Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

AP1S1 (adaptor related protein complex 1 subunit sigma 1)

Identity

Alias (NCBI)AP19
CLAPS1
EKV3
MEDNIK
SIGMA1A
HGNC (Hugo) AP1S1
HGNC Alias symbAP19
SIGMA1A
WUGSC:H_DJ0747G18.2
HGNC Alias nameclathrin-associated/assembly/adaptor protein, small 1 (19kD)
 clathrin coat assembly protein AP19
 sigma1A subunit of AP-1 clathrin adaptor complex
 AP-1 complex subunit sigma-1A
 sigma1A-adaptin
 golgi adaptor HA1/AP1 adaptin sigma-1A subunit
 clathrin assembly protein complex 1 sigma-1A small chain
 HA1 19 kDa subunit
HGNC Previous nameCLAPS1
 EKV3
HGNC Previous nameerythrokeratodermia variabilis 3 (Kamouraska type)
 adaptor related protein complex 1 sigma 1 subunit
LocusID (NCBI) 1174
Atlas_Id 662
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 101154476 and ends at 101161276 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)
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
LRG (Locus Reference Genomic)LRG_1363
Cards
Entrez_Gene (NCBI)AP1S1    adaptor related protein complex 1 subunit sigma 1
AliasesAP19; CLAPS1; EKV3; MEDNIK; 
SIGMA1A
GeneCards (Weizmann)AP1S1
Ensembl hg19 (Hinxton)ENSG00000106367 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106367 [Gene_View]  ENSG00000106367 [Sequence]  chr7:101154476-101161276 [Contig_View]  AP1S1 [Vega]
ICGC DataPortalENSG00000106367
TCGA cBioPortalAP1S1
AceView (NCBI)AP1S1
Genatlas (Paris)AP1S1
SOURCE (Princeton)AP1S1
Genetics Home Reference (NIH)AP1S1
Genomic and cartography
GoldenPath hg38 (UCSC)AP1S1  -     chr7:101154476-101161276 +  7q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP1S1  -     7q22.1   [Description]    (hg19-Feb_2009)
GoldenPathAP1S1 - 7q22.1 [CytoView hg19]  AP1S1 - 7q22.1 [CytoView hg38]
ImmunoBaseENSG00000106367
Genome Data Viewer NCBIAP1S1 [Mapview hg19]  
OMIM603531   609313   
Gene and transcription
Genbank (Entrez)AB015319 AK312151 AL578356 BC003561 BI597121
RefSeq transcript (Entrez)NM_001283 NM_057089
Consensus coding sequences : CCDS (NCBI)AP1S1
Gene ExpressionAP1S1 [ NCBI-GEO ]   AP1S1 [ EBI - ARRAY_EXPRESS ]   AP1S1 [ SEEK ]   AP1S1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP1S1 [ Firebrowse - Broad ]
GenevisibleExpression of AP1S1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1174
GTEX Portal (Tissue expression)AP1S1
Human Protein AtlasENSG00000106367-AP1S1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP61966   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP61966  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP61966
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_sf   
Domain families : Pfam (Sanger)Clat_adaptor_s (PF01217)   
Domain families : Pfam (NCBI)pfam01217   
Conserved Domain (NCBI)AP1S1
PDB (RSDB)4P6Z   
PDB Europe4P6Z   
PDB (PDBSum)4P6Z   
PDB (IMB)4P6Z   
Structural Biology KnowledgeBase4P6Z   
SCOP (Structural Classification of Proteins)4P6Z   
CATH (Classification of proteins structures)4P6Z   
SuperfamilyP61966
AlphaFold pdb e-kbP61966   
Human Protein Atlas [tissue]ENSG00000106367-AP1S1 [tissue]
HPRD04635
Protein Interaction databases
DIP (DOE-UCLA)P61966
IntAct (EBI)P61966
BioGRIDAP1S1
STRING (EMBL)AP1S1
ZODIACAP1S1
Ontologies - Pathways
QuickGOP61966
Ontology : AmiGOGolgi membrane  lysosomal membrane  Golgi apparatus  cytosol  clathrin-coated pit  intracellular protein transport  receptor-mediated endocytosis  response to virus  membrane  vesicle-mediated transport  AP-1 adaptor complex  cytoplasmic vesicle membrane  trans-Golgi network membrane  clathrin adaptor activity  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  
Ontology : EGO-EBIGolgi membrane  lysosomal membrane  Golgi apparatus  cytosol  clathrin-coated pit  intracellular protein transport  receptor-mediated endocytosis  response to virus  membrane  vesicle-mediated transport  AP-1 adaptor complex  cytoplasmic vesicle membrane  trans-Golgi network membrane  clathrin adaptor activity  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  
Pathways : KEGGKEGG_LYSOSOME   
NDEx NetworkAP1S1
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
Fusion : QuiverAP1S1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP1S1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP1S1
dbVarAP1S1
ClinVarAP1S1
MonarchAP1S1
1000_GenomesAP1S1 
Exome Variant ServerAP1S1
GNOMAD BrowserENSG00000106367
Varsome BrowserAP1S1
ACMGAP1S1 variants
VarityP61966
Genomic Variants (DGV)AP1S1 [DGVbeta]
DECIPHERAP1S1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP1S1 
Mutations
ICGC Data PortalAP1S1 
TCGA Data PortalAP1S1 
Broad Tumor PortalAP1S1
OASIS PortalAP1S1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP1S1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAP1S1
Mutations and Diseases : HGMDAP1S1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAP1S1
DgiDB (Drug Gene Interaction Database)AP1S1
DoCM (Curated mutations)AP1S1
CIViC (Clinical Interpretations of Variants in Cancer)AP1S1
Cancer3DAP1S1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603531    609313   
Orphanet17941   
DisGeNETAP1S1
MedgenAP1S1
Genetic Testing Registry AP1S1
NextProtP61966 [Medical]
GENETestsAP1S1
Target ValidationAP1S1
Huge Navigator AP1S1 [HugePedia]
ClinGenAP1S1
Clinical trials, drugs, therapy
MyCancerGenomeAP1S1
Protein Interactions : CTDAP1S1
Pharm GKB GenePA24850
PharosP61966
Clinical trialAP1S1
Miscellaneous
canSAR (ICR)AP1S1
HarmonizomeAP1S1
ARCHS4AP1S1
DataMed IndexAP1S1
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAP1S1
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 20 12:22:40 CET 2022

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.