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AP4E1 (adaptor related protein complex 4 epsilon 1 subunit)

Identity

Alias_namesadaptor-related protein complex 4, epsilon 1 subunit
Alias_symbol (synonym)AP-4-EPSILON
SPG51
Other aliasCPSQ4
STUT1
HGNC (Hugo) AP4E1
LocusID (NCBI) 23431
Atlas_Id 60409
Location 15q21.2  [Link to chromosome band 15q21]
Location_base_pair Starts at 50908672 and ends at 51005900 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AP4E1   573
LRG (Locus Reference Genomic)LRG_732
Cards
Entrez_Gene (NCBI)AP4E1  23431  adaptor related protein complex 4 epsilon 1 subunit
AliasesCPSQ4; SPG51; STUT1
GeneCards (Weizmann)AP4E1
Ensembl hg19 (Hinxton)ENSG00000081014 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000081014 [Gene_View]  chr15:50908672-51005900 [Contig_View]  AP4E1 [Vega]
ICGC DataPortalENSG00000081014
TCGA cBioPortalAP4E1
AceView (NCBI)AP4E1
Genatlas (Paris)AP4E1
WikiGenes23431
SOURCE (Princeton)AP4E1
Genetics Home Reference (NIH)AP4E1
Genomic and cartography
GoldenPath hg38 (UCSC)AP4E1  -     chr15:50908672-51005900 +  15q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP4E1  -     15q21.2   [Description]    (hg19-Feb_2009)
EnsemblAP4E1 - 15q21.2 [CytoView hg19]  AP4E1 - 15q21.2 [CytoView hg38]
Mapping of homologs : NCBIAP4E1 [Mapview hg19]  AP4E1 [Mapview hg38]
OMIM184450   607244   613744   
Gene and transcription
Genbank (Entrez)AB030653 AF155156 AI143020 AK297290 AK308644
RefSeq transcript (Entrez)NM_001252127 NM_007347
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP4E1
Cluster EST : UnigeneHs.413366 [ NCBI ]
CGAP (NCI)Hs.413366
Alternative Splicing GalleryENSG00000081014
Gene ExpressionAP4E1 [ NCBI-GEO ]   AP4E1 [ EBI - ARRAY_EXPRESS ]   AP4E1 [ SEEK ]   AP4E1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP4E1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23431
GTEX Portal (Tissue expression)AP4E1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPM8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPM8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPM8
Splice isoforms : SwissVarQ9UPM8
PhosPhoSitePlusQ9UPM8
Domains : Interpro (EBI)AP4_complex_esu    AP4E1_C    ARM-like    ARM-type_fold    Clathrin/coatomer_adapt-like_N   
Domain families : Pfam (Sanger)Adaptin_N (PF01602)    AP4E_app_platf (PF14807)   
Domain families : Pfam (NCBI)pfam01602    pfam14807   
Conserved Domain (NCBI)AP4E1
DMDM Disease mutations23431
Blocks (Seattle)AP4E1
SuperfamilyQ9UPM8
Human Protein AtlasENSG00000081014
Peptide AtlasQ9UPM8
HPRD06258
IPIIPI00010213   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPM8
IntAct (EBI)Q9UPM8
FunCoupENSG00000081014
BioGRIDAP4E1
STRING (EMBL)AP4E1
ZODIACAP4E1
Ontologies - Pathways
QuickGOQ9UPM8
Ontology : AmiGOclathrin-coated pit  intracellular protein transport  vesicle-mediated transport  membrane coat  endosome lumen  trans-Golgi network membrane  
Ontology : EGO-EBIclathrin-coated pit  intracellular protein transport  vesicle-mediated transport  membrane coat  endosome lumen  trans-Golgi network membrane  
Pathways : KEGGLysosome   
NDEx NetworkAP4E1
Atlas of Cancer Signalling NetworkAP4E1
Wikipedia pathwaysAP4E1
Orthology - Evolution
OrthoDB23431
GeneTree (enSembl)ENSG00000081014
Phylogenetic Trees/Animal Genes : TreeFamAP4E1
HOVERGENQ9UPM8
HOGENOMQ9UPM8
Homologs : HomoloGeneAP4E1
Homology/Alignments : Family Browser (UCSC)AP4E1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP4E1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP4E1
dbVarAP4E1
ClinVarAP4E1
1000_GenomesAP4E1 
Exome Variant ServerAP4E1
ExAC (Exome Aggregation Consortium)AP4E1 (select the gene name)
Genetic variants : HAPMAP23431
Genomic Variants (DGV)AP4E1 [DGVbeta]
DECIPHERAP4E1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP4E1 
Mutations
ICGC Data PortalAP4E1 
TCGA Data PortalAP4E1 
Broad Tumor PortalAP4E1
OASIS PortalAP4E1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP4E1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAP4E1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AP4E1
DgiDB (Drug Gene Interaction Database)AP4E1
DoCM (Curated mutations)AP4E1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP4E1 (select a term)
intoGenAP4E1
Cancer3DAP4E1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM184450    607244    613744   
Orphanet20498   
MedgenAP4E1
Genetic Testing Registry AP4E1
NextProtQ9UPM8 [Medical]
TSGene23431
GENETestsAP4E1
Huge Navigator AP4E1 [HugePedia]
snp3D : Map Gene to Disease23431
BioCentury BCIQAP4E1
ClinGenAP4E1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23431
Chemical/Pharm GKB GenePA24865
Clinical trialAP4E1
Miscellaneous
canSAR (ICR)AP4E1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP4E1
EVEXAP4E1
GoPubMedAP4E1
iHOPAP4E1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:00:28 CEST 2017

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