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ATP6V1A (ATPase H+ transporting V1 subunit A)

Identity

Alias_namesVPP2
ATP6A1
ATP6V1A1
ATPase, H transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1
ATPase, H transporting, lysosomal 70kDa, V1 subunit A
Alias_symbol (synonym)Vma1
VA68
Other aliasARCL2D
HO68
HGNC (Hugo) ATP6V1A
LocusID (NCBI) 523
Atlas_Id 55677
Location 3q13.31  [Link to chromosome band 3q13]
Location_base_pair Starts at 113747019 and ends at 113812058 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)
ATP6V1A (3q13.2) / OPA1 (3q29)ATP6V1A (3q13.2) / TEX264 (3p21.2)PTRF (17q21.2) / ATP6V1A (3q13.2)
VPS4B (18q21.33) / ATP6V1A (3q13.2)

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)ATP6V1A   851
Cards
Entrez_Gene (NCBI)ATP6V1A  523  ATPase H+ transporting V1 subunit A
AliasesARCL2D; ATP6A1; ATP6V1A1; HO68; 
VA68; VPP2; Vma1
GeneCards (Weizmann)ATP6V1A
Ensembl hg19 (Hinxton)ENSG00000114573 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114573 [Gene_View]  chr3:113747019-113812058 [Contig_View]  ATP6V1A [Vega]
ICGC DataPortalENSG00000114573
TCGA cBioPortalATP6V1A
AceView (NCBI)ATP6V1A
Genatlas (Paris)ATP6V1A
WikiGenes523
SOURCE (Princeton)ATP6V1A
Genetics Home Reference (NIH)ATP6V1A
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V1A  -     chr3:113747019-113812058 +  3q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V1A  -     3q13.31   [Description]    (hg19-Feb_2009)
EnsemblATP6V1A - 3q13.31 [CytoView hg19]  ATP6V1A - 3q13.31 [CytoView hg38]
Mapping of homologs : NCBIATP6V1A [Mapview hg19]  ATP6V1A [Mapview hg38]
OMIM607027   617403   
Gene and transcription
Genbank (Entrez)AF113129 AF339827 AK293804 AK295150 AK314779
RefSeq transcript (Entrez)NM_001690
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP6V1A
Cluster EST : UnigeneHs.477155 [ NCBI ]
CGAP (NCI)Hs.477155
Alternative Splicing GalleryENSG00000114573
Gene ExpressionATP6V1A [ NCBI-GEO ]   ATP6V1A [ EBI - ARRAY_EXPRESS ]   ATP6V1A [ SEEK ]   ATP6V1A [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)523
GTEX Portal (Tissue expression)ATP6V1A
Human Protein AtlasENSG00000114573-ATP6V1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP38606   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP38606  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP38606
Splice isoforms : SwissVarP38606
Catalytic activity : Enzyme3.6.3.14 [ Enzyme-Expasy ]   3.6.3.143.6.3.14 [ IntEnz-EBI ]   3.6.3.14 [ BRENDA ]   3.6.3.14 [ KEGG ]   
PhosPhoSitePlusP38606
Domaine pattern : Prosite (Expaxy)ATPASE_ALPHA_BETA (PS00152)   
Domains : Interpro (EBI)ATP-synth_a_Xtn    ATPase_a/bsu_AS    ATPase_F1/V1/A1_a/bsu_N    ATPase_F1/V1/A1_a/bsu_nucl-bd    ATPase_F1/V1_bsu_C    ATPase_V1-cplx_asu    P-loop_NTPase    V-ATPase_asu   
Domain families : Pfam (Sanger)ATP-synt_ab (PF00006)    ATP-synt_ab_N (PF02874)    ATP-synt_ab_Xtn (PF16886)   
Domain families : Pfam (NCBI)pfam00006    pfam02874    pfam16886   
Conserved Domain (NCBI)ATP6V1A
DMDM Disease mutations523
Blocks (Seattle)ATP6V1A
SuperfamilyP38606
Human Protein Atlas [tissue]ENSG00000114573-ATP6V1A [tissue]
Peptide AtlasP38606
HPRD06120
IPIIPI00007682   IPI00946636   IPI01010714   IPI00946288   IPI00946476   
Protein Interaction databases
DIP (DOE-UCLA)P38606
IntAct (EBI)P38606
FunCoupENSG00000114573
BioGRIDATP6V1A
STRING (EMBL)ATP6V1A
ZODIACATP6V1A
Ontologies - Pathways
QuickGOP38606
Ontology : AmiGOATP binding  mitochondrion  lysosomal membrane  cytosol  cytosol  plasma membrane  integral component of plasma membrane  microvillus  transport  insulin receptor signaling pathway  ATP hydrolysis coupled proton transport  regulation of macroautophagy  apical plasma membrane  proton-transporting two-sector ATPase complex  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  myelin sheath  ATP metabolic process  proton-transporting ATPase activity, rotational mechanism  extracellular exosome  phagosome acidification  
Ontology : EGO-EBIATP binding  mitochondrion  lysosomal membrane  cytosol  cytosol  plasma membrane  integral component of plasma membrane  microvillus  transport  insulin receptor signaling pathway  ATP hydrolysis coupled proton transport  regulation of macroautophagy  apical plasma membrane  proton-transporting two-sector ATPase complex  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  myelin sheath  ATP metabolic process  proton-transporting ATPase activity, rotational mechanism  extracellular exosome  phagosome acidification  
Pathways : KEGG   
NDEx NetworkATP6V1A
Atlas of Cancer Signalling NetworkATP6V1A
Wikipedia pathwaysATP6V1A
Orthology - Evolution
OrthoDB523
GeneTree (enSembl)ENSG00000114573
Phylogenetic Trees/Animal Genes : TreeFamATP6V1A
HOVERGENP38606
HOGENOMP38606
Homologs : HomoloGeneATP6V1A
Homology/Alignments : Family Browser (UCSC)ATP6V1A
Gene fusions - Rearrangements
Tumor Fusion PortalATP6V1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1A
dbVarATP6V1A
ClinVarATP6V1A
1000_GenomesATP6V1A 
Exome Variant ServerATP6V1A
ExAC (Exome Aggregation Consortium)ENSG00000114573
GNOMAD BrowserENSG00000114573
Genetic variants : HAPMAP523
Genomic Variants (DGV)ATP6V1A [DGVbeta]
DECIPHERATP6V1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6V1A 
Mutations
ICGC Data PortalATP6V1A 
TCGA Data PortalATP6V1A 
Broad Tumor PortalATP6V1A
OASIS PortalATP6V1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V1A
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 ATP6V1A
DgiDB (Drug Gene Interaction Database)ATP6V1A
DoCM (Curated mutations)ATP6V1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1A (select a term)
intoGenATP6V1A
Cancer3DATP6V1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607027    617403   
Orphanet
DisGeNETATP6V1A
MedgenATP6V1A
Genetic Testing Registry ATP6V1A
NextProtP38606 [Medical]
TSGene523
GENETestsATP6V1A
Target ValidationATP6V1A
Huge Navigator ATP6V1A [HugePedia]
snp3D : Map Gene to Disease523
BioCentury BCIQATP6V1A
ClinGenATP6V1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD523
Chemical/Pharm GKB GenePA25152
Clinical trialATP6V1A
Miscellaneous
canSAR (ICR)ATP6V1A (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V1A
EVEXATP6V1A
GoPubMedATP6V1A
iHOPATP6V1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:04:16 CET 2017

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