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ATP6V0A4 (ATPase H+ transporting V0 subunit a4)

Identity

Alias_namesATP6N1B
ATP6N2
RTA1C
ATPase, H transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B
ATPase, H transporting, lysosomal V0 subunit a isoform 4
ATPase, H transporting, lysosomal V0 subunit A4
ATPase, H transporting, lysosomal V0 subunit a4
Alias_symbol (synonym)RDRTA2
VPP2
RTADR
a4
Vph1
Stv1
Other aliasA4
STV1
VPH1
HGNC (Hugo) ATP6V0A4
LocusID (NCBI) 50617
Atlas_Id 51128
Location 7q34  [Link to chromosome band 7q34]
Location_base_pair Starts at 138706294 and ends at 138798196 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CTSA (20q13.12) / ATP6V0A4 (7q34)

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)ATP6V0A4   866
Cards
Entrez_Gene (NCBI)ATP6V0A4  50617  ATPase H+ transporting V0 subunit a4
AliasesA4; ATP6N1B; ATP6N2; RDRTA2; 
RTA1C; RTADR; STV1; VPH1; VPP2
GeneCards (Weizmann)ATP6V0A4
Ensembl hg19 (Hinxton)ENSG00000105929 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105929 [Gene_View]  chr7:138706294-138798196 [Contig_View]  ATP6V0A4 [Vega]
ICGC DataPortalENSG00000105929
TCGA cBioPortalATP6V0A4
AceView (NCBI)ATP6V0A4
Genatlas (Paris)ATP6V0A4
WikiGenes50617
SOURCE (Princeton)ATP6V0A4
Genetics Home Reference (NIH)ATP6V0A4
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V0A4  -     chr7:138706294-138798196 -  7q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V0A4  -     7q34   [Description]    (hg19-Feb_2009)
EnsemblATP6V0A4 - 7q34 [CytoView hg19]  ATP6V0A4 - 7q34 [CytoView hg38]
Mapping of homologs : NCBIATP6V0A4 [Mapview hg19]  ATP6V0A4 [Mapview hg38]
OMIM602722   605239   
Gene and transcription
Genbank (Entrez)AF245517 AK055789 AK292945 BC109304 BC109305
RefSeq transcript (Entrez)NM_020632 NM_130840 NM_130841
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP6V0A4
Cluster EST : UnigeneHs.98967 [ NCBI ]
CGAP (NCI)Hs.98967
Alternative Splicing GalleryENSG00000105929
Gene ExpressionATP6V0A4 [ NCBI-GEO ]   ATP6V0A4 [ EBI - ARRAY_EXPRESS ]   ATP6V0A4 [ SEEK ]   ATP6V0A4 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V0A4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50617
GTEX Portal (Tissue expression)ATP6V0A4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HBG4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HBG4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HBG4
Splice isoforms : SwissVarQ9HBG4
PhosPhoSitePlusQ9HBG4
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)ATP6V0A4
DMDM Disease mutations50617
Blocks (Seattle)ATP6V0A4
SuperfamilyQ9HBG4
Human Protein AtlasENSG00000105929
Peptide AtlasQ9HBG4
HPRD05576
IPIIPI00009852   IPI00382415   
Protein Interaction databases
DIP (DOE-UCLA)Q9HBG4
IntAct (EBI)Q9HBG4
FunCoupENSG00000105929
BioGRIDATP6V0A4
STRING (EMBL)ATP6V0A4
ZODIACATP6V0A4
Ontologies - Pathways
QuickGOQ9HBG4
Ontology : AmiGOvacuolar proton-transporting V-type ATPase, V0 domain  ossification  protein binding  lysosomal membrane  endosome  plasma membrane  regulation of pH  vacuolar acidification  excretion  sensory perception of sound  insulin receptor signaling pathway  endosome membrane  ATP synthesis coupled proton transport  ATP hydrolysis coupled proton transport  proton transport  integral component of membrane  apical plasma membrane  vacuolar proton-transporting V-type ATPase complex  phagocytic vesicle membrane  brush border membrane  transferrin transport  ion transmembrane transport  apical part of cell  proton-transporting ATPase activity, rotational mechanism  ATPase binding  extracellular exosome  vacuolar proton-transporting V-type ATPase complex assembly  phagosome acidification  
Ontology : EGO-EBIvacuolar proton-transporting V-type ATPase, V0 domain  ossification  protein binding  lysosomal membrane  endosome  plasma membrane  regulation of pH  vacuolar acidification  excretion  sensory perception of sound  insulin receptor signaling pathway  endosome membrane  ATP synthesis coupled proton transport  ATP hydrolysis coupled proton transport  proton transport  integral component of membrane  apical plasma membrane  vacuolar proton-transporting V-type ATPase complex  phagocytic vesicle membrane  brush border membrane  transferrin transport  ion transmembrane transport  apical part of cell  proton-transporting ATPase activity, rotational mechanism  ATPase binding  extracellular exosome  vacuolar proton-transporting V-type ATPase complex assembly  phagosome acidification  
Pathways : KEGG   
NDEx NetworkATP6V0A4
Atlas of Cancer Signalling NetworkATP6V0A4
Wikipedia pathwaysATP6V0A4
Orthology - Evolution
OrthoDB50617
GeneTree (enSembl)ENSG00000105929
Phylogenetic Trees/Animal Genes : TreeFamATP6V0A4
HOVERGENQ9HBG4
HOGENOMQ9HBG4
Homologs : HomoloGeneATP6V0A4
Homology/Alignments : Family Browser (UCSC)ATP6V0A4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V0A4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V0A4
dbVarATP6V0A4
ClinVarATP6V0A4
1000_GenomesATP6V0A4 
Exome Variant ServerATP6V0A4
ExAC (Exome Aggregation Consortium)ATP6V0A4 (select the gene name)
Genetic variants : HAPMAP50617
Genomic Variants (DGV)ATP6V0A4 [DGVbeta]
DECIPHERATP6V0A4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6V0A4 
Mutations
ICGC Data PortalATP6V0A4 
TCGA Data PortalATP6V0A4 
Broad Tumor PortalATP6V0A4
OASIS PortalATP6V0A4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V0A4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V0A4
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 ATP6V0A4
DgiDB (Drug Gene Interaction Database)ATP6V0A4
DoCM (Curated mutations)ATP6V0A4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V0A4 (select a term)
intoGenATP6V0A4
Cancer3DATP6V0A4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602722    605239   
Orphanet22876   
MedgenATP6V0A4
Genetic Testing Registry ATP6V0A4
NextProtQ9HBG4 [Medical]
TSGene50617
GENETestsATP6V0A4
Target ValidationATP6V0A4
Huge Navigator ATP6V0A4 [HugePedia]
snp3D : Map Gene to Disease50617
BioCentury BCIQATP6V0A4
ClinGenATP6V0A4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD50617
Chemical/Pharm GKB GenePA25147
Clinical trialATP6V0A4
Miscellaneous
canSAR (ICR)ATP6V0A4 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V0A4
EVEXATP6V0A4
GoPubMedATP6V0A4
iHOPATP6V0A4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:47:35 CEST 2017

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