Recombinant Human V-type proton ATPase subunit B, brain isoform (ATP6V1B2)

Uniprot Id

P21281

Target Species

Human

Target Name

ATP6V1B2

Target Full Name

V-type proton ATPase subunit B, brain isoform

Target 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. 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. 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.

Target Involvement

Zimmermann-Laband syndrome 2 (ZLS2); Deafness, congenital, with onychodystrophy, autosomal dominant (DDOD)

Target Subcellular Location

Apical cell membrane. Melanosome. Cytoplasm.

Target Protein Families

ATPase alpha/beta chains family

Target Tissue Specificity

Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level).

Target Synonyms

ATP6B1B2; ATP6B2; ATP6V1 B2; ATP6V1B 2; ATP6V1B2; ATPase H+ transporting lysosomal 56/58kDa V1 subunit B isoform 2; ATPase H+ transporting lysosomal 56/58kDa V1 subunit B2; ATPase H+ transporting, lysosomal (vacuolar proton pump) beta polypeptide 56/58kD isoform 2; ATPase, H+ transporting, lysosomal V1 subunit B2; brain isoform; Endomembrane proton pump 58 kDa subunit; H+ transporting two sector ATPase; HO 57; HO57; V ATPase B2 subunit; V ATPase subunit B 2; V type proton ATPase subunit B, brain isoform; V-ATPase subunit B 2; V-type proton ATPase subunit B; Vacuolar ATP synthase subunit B brain isoform; Vacuolar H+ ATPase 56,000 subunit; Vacuolar H+ ATPase 56000 subunit; Vacuolar H+ATPase B2; Vacuolar proton pump subunit B 2; VAT B2; VATB 2; VATB; VATB2; VATB2_HUMAN; Vma 2; Vma2; VPP 3; VPP3

Target Background

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 sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts.