Ap4e1 (adaptor related protein complex 4 subunit epsilon 1) - Rat Genome Database

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Gene: Ap4e1 (adaptor related protein complex 4 subunit epsilon 1) Chinchilla lanigera
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Symbol: Ap4e1
Name: adaptor related protein complex 4 subunit epsilon 1
RGD ID: 8831740
Description: ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); congenital disorder of glycosylation Ig (ortholog); FOUND IN AP-4 adaptor complex (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: adaptor related protein complex 4 epsilon 1 subunit; adaptor-related protein complex 4, epsilon 1 subunit; AP-4 complex subunit epsilon-1
RGD Orthologs
Human
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: ChiLan1.0 - Chinchilla ChiLan1.0 Assembly
NCBI Annotation Information: Annotation category: partial on reference assembly
Position:
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554093,476,527 - 3,532,683 (-)NCBIChiLan1.0ChiLan1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


1 to 14 of 14 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Ap4e1ChinchillaBloom syndrome  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: Bloom syndromeClinVarPMID:28492532
Ap4e1Chinchillacolorectal cancer  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: Familial colorectal cancerClinVarPMID:28492532
Ap4e1Chinchillacongenital disorder of glycosylation Ig  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylationClinVarPMID:23472171 more ...
Ap4e1ChinchillaDevelopmental Disease  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental disorderClinVarPMID:25741868
Ap4e1ChinchillaFamilial Persistent Stuttering 1  ISOAP4E1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:18414213 more ...
Ap4e1Chinchillagenetic disease  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:18414213 more ...
Ap4e1Chinchillahereditary spastic paraplegia  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: Hereditary spastic paraplegiaClinVarPMID:18414213 more ...
Ap4e1Chinchillahereditary spastic paraplegia  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: Hereditary spastic paraplegiaClinVarPMID:18414213 more ...
Ap4e1Chinchillahereditary spastic paraplegia 51  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: Hereditary spastic paraplegia 51ClinVarPMID:18414213 more ...
Ap4e1ChinchillaNervous System Malformations  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormality of the nervous systemClinVarPMID:25741868
Ap4e1Chinchillaneuropathy  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: Peripheral neuropathyClinVar 
Ap4e1Chinchillaparaplegia  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:16199547 more ...
Ap4e1Chinchillaperipheral nervous system disease  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: Peripheral neuropathyClinVar 
Ap4e1Chinchillastuttering  ISOAP4E1 (Homo sapiens)8554872ClinVar Annotator: match by term: STAMMERINGClinVarPMID:18414213 more ...
1 to 14 of 14 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Ap4e1Chinchillaintellectual disability  ISOAP4E1 (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTDPMID:21937992
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Ap4e1ChinchillaFamilial Persistent Stuttering 1  ISOAP4E1 (Homo sapiens)7240710 OMIM 
Ap4e1Chinchillahereditary spastic paraplegia 51  ISOAP4E1 (Homo sapiens)7240710 OMIM 


Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Ap4e1ChinchillaAP-4 adaptor complex part_ofISOAP4E1 (Homo sapiens)9068941 PMID:10066790UniProtPMID:10066790

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Ap4e1Chinchillaprotein binding enablesISOUniProtKB:Q96N219068941 PMID:26496610 more ...IntActPMID:26496610 more ...
Ap4e1Chinchillaprotein binding enablesISOUniProtKB:P238199068941 PMID:18341993UniProtPMID:18341993


#
Reference Title
Reference Citation
1. Transitive Annotation Pipeline Automated assignment of GO, PW and RDO ISO annotations across species
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
PMID:22301074   PMID:30032202  



Ap4e1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554093,476,527 - 3,532,683 (-)NCBIChiLan1.0ChiLan1.0
AP4E1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381550,907,492 - 51,005,895 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1550,908,672 - 51,005,895 (+)EnsemblGRCh38hg38GRCh38
GRCh371551,200,880 - 51,298,092 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361548,988,238 - 49,085,389 (+)NCBINCBI36Build 36hg18NCBI36
Build 341548,988,237 - 49,082,859NCBI
Celera1528,093,991 - 28,191,516 (+)NCBICelera
Cytogenetic Map15q21.2NCBI
HuRef1528,030,752 - 28,128,080 (+)NCBIHuRef
CHM1_11551,319,007 - 51,416,201 (+)NCBICHM1_1
T2T-CHM13v2.01548,714,133 - 48,813,558 (+)NCBIT2T-CHM13v2.0
Ap4e1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392126,850,600 - 126,911,734 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2126,850,637 - 126,909,829 (+)EnsemblGRCm39 Ensembl
GRCm382127,008,679 - 127,069,814 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2127,008,717 - 127,067,909 (+)EnsemblGRCm38mm10GRCm38
MGSCv372126,834,447 - 126,895,550 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362126,700,152 - 126,761,255 (+)NCBIMGSCv36mm8
Celera2128,232,201 - 128,296,951 (+)NCBICelera
Cytogenetic Map2F1NCBI
cM Map261.76NCBI
Ap4e1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83134,726,338 - 134,792,820 (+)NCBIGRCr8
mRatBN7.23114,272,997 - 114,339,484 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3114,272,956 - 114,336,752 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3118,164,967 - 118,228,802 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03126,760,516 - 126,824,351 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03124,420,900 - 124,484,727 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03119,484,714 - 119,548,491 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3119,484,677 - 119,548,621 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03126,010,551 - 126,074,949 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43114,550,205 - 114,615,150 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3113,113,130 - 113,177,269 (+)NCBICelera
Cytogenetic Map3q36NCBI
AP4E1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21640,154,942 - 40,252,467 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11544,335,335 - 44,439,393 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01529,857,818 - 29,957,158 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11548,195,475 - 48,292,133 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1548,195,581 - 48,288,895 (+)Ensemblpanpan1.1panPan2
AP4E1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13016,745,567 - 16,800,662 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3016,745,620 - 16,797,704 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3016,671,629 - 16,726,720 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03016,890,099 - 16,945,193 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3016,879,004 - 16,945,179 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13016,812,394 - 16,867,478 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03016,929,887 - 16,984,952 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03017,036,542 - 17,091,637 (+)NCBIUU_Cfam_GSD_1.0
Ap4e1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864095,008,953 - 95,071,552 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647112,857,323 - 12,916,718 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647112,857,259 - 12,919,615 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AP4E1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1120,880,456 - 120,946,031 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11120,880,460 - 120,946,045 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21134,278,410 - 134,343,745 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AP4E1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12632,358,432 - 32,447,207 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2632,357,199 - 32,446,274 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048108,710,522 - 108,835,633 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ap4e1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247319,298,016 - 9,348,284 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247319,295,151 - 9,348,394 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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RefSeq Acc Id: XM_013510289   ⟹   XP_013365743
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049554093,476,527 - 3,532,683 (-)NCBI
Sequence:
Protein RefSeqs XP_013365743 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: XP_013365743   ⟸   XM_013510289
- Sequence:



Database
Acc Id
Source(s)
NCBI Gene Ap4e1 ENTREZGENE


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 Ap4e1  adaptor related protein complex 4 subunit epsilon 1    adaptor related protein complex 4 epsilon 1 subunit  Symbol and/or name change 5135510 APPROVED
2016-08-03 Ap4e1  adaptor related protein complex 4 epsilon 1 subunit    adaptor-related protein complex 4, epsilon 1 subunit  Symbol and/or name change 5135510 APPROVED