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ATP6V1D (ATPase H+ transporting V1 subunit D)

Identity

Alias (NCBI)ATP6M
VATD
VMA8
HGNC (Hugo) ATP6V1D
HGNC Alias symbVATD
VMA8
HGNC Previous nameATP6M
HGNC Previous nameATPase, H+ transporting, lysosomal (vacuolar proton pump)
 ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D
LocusID (NCBI) 51382
Atlas_Id 60644
Location 14q23.3  [Link to chromosome band 14q23]
Location_base_pair Starts at 67337872 and ends at 67359804 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)
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    ATPase H+ transporting V1 subunit D
AliasesATP6M; VATD; VMA8
GeneCards (Weizmann)ATP6V1D
Ensembl hg19 (Hinxton)ENSG00000100554 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100554 [Gene_View]  ENSG00000100554 [Sequence]  chr14:67337872-67359804 [Contig_View]  ATP6V1D [Vega]
ICGC DataPortalENSG00000100554
TCGA cBioPortalATP6V1D
AceView (NCBI)ATP6V1D
Genatlas (Paris)ATP6V1D
SOURCE (Princeton)ATP6V1D
Genetics Home Reference (NIH)ATP6V1D
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V1D  -     chr14:67337872-67359804 -  14q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V1D  -     14q23.3   [Description]    (hg19-Feb_2009)
GoldenPathATP6V1D - 14q23.3 [CytoView hg19]  ATP6V1D - 14q23.3 [CytoView hg38]
ImmunoBaseENSG00000100554
Genome Data Viewer NCBIATP6V1D [Mapview hg19]  
OMIM609398   
Gene and transcription
Genbank (Entrez)AF077614 AF100741 AF104629 AF145316 AK001155
RefSeq transcript (Entrez)NM_015994
Consensus coding sequences : CCDS (NCBI)ATP6V1D
Gene ExpressionATP6V1D [ NCBI-GEO ]   ATP6V1D [ EBI - ARRAY_EXPRESS ]   ATP6V1D [ SEEK ]   ATP6V1D [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1D [ Firebrowse - Broad ]
GenevisibleExpression of ATP6V1D in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51382
GTEX Portal (Tissue expression)ATP6V1D
Human Protein AtlasENSG00000100554-ATP6V1D [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9Y5K8
Domains : Interpro (EBI)V_ATPase_D   
Domain families : Pfam (Sanger)ATP-synt_D (PF01813)   
Domain families : Pfam (NCBI)pfam01813   
Conserved Domain (NCBI)ATP6V1D
SuperfamilyQ9Y5K8
AlphaFold pdb e-kbQ9Y5K8   
Human Protein Atlas [tissue]ENSG00000100554-ATP6V1D [tissue]
HPRD16524
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  membrane  regulation of macroautophagy  proton-transporting V-type ATPase complex  proton-transporting V-type ATPase complex  transferrin transport  cellular response to amino acid starvation  ion transmembrane transport  specific granule membrane  neutrophil degranulation  proton-transporting ATPase activity, rotational mechanism  cilium assembly  protein localization to cilium  extracellular exosome  phagosome acidification  proton transmembrane transport  
Ontology : EGO-EBIprotein binding  lysosomal membrane  centrosome  cytosol  plasma membrane  cilium  insulin receptor signaling pathway  membrane  regulation of macroautophagy  proton-transporting V-type ATPase complex  proton-transporting V-type ATPase complex  transferrin transport  cellular response to amino acid starvation  ion transmembrane transport  specific granule membrane  neutrophil degranulation  proton-transporting ATPase activity, rotational mechanism  cilium assembly  protein localization to cilium  extracellular exosome  phagosome acidification  proton transmembrane transport  
Pathways : KEGGOxidative phosphorylation    Epithelial cell signaling in Helicobacter pylori infection    ATP synthesis   
NDEx NetworkATP6V1D
Atlas of Cancer Signalling NetworkATP6V1D
Wikipedia pathwaysATP6V1D
Orthology - Evolution
OrthoDB51382
GeneTree (enSembl)ENSG00000100554
Phylogenetic Trees/Animal Genes : TreeFamATP6V1D
Homologs : HomoloGeneATP6V1D
Homology/Alignments : Family Browser (UCSC)ATP6V1D
Gene fusions - Rearrangements
Fusion : QuiverATP6V1D
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1D [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1D
dbVarATP6V1D
ClinVarATP6V1D
MonarchATP6V1D
1000_GenomesATP6V1D 
Exome Variant ServerATP6V1D
GNOMAD BrowserENSG00000100554
Varsome BrowserATP6V1D
ACMGATP6V1D variants
VarityQ9Y5K8
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]  
Somatic Mutations in Cancer : COSMIC3DATP6V1D
Mutations and Diseases : HGMDATP6V1D
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaATP6V1D
DgiDB (Drug Gene Interaction Database)ATP6V1D
DoCM (Curated mutations)ATP6V1D
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1D
Cancer3DATP6V1D
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609398   
Orphanet
DisGeNETATP6V1D
MedgenATP6V1D
Genetic Testing Registry ATP6V1D
NextProtQ9Y5K8 [Medical]
GENETestsATP6V1D
Target ValidationATP6V1D
Huge Navigator ATP6V1D [HugePedia]
ClinGenATP6V1D
Clinical trials, drugs, therapy
MyCancerGenomeATP6V1D
Protein Interactions : CTDATP6V1D
Pharm GKB GenePA25157
PharosQ9Y5K8
Clinical trialATP6V1D
Miscellaneous
canSAR (ICR)ATP6V1D
HarmonizomeATP6V1D
DataMed IndexATP6V1D
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATP6V1D
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:42:59 CEST 2021

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