MGP Database

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MGP000266

UniProt Annotations

Entry Information
Gene NameATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
Protein EntryVATB1_HUMAN
UniProt IDP15313
SpeciesHuman
Comments
Comment typeDescription
DiseaseRenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [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:9916796}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7. {ECO:0000269|PubMed:12444018}.
FunctionNon-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
Sequence CautionSequence=AAA36498.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the ATPase alpha/beta chains family. {ECO:0000305}.
Subcellular LocationEndomembrane system; Peripheral membrane protein. Note=Endomembrane.
SubunitV-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.
Tissue SpecificityExpressed in the cochlea and endolymphatic sac. {ECO:0000269|PubMed:9916796}.
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