ATP6V1B1 Antibody – Rabbit Polyclonal

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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]

ATP6V1B1: Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. Defects in ATP6V1B1 are the cause of distal renal tubular acidosis with deafness (dRTA-D). Inheritance is autosomal recessive. Patients with recessive dRTA are severely affected, presenting with either acute illness or growth failure at a young age, and bilateral sensorineural deafness. Other features include low serum K(+) due to renal potassium wasting, and elevated urinary calcium. If untreated, this acidosis may result in dissolution of bone, leading to osteomalacia and rickets. Renal deposition of calcium salts (nephrocalcinosis) and renal stone formation commonly occur. Belongs to the ATPase alpha/beta chains family.

Protein type: EC 3.6.3.14; Hydrolase; Energy Metabolism - oxidative phosphorylation

Chromosomal Location of Human Ortholog: 2p13.1

Cellular Component: microvillus; basolateral plasma membrane; apical plasma membrane; cytoplasm; endomembrane system; vacuolar proton-transporting V-type ATPase complex; cytosol; lateral plasma membrane

Molecular Function: protein complex binding; hydrogen ion transmembrane transporter activity; hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances; ATP binding

Biological Process: interaction with host; inner ear morphogenesis; ossification; cellular iron ion homeostasis; transferrin transport; excretion; ATP metabolic process; calcium ion homeostasis; proton transport; sensory perception of sound; pH reduction; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; regulation of pH; transmembrane transport

Disease: Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness