ATP6V1B2
entrez
526
canonical
uniprot
P21281
canonical
ensembl
ENSG00000147416
resolver
ensp
ENSP00000276390
resolver
ensp
ENSP00000520705
resolver
enst
ENST00000276390
resolver
enst
ENST00000718265
resolver
genesymbol
ATP6V1B2
resolver
genesymbol_syn
ATP6B2
resolver
genesymbol_syn
VPP3
resolver
hgnc
HGNC:854
resolver
uniprot
A0A140VK65
resolver
uniprot
B2R5Z3
resolver
uniprot
D3DSQ5
resolver
uniprot
Q14544
resolver
uniprot
Q15859
resolver
uniprot
Q96IR0
resolver
uniprot_entry
A0A140VK65_HUMAN
resolver
uniprot_entry
VATB2_HUMAN
resolver
uniprot_sec
B2R5Z3
resolver
uniprot_sec
D3DSQ5
resolver
uniprot_sec
Q14544
resolver
uniprot_sec
Q15859
resolver
uniprot_sec
Q96IR0
resolver
amino_acid_sequence
MALRAMRGIVNGAAPELPVPTGGPAVGAREQALAVSRNYLSQPRLTYKTVSGVNGPLVILDHVKFPRYAEIVHLTLPDGTKRSGQVLEVSGSKAVVQVFEGTSGIDAKKTSCEFTGDILRTPVSEDMLGRVFNGSGKPIDRGPVVLAEDFLDIMGQPINPQCRIYPEEMIQTGISAIDGMNSIARGQKIPIFSAAGLPHNEIAAQICRQAGLVKKSKDVVDYSEENFAIVFAAMGVNMETARFFKSDFEENGSMDNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEALREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRNGSITQIPILTMPNDDITHPIPDLTGYITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHADVSNQLYACYAIGKDVQAMKAVVGEEALTSDDLLYLEFLQKFERNFIAQGPYENRTVFETLDIGWQLLRIFPKEMLKRIPQSTLSEFYPRDSAKH
uniprot
proteins
disease_involvement
DISEASE: Zimmermann-Laband syndrome 2 (ZLS2) [MIM:616455]: A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS2 inheritance is autosomal dominant. {ECO:0000269|PubMed:25915598}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, congenital, with onychodystrophy, autosomal dominant (DDOD) [MIM:124480]: An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients. {ECO:0000269|PubMed:24913193}. 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:33065002). 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 promotes acidification of the extracellular environment (PubMed:32001091). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050). In renal intercalated cells, can partially compensate the lack of ATP6V1B1 and mediate secretion of protons (H+) into the urine under base-line conditions but not in conditions of acid load (By similarity). {ECO:0000250|UniProtKB:P62814, ECO:0000269|PubMed:22053050, ECO:0000269|PubMed:33065002, ECO:0000303|PubMed:32001091}.
uniprot
proteins
mass_dalton
56501
uniprot
proteins
protein_family
ATPase alpha/beta chains family
uniprot
proteins
pubmed
12643545
uniprot
proteins
pubmed
1373501
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2145275
uniprot
proteins
pubmed
22053050
uniprot
proteins
pubmed
24913193
uniprot
proteins
pubmed
25915598
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29993276
uniprot
proteins
pubmed
32001091
uniprot
proteins
pubmed
33065002
uniprot
proteins
pubmed
7706273
uniprot
proteins
pubmed
7945239
uniprot
proteins
sequence_length
511
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:29993276}. Melanosome {ECO:0000269|PubMed:12643545}. Cytoplasm {ECO:0000250|UniProtKB:P62814}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:P62815}; Peripheral membrane protein {ECO:0000305}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250|UniProtKB:P62815}; Peripheral membrane protein {ECO:0000305}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:12643545}.
uniprot
proteins