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ATP6V0A1 (ATPase H+ transporting V0 subunit a1)

Identity

Alias_namesVPP1
ATP6N1
ATP6N1A
ATPase, H transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)
ATPase, H transporting, lysosomal V0 subunit a isoform 1
ATPase, H transporting, lysosomal V0 subunit A1
ATPase, H transporting, lysosomal V0 subunit a1
Alias_symbol (synonym)a1
Vph1
Stv1
Other alias
HGNC (Hugo) ATP6V0A1
LocusID (NCBI) 535
Atlas_Id 725
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 40610862 and ends at 40674597 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP6V0A1 (17q21.2) / ATF6 (1q23.3)ATP6V0A1 (17q21.2) / ATP5J2-PTCD1 (7q22.1)ATP6V0A1 (17q21.2) / ATP6V0A1 (17q21.2)
ATP6V0A1 (17q21.2) / CACNA1B (9q34.3)ATP6V0A1 (17q21.2) / HLCS (21q22.13)ATP6V0A1 (17q21.2) / IER3 (6p21.33)
ATP6V0A1 (17q21.2) / MB (22q12.3)ATP6V0A1 (17q21.2) / MSI2 (17q22)ATP6V0A1 (17q21.2) / OSBPL3 (7p15.3)
ATP6V0A1 (17q21.2) / STAT5A (17q21.2)ATP6V0A1 (17q21.2) / WDR59 (16q23.1)IFT140 (16p13.3) / ATP6V0A1 (17q21.2)
MEST (7q32.2) / ATP6V0A1 (17q21.2)SBF2 (11p15.4) / ATP6V0A1 (17q21.2)ATP6V0A1 17q21.2 / ATF6 1q23.3
ATP6V0A1 17q21.2 / MB 22q12.3ATP6V0A1 17q21.2 / MSI2 17q22ATP6V0A1 17q21.2 / STAT5A 17q21.2

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)ATP6V0A1   865
Cards
Entrez_Gene (NCBI)ATP6V0A1  535  ATPase H+ transporting V0 subunit a1
AliasesATP6N1; ATP6N1A; Stv1; VPP1; 
Vph1; a1
GeneCards (Weizmann)ATP6V0A1
Ensembl hg19 (Hinxton)ENSG00000033627 [Gene_View]  chr17:40610862-40674597 [Contig_View]  ATP6V0A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000033627 [Gene_View]  chr17:40610862-40674597 [Contig_View]  ATP6V0A1 [Vega]
ICGC DataPortalENSG00000033627
TCGA cBioPortalATP6V0A1
AceView (NCBI)ATP6V0A1
Genatlas (Paris)ATP6V0A1
WikiGenes535
SOURCE (Princeton)ATP6V0A1
Genetics Home Reference (NIH)ATP6V0A1
Genomic and cartography
GoldenPath hg19 (UCSC)ATP6V0A1  -     chr17:40610862-40674597 +  17q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP6V0A1  -     17q21.2   [Description]    (hg38-Dec_2013)
EnsemblATP6V0A1 - 17q21.2 [CytoView hg19]  ATP6V0A1 - 17q21.2 [CytoView hg38]
Mapping of homologs : NCBIATP6V0A1 [Mapview hg19]  ATP6V0A1 [Mapview hg38]
OMIM192130   
Gene and transcription
Genbank (Entrez)AK098213 AK125927 AK223554 AK294512 AK294789
RefSeq transcript (Entrez)NM_001130020 NM_001130021 NM_005177
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)ATP6V0A1
Cluster EST : UnigeneHs.463074 [ NCBI ]
CGAP (NCI)Hs.463074
Alternative Splicing GalleryENSG00000033627
Gene ExpressionATP6V0A1 [ NCBI-GEO ]   ATP6V0A1 [ EBI - ARRAY_EXPRESS ]   ATP6V0A1 [ SEEK ]   ATP6V0A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V0A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)535
GTEX Portal (Tissue expression)ATP6V0A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ93050   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ93050  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ93050
Splice isoforms : SwissVarQ93050
PhosPhoSitePlusQ93050
Domains : Interpro (EBI)V-ATPase_116kDa_su    V-type_ATPase_116kDa_su_euka   
Domain families : Pfam (Sanger)V_ATPase_I (PF01496)   
Domain families : Pfam (NCBI)pfam01496   
Conserved Domain (NCBI)ATP6V0A1
DMDM Disease mutations535
Blocks (Seattle)ATP6V0A1
SuperfamilyQ93050
Human Protein AtlasENSG00000033627
Peptide AtlasQ93050
HPRD01886
IPIIPI00743576   IPI00796045   IPI01012001   IPI01012810   IPI01015798   IPI00892784   
Protein Interaction databases
DIP (DOE-UCLA)Q93050
IntAct (EBI)Q93050
FunCoupENSG00000033627
BioGRIDATP6V0A1
STRING (EMBL)ATP6V0A1
ZODIACATP6V0A1
Ontologies - Pathways
QuickGOQ93050
Ontology : AmiGOvacuolar proton-transporting V-type ATPase, V0 domain  protein binding  cell  nucleoplasm  cytoplasm  Golgi apparatus  plasma membrane  vacuolar acidification  insulin receptor signaling pathway  endosome membrane  ATP synthesis coupled proton transport  ATP hydrolysis coupled proton transport  integral component of membrane  regulation of macroautophagy  vacuolar proton-transporting V-type ATPase complex  phagocytic vesicle membrane  transferrin transport  ion transmembrane transport  melanosome  intracellular membrane-bounded organelle  proton-transporting ATPase activity, rotational mechanism  ATPase binding  extracellular exosome  vacuolar proton-transporting V-type ATPase complex assembly  phagosome acidification  toxin transport  
Ontology : EGO-EBIvacuolar proton-transporting V-type ATPase, V0 domain  protein binding  cell  nucleoplasm  cytoplasm  Golgi apparatus  plasma membrane  vacuolar acidification  insulin receptor signaling pathway  endosome membrane  ATP synthesis coupled proton transport  ATP hydrolysis coupled proton transport  integral component of membrane  regulation of macroautophagy  vacuolar proton-transporting V-type ATPase complex  phagocytic vesicle membrane  transferrin transport  ion transmembrane transport  melanosome  intracellular membrane-bounded organelle  proton-transporting ATPase activity, rotational mechanism  ATPase binding  extracellular exosome  vacuolar proton-transporting V-type ATPase complex assembly  phagosome acidification  toxin transport  
Pathways : KEGGOxidative phosphorylation    Lysosome    Phagosome    Synaptic vesicle cycle    Collecting duct acid secretion    Vibrio cholerae infection    Epithelial cell signaling in Helicobacter pylori infection    Tuberculosis    Rheumatoid arthritis   
NDEx NetworkATP6V0A1
Atlas of Cancer Signalling NetworkATP6V0A1
Wikipedia pathwaysATP6V0A1
Orthology - Evolution
OrthoDB535
GeneTree (enSembl)ENSG00000033627
Phylogenetic Trees/Animal Genes : TreeFamATP6V0A1
HOVERGENQ93050
HOGENOMQ93050
Homologs : HomoloGeneATP6V0A1
Homology/Alignments : Family Browser (UCSC)ATP6V0A1
Gene fusions - Rearrangements
Fusion : MitelmanATP6V0A1/ATF6 [17q21.2/1q23.3]  
Fusion : MitelmanATP6V0A1/MB [17q21.2/22q12.3]  [t(17;22)(q21;q12)]  
Fusion : MitelmanATP6V0A1/MSI2 [17q21.2/17q22]  [t(17;17)(q21;q22)]  
Fusion : MitelmanATP6V0A1/STAT5A [17q21.2/17q21.2]  [t(17;17)(q21;q21)]  
Fusion: TCGAATP6V0A1 17q21.2 ATF6 1q23.3 BRCA
Fusion: TCGAATP6V0A1 17q21.2 MB 22q12.3 GBM
Fusion: TCGAATP6V0A1 17q21.2 MSI2 17q22 BRCA
Fusion: TCGAATP6V0A1 17q21.2 STAT5A 17q21.2 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V0A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V0A1
dbVarATP6V0A1
ClinVarATP6V0A1
1000_GenomesATP6V0A1 
Exome Variant ServerATP6V0A1
ExAC (Exome Aggregation Consortium)ATP6V0A1 (select the gene name)
Genetic variants : HAPMAP535
Genomic Variants (DGV)ATP6V0A1 [DGVbeta]
DECIPHER (Syndromes)17:40610862-40674597  ENSG00000033627
CONAN: Copy Number AnalysisATP6V0A1 
Mutations
ICGC Data PortalATP6V0A1 
TCGA Data PortalATP6V0A1 
Broad Tumor PortalATP6V0A1
OASIS PortalATP6V0A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V0A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V0A1
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 ATP6V0A1
DgiDB (Drug Gene Interaction Database)ATP6V0A1
DoCM (Curated mutations)ATP6V0A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V0A1 (select a term)
intoGenATP6V0A1
Cancer3DATP6V0A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM192130   
Orphanet
MedgenATP6V0A1
Genetic Testing Registry ATP6V0A1
NextProtQ93050 [Medical]
TSGene535
GENETestsATP6V0A1
Huge Navigator ATP6V0A1 [HugePedia]
snp3D : Map Gene to Disease535
BioCentury BCIQATP6V0A1
ClinGenATP6V0A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD535
Chemical/Pharm GKB GenePA25146
Clinical trialATP6V0A1
Miscellaneous
canSAR (ICR)ATP6V0A1 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V0A1
EVEXATP6V0A1
GoPubMedATP6V0A1
iHOPATP6V0A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:53:27 CEST 2017

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