Gene Gene information from NCBI Gene database.
Entrez ID 535
Gene name ATPase H+ transporting V0 subunit a1
Gene symbol ATP6V0A1
Synonyms (NCBI Gene)
ATP6N1ATP6N1ADEE104NEDEBAStv1VPP1Vph1a1
Chromosome 17
Chromosome location 17q21.2
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.
476
miRTarBase ID miRNA Experiments Reference
MIRT001651 hsa-let-7b-5p pSILAC 18668040
MIRT001382 hsa-miR-1-3p pSILAC 18668040
MIRT017495 hsa-miR-335-5p Microarray 18185580
MIRT001382 hsa-miR-1-3p Proteomics;Other 18668040
MIRT001651 hsa-let-7b-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000220 Component Vacuolar proton-transporting V-type ATPase, V0 domain IEA
GO:0000220 Component Vacuolar proton-transporting V-type ATPase, V0 domain ISS
GO:0005515 Function Protein binding IPI 7896830, 12649290
GO:0005737 Component Cytoplasm IEA
GO:0005765 Component Lysosomal membrane TAS 22982048
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
192130 865 ENSG00000033627
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q93050
Protein name V-type proton ATPase 116 kDa subunit a 1 (V-ATPase 116 kDa subunit a 1) (Clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit) (Vacuolar adenosine triphosphatase subunit Ac116) (Vacuolar proton pump subunit 1) (Vacuolar proton translocatin
Protein function Subunit of the V0 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 transports protons across cellular membranes. V-ATPase is resp
PDB 6WLW , 6WM2 , 6WM3 , 6WM4 , 7U4T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01496 V_ATPase_I 27 827 V-type ATPase 116kDa subunit family Family
Sequence
MGELFRSEEMTLAQLFLQSEAAYCCVSELGELGKVQFRDLNPDVNVFQRKFVNEVRRCEE
MDRKLRFVEKEIRKANIPIMDTGENPEVPFPRDMIDLEANFEKIENELKEINTNQEALKR
NFLELTELKFILRKTQQFFDEMADPDLLEESSSLLEPSEMGRGTPLRLGFVAGVINRERI
PTFERMLWRVCRGNVFLRQAEIENPLEDPVTGDYVHKSVFIIFFQGDQLKNRVKKICEGF
RASLYPCPETPQERKEMASGVNTRIDDLQMVLNQTEDHRQRVLQAAAKNIRVWFIKVRKM
KAIYHTLNLCNIDVTQKCLIAEVWCPVTDLDSIQFALRRGTEHSGSTVPSILNRMQTNQT
PPTYNKTNKFTYGFQNIVDAYGIGTYREINPAPYTIITFPFLFAVMFGDFGHGILMTLFA
VWMVLRESRILSQKNENEMFSTVFSGRYIILLMGVFSMYTGLIYNDCFSKSLNIFGSSWS
VRPMFTYNWTEETLRGNPVLQLNPALPGVFGGPYPFGIDPIWNIATNKLTFLNSFKMKMS
VILGIIHMLFGVSLSLFNHIYFKKPLNIYFGFIPEIIFMTSLFGYLVILIFYKWTAYDAH
TSENAPSLLIHFINMFLFSYPESGYSMLYSGQKGIQCFLVVVALLCVPWMLLFKPLVLRR
QYLRRKHLGTLNFGGIRVGNGPTEEDAEIIQHDQLSTHSEDADEPSEDEVFDFGDTMVHQ
AIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVIHIGLSVKSLAGGLVLFFFFT
AFATLTVAILLIMEGLSAFLHALRLHWVEFQNKFYSGTGFKFLPFSF
EHIREGKFEE
Sequence length 837
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Lysosome
Phagosome
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Tuberculosis
Human papillomavirus infection
Rheumatoid arthritis
  ROS and RNS production in phagocytes
Neutrophil degranulation
Insulin receptor recycling
Transferrin endocytosis and recycling
Ion channel transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy 104 Pathogenic; Likely pathogenic rs2510238970, rs2510271888, rs2510487229, rs2509993138 RCV002271325
RCV002271326
RCV002271327
RCV003991972
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with epilepsy and brain atrophy Pathogenic rs2510244017, rs766856192, rs1426272694, rs2510487229, rs2145815692 RCV002271321
RCV002271323
RCV002271324
RCV002284231
RCV002271329
★★★★★
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
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 Neoplasms Breast neoplasm Pubtator 35589867 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 18505059 Associate
★☆☆☆☆
Found in Text Mining only
Carotid Stenosis Carotid artery stenosis Pubtator 26254334 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 18505059
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms LHGDN 18505059
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 18505059 Associate
★☆☆☆☆
Found in Text Mining only
Encephalitis Encephalitis BEFREE 11737651
★☆☆☆☆
Found in Text Mining only
Hepatoblastoma Hepatoblastoma BEFREE 18712525
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 21558123 Associate
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 21558123
★☆☆☆☆
Found in Text Mining only