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AP4S1 (adaptor related protein complex 4 sigma 1 subunit)

Identity

Alias_namesadaptor-related protein complex 4, sigma 1 subunit
Alias_symbol (synonym)CLA20
AP47B
SPG52
Other aliasCLAPS4
CPSQ6
HGNC (Hugo) AP4S1
LocusID (NCBI) 11154
Atlas_Id 60411
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 31025470 and ends at 31096450 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BMPR2 (2q33.1) / AP4S1 (14q12)

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)AP4S1   575
Cards
Entrez_Gene (NCBI)AP4S1  11154  adaptor related protein complex 4 sigma 1 subunit
AliasesAP47B; CLA20; CLAPS4; CPSQ6; 
SPG52
GeneCards (Weizmann)AP4S1
Ensembl hg19 (Hinxton)ENSG00000100478 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100478 [Gene_View]  chr14:31025470-31096450 [Contig_View]  AP4S1 [Vega]
ICGC DataPortalENSG00000100478
TCGA cBioPortalAP4S1
AceView (NCBI)AP4S1
Genatlas (Paris)AP4S1
WikiGenes11154
SOURCE (Princeton)AP4S1
Genetics Home Reference (NIH)AP4S1
Genomic and cartography
GoldenPath hg38 (UCSC)AP4S1  -     chr14:31025470-31096450 +  14q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP4S1  -     14q12   [Description]    (hg19-Feb_2009)
EnsemblAP4S1 - 14q12 [CytoView hg19]  AP4S1 - 14q12 [CytoView hg38]
Mapping of homologs : NCBIAP4S1 [Mapview hg19]  AP4S1 [Mapview hg38]
OMIM607243   614067   
Gene and transcription
Genbank (Entrez)AB030654 AF155159 AI570549 AK056928 AK098330
RefSeq transcript (Entrez)NM_001128126 NM_001254726 NM_001254727 NM_001254728 NM_001254729 NM_007077
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP4S1
Cluster EST : UnigeneHs.293411 [ NCBI ]
CGAP (NCI)Hs.293411
Alternative Splicing GalleryENSG00000100478
Gene ExpressionAP4S1 [ NCBI-GEO ]   AP4S1 [ EBI - ARRAY_EXPRESS ]   AP4S1 [ SEEK ]   AP4S1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP4S1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11154
GTEX Portal (Tissue expression)AP4S1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y587   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y587  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y587
Splice isoforms : SwissVarQ9Y587
PhosPhoSitePlusQ9Y587
Domains : Interpro (EBI)AP_complex_ssu    AP_mu_sigma_su    Longin-like_dom   
Domain families : Pfam (Sanger)Clat_adaptor_s (PF01217)   
Domain families : Pfam (NCBI)pfam01217   
Conserved Domain (NCBI)AP4S1
DMDM Disease mutations11154
Blocks (Seattle)AP4S1
SuperfamilyQ9Y587
Human Protein AtlasENSG00000100478
Peptide AtlasQ9Y587
HPRD06257
IPIIPI00001145   IPI00020385   IPI00384143   IPI01024954   IPI01025083   IPI01024759   IPI01024893   IPI01026188   IPI01026296   IPI01011836   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y587
IntAct (EBI)Q9Y587
FunCoupENSG00000100478
BioGRIDAP4S1
STRING (EMBL)AP4S1
ZODIACAP4S1
Ontologies - Pathways
QuickGOQ9Y587
Ontology : AmiGOtransporter activity  clathrin-coated pit  protein transporter activity  protein transport  endosome lumen  trans-Golgi network membrane  
Ontology : EGO-EBItransporter activity  clathrin-coated pit  protein transporter activity  protein transport  endosome lumen  trans-Golgi network membrane  
Pathways : KEGGLysosome   
NDEx NetworkAP4S1
Atlas of Cancer Signalling NetworkAP4S1
Wikipedia pathwaysAP4S1
Orthology - Evolution
OrthoDB11154
GeneTree (enSembl)ENSG00000100478
Phylogenetic Trees/Animal Genes : TreeFamAP4S1
HOVERGENQ9Y587
HOGENOMQ9Y587
Homologs : HomoloGeneAP4S1
Homology/Alignments : Family Browser (UCSC)AP4S1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP4S1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP4S1
dbVarAP4S1
ClinVarAP4S1
1000_GenomesAP4S1 
Exome Variant ServerAP4S1
ExAC (Exome Aggregation Consortium)AP4S1 (select the gene name)
Genetic variants : HAPMAP11154
Genomic Variants (DGV)AP4S1 [DGVbeta]
DECIPHERAP4S1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP4S1 
Mutations
ICGC Data PortalAP4S1 
TCGA Data PortalAP4S1 
Broad Tumor PortalAP4S1
OASIS PortalAP4S1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP4S1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAP4S1
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 AP4S1
DgiDB (Drug Gene Interaction Database)AP4S1
DoCM (Curated mutations)AP4S1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP4S1 (select a term)
intoGenAP4S1
Cancer3DAP4S1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607243    614067   
Orphanet20498   
MedgenAP4S1
Genetic Testing Registry AP4S1
NextProtQ9Y587 [Medical]
TSGene11154
GENETestsAP4S1
Huge Navigator AP4S1 [HugePedia]
snp3D : Map Gene to Disease11154
BioCentury BCIQAP4S1
ClinGenAP4S1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11154
Chemical/Pharm GKB GenePA24867
Clinical trialAP4S1
Miscellaneous
canSAR (ICR)AP4S1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP4S1
EVEXAP4S1
GoPubMedAP4S1
iHOPAP4S1
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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