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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 103021020 and ends at 103073057 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)
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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]

Solid Tumors TT_t0808q22q22ID108142 TT_t0808q22q22ID108159 TT_t0809q22p13ID108258

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]
Ensembl hg38 (Hinxton)ENSG00000155097 [Gene_View]  ENSG00000155097 [Sequence]  chr8:103021020-103073057 [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 hg38 (UCSC)ATP6V1C1  -     chr8:103021020-103073057 +  8q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V1C1  -     8q22.3   [Description]    (hg19-Feb_2009)
GoldenPathATP6V1C1 - 8q22.3 [CytoView hg19]  ATP6V1C1 - 8q22.3 [CytoView hg38]
ImmunoBaseENSG00000155097
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)
Consensus coding sequences : CCDS (NCBI)ATP6V1C1
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]
BioGPS (Tissue expression)528
GTEX Portal (Tissue expression)ATP6V1C1
Human Protein AtlasENSG00000155097-ATP6V1C1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ATP6V1C1
DMDM Disease mutations528
Blocks (Seattle)ATP6V1C1
Human Protein Atlas [tissue]ENSG00000155097-ATP6V1C1 [tissue]
HPRD04371
IPIIPI00007814   IPI00976996   IPI00983141   
Protein Interaction databases
FunCoupENSG00000155097
BioGRIDATP6V1C1
STRING (EMBL)ATP6V1C1
ZODIACATP6V1C1
Ontologies - Pathways
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)
DataMed IndexATP6V1C1
Probes
Litterature
PubMed44 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 : Wed Feb 19 16:34:05 CET 2020
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