RGP1 (RGP1 homolog, RAB6A GEF complex partner 1) - Rat Genome Database

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Gene: RGP1 (RGP1 homolog, RAB6A GEF complex partner 1) Homo sapiens
Analyze
Symbol: RGP1
Name: RGP1 homolog, RAB6A GEF complex partner 1
RGD ID: 1323378
HGNC Page HGNC:21965
Description: Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in negative regulation of protein catabolic process and retrograde transport, endosome to Golgi. Located in cytosol and plasma membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA0258; RAB6A-GEF complex partner protein 2; retrograde Golgi transport protein RGP1 homolog; RGP1 retrograde golgi transport homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,749,287 - 35,790,428 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,749,287 - 35,758,585 (+)EnsemblGRCh38hg38GRCh38
GRCh37935,749,284 - 35,758,582 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,739,203 - 35,742,871 (+)NCBINCBI36Build 36hg18NCBI36
Celera935,682,828 - 35,686,815 (+)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,704,897 - 35,708,883 (+)NCBIHuRef
CHM1_1935,749,681 - 35,753,668 (+)NCBICHM1_1
T2T-CHM13v2.0935,769,968 - 35,779,266 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:9039502   PMID:15489334   PMID:16751776   PMID:17207965   PMID:18187620   PMID:19490893   PMID:21873635   PMID:22458338   PMID:23091056   PMID:25342443   PMID:25416956   PMID:28514442  
PMID:29568061   PMID:32296183   PMID:32513696   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34432599   PMID:35007762   PMID:36217029  


Genomics

Comparative Map Data
RGP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,749,287 - 35,790,428 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,749,287 - 35,758,585 (+)EnsemblGRCh38hg38GRCh38
GRCh37935,749,284 - 35,758,582 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,739,203 - 35,742,871 (+)NCBINCBI36Build 36hg18NCBI36
Celera935,682,828 - 35,686,815 (+)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,704,897 - 35,708,883 (+)NCBIHuRef
CHM1_1935,749,681 - 35,753,668 (+)NCBICHM1_1
T2T-CHM13v2.0935,769,968 - 35,779,266 (+)NCBIT2T-CHM13v2.0
Rgp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,578,735 - 43,587,487 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl443,578,715 - 43,587,487 (+)EnsemblGRCm39 Ensembl
GRCm38443,578,735 - 43,587,487 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,578,715 - 43,587,487 (+)EnsemblGRCm38mm10GRCm38
MGSCv37443,591,607 - 43,600,359 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36443,600,029 - 43,608,587 (+)NCBIMGSCv36mm8
Celera443,612,724 - 43,621,477 (+)NCBICelera
Cytogenetic Map4A5NCBI
cM Map423.05NCBI
Rgp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8562,630,253 - 62,638,872 (+)NCBIGRCr8
mRatBN7.2557,834,467 - 57,843,087 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl557,834,629 - 57,843,086 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx559,814,307 - 59,822,927 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0561,633,123 - 61,641,743 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0561,604,593 - 61,613,213 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0559,080,290 - 59,088,777 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl559,080,765 - 59,088,523 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0563,604,879 - 63,613,371 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4560,057,647 - 60,061,853 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1560,057,331 - 60,063,791 (+)NCBI
Celera556,415,170 - 56,423,657 (+)NCBICelera
Cytogenetic Map5q22NCBI
Rgp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955472550,198 - 554,038 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955472550,198 - 554,038 (-)NCBIChiLan1.0ChiLan1.0
RGP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21188,804,618 - 88,839,274 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1988,810,556 - 88,845,035 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0935,600,213 - 35,641,371 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1936,402,999 - 36,411,625 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl936,403,447 - 36,411,420 (+)Ensemblpanpan1.1panPan2
RGP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11152,276,151 - 52,280,482 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1152,277,189 - 52,281,639 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1150,843,619 - 50,853,283 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01153,340,989 - 53,350,395 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1153,341,692 - 53,350,658 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11151,885,532 - 51,895,196 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01151,869,058 - 51,878,720 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01152,571,203 - 52,580,867 (+)NCBIUU_Cfam_GSD_1.0
Rgp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947167,194,778 - 167,203,354 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365243,742,596 - 3,750,742 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365243,742,590 - 3,746,371 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RGP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1236,468,320 - 236,477,683 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11236,468,115 - 236,478,347 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21264,193,418 - 264,197,794 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RGP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11244,843,368 - 44,851,896 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1244,848,379 - 44,851,942 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603841,948,022 - 41,956,690 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rgp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248685,041,653 - 5,045,466 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248685,027,481 - 5,055,392 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RGP1
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 copy number gain See cases [RCV000134038] Chr9:35623500..38815474 [GRCh38]
Chr9:35623497..38815471 [GRCh37]
Chr9:35613497..38805471 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_001080496.3(RGP1):c.-116CGC[9] microsatellite not provided [RCV001552493] Chr9:35749311..35749312 [GRCh38]
Chr9:35749308..35749309 [GRCh37]
Chr9:9p13.3		 likely benign
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 copy number loss Neurodevelopmental disorder [RCV001580195] Chr9:35059633..37660586 [GRCh37]
Chr9:9p13.3-13.2		 pathogenic
NM_001080496.3(RGP1):c.-22G>C single nucleotide variant not provided [RCV001682154] Chr9:35749406 [GRCh38]
Chr9:35749403 [GRCh37]
Chr9:9p13.3		 benign
NM_001080496.3(RGP1):c.-20+139T>C single nucleotide variant not provided [RCV001709056] Chr9:35749547 [GRCh38]
Chr9:35749544 [GRCh37]
Chr9:9p13.3		 benign
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
NC_000009.11:g.(?_35683146)_(36277049_?)dup duplication Arthrogryposis, distal, type 1A [RCV001345686] Chr9:35683146..36277049 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV001933515] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup duplication Anauxetic dysplasia [RCV003114124] Chr9:34370797..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001080496.3(RGP1):c.1021C>T (p.Pro341Ser) single nucleotide variant not specified [RCV004222212] Chr9:35752719 [GRCh38]
Chr9:35752716 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.1021C>G (p.Pro341Ala) single nucleotide variant not specified [RCV004238758] Chr9:35752719 [GRCh38]
Chr9:35752716 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.496G>T (p.Asp166Tyr) single nucleotide variant not specified [RCV004133540] Chr9:35751274 [GRCh38]
Chr9:35751271 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.25A>C (p.Ser9Arg) single nucleotide variant not specified [RCV004165803] Chr9:35749780 [GRCh38]
Chr9:35749777 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.190C>T (p.Pro64Ser) single nucleotide variant not specified [RCV004091470] Chr9:35750316 [GRCh38]
Chr9:35750313 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.341C>G (p.Ser114Cys) single nucleotide variant not specified [RCV004209096] Chr9:35750843 [GRCh38]
Chr9:35750840 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.431G>A (p.Arg144His) single nucleotide variant not specified [RCV004203319] Chr9:35750933 [GRCh38]
Chr9:35750930 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.829G>C (p.Gly277Arg) single nucleotide variant not specified [RCV004249764] Chr9:35752022 [GRCh38]
Chr9:35752019 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001044264.3(MSMP):c.4G>A (p.Ala2Thr) single nucleotide variant not specified [RCV004248992] Chr9:35754126 [GRCh38]
Chr9:35754123 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.430C>T (p.Arg144Cys) single nucleotide variant not specified [RCV004264659] Chr9:35750932 [GRCh38]
Chr9:35750929 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.1124C>A (p.Thr375Asn) single nucleotide variant not specified [RCV004251839] Chr9:35752822 [GRCh38]
Chr9:35752819 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1 copy number loss not specified [RCV003986844] Chr9:35440393..38787480 [GRCh37]
Chr9:9p13.3-13.1		 likely pathogenic
NM_001080496.3(RGP1):c.790C>T (p.Arg264Cys) single nucleotide variant not specified [RCV004448923] Chr9:35751983 [GRCh38]
Chr9:35751980 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.1142C>T (p.Ala381Val) single nucleotide variant not specified [RCV004448916] Chr9:35752840 [GRCh38]
Chr9:35752837 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.623G>T (p.Cys208Phe) single nucleotide variant not specified [RCV004448920] Chr9:35751401 [GRCh38]
Chr9:35751398 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.626G>A (p.Arg209His) single nucleotide variant not specified [RCV004448921] Chr9:35751404 [GRCh38]
Chr9:35751401 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.113C>G (p.Ser38Cys) single nucleotide variant not specified [RCV004448915] Chr9:35749868 [GRCh38]
Chr9:35749865 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.784G>A (p.Glu262Lys) single nucleotide variant not specified [RCV004448922] Chr9:35751977 [GRCh38]
Chr9:35751974 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.847C>T (p.His283Tyr) single nucleotide variant not specified [RCV004448924] Chr9:35752040 [GRCh38]
Chr9:35752037 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.196G>C (p.Asp66His) single nucleotide variant not specified [RCV004448917] Chr9:35750322 [GRCh38]
Chr9:35750319 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.499G>A (p.Val167Ile) single nucleotide variant not specified [RCV004448918] Chr9:35751277 [GRCh38]
Chr9:35751274 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.502C>T (p.Arg168Trp) single nucleotide variant not specified [RCV004448919] Chr9:35751280 [GRCh38]
Chr9:35751277 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.907C>T (p.Leu303Phe) single nucleotide variant not specified [RCV004448925] Chr9:35752100 [GRCh38]
Chr9:35752097 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001080496.3(RGP1):c.950T>C (p.Ile317Thr) single nucleotide variant not specified [RCV004448926] Chr9:35752143 [GRCh38]
Chr9:35752140 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001044264.3(MSMP):c.49G>T (p.Gly17Cys) single nucleotide variant not specified [RCV004500959] Chr9:35754081 [GRCh38]
Chr9:35754078 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001044264.3(MSMP):c.263C>T (p.Pro88Leu) single nucleotide variant not specified [RCV004500946] Chr9:35753257 [GRCh38]
Chr9:35753254 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001044264.3(MSMP):c.281G>A (p.Arg94His) single nucleotide variant not specified [RCV004500950] Chr9:35753239 [GRCh38]
Chr9:35753236 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001044264.3(MSMP):c.332G>A (p.Arg111Gln) single nucleotide variant not specified [RCV004500954] Chr9:35753188 [GRCh38]
Chr9:35753185 [GRCh37]
Chr9:9p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3546
Count of miRNA genes:1216
Interacting mature miRNAs:1559
Transcripts:ENST00000378078, ENST00000456972, ENST00000496906
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH69919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,757,626 - 35,757,757UniSTSGRCh37
Build 36935,747,626 - 35,747,757RGDNCBI36
Celera935,691,177 - 35,691,308RGD
Cytogenetic Map9pter-p22.1UniSTS
HuRef935,713,245 - 35,713,376UniSTS
GeneMap99-GB4 RH Map9151.57UniSTS
RH80781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,752,860 - 35,753,088UniSTSGRCh37
Build 36935,742,860 - 35,743,088RGDNCBI36
Celera935,686,411 - 35,686,639RGD
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9pter-p22.1UniSTS
HuRef935,708,479 - 35,708,707UniSTS
MARC_8221-8222:996688418:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,754,012 - 35,754,341UniSTSGRCh37
Build 36935,744,012 - 35,744,341RGDNCBI36
Celera935,687,563 - 35,687,892RGD
HuRef935,709,631 - 35,709,960UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2128 1604 1279 213 1179 90 3434 1461 1591 298 1316 1541 139 1 844 2271 5 2
Low 311 1383 447 411 768 375 923 736 2142 120 144 72 36 360 517 1
Below cutoff 4 4 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000378078   ⟹   ENSP00000367318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,749,287 - 35,758,585 (+)Ensembl
RefSeq Acc Id: ENST00000496906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,749,291 - 35,754,142 (+)Ensembl
RefSeq Acc Id: NM_001080496   ⟹   NP_001073965
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,749,287 - 35,758,585 (+)NCBI
GRCh37935,749,277 - 35,753,264 (+)RGD
Build 36935,739,203 - 35,742,871 (+)NCBI Archive
Celera935,682,828 - 35,686,815 (+)RGD
HuRef935,704,897 - 35,708,883 (+)ENTREZGENE
CHM1_1935,749,681 - 35,753,668 (+)NCBI
T2T-CHM13v2.0935,769,968 - 35,779,266 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007061382
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,749,287 - 35,790,428 (+)NCBI
RefSeq Acc Id: XR_007061383
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,749,287 - 35,790,428 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001073965 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01725 (Get FASTA)   NCBI Sequence Viewer  
  BAA13388 (Get FASTA)   NCBI Sequence Viewer  
  BAF82255 (Get FASTA)   NCBI Sequence Viewer  
  EAW58343 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000367318
  ENSP00000367318.4
GenBank Protein Q92546 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001073965   ⟸   NM_001080496
- UniProtKB: Q5TCV5 (UniProtKB/Swiss-Prot),   Q92546 (UniProtKB/Swiss-Prot),   A8K0K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000367318   ⟸   ENST00000378078

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92546-F1-model_v2 AlphaFold Q92546 1-391 view protein structure

Promoters
RGD ID:6808043
Promoter ID:HG_KWN:63106
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_001080496,   OTTHUMT00000052352,   UC003ZYA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,738,211 - 35,739,312 (+)MPROMDB
RGD ID:7215033
Promoter ID:EPDNEW_H13262
Type:multiple initiation site
Name:RGP1_2
Description:RGP1 homolog, RAB6A GEF complex partner 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13264  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,748,654 - 35,748,714EPDNEW
RGD ID:7215037
Promoter ID:EPDNEW_H13264
Type:initiation region
Name:RGP1_1
Description:RGP1 homolog, RAB6A GEF complex partner 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13262  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,749,287 - 35,749,347EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21965 AgrOrtholog
COSMIC RGP1 COSMIC
Ensembl Genes ENSG00000107185 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000378078 ENTREZGENE
  ENST00000378078.5 UniProtKB/Swiss-Prot
GTEx ENSG00000107185 GTEx
HGNC ID HGNC:21965 ENTREZGENE
Human Proteome Map RGP1 Human Proteome Map
InterPro Rgp1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9827 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9827 ENTREZGENE
OMIM 615742 OMIM
PANTHER PTHR12507 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAB6A-GEF COMPLEX PARTNER PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Rgp1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162401278 PharmGKB
UniProt A8K0K1 ENTREZGENE, UniProtKB/TrEMBL
  Q5TCV5 ENTREZGENE
  Q92546 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5TCV5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-28 RGP1  RGP1 homolog, RAB6A GEF complex partner 1    RGP1 retrograde golgi transport homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED