ATP6V1B1
entrez
525
canonical
uniprot
P15313
canonical
ensembl
ENSG00000116039
resolver
ensp
ENSP00000234396
resolver
enst
ENST00000234396
resolver
genesymbol
ATP6V1B1
resolver
genesymbol_syn
ATP6B1
resolver
genesymbol_syn
VATB
resolver
genesymbol_syn
VPP3
resolver
hgnc
HGNC:853
resolver
uniprot
Q53FY0
resolver
uniprot
Q6P4H6
resolver
uniprot_entry
VATB1_HUMAN
resolver
uniprot_sec
Q53FY0
resolver
uniprot_sec
Q6P4H6
resolver
amino_acid_sequence
MAMEIDSRPGGLPGSSCNLGAAREHMQAVTRNYITHPRVTYRTVCSVNGPLVVLDRVKFAQYAEIVHFTLPDGTQRSGQVLEVAGTKAIVQVFEGTSGIDARKTTCEFTGDILRTPVSEDMLGRVFNGSGKPIDKGPVVMAEDFLDINGQPINPHSRIYPEEMIQTGISPIDVMNSIARGQKIPIFSAAGLPHNEIAAQICRQAGLVKKSKAVLDYHDDNFAIVFAAMGVNMETARFFKSDFEQNGTMGNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEALREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRGGSITQIPILTMPNDDITHPIPDLTGFITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHGDVSNQLYACYAIGKDVQAMKAVVGEEALTSEDLLYLEFLQKFEKNFINQGPYENRSVFESLDLGWKLLRIFPKEMLKRIPQAVIDEFYSREGALQDLAPDTAL
uniprot
proteins
disease_involvement
DISEASE: Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (DRTA2) [MIM:267300]: An autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is 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:12414817, ECO:0000269|PubMed:12579397, ECO:0000269|PubMed:16769747, ECO:0000269|PubMed:19478356, ECO:0000269|PubMed:9916796}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-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:16769747). 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 (PubMed:32001091). Essential for the proper assembly and activity of V-ATPase (PubMed:16769747). In renal intercalated cells, mediates secretion of protons (H+) into the urine thereby ensuring correct urinary acidification (PubMed:16769747). Required for optimal olfactory function by mediating the acidification of the nasal olfactory epithelium (By similarity). {ECO:0000250|UniProtKB:Q91YH6, ECO:0000269|PubMed:16769747, ECO:0000303|PubMed:32001091}.
uniprot
proteins
mass_dalton
56833
uniprot
proteins
mutagenesis
MUTAGEN 513; /note="L->G: Loss of interactions with NHERF1 and SCL4A7."; /evidence="ECO:0000269|PubMed:12444018
uniprot
proteins
protein_family
ATPase alpha/beta chains family
uniprot
proteins
pubmed
12414817
uniprot
proteins
pubmed
12444018
uniprot
proteins
pubmed
12579397
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16769747
uniprot
proteins
pubmed
19478356
uniprot
proteins
pubmed
2527371
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
29993276
uniprot
proteins
pubmed
32001091
uniprot
proteins
pubmed
9916796
uniprot
proteins
sequence_length
513
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:16769747, ECO:0000269|PubMed:29993276}. Basolateral cell membrane {ECO:0000250|UniProtKB:Q91YH6}.
uniprot
proteins