Gene Gene information from NCBI Gene database.
Entrez ID 528
Gene name ATPase H+ transporting V1 subunit C1
Gene symbol ATP6V1C1
Synonyms (NCBI Gene)
ATP6CATP6DVATCVma5
Chromosome 8
Chromosome location 8q22.3
Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sor
miRNA miRNA information provided by mirtarbase database.
1078
miRTarBase ID miRNA Experiments Reference
MIRT001565 hsa-miR-155-5p pSILAC 18668040
MIRT016047 hsa-miR-374b-5p Sequencing 20371350
MIRT020236 hsa-miR-130b-3p Sequencing 20371350
MIRT001565 hsa-miR-155-5p Proteomics;Other 18668040
MIRT021977 hsa-miR-128-3p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000221 Component Vacuolar proton-transporting V-type ATPase, V1 domain IBA
GO:0000221 Component Vacuolar proton-transporting V-type ATPase, V1 domain ISS
GO:0005515 Function Protein binding IPI 16415858
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603097 856 ENSG00000155097
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P21283
Protein name V-type proton ATPase subunit C 1 (V-ATPase subunit C 1) (Vacuolar proton pump subunit C 1)
Protein function Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002). V-ATPase is responsibl
PDB 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03223 V-ATPase_C 4 370 V-ATPase subunit C Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12384298}.
Sequence
Sequence length 382
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Phagosome
mTOR signaling pathway
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis
  ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Amino acids regulate mTORC1
Ion channel transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DIGITORENOCEREBRAL SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 24454753, 28504970
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40384877 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33380233, 36105252 Associate
★☆☆☆☆
Found in Text Mining only
Deafness Congenital and Onychodystrophy Autosomal Dominant Deafness with congenital onychodystrophy Pubtator 39210597 Associate
★☆☆☆☆
Found in Text Mining only
Lip and Oral Cavity Carcinoma Lip and Oral Cavity Carcinoma BEFREE 26984774
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 24454753, 28504970
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of mouth Malignant neoplasm of mouth BEFREE 26984774
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28504970
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28504970
★☆☆☆☆
Found in Text Mining only
Skin Erosion Skin Erosion BEFREE 31104818
★☆☆☆☆
Found in Text Mining only