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ATP6V1C1 (ATPase H+ transporting V1 subunit C1)

Identity

Alias_namesATP6D
ATP6C
ATPase, H transporting, lysosomal (vacuolar proton pump) 42kD
ATPase, H transporting, lysosomal 42kDa, V1 subunit C, isoform 1
ATPase, H transporting, lysosomal 42kDa, V1 subunit C1
Alias_symbol (synonym)VATC
Vma5
Other alias
HGNC (Hugo) ATP6V1C1
LocusID (NCBI) 528
Atlas_Id 45846
Location 8q22.3  [Link to chromosome band 8q22]
Location_base_pair Starts at 104033248 and ends at 104085285 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP6V1C1 (8q22.3) / ATP6V1C1 (8q22.3)ATP6V1C1 (8q22.3) / RAB2A (8q12.1)AZIN1 (8q22.3) / ATP6V1C1 (8q22.3)
GBA2 (9p13.3) / ATP6V1C1 (8q22.3)RIMS2 (8q22.3) / ATP6V1C1 (8q22.3)AZIN1 8q22.3 / ATP6V1C1 8q22.3
GBA2 9p13.3 / ATP6V1C1 8q22.3

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)ATP6V1C1   856
Cards
Entrez_Gene (NCBI)ATP6V1C1  528  ATPase H+ transporting V1 subunit C1
AliasesATP6C; ATP6D; VATC; Vma5
GeneCards (Weizmann)ATP6V1C1
Ensembl hg19 (Hinxton)ENSG00000155097 [Gene_View]  chr8:104033248-104085285 [Contig_View]  ATP6V1C1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000155097 [Gene_View]  chr8:104033248-104085285 [Contig_View]  ATP6V1C1 [Vega]
ICGC DataPortalENSG00000155097
TCGA cBioPortalATP6V1C1
AceView (NCBI)ATP6V1C1
Genatlas (Paris)ATP6V1C1
WikiGenes528
SOURCE (Princeton)ATP6V1C1
Genetics Home Reference (NIH)ATP6V1C1
Genomic and cartography
GoldenPath hg19 (UCSC)ATP6V1C1  -     chr8:104033248-104085285 +  8q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP6V1C1  -     8q22.3   [Description]    (hg38-Dec_2013)
EnsemblATP6V1C1 - 8q22.3 [CytoView hg19]  ATP6V1C1 - 8q22.3 [CytoView hg38]
Mapping of homologs : NCBIATP6V1C1 [Mapview hg19]  ATP6V1C1 [Mapview hg38]
OMIM603097   
Gene and transcription
Genbank (Entrez)AA242944 AK000064 AK090702 AK298617 AK308632
RefSeq transcript (Entrez)NM_001007254 NM_001695
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)ATP6V1C1
Cluster EST : UnigeneHs.86905 [ NCBI ]
CGAP (NCI)Hs.86905
Alternative Splicing GalleryENSG00000155097
Gene ExpressionATP6V1C1 [ NCBI-GEO ]   ATP6V1C1 [ EBI - ARRAY_EXPRESS ]   ATP6V1C1 [ SEEK ]   ATP6V1C1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1C1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)528
GTEX Portal (Tissue expression)ATP6V1C1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21283   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21283  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21283
Splice isoforms : SwissVarP21283
PhosPhoSitePlusP21283
Domains : Interpro (EBI)ATPase_V1-cplx_csu   
Domain families : Pfam (Sanger)V-ATPase_C (PF03223)   
Domain families : Pfam (NCBI)pfam03223   
Conserved Domain (NCBI)ATP6V1C1
DMDM Disease mutations528
Blocks (Seattle)ATP6V1C1
SuperfamilyP21283
Human Protein AtlasENSG00000155097
Peptide AtlasP21283
HPRD04371
IPIIPI00007814   IPI00976996   IPI00983141   
Protein Interaction databases
DIP (DOE-UCLA)P21283
IntAct (EBI)P21283
FunCoupENSG00000155097
BioGRIDATP6V1C1
STRING (EMBL)ATP6V1C1
ZODIACATP6V1C1
Ontologies - Pathways
QuickGOP21283
Ontology : AmiGOtransporter activity  protein binding  lysosomal membrane  cytosol  plasma membrane  insulin receptor signaling pathway  hydrogen-exporting ATPase activity, phosphorylative mechanism  ATP hydrolysis coupled proton transport  proton transport  regulation of macroautophagy  proton-transporting two-sector ATPase complex  cytoplasmic vesicle  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  apical part of cell  proton-transporting ATPase activity, rotational mechanism  extracellular exosome  phagosome acidification  
Ontology : EGO-EBItransporter activity  protein binding  lysosomal membrane  cytosol  plasma membrane  insulin receptor signaling pathway  hydrogen-exporting ATPase activity, phosphorylative mechanism  ATP hydrolysis coupled proton transport  proton transport  regulation of macroautophagy  proton-transporting two-sector ATPase complex  cytoplasmic vesicle  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  apical part of cell  proton-transporting ATPase activity, rotational mechanism  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 NetworkATP6V1C1
Atlas of Cancer Signalling NetworkATP6V1C1
Wikipedia pathwaysATP6V1C1
Orthology - Evolution
OrthoDB528
GeneTree (enSembl)ENSG00000155097
Phylogenetic Trees/Animal Genes : TreeFamATP6V1C1
HOVERGENP21283
HOGENOMP21283
Homologs : HomoloGeneATP6V1C1
Homology/Alignments : Family Browser (UCSC)ATP6V1C1
Gene fusions - Rearrangements
Fusion : MitelmanAZIN1/ATP6V1C1 [8q22.3/8q22.3]  [t(8;8)(q22;q22)]  
Fusion : MitelmanGBA2/ATP6V1C1 [9p13.3/8q22.3]  [t(8;9)(q22;p13)]  
Fusion : MitelmanRIMS2/ATP6V1C1 [8q22.3/8q22.3]  [t(8;8)(q22;q22)]  
Fusion: TCGAAZIN1 8q22.3 ATP6V1C1 8q22.3 SKCM
Fusion: TCGAGBA2 9p13.3 ATP6V1C1 8q22.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1C1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1C1
dbVarATP6V1C1
ClinVarATP6V1C1
1000_GenomesATP6V1C1 
Exome Variant ServerATP6V1C1
ExAC (Exome Aggregation Consortium)ATP6V1C1 (select the gene name)
Genetic variants : HAPMAP528
Genomic Variants (DGV)ATP6V1C1 [DGVbeta]
DECIPHER (Syndromes)8:104033248-104085285  ENSG00000155097
CONAN: Copy Number AnalysisATP6V1C1 
Mutations
ICGC Data PortalATP6V1C1 
TCGA Data PortalATP6V1C1 
Broad Tumor PortalATP6V1C1
OASIS PortalATP6V1C1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V1C1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V1C1
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 ATP6V1C1
DgiDB (Drug Gene Interaction Database)ATP6V1C1
DoCM (Curated mutations)ATP6V1C1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1C1 (select a term)
intoGenATP6V1C1
Cancer3DATP6V1C1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603097   
Orphanet
MedgenATP6V1C1
Genetic Testing Registry ATP6V1C1
NextProtP21283 [Medical]
TSGene528
GENETestsATP6V1C1
Huge Navigator ATP6V1C1 [HugePedia]
snp3D : Map Gene to Disease528
BioCentury BCIQATP6V1C1
ClinGenATP6V1C1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD528
Chemical/Pharm GKB GenePA25156
Clinical trialATP6V1C1
Miscellaneous
canSAR (ICR)ATP6V1C1 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V1C1
EVEXATP6V1C1
GoPubMedATP6V1C1
iHOPATP6V1C1
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 12:57:02 CET 2017

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