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ATP6V0D1 (ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1)

Identity

Alias_namesATP6D
ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D
ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1
ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1
ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1
Alias_symbol (synonym)ATP6DV
VATX
VPATPD
P39
Vma6
Other aliasVMA6
HGNC (Hugo) ATP6V0D1
LocusID (NCBI) 9114
Atlas_Id 60636
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 67471917 and ends at 67515089 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP6V0D1 (16q22.1) / ATP6V0D1 (16q22.1)ATP6V0D1 (16q22.1) / DUS2 (16q22.1)ATP6V0D1 (16q22.1) / FABP7 (6q22.31)
ATP6V0D1 (16q22.1) / RPS7 (2p25.3)NCK2 (2q12.2) / ATP6V0D1 (16q22.1)

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)ATP6V0D1   13724
Cards
Entrez_Gene (NCBI)ATP6V0D1  9114  ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1
AliasesATP6D; ATP6DV; P39; VATX; 
VMA6; VPATPD
GeneCards (Weizmann)ATP6V0D1
Ensembl hg19 (Hinxton)ENSG00000159720 [Gene_View]  chr16:67471917-67515089 [Contig_View]  ATP6V0D1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000159720 [Gene_View]  chr16:67471917-67515089 [Contig_View]  ATP6V0D1 [Vega]
ICGC DataPortalENSG00000159720
TCGA cBioPortalATP6V0D1
AceView (NCBI)ATP6V0D1
Genatlas (Paris)ATP6V0D1
WikiGenes9114
SOURCE (Princeton)ATP6V0D1
Genetics Home Reference (NIH)ATP6V0D1
Genomic and cartography
GoldenPath hg19 (UCSC)ATP6V0D1  -     chr16:67471917-67515089 -  16q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP6V0D1  -     16q22.1   [Description]    (hg38-Dec_2013)
EnsemblATP6V0D1 - 16q22.1 [CytoView hg19]  ATP6V0D1 - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBIATP6V0D1 [Mapview hg19]  ATP6V0D1 [Mapview hg38]
OMIM607028   
Gene and transcription
Genbank (Entrez)AK125522 AK128641 AK300570 AK301630 AK313035
RefSeq transcript (Entrez)NM_004691
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_011482 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)ATP6V0D1
Cluster EST : UnigeneHs.106876 [ NCBI ]
CGAP (NCI)Hs.106876
Alternative Splicing GalleryENSG00000159720
Gene ExpressionATP6V0D1 [ NCBI-GEO ]   ATP6V0D1 [ EBI - ARRAY_EXPRESS ]   ATP6V0D1 [ SEEK ]   ATP6V0D1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V0D1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9114
GTEX Portal (Tissue expression)ATP6V0D1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP61421   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP61421  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP61421
Splice isoforms : SwissVarP61421
PhosPhoSitePlusP61421
Domains : Interpro (EBI)ATPase_V0-cplx_csu/dsu    ATPase_V0-cplx_dsu   
Domain families : Pfam (Sanger)vATP-synt_AC39 (PF01992)   
Domain families : Pfam (NCBI)pfam01992   
Conserved Domain (NCBI)ATP6V0D1
DMDM Disease mutations9114
Blocks (Seattle)ATP6V0D1
SuperfamilyP61421
Human Protein AtlasENSG00000159720
Peptide AtlasP61421
HPRD06121
IPIIPI00034159   IPI00922223   IPI00943212   
Protein Interaction databases
DIP (DOE-UCLA)P61421
IntAct (EBI)P61421
FunCoupENSG00000159720
BioGRIDATP6V0D1
STRING (EMBL)ATP6V0D1
ZODIACATP6V0D1
Ontologies - Pathways
QuickGOP61421
Ontology : AmiGOprotein binding  lysosomal membrane  early endosome  centrosome  cellular iron ion homeostasis  brain development  synaptic vesicle  insulin receptor signaling pathway  hydrogen-exporting ATPase activity, phosphorylative mechanism  endosome membrane  ATP hydrolysis coupled proton transport  proton transport  membrane  apical plasma membrane  vacuolar proton-transporting V-type ATPase complex  vacuolar proton-transporting V-type ATPase complex  phagocytic vesicle membrane  endoplasmic reticulum unfolded protein response  protein complex binding  proton-transporting V-type ATPase, V0 domain  transferrin transport  ion transmembrane transport  IRE1-mediated unfolded protein response  cilium assembly  axon terminus  cellular protein metabolic process  interaction with host  transmembrane transport  extracellular exosome  phagosome maturation  
Ontology : EGO-EBIprotein binding  lysosomal membrane  early endosome  centrosome  cellular iron ion homeostasis  brain development  synaptic vesicle  insulin receptor signaling pathway  hydrogen-exporting ATPase activity, phosphorylative mechanism  endosome membrane  ATP hydrolysis coupled proton transport  proton transport  membrane  apical plasma membrane  vacuolar proton-transporting V-type ATPase complex  vacuolar proton-transporting V-type ATPase complex  phagocytic vesicle membrane  endoplasmic reticulum unfolded protein response  protein complex binding  proton-transporting V-type ATPase, V0 domain  transferrin transport  ion transmembrane transport  IRE1-mediated unfolded protein response  cilium assembly  axon terminus  cellular protein metabolic process  interaction with host  transmembrane transport  extracellular exosome  phagosome maturation  
Pathways : KEGGOxidative phosphorylation    Lysosome    Phagosome    Synaptic vesicle cycle    Collecting duct acid secretion    Vibrio cholerae infection    Epithelial cell signaling in Helicobacter pylori infection    Tuberculosis    Viral carcinogenesis    Rheumatoid arthritis   
NDEx NetworkATP6V0D1
Atlas of Cancer Signalling NetworkATP6V0D1
Wikipedia pathwaysATP6V0D1
Orthology - Evolution
OrthoDB9114
GeneTree (enSembl)ENSG00000159720
Phylogenetic Trees/Animal Genes : TreeFamATP6V0D1
HOVERGENP61421
HOGENOMP61421
Homologs : HomoloGeneATP6V0D1
Homology/Alignments : Family Browser (UCSC)ATP6V0D1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V0D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V0D1
dbVarATP6V0D1
ClinVarATP6V0D1
1000_GenomesATP6V0D1 
Exome Variant ServerATP6V0D1
ExAC (Exome Aggregation Consortium)ATP6V0D1 (select the gene name)
Genetic variants : HAPMAP9114
Genomic Variants (DGV)ATP6V0D1 [DGVbeta]
DECIPHER (Syndromes)16:67471917-67515089  ENSG00000159720
CONAN: Copy Number AnalysisATP6V0D1 
Mutations
ICGC Data PortalATP6V0D1 
TCGA Data PortalATP6V0D1 
Broad Tumor PortalATP6V0D1
OASIS PortalATP6V0D1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V0D1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V0D1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATP6V0D1
DgiDB (Drug Gene Interaction Database)ATP6V0D1
DoCM (Curated mutations)ATP6V0D1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V0D1 (select a term)
intoGenATP6V0D1
Cancer3DATP6V0D1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607028   
Orphanet
MedgenATP6V0D1
Genetic Testing Registry ATP6V0D1
NextProtP61421 [Medical]
TSGene9114
GENETestsATP6V0D1
Huge Navigator ATP6V0D1 [HugePedia]
snp3D : Map Gene to Disease9114
BioCentury BCIQATP6V0D1
ClinGenATP6V0D1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9114
Chemical/Pharm GKB GenePA25150
Clinical trialATP6V0D1
Miscellaneous
canSAR (ICR)ATP6V0D1 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V0D1
EVEXATP6V0D1
GoPubMedATP6V0D1
iHOPATP6V0D1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:55:25 CET 2017

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