ATP6V0A4
entrez
50617
canonical
uniprot
Q9HBG4
canonical
ensembl
ENSG00000105929
resolver
ensp
ENSP00000253856
resolver
ensp
ENSP00000308122
resolver
ensp
ENSP00000376774
resolver
ensp
ENSP00000496421
resolver
ensp
ENSP00000539040
resolver
ensp
ENSP00000539041
resolver
ensp
ENSP00000539042
resolver
ensp
ENSP00000539043
resolver
ensp
ENSP00000539046
resolver
ensp
ENSP00000611175
resolver
enst
ENST00000310018
resolver
enst
ENST00000353492
resolver
enst
ENST00000393054
resolver
enst
ENST00000645515
resolver
enst
ENST00000868981
resolver
enst
ENST00000868982
resolver
enst
ENST00000868983
resolver
enst
ENST00000868984
resolver
enst
ENST00000868987
resolver
enst
ENST00000941116
resolver
genesymbol
ATP6V0A4
resolver
genesymbol_syn
ATP6N1B
resolver
genesymbol_syn
ATP6N2
resolver
hgnc
HGNC:866
resolver
uniprot
A4D1R4
resolver
uniprot
A8KA80
resolver
uniprot
Q32M47
resolver
uniprot_entry
VPP4_HUMAN
resolver
uniprot_sec
A4D1R4
resolver
uniprot_sec
A8KA80
resolver
uniprot_sec
Q32M47
resolver
amino_acid_sequence
MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLEDEMQNEIVVQLLEKSPLTPLPREMITLETVLEKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELKAVPAYMTGKLGFIAGVINRERMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQKNIFIIFYQGEQLRQKIKKICDGFRATVYPCPEPAVERREMLESVNVRLEDLITVITQTESHRQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQCVIAEIWFPVADATRIKRALEQGMELSGSSMAPIMTTVQSKTAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIITFPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKTDNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNGTWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWNLASNKLTFLNSYKMKMSVILGIVQMVFGVILSLFNHIYFRRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFINMFLFNYSDSSNAPLYKHQQEVQSFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTSADTHGALDDHGEEFNFGDVFVHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVMNSGLQTRGWGGIVGVFIIFAVFAVLTVAILLIMEGLSAFLHALRLHWVEFQNKFYVGDGYKFSPFSFKHILDGTAEE
uniprot
proteins
disease_involvement
DISEASE: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss (DRTA3) [MIM:602722]: An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO:0000269|PubMed:10973252, ECO:0000269|PubMed:12414817}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Involved in normal vectorial acid transport into the urine by the kidney (PubMed:10973252, PubMed:12414817). {ECO:0000250|UniProtKB:Q29466, ECO:0000250|UniProtKB:Q93050, ECO:0000269|PubMed:10973252, ECO:0000269|PubMed:12414817}.
uniprot
proteins
mass_dalton
96386
uniprot
proteins
protein_family
V-ATPase 116 kDa subunit family
uniprot
proteins
pubmed
10973252
uniprot
proteins
pubmed
12414817
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
sequence_length
840
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:10973252}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000250|UniProtKB:Q920R6}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes to the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron (PubMed:10973252). Localizes to the basolateral surface of beta-intercalated cells in the cortical collecting ducts of the distal nephron (By similarity). {ECO:0000250|UniProtKB:Q920R6, ECO:0000269|PubMed:10973252}.
uniprot
proteins
transmembrane_region
TRANSMEM 391..409; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 412..428; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 444..473; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 539..558; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 577..597; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 643..662; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 728..752; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 774..812; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins