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

ATP6V0A1 (ATPase H+ transporting V0 subunit a1)

Identity

Alias (NCBI)ATP6N1
ATP6N1A
Stv1
VPP1
Vph1
a1
HGNC (Hugo) ATP6V0A1
HGNC Alias symba1
Vph1
Stv1
HGNC Alias namevacuolar proton pump subunit 1
 V-ATPase subunit a1
HGNC Previous nameVPP1
 ATP6N1
 ATP6N1A
HGNC Previous nameATPase, 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
LocusID (NCBI) 535
Atlas_Id 725
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 42458878 and ends at 42522611 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)
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    ATPase H+ transporting V0 subunit a1
AliasesATP6N1; ATP6N1A; Stv1; VPP1; 
Vph1; a1
GeneCards (Weizmann)ATP6V0A1
Ensembl hg19 (Hinxton)ENSG00000033627 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000033627 [Gene_View]  ENSG00000033627 [Sequence]  chr17:42458878-42522611 [Contig_View]  ATP6V0A1 [Vega]
ICGC DataPortalENSG00000033627
TCGA cBioPortalATP6V0A1
AceView (NCBI)ATP6V0A1
Genatlas (Paris)ATP6V0A1
SOURCE (Princeton)ATP6V0A1
Genetics Home Reference (NIH)ATP6V0A1
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V0A1  -     chr17:42458878-42522611 +  17q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V0A1  -     17q21.2   [Description]    (hg19-Feb_2009)
GoldenPathATP6V0A1 - 17q21.2 [CytoView hg19]  ATP6V0A1 - 17q21.2 [CytoView hg38]
ImmunoBaseENSG00000033627
Genome Data Viewer NCBIATP6V0A1 [Mapview hg19]  
OMIM192130   
Gene and transcription
Genbank (Entrez)AK098213 AK125927 AK223554 AK294512 AK294789
RefSeq transcript (Entrez)NM_001130020 NM_001130021 NM_001378522 NM_001378523 NM_001378530 NM_001378531 NM_001378532 NM_001378533 NM_001378534 NM_001378535 NM_001378536 NM_001378537 NM_001378538 NM_001378539 NM_001378540 NM_001378541 NM_001378542 NM_001378543 NM_001378544 NM_001378545 NM_001378546 NM_001378547 NM_001378548 NM_001378549 NM_001378550 NM_001378551 NM_001378552 NM_001378554 NM_001378556 NM_001378557 NM_005177
Consensus coding sequences : CCDS (NCBI)ATP6V0A1
Gene ExpressionATP6V0A1 [ NCBI-GEO ]   ATP6V0A1 [ EBI - ARRAY_EXPRESS ]   ATP6V0A1 [ SEEK ]   ATP6V0A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V0A1 [ Firebrowse - Broad ]
GenevisibleExpression of ATP6V0A1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)535
GTEX Portal (Tissue expression)ATP6V0A1
Human Protein AtlasENSG00000033627-ATP6V0A1 [pathology]   [cell]   [tissue]
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
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
SuperfamilyQ93050
AlphaFold pdb e-kbQ93050   
Human Protein Atlas [tissue]ENSG00000033627-ATP6V0A1 [tissue]
HPRD01886
Protein Interaction databases
DIP (DOE-UCLA)Q93050
IntAct (EBI)Q93050
BioGRIDATP6V0A1
STRING (EMBL)ATP6V0A1
ZODIACATP6V0A1
Ontologies - Pathways
QuickGOQ93050
Ontology : AmiGOvacuolar proton-transporting V-type ATPase, V0 domain  protein binding  lysosomal membrane  Golgi apparatus  cytosol  plasma membrane  plasma membrane  plasma membrane  vacuolar acidification  vacuolar acidification  insulin receptor signaling pathway  endosome membrane  integral component of membrane  regulation of macroautophagy  vacuolar proton-transporting V-type ATPase complex  nuclear speck  secretory granule membrane  phagocytic vesicle membrane  transferrin transport  ion transmembrane transport  melanosome  intracellular membrane-bounded organelle  neutrophil degranulation  proton-transporting ATPase activity, rotational mechanism  perinuclear region of cytoplasm  ATPase binding  ATPase binding  extracellular exosome  phagosome acidification  ficolin-1-rich granule membrane  toxin transport  proton transmembrane transport  
Ontology : EGO-EBIvacuolar proton-transporting V-type ATPase, V0 domain  protein binding  lysosomal membrane  Golgi apparatus  cytosol  plasma membrane  plasma membrane  plasma membrane  vacuolar acidification  vacuolar acidification  insulin receptor signaling pathway  endosome membrane  integral component of membrane  regulation of macroautophagy  vacuolar proton-transporting V-type ATPase complex  nuclear speck  secretory granule membrane  phagocytic vesicle membrane  transferrin transport  ion transmembrane transport  melanosome  intracellular membrane-bounded organelle  neutrophil degranulation  proton-transporting ATPase activity, rotational mechanism  perinuclear region of cytoplasm  ATPase binding  ATPase binding  extracellular exosome  phagosome acidification  ficolin-1-rich granule membrane  toxin transport  proton transmembrane 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
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]  
Fusion : MitelmanATP6V0A1/MSI2 [17q21.2/17q22]  
Fusion : MitelmanATP6V0A1/STAT5A [17q21.2/17q21.2]  
Fusion : QuiverATP6V0A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V0A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V0A1
dbVarATP6V0A1
ClinVarATP6V0A1
MonarchATP6V0A1
1000_GenomesATP6V0A1 
Exome Variant ServerATP6V0A1
GNOMAD BrowserENSG00000033627
Varsome BrowserATP6V0A1
ACMGATP6V0A1 variants
VarityQ93050
Genomic Variants (DGV)ATP6V0A1 [DGVbeta]
DECIPHERATP6V0A1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DATP6V0A1
Mutations and Diseases : HGMDATP6V0A1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaATP6V0A1
DgiDB (Drug Gene Interaction Database)ATP6V0A1
DoCM (Curated mutations)ATP6V0A1
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V0A1
Cancer3DATP6V0A1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM192130   
Orphanet
DisGeNETATP6V0A1
MedgenATP6V0A1
Genetic Testing Registry ATP6V0A1
NextProtQ93050 [Medical]
GENETestsATP6V0A1
Target ValidationATP6V0A1
Huge Navigator ATP6V0A1 [HugePedia]
ClinGenATP6V0A1
Clinical trials, drugs, therapy
MyCancerGenomeATP6V0A1
Protein Interactions : CTDATP6V0A1
Pharm GKB GenePA25146
PharosQ93050
Clinical trialATP6V0A1
Miscellaneous
canSAR (ICR)ATP6V0A1
HarmonizomeATP6V0A1
DataMed IndexATP6V0A1
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATP6V0A1
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 : Mon Oct 4 15:00:36 CEST 2021

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.