AP3S1 (adaptor related protein complex 3 subunit sigma 1)

1. Identity

Alias_names
General Information
adaptor-related protein complex 3
Other aliasSigma3A
HGNC (Hugo) AP3S1
LocusID (NCBI) 1176
Atlas_Id 52970
Location 5q22.3  [Link to chromosome band 5q22]
Location_base_pair Starts at 115841606 and ends at 115914081 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
COMMD10 (5q23.1) / AP3S1 (5q22.3)LMAN2 (5q35.3) / AP3S1 (5q22.3)COMMD10 5q23.1 / AP3S1 5q22.3

2. DNA/RNA

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Prostate tumors: an overview
COMMD10/AP3S1 (5q23)
COMMD10/AP3S1 (5q23)
t(5;5)(q23;q35) LMAN2/AP3S1

3. External links

Nomenclature
HGNC (Hugo)AP3S1   2013
Cards
Entrez_Gene (NCBI)AP3S1  1176  adaptor related protein complex 3 subunit sigma 1
AliasesCLAPS3; Sigma3A
GeneCards (Weizmann)AP3S1
Ensembl hg19 (Hinxton)ENSG00000177879 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177879 [Gene_View] &nbspENSG00000177879 [Sequence]  chr5:115841606-115914081 [Contig_View]  AP3S1 [Vega]
ICGC DataPortalENSG00000177879
TCGA cBioPortalAP3S1
AceView (NCBI)AP3S1
Genatlas (Paris)AP3S1
WikiGenes1176
SOURCE (Princeton)AP3S1
Genetics Home Reference (NIH)AP3S1
Genomic and cartography
GoldenPath hg38 (UCSC)AP3S1  -     chr5:115841606-115914081 +  5q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP3S1  -     5q22.3   [Description]    (hg19-Feb_2009)
EnsemblAP3S1 - 5q22.3 [CytoView hg19]  AP3S1 - 5q22.3 [CytoView hg38]
Mapping of homologs : NCBIAP3S1 [Mapview hg19]  AP3S1 [Mapview hg38]
OMIM601507   
Gene and transcription
Genbank (Entrez)AK124911 AK126876 AK311843 BC000804 BC012614
RefSeq transcript (Entrez)NM_001002924 NM_001284 NM_001318090 NM_001318091 NM_001318093 NM_001318094 NM_001364119 NM_001364120 NM_001364122
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP3S1
Cluster EST : UnigeneHs.406191 [ NCBI ]
CGAP (NCI)Hs.406191
Alternative Splicing GalleryENSG00000177879
Gene ExpressionAP3S1 [ NCBI-GEO ]   AP3S1 [ EBI - ARRAY_EXPRESS ]   AP3S1 [ SEEK ]   AP3S1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP3S1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)1176
GTEX Portal (Tissue expression)AP3S1
Human Protein AtlasENSG00000177879-AP3S1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92572   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92572  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92572
Splice isoforms : SwissVarQ92572
PhosPhoSitePlusQ92572
Domaine pattern : Prosite (Expaxy)CLAT_ADAPTOR_S (PS00989)   
Domains : Interpro (EBI)AP_complex_ssu    AP_mu_sigma_su    Clathrin_sm-chain_CS    Longin-like_dom_sf   
Domain families : Pfam (Sanger)Clat_adaptor_s (PF01217)   
Domain families : Pfam (NCBI)pfam01217   
Conserved Domain (NCBI)AP3S1
DMDM Disease mutations1176
Blocks (Seattle)AP3S1
SuperfamilyQ92572
Human Protein Atlas [tissue]ENSG00000177879-AP3S1 [tissue]
Peptide AtlasQ92572
HPRD03298
IPIIPI00014624   IPI01012817   
Protein Interaction databases
DIP (DOE-UCLA)Q92572
IntAct (EBI)Q92572
FunCoupENSG00000177879
BioGRIDAP3S1
STRING (EMBL)AP3S1
ZODIACAP3S1
Ontologies - Pathways
QuickGOQ92572
Ontology : AmiGOtransporter activity  protein binding  Golgi apparatus  intracellular protein transport  anterograde axonal transport  insulin receptor signaling pathway  AP-type membrane coat adaptor complex  AP-3 adaptor complex  transport vesicle  cytoplasmic vesicle membrane  intracellular membrane-bounded organelle  anterograde synaptic vesicle transport  axon cytoplasm  
Ontology : EGO-EBItransporter activity  protein binding  Golgi apparatus  intracellular protein transport  anterograde axonal transport  insulin receptor signaling pathway  AP-type membrane coat adaptor complex  AP-3 adaptor complex  transport vesicle  cytoplasmic vesicle membrane  intracellular membrane-bounded organelle  anterograde synaptic vesicle transport  axon cytoplasm  
Pathways : KEGGLysosome   
NDEx NetworkAP3S1
Atlas of Cancer Signalling NetworkAP3S1
Wikipedia pathwaysAP3S1
Orthology - Evolution
OrthoDB1176
GeneTree (enSembl)ENSG00000177879
Phylogenetic Trees/Animal Genes : TreeFamAP3S1
HOGENOMQ92572
Homologs : HomoloGeneAP3S1
Homology/Alignments : Family Browser (UCSC)AP3S1
Gene fusions - Rearrangements
Fusion : MitelmanCOMMD10/AP3S1 [5q23.1/5q22.3] &nbsp[t(5;5)(q23;q23)]  
Fusion : MitelmanLMAN2/AP3S1 [5q35.3/5q22.3] &nbsp[t(5;5)(q23;q35)]  
Fusion PortalCOMMD10 5q23.1 AP3S1 5q22.3 BLCA LGG
Fusion : QuiverAP3S1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP3S1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP3S1
dbVarAP3S1
ClinVarAP3S1
1000_GenomesAP3S1 
Exome Variant ServerAP3S1
ExAC (Exome Aggregation Consortium)ENSG00000177879
GNOMAD BrowserENSG00000177879
Varsome BrowserAP3S1
Genetic variants : HAPMAP1176
Genomic Variants (DGV)AP3S1 [DGVbeta]
DECIPHERAP3S1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP3S1 
Mutations
ICGC Data PortalAP3S1 
TCGA Data PortalAP3S1 
Broad Tumor PortalAP3S1
OASIS PortalAP3S1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP3S1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAP3S1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AP3S1
DgiDB (Drug Gene Interaction Database)AP3S1
DoCM (Curated mutations)AP3S1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP3S1 (select a term)
intoGenAP3S1
Cancer3DAP3S1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601507   
Orphanet
DisGeNETAP3S1
MedgenAP3S1
Genetic Testing Registry AP3S1
NextProtQ92572 [Medical]
TSGene1176
GENETestsAP3S1
Target ValidationAP3S1
Huge Navigator AP3S1 [HugePedia]
snp3D : Map Gene to Disease1176
BioCentury BCIQAP3S1
ClinGenAP3S1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1176
Chemical/Pharm GKB GenePA24862
Clinical trialAP3S1
Miscellaneous
canSAR (ICR)AP3S1 (select the gene name)
DataMed IndexAP3S1
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP3S1
EVEXAP3S1
GoPubMedAP3S1
iHOPAP3S1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 17 18:01:17 CET 2019

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