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ATP6V1D (ATPase H+ transporting V1 subunit D)

Identity

Alias_namesATP6M
ATPase, H+ transporting, lysosomal (vacuolar proton pump)
ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D
Alias_symbol (synonym)VATD
VMA8
Other alias
HGNC (Hugo) ATP6V1D
LocusID (NCBI) 51382
Atlas_Id 60644
Location 14q23.3  [Link to chromosome band 14q23]
Location_base_pair Starts at 67337864 and ends at 67360003 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP6V1D (14q23.3) / CBS (21q22.3)ATP6V1D (14q23.3) / LPCAT2 (16q12.2)ATP6V1D (14q23.3) / P3H2 (3q28)
ATP6V1D (14q23.3) / RPA1 (17p13.3)

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)ATP6V1D   13527
Cards
Entrez_Gene (NCBI)ATP6V1D  51382  ATPase H+ transporting V1 subunit D
AliasesATP6M; VATD; VMA8
GeneCards (Weizmann)ATP6V1D
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr14:67337864-67360003 [Contig_View]  ATP6V1D [Vega]
TCGA cBioPortalATP6V1D
AceView (NCBI)ATP6V1D
Genatlas (Paris)ATP6V1D
WikiGenes51382
SOURCE (Princeton)ATP6V1D
Genetics Home Reference (NIH)ATP6V1D
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V1D  -     chr14:67337864-67360003 -  14q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V1D  -     14q23.3   [Description]    (hg19-Feb_2009)
EnsemblATP6V1D - 14q23.3 [CytoView hg19]  ATP6V1D - 14q23.3 [CytoView hg38]
Mapping of homologs : NCBIATP6V1D [Mapview hg19]  ATP6V1D [Mapview hg38]
OMIM609398   
Gene and transcription
Genbank (Entrez)AF077614 AF100741 AF104629 AF145316 AK001155
RefSeq transcript (Entrez)NM_015994
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP6V1D
Cluster EST : UnigeneHs.272630 [ NCBI ]
CGAP (NCI)Hs.272630
Gene ExpressionATP6V1D [ NCBI-GEO ]   ATP6V1D [ EBI - ARRAY_EXPRESS ]   ATP6V1D [ SEEK ]   ATP6V1D [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1D [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51382
GTEX Portal (Tissue expression)ATP6V1D
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5K8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5K8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5K8
Splice isoforms : SwissVarQ9Y5K8
PhosPhoSitePlusQ9Y5K8
Domains : Interpro (EBI)V_ATPase_D   
Domain families : Pfam (Sanger)ATP-synt_D (PF01813)   
Domain families : Pfam (NCBI)pfam01813   
Conserved Domain (NCBI)ATP6V1D
DMDM Disease mutations51382
Blocks (Seattle)ATP6V1D
SuperfamilyQ9Y5K8
Peptide AtlasQ9Y5K8
HPRD16524
IPIIPI00001568   IPI00385952   IPI01026536   IPI01026192   IPI01026314   IPI01025845   IPI01025474   IPI01025577   IPI01025217   IPI01025335   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5K8
IntAct (EBI)Q9Y5K8
BioGRIDATP6V1D
STRING (EMBL)ATP6V1D
ZODIACATP6V1D
Ontologies - Pathways
QuickGOQ9Y5K8
Ontology : AmiGOprotein binding  lysosomal membrane  centrosome  cytosol  plasma membrane  cilium  insulin receptor signaling pathway  proton transport  membrane  regulation of macroautophagy  proton-transporting V-type ATPase complex  transferrin transport  ion transmembrane transport  specific granule membrane  ATPase activity, coupled to transmembrane movement of substances  neutrophil degranulation  cilium assembly  protein localization to cilium  extracellular exosome  phagosome acidification  
Ontology : EGO-EBIprotein binding  lysosomal membrane  centrosome  cytosol  plasma membrane  cilium  insulin receptor signaling pathway  proton transport  membrane  regulation of macroautophagy  proton-transporting V-type ATPase complex  transferrin transport  ion transmembrane transport  specific granule membrane  ATPase activity, coupled to transmembrane movement of substances  neutrophil degranulation  cilium assembly  protein localization to cilium  extracellular exosome  phagosome acidification  
Pathways : KEGGOxidative phosphorylation    Phagosome    Synaptic vesicle cycle    Collecting duct acid secretion    Vibrio cholerae infection    Epithelial cell signaling in Helicobacter pylori infection    Rheumatoid arthritis   
NDEx NetworkATP6V1D
Atlas of Cancer Signalling NetworkATP6V1D
Wikipedia pathwaysATP6V1D
Orthology - Evolution
OrthoDB51382
Phylogenetic Trees/Animal Genes : TreeFamATP6V1D
HOVERGENQ9Y5K8
HOGENOMQ9Y5K8
Homologs : HomoloGeneATP6V1D
Homology/Alignments : Family Browser (UCSC)ATP6V1D
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1D
dbVarATP6V1D
ClinVarATP6V1D
1000_GenomesATP6V1D 
Exome Variant ServerATP6V1D
ExAC (Exome Aggregation Consortium)ATP6V1D (select the gene name)
Genetic variants : HAPMAP51382
Genomic Variants (DGV)ATP6V1D [DGVbeta]
DECIPHERATP6V1D [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6V1D 
Mutations
ICGC Data PortalATP6V1D 
TCGA Data PortalATP6V1D 
Broad Tumor PortalATP6V1D
OASIS PortalATP6V1D [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V1D  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V1D
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATP6V1D
DgiDB (Drug Gene Interaction Database)ATP6V1D
DoCM (Curated mutations)ATP6V1D (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1D (select a term)
intoGenATP6V1D
Cancer3DATP6V1D(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609398   
Orphanet
MedgenATP6V1D
Genetic Testing Registry ATP6V1D
NextProtQ9Y5K8 [Medical]
TSGene51382
GENETestsATP6V1D
Target ValidationATP6V1D
Huge Navigator ATP6V1D [HugePedia]
snp3D : Map Gene to Disease51382
BioCentury BCIQATP6V1D
ClinGenATP6V1D
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51382
Chemical/Pharm GKB GenePA25157
Clinical trialATP6V1D
Miscellaneous
canSAR (ICR)ATP6V1D (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V1D
EVEXATP6V1D
GoPubMedATP6V1D
iHOPATP6V1D
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:39:15 CEST 2017

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