Gene Gene information from NCBI Gene database.
Entrez ID 9550
Gene name ATPase H+ transporting V1 subunit G1
Gene symbol ATP6V1G1
Synonyms (NCBI Gene)
ATP6GATP6G1ATP6GLATP6JVma10
Chromosome 9
Chromosome location 9q32
Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort
miRNA miRNA information provided by mirtarbase database.
409
miRTarBase ID miRNA Experiments Reference
MIRT024764 hsa-miR-215-5p Microarray 19074876
MIRT026650 hsa-miR-192-5p Microarray 19074876
MIRT027767 hsa-miR-98-5p Microarray 19088304
MIRT705319 hsa-miR-10a-3p HITS-CLIP 23313552
MIRT705318 hsa-miR-3617-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
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 IDA 33065002
GO:0005515 Function Protein binding IPI 16169070, 21516116, 25416956, 30021884, 31515488, 32296183, 35271311
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005765 Component Lysosomal membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607296 864 ENSG00000136888
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75348
Protein name V-type proton ATPase subunit G 1 (V-ATPase subunit G 1) (V-ATPase 13 kDa subunit 1) (Vacuolar proton pump subunit G 1) (Vacuolar proton pump subunit M16)
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:32001091, PubMed:33065002). V-ATP
PDB 6WLZ , 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03179 V-ATPase_G 3 107 Vacuolar (H+)-ATPase G subunit Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level) (PubMed:29993276). Ubiquitous (PubMed:12384298). {ECO:0000269|PubMed:12384298, ECO:0000269|PubMed:29993276}.
Sequence
Sequence length 118
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.).
1
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
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
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
Asthma Asthma Pubtator 30335973 Associate
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 30335973 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 26020805 Stimulate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 32753475 Associate
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis BEFREE 26312577
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis Pubtator 30335973 Associate
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis BEFREE 11170743
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 33194991 Associate
★☆☆☆☆
Found in Text Mining only