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AP1S1 (adaptor related protein complex 1 sigma 1 subunit)

Identity

Other namesAP19
CLAPS1
EKV3
MEDNIK
SIGMA1A
HGNC (Hugo) AP1S1
LocusID (NCBI) 1174
Atlas_Id 662
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 100797686 and ends at 100804557 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AP1S1 (7q22.1) / AP1S1 (7q22.1)

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)AP1S1   559
Cards
Entrez_Gene (NCBI)AP1S1  1174  adaptor related protein complex 1 sigma 1 subunit
AliasesAP19; CLAPS1; EKV3; MEDNIK; 
SIGMA1A
GeneCards (Weizmann)AP1S1
Ensembl hg19 (Hinxton)ENSG00000106367 [Gene_View]  chr7:100797686-100804557 [Contig_View]  AP1S1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000106367 [Gene_View]  chr7:100797686-100804557 [Contig_View]  AP1S1 [Vega]
ICGC DataPortalENSG00000106367
TCGA cBioPortalAP1S1
AceView (NCBI)AP1S1
Genatlas (Paris)AP1S1
WikiGenes1174
SOURCE (Princeton)AP1S1
Genomic and cartography
GoldenPath hg19 (UCSC)AP1S1  -     chr7:100797686-100804557 +  7q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AP1S1  -     7q22.1   [Description]    (hg38-Dec_2013)
EnsemblAP1S1 - 7q22.1 [CytoView hg19]  AP1S1 - 7q22.1 [CytoView hg38]
Mapping of homologs : NCBIAP1S1 [Mapview hg19]  AP1S1 [Mapview hg38]
OMIM603531   609313   
Gene and transcription
Genbank (Entrez)AB015319 AK312151 BC003561 BI597121 BI598615
RefSeq transcript (Entrez)NM_001283 NM_057089
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_033082 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)AP1S1
Cluster EST : UnigeneHs.489365 [ NCBI ]
CGAP (NCI)Hs.489365
Alternative Splicing GalleryENSG00000106367
Gene ExpressionAP1S1 [ NCBI-GEO ]   AP1S1 [ EBI - ARRAY_EXPRESS ]   AP1S1 [ SEEK ]   AP1S1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP1S1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1174
GTEX Portal (Tissue expression)AP1S1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP61966 (Uniprot)
NextProtP61966  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP61966
Splice isoforms : SwissVarP61966 (Swissvar)
PhosPhoSitePlusP61966
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   
Domain families : Pfam (Sanger)Clat_adaptor_s (PF01217)   
Domain families : Pfam (NCBI)pfam01217   
DMDM Disease mutations1174
Blocks (Seattle)AP1S1
PDB (SRS)4P6Z   
PDB (PDBSum)4P6Z   
PDB (IMB)4P6Z   
PDB (RSDB)4P6Z   
Structural Biology KnowledgeBase4P6Z   
SCOP (Structural Classification of Proteins)4P6Z   
CATH (Classification of proteins structures)4P6Z   
SuperfamilyP61966
Human Protein AtlasENSG00000106367
Peptide AtlasP61966
HPRD04635
IPIIPI00152898   IPI00100559   IPI00927531   
Protein Interaction databases
DIP (DOE-UCLA)P61966
IntAct (EBI)P61966
FunCoupENSG00000106367
BioGRIDAP1S1
STRING (EMBL)AP1S1
ZODIACAP1S1
Ontologies - Pathways
QuickGOP61966
Ontology : AmiGOGolgi membrane  lysosomal membrane  Golgi apparatus  cytosol  coated pit  intracellular protein transport  receptor-mediated endocytosis  protein transporter activity  response to virus  membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  AP-1 adaptor complex  cytoplasmic vesicle membrane  clathrin-coated endocytic vesicle membrane  trans-Golgi network membrane  retrograde transport, endosome to Golgi  terminal bouton  intracellular membrane-bounded organelle  regulation of defense response to virus by virus  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  lysosomal membrane  Golgi apparatus  cytosol  coated pit  intracellular protein transport  receptor-mediated endocytosis  protein transporter activity  response to virus  membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  AP-1 adaptor complex  cytoplasmic vesicle membrane  clathrin-coated endocytic vesicle membrane  trans-Golgi network membrane  retrograde transport, endosome to Golgi  terminal bouton  intracellular membrane-bounded organelle  regulation of defense response to virus by virus  extracellular exosome  
Pathways : KEGGLysosome   
NDEx Network
Atlas of Cancer Signalling NetworkAP1S1
Wikipedia pathwaysAP1S1
Orthology - Evolution
OrthoDB1174
GeneTree (enSembl)ENSG00000106367
Phylogenetic Trees/Animal Genes : TreeFamAP1S1
Homologs : HomoloGeneAP1S1
Homology/Alignments : Family Browser (UCSC)AP1S1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerAP1S1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP1S1
dbVarAP1S1
ClinVarAP1S1
1000_GenomesAP1S1 
Exome Variant ServerAP1S1
ExAC (Exome Aggregation Consortium)AP1S1 (select the gene name)
Genetic variants : HAPMAP1174
Genomic Variants (DGV)AP1S1 [DGVbeta]
Mutations
ICGC Data PortalAP1S1 
TCGA Data PortalAP1S1 
Broad Tumor PortalAP1S1
OASIS PortalAP1S1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP1S1 
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 AP1S1
DgiDB (Drug Gene Interaction Database)AP1S1
DoCM (Curated mutations)AP1S1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP1S1 (select a term)
intoGenAP1S1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:100797686-100804557  ENSG00000106367
CONAN: Copy Number AnalysisAP1S1 
Mutations and Diseases : HGMDAP1S1
OMIM603531    609313   
MedgenAP1S1
Genetic Testing Registry AP1S1
NextProtP61966 [Medical]
TSGene1174
GENETestsAP1S1
Huge Navigator AP1S1 [HugePedia]
snp3D : Map Gene to Disease1174
BioCentury BCIQAP1S1
ClinGenAP1S1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1174
Chemical/Pharm GKB GenePA24850
Clinical trialAP1S1
Miscellaneous
canSAR (ICR)AP1S1 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP1S1
EVEXAP1S1
GoPubMedAP1S1
iHOPAP1S1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 19:00:45 CEST 2016

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