ID:VATB1_HUMAN DESCRIPTION: RecName: Full=V-type proton ATPase subunit B, kidney isoform; Short=V-ATPase subunit B 1; AltName: Full=Endomembrane proton pump 58 kDa subunit; AltName: Full=Vacuolar proton pump subunit B 1; FUNCTION: 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. SUBUNIT: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein). Forms a complex with SLC9A3R1 and SCL4A7. SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein. Note=Endomembrane. TISSUE SPECIFICITY: Expressed in the cochlea and endolymphatic sac. DOMAIN: The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7. DISEASE: Defects in ATP6V1B1 are the cause of distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]. 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. SIMILARITY: Belongs to the ATPase alpha/beta chains family. SEQUENCE CAUTION: Sequence=AAA36498.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP6V1B1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00006 - ATP synthase alpha/beta family, nucleotide-binding domain PF02874 - ATP synthase alpha/beta family, beta-barrel domain
SCOP Domains: 47917 - C-terminal domain of alpha and beta subunits of F1 ATP synthase 50615 - N-terminal domain of alpha and beta subunits of F1 ATP synthase 52540 - P-loop containing nucleoside triphosphate hydrolases
ModBase Predicted Comparative 3D Structure on P15313
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
