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- Table of Contents
Facts about V-type proton ATPase 116 kDa subunit a isoform 4.
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Human | |
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Gene Name: | ATP6V0A4 |
Uniprot: | Q9HBG4 |
Entrez: | 50617 |
Belongs to: |
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V-ATPase 116 kDa subunit family |
A4; ATP6N2; ATP6V0; ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B; ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD); ATPase, H+ transporting, lysosomal V0 subunit a4; MGC130016; MGC130017; noncatalytic accessory protein 1B; RDRTA2; RTA1C; RTADR; STV1; vacuolar proton pump 116 kDa accessory subunit; vacuolar proton pump, subunit 2; vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform; V-ATPase 116 kDa; VPH1; VPP2; V-type proton ATPase 116 kDa subunit a isoform 4; V-type proton ATPas
Mass (kDA):
96.386 kDA
Human | |
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Location: | 7q34 |
Sequence: | 7; NC_000007.14 (138706294..138799839, complement) |
Expressed in adult and fetal kidney. Found in the inner ear.
Apical cell membrane; Multi-pass membrane protein. Present at high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron.
PMID: 10973252 by Smith A.N., et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116- kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
PMID: 12414817 by Stover E.H., et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.