Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
523
Gene name Gene Name - the full gene name approved by the HGNC.
ATPase H+ transporting V1 subunit A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP6V1A
Synonyms (NCBI Gene) Gene synonyms aliases
ARCL2D, ATP6A1, ATP6V1A1, DEE93, HO68, IECEE3, VA68, VPP2, Vma1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs755278709 G>A,T Likely-pathogenic Splice donor variant
rs869312870 A>G Likely-pathogenic Missense variant, coding sequence variant
rs1060505036 C>T Pathogenic Missense variant, coding sequence variant
rs1060505037 G>A Pathogenic Missense variant, coding sequence variant
rs1553709380 C>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023734 hsa-miR-1-3p Proteomics 18668040
MIRT029234 hsa-miR-26b-5p Microarray 19088304
MIRT044054 hsa-miR-361-5p CLASH 23622248
MIRT714795 hsa-miR-4704-5p HITS-CLIP 19536157
MIRT714794 hsa-miR-6873-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane NAS 32001091
GO:0000166 Function Nucleotide binding IEA
GO:0000221 Component Vacuolar proton-transporting V-type ATPase, V1 domain IDA 33065002
GO:0005515 Function Protein binding IPI 23035048, 33208464
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607027 851 ENSG00000114573
Protein
UniProt ID P38606
Protein name V-type proton ATPase catalytic subunit A (V-ATPase subunit A) (EC 7.1.2.2) (V-ATPase 69 kDa subunit) (Vacuolar ATPase isoform VA68) (Vacuolar proton pump subunit alpha)
Protein function Catalytic 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:8463241). V-ATPase is r
PDB 6WLZ , 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02874 ATP-synt_ab_N 21 83 ATP synthase alpha/beta family, beta-barrel domain Domain
PF16886 ATP-synt_ab_Xtn 99 221 ATPsynthase alpha/beta subunit N-term extension Family
PF00006 ATP-synt_ab 230 455 ATP synthase alpha/beta family, nucleotide-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: High expression in the skin. {ECO:0000269|PubMed:28065471}.
Sequence
Sequence length 617
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cutis Laxa Autosomal recessive cutis laxa type 2D rs1060505037 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Epileptic encephalopathy developmental and epileptic encephalopathy 93, undetermined early-onset epileptic encephalopathy N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33476559
Alzheimer Disease Inhibit 33981384
Atrophy Associate 35675510
Brain Diseases Associate 35675510, 37574426
Breast Neoplasms Associate 36322753
Carcinoma Renal Cell Associate 35945960
Cardiovascular Abnormalities Associate 33320377
Congenital Disorders of Glycosylation Associate 33320377
Cutis Laxa Associate 33320377, 37574426
Cutis Laxa Autosomal Recessive Type I Associate 33320377