| Alias (NCBI) | ATP6C |
| ATP6D |
| VATC |
| Vma5 |
| HGNC (Hugo) |
ATP6V1C1 |
| HGNC Alias symb | VATC |
| Vma5 |
| HGNC Previous name | ATP6D |
| ATP6C |
| HGNC Previous name | 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 |
| LocusID (NCBI) |
528 |
| Atlas_Id |
45846 |
| Location |
8q22.3 [Link to chromosome band 8q22] |
| Location_base_pair |
Starts at 103021083 and ends at 103073051 bp from pter ( according to hg38-Dec_2013) |
| Nomenclature |
|---|
| HGNC (Hugo) | ATP6V1C1 856 |
| Cards |
|---|
| Entrez_Gene (NCBI) | ATP6V1C1 528 ATPase H+ transporting V1 subunit C1 |
| Aliases | ATP6C; ATP6D; VATC; Vma5 |
| GeneCards (Weizmann) | ATP6V1C1 |
| Ensembl hg19 (Hinxton) | ENSG00000155097 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000155097 [Gene_View] ENSG00000155097 [Sequence] chr8:103021083-103073051 [Contig_View] ATP6V1C1 [Vega] |
| ICGC DataPortal | ENSG00000155097 |
| TCGA cBioPortal | ATP6V1C1 |
| AceView (NCBI) | ATP6V1C1 |
| Genatlas (Paris) | ATP6V1C1 |
| WikiGenes | 528 |
| SOURCE (Princeton) | ATP6V1C1 |
| Genetics Home Reference (NIH) | ATP6V1C1 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | ATP6V1C1 - chr8:103021083-103073051 + 8q22.3 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | ATP6V1C1 - 8q22.3 [Description] (hg19-Feb_2009) |
| GoldenPath | ATP6V1C1 - 8q22.3 [CytoView hg19] ATP6V1C1 - 8q22.3 [CytoView hg38] |
| ImmunoBase | ENSG00000155097 |
| genome Data Viewer NCBI | ATP6V1C1 [Mapview hg19] |
| OMIM | 603097 |
| 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 Gallery | ENSG00000155097 |
| Gene Expression | ATP6V1C1 [ NCBI-GEO ] ATP6V1C1 [ EBI - ARRAY_EXPRESS ]
ATP6V1C1 [ SEEK ] ATP6V1C1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | ATP6V1C1 [ Firebrowse - Broad ] |
| Genevisible | Expression of ATP6V1C1 in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 528 |
| GTEX Portal (Tissue expression) | ATP6V1C1 |
| Human Protein Atlas | ENSG00000155097-ATP6V1C1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P21283 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P21283 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P21283 |
| Splice isoforms : SwissVar | P21283 |
| PhosPhoSitePlus | P21283 |
| Domains : Interpro (EBI) | ATPase_V1-cplx_csu Vac_ATP_synth_c_sf |
| Domain families : Pfam (Sanger) | V-ATPase_C (PF03223) |
| Domain families : Pfam (NCBI) | pfam03223 |
| Conserved Domain (NCBI) | ATP6V1C1 |
| DMDM Disease mutations | 528 |
| Blocks (Seattle) | ATP6V1C1 |
| Superfamily | P21283 |
| Human Protein Atlas [tissue] | ENSG00000155097-ATP6V1C1 [tissue] |
| Peptide Atlas | P21283 |
| HPRD | 04371 |
| IPI | IPI00007814 IPI00976996 IPI00983141 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P21283 |
| IntAct (EBI) | P21283 |
| FunCoup | ENSG00000155097 |
| BioGRID | ATP6V1C1 |
| STRING (EMBL) | ATP6V1C1 |
| ZODIAC | ATP6V1C1 |
| Ontologies - Pathways |
|---|
| QuickGO | P21283 |
| Ontology : AmiGO | vacuolar proton-transporting V-type ATPase, V1 domain transporter activity protein binding lysosomal membrane cytosol plasma membrane insulin receptor signaling pathway proton-exporting ATPase activity, phosphorylative mechanism regulation of macroautophagy proton-transporting two-sector ATPase complex cytoplasmic vesicle transferrin transport ion transmembrane transport apical part of cell proton-transporting ATPase activity, rotational mechanism extracellular exosome phagosome acidification proton transmembrane transport |
| Ontology : EGO-EBI | vacuolar proton-transporting V-type ATPase, V1 domain transporter activity protein binding lysosomal membrane cytosol plasma membrane insulin receptor signaling pathway proton-exporting ATPase activity, phosphorylative mechanism regulation of macroautophagy proton-transporting two-sector ATPase complex cytoplasmic vesicle transferrin transport ion transmembrane transport apical part of cell proton-transporting ATPase activity, rotational mechanism extracellular exosome phagosome acidification proton transmembrane transport |
| Pathways : KEGG | Oxidative phosphorylation Phagosome Synaptic vesicle cycle Collecting duct acid secretion Vibrio cholerae infection Epithelial cell signaling in Helicobacter pylori infection Rheumatoid arthritis |
| NDEx Network | ATP6V1C1 |
| Atlas of Cancer Signalling Network | ATP6V1C1 |
| Wikipedia pathways | ATP6V1C1 |
| Orthology - Evolution |
|---|
| OrthoDB | 528 |
| GeneTree (enSembl) | ENSG00000155097 |
| Phylogenetic Trees/Animal Genes : TreeFam | ATP6V1C1 |
| HOGENOM | P21283 |
| Homologs : HomoloGene | ATP6V1C1 |
| Homology/Alignments : Family Browser (UCSC) | ATP6V1C1 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | AZIN1/ATP6V1C1 [8q22.3/8q22.3] |
| Fusion : Mitelman | GBA2/ATP6V1C1 [9p13.3/8q22.3] |
| Fusion : Mitelman | RIMS2/ATP6V1C1 [8q22.3/8q22.3] |
| Fusion Portal | AZIN1 8q22.3 ATP6V1C1 8q22.3 SKCM |
| Fusion Portal | GBA2 9p13.3 ATP6V1C1 8q22.3 BRCA |
| Fusion : Quiver | ATP6V1C1 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | ATP6V1C1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | ATP6V1C1 |
| dbVar | ATP6V1C1 |
| ClinVar | ATP6V1C1 |
| Monarch | ATP6V1C1 |
| 1000_Genomes | ATP6V1C1 |
| Exome Variant Server | ATP6V1C1 |
| GNOMAD Browser | ENSG00000155097 |
| Varsome Browser | ATP6V1C1 |
| Genetic variants : HAPMAP | 528 |
| Genomic Variants (DGV) | ATP6V1C1 [DGVbeta] |
| DECIPHER | ATP6V1C1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | ATP6V1C1 |
| Mutations |
|---|
| ICGC Data Portal | ATP6V1C1 |
| TCGA Data Portal | ATP6V1C1 |
| Broad Tumor Portal | ATP6V1C1 |
| OASIS Portal | ATP6V1C1 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | ATP6V1C1 [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | ATP6V1C1 |
| Mutations and Diseases : HGMD | ATP6V1C1 |
| 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 |
| BioMuta | search 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) |
| intoGen | ATP6V1C1 |
| Cancer3D | ATP6V1C1(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 603097 |
| Orphanet | |
| DisGeNET | ATP6V1C1 |
| Medgen | ATP6V1C1 |
| Genetic Testing Registry | ATP6V1C1
|
| NextProt | P21283 [Medical] |
| TSGene | 528 |
| GENETests | ATP6V1C1 |
| Target Validation | ATP6V1C1 |
| Huge Navigator |
ATP6V1C1 [HugePedia] |
| snp3D : Map Gene to Disease | 528 |
| BioCentury BCIQ | ATP6V1C1 |
| ClinGen | ATP6V1C1 |
| Clinical trials, drugs, therapy |
|---|
| Protein Interactions : CTD | 528 |
| Pharm GKB Gene | PA25156 |
| Clinical trial | ATP6V1C1 |
| Miscellaneous |
|---|
| canSAR (ICR) | ATP6V1C1 (select the gene name) |
| Harmonizome | ATP6V1C1 |
| DataMed Index | ATP6V1C1 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 44 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | ATP6V1C1 |
| EVEX | ATP6V1C1 |
| GoPubMed | ATP6V1C1 |
