IMP
|
(PMID:24105262)
|
UniProt |
PMID:24105262 |
|
NCBI chr10:17,644,151...17,716,824
Ensembl chr10:17,644,151...17,716,824
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|
G
|
TSG101
|
tumor susceptibility 101
|
involved_in
|
IMP
|
(PMID:22660413), (PMID:24105262)
|
UniProt |
PMID:22660413 PMID:24105262 |
|
NCBI chr11:18,480,311...18,526,942
Ensembl chr11:18,468,336...18,526,951
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|
G
|
VPS4A
|
vacuolar protein sorting 4 homolog A
|
involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,336...69,326,939
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|
G
|
VPS4B
|
vacuolar protein sorting 4 homolog B
|
involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr18:63,389,190...63,422,476
Ensembl chr18:63,389,190...63,422,483
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|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
CDH3
|
cadherin 3
|
involved_in
|
IMP
|
(PMID:23334344)
|
UniProt |
PMID:23334344 |
|
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
MECP2
|
methyl-CpG binding protein 2
|
|
ISO
|
|
RGD |
PMID:22127389 |
RGD:12790715 |
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
STK11
|
serine/threonine kinase 11
|
involved_in
|
IMP IEA IBA
|
(PMID:24643070)
|
UniProt Ensembl GO_Central |
PMID:24643070 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
SYT6
|
synaptotagmin 6
|
involved_in
|
ISO
|
PMID:26216953
|
SynGO |
PMID:26216953 |
RGD:13702162 |
NCBI chr 1:114,089,292...114,153,869
Ensembl chr 1:114,089,291...114,153,880
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|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
CADPS
|
calcium dependent secretion activator
|
involved_in
|
ISO
|
(PMID:25719439)
|
SynGO |
PMID:25719439 |
|
NCBI chr 3:62,398,348...62,875,416
Ensembl chr 3:62,398,346...62,875,416
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G
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RIMS1
|
regulating synaptic membrane exocytosis 1
|
involved_in
|
ISO
|
(PMID:31679900)
|
SynGO |
PMID:31679900 |
|
NCBI chr 6:71,886,550...72,403,145
Ensembl chr 6:71,886,550...72,403,150
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G
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SNAP25
|
synaptosome associated protein 25
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
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|
G
|
STXBP1
|
syntaxin binding protein 1
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
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|
G
|
STXBP2
|
syntaxin binding protein 2
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873
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|
G
|
STXBP3
|
syntaxin binding protein 3
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 1:108,746,674...108,809,523
Ensembl chr 1:108,746,674...108,809,523
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|
G
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SYT10
|
synaptotagmin 10
|
involved_in
|
ISO
|
(PMID:28683263)
|
SynGO |
PMID:28683263 |
|
NCBI chr12:33,374,238...33,439,819
Ensembl chr12:33,374,238...33,439,819
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|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
MAPK15
|
mitogen-activated protein kinase 15
|
involved_in
|
IMP
|
(PMID:24618899)
|
UniProt |
PMID:24618899 |
|
NCBI chr 8:143,716,349...143,722,458
Ensembl chr 8:143,716,340...143,722,458
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|
G
|
PREB
|
prolactin regulatory element binding
|
involved_in
|
IEA IBA IDA
|
(PMID:32358066)
|
UniProt GO_Central |
PMID:32358066 |
GO_REF:0000033 GO_REF:0000104 |
NCBI chr 2:27,130,756...27,134,636
Ensembl chr 2:27,130,756...27,134,666
|
|
G
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SAR1A
|
secretion associated Ras related GTPase 1A
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr10:70,147,289...70,170,514
Ensembl chr10:70,147,289...70,170,523
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|
G
|
SAR1B
|
secretion associated Ras related GTPase 1B
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 5:134,601,149...134,632,828
Ensembl chr 5:134,601,149...134,649,271
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|
G
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SEC16A
|
SEC16 homolog A, endoplasmic reticulum export factor
|
involved_in
|
IMP
|
(PMID:17005010)
|
UniProt |
PMID:17005010 |
|
NCBI chr 9:136,440,105...136,484,740
Ensembl chr 9:136,440,096...136,483,759
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|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
BAIAP3
|
BAI1 associated protein 3
|
involved_in
|
IDA IBA
|
(PMID:28626000)
|
UniProt GO_Central |
PMID:28626000 |
GO_REF:0000033 |
NCBI chr16:1,333,645...1,349,439
Ensembl chr16:1,333,638...1,349,439
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|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
MAPK8
|
mitogen-activated protein kinase 8
|
involved_in
|
ISO
|
PMID:29166604
|
UniProt |
PMID:29166604 |
RGD:15023486 |
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
CHMP3
|
charged multivesicular body protein 3
|
NOT|involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr 2:86,503,430...86,563,443
Ensembl chr 2:86,503,430...86,563,479
|
|
G
|
CHMP6
|
charged multivesicular body protein 6
|
NOT|involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr17:80,991,841...81,000,133
Ensembl chr17:80,991,598...81,009,517
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|
G
|
RNF103-CHMP3
|
RNF103-CHMP3 readthrough
|
NOT|involved_in
|
IMP
|
(PMID:22660413)
|
UniProt |
PMID:22660413 |
|
NCBI chr 2:86,503,430...86,721,122
Ensembl chr 2:86,505,668...86,721,122
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
GPR143
|
G protein-coupled receptor 143
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr X:9,725,346...9,778,602
Ensembl chr X:9,725,346...9,786,297
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|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
SYT4
|
synaptotagmin 4
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr18:43,267,892...43,277,490
Ensembl chr18:43,267,892...43,277,535
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
P2RX7
|
purinergic receptor P2X 7
|
involved_in
|
ISO
|
PMID:24037803
|
SynGO |
PMID:24037803 |
RGD:13702177 |
NCBI chr12:121,132,876...121,188,032
Ensembl chr12:121,132,819...121,188,032
|
|
G
|
RAB11B
|
RAB11B, member RAS oncogene family
|
involved_in
|
ISO
|
PMID:14627637
|
SynGO |
PMID:14627637 |
RGD:8554199 |
NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434
|
|
G
|
RAB3A
|
RAB3A, member RAS oncogene family
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr19:18,196,784...18,204,042
Ensembl chr19:18,196,784...18,204,042
|
|
G
|
UNC13B
|
unc-13 homolog B
|
involved_in
|
ISO
|
PMID:31679900
|
SynGO |
PMID:31679900 |
RGD:155230690 |
NCBI chr 9:35,162,009...35,405,335
Ensembl chr 9:35,161,992...35,405,338
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|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
SLC2A4
|
solute carrier family 2 member 4
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
LRRK2
|
leucine rich repeat kinase 2
|
involved_in
|
TAS IEA ISS
|
(PMID:21563316)
|
ParkinsonsUK-UCL Ensembl |
PMID:21563316 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
|
|
G
|
PICALM
|
phosphatidylinositol binding clathrin assembly protein
|
|
ISO
|
|
RGD |
PMID:18842885 |
RGD:8554167 |
NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882
|
|
G
|
PINK1
|
PTEN induced kinase 1
|
involved_in
|
TAS
|
(PMID:21563316)
|
ParkinsonsUK-UCL |
PMID:21563316 |
|
NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
|
|
G
|
PRKN
|
parkin RBR E3 ubiquitin protein ligase
|
involved_in
|
NAS
|
(PMID:21563316)
|
ParkinsonsUK-UCL |
PMID:21563316 |
|
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
KIF1A
|
kinesin family member 1A
|
involved_in
|
ISS IBA
|
|
ARUK-UCL GO_Central |
|
GO_REF:0000024 GO_REF:0000033 |
NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
|
|
G
|
KIF1B
|
kinesin family member 1B
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
|
|
G
|
KIF1C
|
kinesin family member 1C
|
involved_in
|
ISS IBA
|
|
ARUK-UCL GO_Central |
|
GO_REF:0000024 GO_REF:0000033 |
NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
|
|
G
|
KIF5A
|
kinesin family member 5A
|
involved_in
|
ISS
|
|
ARUK-UCL |
|
GO_REF:0000024 |
NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
|
|
G
|
KIF5B
|
kinesin family member 5B
|
involved_in
|
ISS
|
|
ARUK-UCL |
|
GO_REF:0000024 |
NCBI chr10:32,009,015...32,056,425
Ensembl chr10:32,009,015...32,056,425
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
ARF1
|
ARF GTPase 1
|
|
ISO
|
|
RGD |
PMID:9590176 |
RGD:9684955 |
NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
AP1G1
|
adaptor related protein complex 1 subunit gamma 1
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201
|
|
G
|
AP1S2
|
adaptor related protein complex 1 subunit sigma 2
|
involved_in
|
ISO
|
(PMID:20203623)
|
SynGO |
PMID:20203623 |
|
NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931
|
|
G
|
AP3D1
|
adaptor related protein complex 3 subunit delta 1
|
involved_in
|
IBA IEA
|
|
GO_Central Ensembl |
|
GO_REF:0000033 GO_REF:0000107 |
NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
|
|
G
|
BTBD8
|
BTB domain containing 8
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 1:92,080,345...92,184,723
Ensembl chr 1:92,080,305...92,184,725
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
DNM1
|
dynamin 1
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
|
|
G
|
DNM2
|
dynamin 2
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
|
|
G
|
DNM3
|
dynamin 3
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 1:171,841,498...172,418,466
Ensembl chr 1:171,817,887...172,418,466
|
|
G
|
MX1
|
MX dynamin like GTPase 1
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr21:41,420,558...41,459,214
Ensembl chr21:41,420,020...41,470,071
|
|
G
|
MX2
|
MX dynamin like GTPase 2
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr21:41,362,027...41,409,393
Ensembl chr21:41,361,999...41,409,393
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
AP3B2
|
adaptor related protein complex 3 subunit beta 2
|
involved_in
|
NAS
|
(PMID:15537701)
|
ComplexPortal |
PMID:15537701 |
|
NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112
|
|
G
|
AP3D1
|
adaptor related protein complex 3 subunit delta 1
|
involved_in
|
NAS
|
(PMID:15537701)
|
ComplexPortal |
PMID:15537701 |
|
NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
|
|
G
|
AP3M2
|
adaptor related protein complex 3 subunit mu 2
|
involved_in
|
NAS
|
(PMID:15537701)
|
ComplexPortal |
PMID:15537701 |
|
NCBI chr 8:42,153,063...42,171,183
Ensembl chr 8:42,152,946...42,171,673
|
|
G
|
AP3S1
|
adaptor related protein complex 3 subunit sigma 1
|
involved_in
|
NAS
|
(PMID:15537701)
|
ComplexPortal |
PMID:15537701 |
|
NCBI chr 5:115,841,935...115,914,081
Ensembl chr 5:115,841,592...115,914,081
|
|
G
|
AP3S2
|
adaptor related protein complex 3 subunit sigma 2
|
involved_in
|
NAS
|
(PMID:15537701)
|
ComplexPortal |
PMID:15537701 |
|
NCBI chr15:89,830,599...89,893,994
Ensembl chr15:89,830,599...89,894,638
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
NLGN1
|
neuroligin 1
|
involved_in
|
ISS IEA
|
|
UniProt Ensembl |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 3:173,395,952...174,294,372
Ensembl chr 3:173,396,284...174,294,372
|
|
G
|
PSEN1
|
presenilin 1
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
|
|
G
|
SCRIB
|
scribble planar cell polarity protein
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 8:143,790,925...143,815,773
Ensembl chr 8:143,790,920...143,815,773
|
|
G
|
SEPTIN5
|
septin 5
|
involved_in
|
TAS
|
(PMID:10321247)
|
UniProt |
PMID:10321247 |
|
NCBI chr22:19,714,503...19,723,319
Ensembl chr22:19,714,503...19,724,224
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
CDK5
|
cyclin dependent kinase 5
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
|
|
G
|
CTNNB1
|
catenin beta 1
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
|
|
G
|
DNM2
|
dynamin 2
|
involved_in
|
NAS
|
(PMID:11583995)
|
UniProt |
PMID:11583995 |
|
NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
|
|
G
|
DPYSL2
|
dihydropyrimidinase like 2
|
|
ISO
|
|
RGD |
PMID:19755421 |
RGD:2316240 |
NCBI chr 8:26,514,031...26,658,175
Ensembl chr 8:26,514,031...26,658,178
|
|
G
|
FGFR2
|
fibroblast growth factor receptor 2
|
acts_upstream_of_or_within
|
ISO
|
(PMID:17418794)
|
MGI |
PMID:17418794 |
|
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G
|
KIF5A
|
kinesin family member 5A
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
|
|
G
|
KIF5B
|
kinesin family member 5B
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr10:32,009,015...32,056,425
Ensembl chr10:32,009,015...32,056,425
|
|
G
|
KIF5C
|
kinesin family member 5C
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759
|
|
G
|
KIFC2
|
kinesin family member C2
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 8:144,466,049...144,474,202
Ensembl chr 8:144,466,043...144,474,202
|
|
G
|
LIN7A
|
lin-7 homolog A, crumbs cell polarity complex component
|
involved_in acts_upstream_of_or_within
|
IBA IEA
|
|
GO_Central Ensembl |
|
GO_REF:0000033 GO_REF:0000107 |
NCBI chr12:80,792,520...80,937,934
Ensembl chr12:80,792,520...80,937,934
|
|
G
|
LIN7B
|
lin-7 homolog B, crumbs cell polarity complex component
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr19:49,114,370...49,118,460
Ensembl chr19:49,114,324...49,118,460
|
|
G
|
LIN7C
|
lin-7 homolog C, crumbs cell polarity complex component
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr11:27,494,418...27,506,769
Ensembl chr11:27,494,418...27,506,769
|
|
G
|
MYLK2
|
myosin light chain kinase 2
|
|
ISO
|
Mlck controls the movemnet of synaptic vesicles
|
RGD |
PMID:15980175 |
RGD:1600508 |
NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689
|
|
G
|
NLGN1
|
neuroligin 1
|
involved_in
|
ISO
|
PMID:19628693
|
CACAO |
PMID:19628693 |
RGD:8554760 |
NCBI chr 3:173,395,952...174,294,372
Ensembl chr 3:173,396,284...174,294,372
|
|
G
|
PDZD11
|
PDZ domain containing 11
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr X:70,286,595...70,289,927
Ensembl chr X:70,281,118...70,290,514
|
|
G
|
RAB27A
|
RAB27A, member RAS oncogene family
|
involved_in
|
TAS
|
(PMID:21563316)
|
ParkinsonsUK-UCL |
PMID:21563316 |
|
NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113
|
|
G
|
RAB3A
|
RAB3A, member RAS oncogene family
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr19:18,196,784...18,204,042
Ensembl chr19:18,196,784...18,204,042
|
|
G
|
SNAPIN
|
SNAP associated protein
|
involved_in
|
IMP IBA
|
(PMID:18167355)
|
UniProt GO_Central |
PMID:18167355 |
GO_REF:0000033 |
NCBI chr 1:153,658,654...153,661,852
Ensembl chr 1:153,658,703...153,661,852
|
|
G
|
SNCA
|
synuclein alpha
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
|
|
G
|
SPG11
|
SPG11 vesicle trafficking associated, spatacsin
|
involved_in
|
IMP IBA
|
(PMID:24794856)
|
UniProt GO_Central |
PMID:24794856 |
GO_REF:0000033 |
NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
|
|
G
|
SYNJ1
|
synaptojanin 1
|
involved_in acts_upstream_of_or_within
|
ISS ISO
|
(PMID:10535736)
|
ParkinsonsUK-UCL MGI |
PMID:10535736 |
GO_REF:0000024 |
NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040
|
|
G
|
TMEM230
|
transmembrane protein 230
|
involved_in
|
IMP IBA
|
(PMID:27270108)
|
UniProt GO_Central |
PMID:27270108 |
GO_REF:0000033 |
NCBI chr20:5,059,116...5,113,076
Ensembl chr20:5,068,232...5,113,087
|
|
G
|
TOR1A
|
torsin family 1 member A
|
involved_in
|
IMP
|
(PMID:18167355)
|
UniProt |
PMID:18167355 |
|
NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
CCDC186
|
coiled-coil domain containing 186
|
involved_in acts_upstream_of_or_within
|
IBA IEA
|
|
GO_Central Ensembl |
|
GO_REF:0000033 GO_REF:0000107 |
NCBI chr10:114,120,862...114,174,220
Ensembl chr10:114,120,862...114,174,232
|
|
G
|
F8A1
|
coagulation factor VIII associated 1
|
involved_in
|
ISS IBA
|
|
UniProt GO_Central |
|
GO_REF:0000024 GO_REF:0000033 |
NCBI chr X:154,886,355...154,888,061
Ensembl chr X:154,886,355...154,888,061
|
|
G
|
F8A2
|
coagulation factor VIII associated 2
|
involved_in
|
ISS IBA
|
|
UniProt GO_Central |
|
GO_REF:0000024 GO_REF:0000033 |
NCBI chr X:155,382,095...155,383,801
Ensembl chr X:155,382,095...155,383,801
|
|
G
|
F8A3
|
coagulation factor VIII associated 3
|
involved_in
|
ISS IBA
|
|
UniProt GO_Central |
|
GO_REF:0000024 GO_REF:0000033 |
NCBI chr X:155,456,914...155,458,620
Ensembl chr X:155,456,914...155,458,620
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
AHI1
|
Abelson helper integration site 1
|
acts_upstream_of_or_within
|
ISO
|
(PMID:20592197)
|
MGI |
PMID:20592197 |
|
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
|
|
G
|
AP1M2
|
adaptor related protein complex 1 subunit mu 2
|
involved_in
|
TAS
|
(PMID:10338135)
|
PINC |
PMID:10338135 |
|
NCBI chr19:10,572,671...10,587,312
Ensembl chr19:10,572,671...10,587,315
|
|
G
|
CHP1
|
calcineurin like EF-hand protein 1
|
|
ISO
|
|
RGD |
PMID:8626580 |
RGD:724726 |
NCBI chr15:41,231,268...41,281,887
Ensembl chr15:41,230,839...41,281,887
|
|
G
|
CLASP1
|
cytoplasmic linker associated protein 1
|
involved_in
|
IMP
|
(PMID:24859005)
|
UniProt |
PMID:24859005 |
|
NCBI chr 2:121,337,776...121,649,462
Ensembl chr 2:121,337,776...121,649,476
|
|
G
|
CLASP2
|
cytoplasmic linker associated protein 2
|
involved_in
|
IMP
|
(PMID:24859005)
|
UniProt |
PMID:24859005 |
|
NCBI chr 3:33,496,245...33,718,254
Ensembl chr 3:33,496,245...33,718,356
|
|
G
|
IRAG2
|
inositol 1,4,5-triphosphate receptor associated 2
|
involved_in
|
TAS
|
(PMID:8021504)
|
PINC |
PMID:8021504 |
|
NCBI chr12:24,997,575...25,108,335
Ensembl chr12:25,004,342...25,108,335
|
|
G
|
MAP4K2
|
mitogen-activated protein kinase kinase kinase kinase 2
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr11:64,784,918...64,803,214
Ensembl chr11:64,784,918...64,803,241
|
|
G
|
MYH9
|
myosin heavy chain 9
|
involved_in
|
ISO
|
(PMID:18504258)
|
CAFA |
PMID:18504258 |
|
NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
|
|
G
|
SNAP23
|
synaptosome associated protein 23
|
involved_in
|
TAS
|
(PMID:8663154)
|
PINC |
PMID:8663154 |
|
NCBI chr15:42,491,129...42,533,058
Ensembl chr15:42,491,233...42,545,356
|
|
G
|
SNAP29
|
synaptosome associated protein 29
|
involved_in
|
TAS
|
(PMID:9852078)
|
PINC |
PMID:9852078 |
|
NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214
|
|
G
|
YKT6
|
YKT6 v-SNARE homolog
|
involved_in
|
IDA
|
(PMID:9211930)
|
HGNC-UCL |
PMID:9211930 |
|
NCBI chr 7:44,200,978...44,214,294
Ensembl chr 7:44,200,959...44,214,294
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
TMED10
|
transmembrane p24 trafficking protein 10
|
involved_in
|
IEA ISS
|
|
Ensembl HGNC-UCL |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr14:75,131,469...75,176,612
Ensembl chr14:75,131,469...75,176,612
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
AP1AR
|
adaptor related protein complex 1 associated regulatory protein
|
involved_in
|
IDA IBA IEA
|
(PMID:19706427)
|
UniProt GO_Central InterPro |
PMID:19706427 |
GO_REF:0000002 GO_REF:0000033 |
NCBI chr 4:112,231,787...112,273,110
Ensembl chr 4:112,231,740...112,273,110
|
|
G
|
WIPI1
|
WD repeat domain, phosphoinositide interacting 1
|
involved_in
|
IDA
|
(PMID:15020712)
|
UniProt |
PMID:15020712 |
|
NCBI chr17:68,421,281...68,457,496
Ensembl chr17:68,420,948...68,457,513
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
CEP19
|
centrosomal protein 19
|
involved_in
|
IMP IBA
|
(PMID:28659385)
|
UniProt GO_Central |
PMID:28659385 |
GO_REF:0000033 |
NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
NAGLU
|
N-acetyl-alpha-glucosaminidase
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449
|
|
G
|
TRAPPC1
|
trafficking protein particle complex subunit 1
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr17:7,930,345...7,931,999
Ensembl chr17:7,930,345...7,932,123
|
|
G
|
TRAPPC10
|
trafficking protein particle complex subunit 10
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552
|
|
G
|
TRAPPC11
|
trafficking protein particle complex subunit 11
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594
|
|
G
|
TRAPPC12
|
trafficking protein particle complex subunit 12
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094
|
|
G
|
TRAPPC13
|
trafficking protein particle complex subunit 13
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr 5:65,625,027...65,666,233
Ensembl chr 5:65,624,789...65,666,233
|
|
G
|
TRAPPC2
|
trafficking protein particle complex subunit 2
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr X:13,712,245...13,734,620
Ensembl chr X:13,712,244...13,734,635
|
|
G
|
TRAPPC2B
|
trafficking protein particle complex subunit 2B
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr19:57,363,551...57,365,405
Ensembl chr19:57,363,551...57,365,405
|
|
G
|
TRAPPC2L
|
trafficking protein particle complex subunit 2L
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr16:88,856,220...88,862,678
Ensembl chr16:88,856,220...88,862,686
|
|
G
|
TRAPPC3
|
trafficking protein particle complex subunit 3
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr 1:36,136,572...36,156,053
Ensembl chr 1:36,136,570...36,156,053
|
|
G
|
TRAPPC4
|
trafficking protein particle complex subunit 4
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454
|
|
G
|
TRAPPC5
|
trafficking protein particle complex subunit 5
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr19:7,680,833...7,687,703
Ensembl chr19:7,680,833...7,687,703
|
|
G
|
TRAPPC6A
|
trafficking protein particle complex subunit 6A
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr19:45,162,933...45,178,237
Ensembl chr19:45,162,928...45,178,237
|
|
G
|
TRAPPC6B
|
trafficking protein particle complex subunit 6B
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr14:39,147,814...39,170,333
Ensembl chr14:39,147,811...39,170,532
|
|
G
|
TRAPPC8
|
trafficking protein particle complex subunit 8
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr18:31,829,197...31,943,128
Ensembl chr18:31,829,197...31,953,136
|
|
G
|
TRAPPC9
|
trafficking protein particle complex subunit 9
|
involved_in
|
NAS
|
(PMID:27066478)
|
ComplexPortal |
PMID:27066478 |
|
NCBI chr 8:139,727,725...140,458,579
Ensembl chr 8:139,727,725...140,458,579
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
EXOC1
|
exocyst complex component 1
|
involved_in
|
NAS
|
(PMID:22420621)
|
ComplexPortal |
PMID:22420621 |
|
NCBI chr 4:55,853,648...55,905,086
Ensembl chr 4:55,853,648...55,905,086
|
|
G
|
EXOC2
|
exocyst complex component 2
|
involved_in
|
NAS
|
(PMID:22420621)
|
ComplexPortal |
PMID:22420621 |
|
NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139
|
|
G
|
EXOC3
|
exocyst complex component 3
|
involved_in
|
NAS
|
(PMID:22420621)
|
ComplexPortal |
PMID:22420621 |
|
NCBI chr 5:443,176...467,290
Ensembl chr 5:443,175...471,937
|
|
G
|
EXOC4
|
exocyst complex component 4
|
involved_in
|
IEA NAS
|
(PMID:22420621)
|
InterPro ComplexPortal UniProt |
PMID:22420621 |
GO_REF:0000002 GO_REF:0000104 |
NCBI chr 7:133,253,078...134,100,951
Ensembl chr 7:133,253,072...134,067,137
|
|
G
|
EXOC5
|
exocyst complex component 5
|
involved_in
|
NAS
|
(PMID:22420621)
|
ComplexPortal |
PMID:22420621 |
|
NCBI chr14:57,200,507...57,268,905
Ensembl chr14:57,200,507...57,268,905
|
|
G
|
EXOC6
|
exocyst complex component 6
|
involved_in
|
IEA NAS
|
(PMID:22420621)
|
InterPro ComplexPortal UniProt |
PMID:22420621 |
GO_REF:0000002 GO_REF:0000104 |
NCBI chr10:92,826,831...93,059,490
Ensembl chr10:92,826,831...93,059,493
|
|
G
|
EXOC6B
|
exocyst complex component 6B
|
involved_in
|
IEA NAS
|
(PMID:22420621)
|
InterPro ComplexPortal UniProt |
PMID:22420621 |
GO_REF:0000002 GO_REF:0000104 |
NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041
|
|
G
|
EXOC7
|
exocyst complex component 7
|
involved_in
|
NAS
|
(PMID:22420621)
|
ComplexPortal |
PMID:22420621 |
|
NCBI chr17:76,081,016...76,103,787
Ensembl chr17:76,081,016...76,121,576
|
|
G
|
EXOC8
|
exocyst complex component 8
|
involved_in
|
NAS
|
(PMID:22420621)
|
ComplexPortal |
PMID:22420621 |
|
NCBI chr 1:231,332,753...231,337,852
Ensembl chr 1:231,332,753...231,337,852
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
STARD3
|
StAR related lipid transfer domain containing 3
|
involved_in
|
IDA IBA
|
(PMID:24105263), (PMID:28377464)
|
UniProt GO_Central |
PMID:24105263 PMID:28377464 |
GO_REF:0000033 |
NCBI chr17:39,637,144...39,664,201
Ensembl chr17:39,637,090...39,664,201
|
|
G
|
STARD3NL
|
STARD3 N-terminal like
|
involved_in
|
IDA IBA
|
(PMID:24105263)
|
UniProt GO_Central |
PMID:24105263 |
GO_REF:0000033 |
NCBI chr 7:38,178,245...38,230,669
Ensembl chr 7:38,178,245...38,230,670
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
C17orf75
|
chromosome 17 open reading frame 75
|
involved_in
|
IDA IBA IEA
|
(PMID:29426865)
|
UniProt GO_Central InterPro |
PMID:29426865 |
GO_REF:0000002 GO_REF:0000033 |
NCBI chr17:32,328,441...32,350,014
Ensembl chr17:32,324,565...32,350,023
|
|
G
|
FAM91A1
|
family with sequence similarity 91 member A1
|
involved_in
|
IDA IBA
|
(PMID:29426865)
|
UniProt GO_Central |
PMID:29426865 |
GO_REF:0000033 |
NCBI chr 8:123,768,439...123,815,452
Ensembl chr 8:123,768,439...123,815,452
|
|
G
|
TBC1D23
|
TBC1 domain family member 23
|
involved_in
|
IDA IBA
|
(PMID:29426865)
|
UniProt GO_Central |
PMID:29426865 |
GO_REF:0000033 |
NCBI chr 3:100,260,992...100,325,238
Ensembl chr 3:100,260,992...100,325,251
|
|
G
|
TRIP11
|
thyroid hormone receptor interactor 11
|
involved_in
|
IMP
|
(PMID:25473115)
|
UniProt |
PMID:25473115 |
|
NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
|
|
G
|
WDR11
|
WD repeat domain 11
|
involved_in
|
IDA
|
(PMID:29426865)
|
UniProt |
PMID:29426865 |
|
NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
ACTN4
|
actinin alpha 4
|
involved_in
|
IMP
|
(PMID:25918384)
|
UniProt |
PMID:25918384 |
|
NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589
|
|
G
|
FNBP1L
|
formin binding protein 1 like
|
involved_in
|
IDA
|
(PMID:20730103)
|
BHF-UCL |
PMID:20730103 |
|
NCBI chr 1:93,448,118...93,554,661
Ensembl chr 1:93,448,118...93,554,661
|
|
G
|
MYO1C
|
myosin IC
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr17:1,464,186...1,492,686
Ensembl chr17:1,464,186...1,492,686
|
|
G
|
MYO5A
|
myosin VA
|
involved_in
|
ISO IMP
|
(PMID:24006491)
|
RGD UniProt |
PMID:11470781 PMID:16190983 PMID:24006491 |
RGD:1600832 RGD:2306437 |
NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132
|
|
G
|
WASL
|
WASP like actin nucleation promoting factor
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr 7:123,681,943...123,749,003
Ensembl chr 7:123,681,943...123,749,003
|
|
|
|
Symbol |
Object Name |
Qualifiers
|
Evidence |
Notes |
Source |
PubMed Reference(s) |
RGD Reference(s) |
Position |
|
G
|
BICDL1
|
BICD family like cargo adaptor 1
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr12:119,989,236...120,094,495
Ensembl chr12:119,989,236...120,094,494
|
|
G
|
BICDL2
|
BICD family like cargo adaptor 2
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:3,027,682...3,036,944
Ensembl chr16:3,027,682...3,036,944
|
|
G
|
CDR2L
|
cerebellar degeneration related protein 2 like
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr17:74,987,632...75,005,800
Ensembl chr17:74,987,632...75,005,800
|
|
G
|
CLN3
|
CLN3 lysosomal/endosomal transmembrane protein, battenin
|
involved_in
|
IMP
|
(PMID:22261744)
|
UniProt |
PMID:22261744 |
|
NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575
|
|
G
|
DYNC1I1
|
dynein cytoplasmic 1 intermediate chain 1
|
involved_in
|
IMP ISS
|
(PMID:24561039)
|
UniProt HGNC-UCL |
PMID:24561039 |
GO_REF:0000024 |
NCBI chr 7:95,772,554...96,110,322
Ensembl chr 7:95,772,506...96,110,322
|
|
G
|
FBXW11
|
F-box and WD repeat domain containing 11
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873
|
|
G
|
HAP1
|
huntingtin associated protein 1
|
involved_in acts_upstream_of_or_within
|
IBA IEA
|
|
GO_Central Ensembl |
|
GO_REF:0000033 GO_REF:0000107 |
NCBI chr17:41,717,739...41,734,646
Ensembl chr17:41,717,742...41,734,644
|
|
G
|
HTT
|
huntingtin
|
involved_in acts_upstream_of_or_within
|
IMP ISO
|
(PMID:20515468) (PMID:15242649)
|
UniProt MGI |
PMID:15242649 PMID:20515468 |
|
NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
|
|
G
|
KIF16B
|
kinesin family member 16B
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr20:16,272,104...16,573,448
Ensembl chr20:16,272,104...16,573,448
|
|
G
|
KIF28P
|
kinesin family member 28, pseudogene
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 1:246,771,878...246,784,760
Ensembl chr 1:246,771,837...246,839,611
|
|
G
|
KIF5B
|
kinesin family member 5B
|
involved_in acts_upstream_of_or_within
|
IDA IEA ISS
|
(PMID:28426968)
|
ARUK-UCL Ensembl HGNC-UCL |
PMID:28426968 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr10:32,009,015...32,056,425
Ensembl chr10:32,009,015...32,056,425
|
|
G
|
KIFC1
|
kinesin family member C1
|
acts_upstream_of_or_within
|
ISO
|
(PMID:17360972)
|
MGI |
PMID:17360972 |
|
NCBI chr 6:33,391,461...33,409,896
Ensembl chr 6:33,391,823...33,409,896
|
|
G
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
involved_in
|
ISO IEA
|
positive regulation of bidirectional melanosome transport along microtubules
|
RGD Ensembl |
PMID:15753041 |
GO_REF:0000107 RGD:2293208 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
|
|
G
|
NDE1
|
nudE neurodevelopment protein 1
|
involved_in acts_upstream_of_or_within
|
IBA IEA
|
|
GO_Central Ensembl |
|
GO_REF:0000033 GO_REF:0000107 |
NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
|
|
G
|
NDEL1
|
nudE neurodevelopment protein 1 like 1
|
involved_in acts_upstream_of_or_within
|
IBA IEA
|
|
GO_Central Ensembl |
|
GO_REF:0000033 GO_REF:0000107 |
NCBI chr17:8,413,131...8,474,328
Ensembl chr17:8,413,131...8,490,411
|
|
G
|
PAFAH1B1
|
platelet activating factor acetylhydrolase 1b regulatory subunit 1
|
involved_in acts_upstream_of_or_within
|
ISS IEA IBA
|
(PMID:10729324)
|
BHF-UCL Ensembl GO_Central |
PMID:10729324 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615
|
|
G
|
PRKCZ
|
protein kinase C zeta
|
|
ISO
|
Slc10a1/Ntcp-containing early endosomes
|
RGD |
PMID:16734659 |
RGD:1642664 |
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
|
|
G
|
RAB1A
|
RAB1A, member RAS oncogene family
|
involved_in
|
IMP
|
(PMID:21303926)
|
UniProt |
PMID:21303926 |
|
NCBI chr 2:65,086,854...65,130,106
Ensembl chr 2:65,070,696...65,130,331
|
|
G
|
RASGRP1
|
RAS guanyl releasing protein 1
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
|
|
G
|
SPG11
|
SPG11 vesicle trafficking associated, spatacsin
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
|
|
G
|
TRAK1
|
trafficking kinesin protein 1
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,624...42,225,890
|
|
G
|
TRAK2
|
trafficking kinesin protein 2
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 2:201,377,207...201,451,458
Ensembl chr 2:201,377,207...201,451,500
|
|
G
|
VAMP7
|
vesicle associated membrane protein 7
|
involved_in
|
ISO
|
PMID:22705394
|
UniProt |
PMID:22705394 |
RGD:10047362 |
NCBI chr X:155,881,345...155,943,769 NCBI chr Y:57,067,865...57,130,289
Ensembl chr Y:57,067,865...57,130,289 Ensembl chr X:57,067,865...57,130,289
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Term paths to the root
|