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  Domain Name: V_ATPase_I
V-type ATPase 116kDa subunit family. This family consists of the 116kDa V-type ATPase (vacuolar (H+)-ATPases) subunits, as well as V-type ATP synthase subunit i. The V-type ATPases family are proton pumps that acidify intracellular compartments in eukaryotic cells for example yeast central vacuoles, clathrin-coated and synaptic vesicles. They have important roles in membrane trafficking processes. The 116kDa subunit (subunit a) in the V-type ATPase is part of the V0 functional domain responsible for proton transport. The a subunit is a transmembrane glycoprotein with multiple putative transmembrane helices it has a hydrophilic amino terminal and a hydrophobic carboxy terminal. It has roles in proton transport and assembly of the V-type ATPase complex. This subunit is encoded by two homologous gene in yeast VPH1 and STV1.
No pairwise interactions found for the domain V_ATPase_I

Total Mutations Found: 17
Total Disease Mutations Found: 10
This domain occurred 4 times on human genes (7 proteins).



  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA
  OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
  RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
  RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET
  SENSORINEURAL HEARING LOSS


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for V_ATPase_I






























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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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