vacuolar proton translocating ATPase 116 kD subunit a, isoform 2; V-ATPase 116 kD isoform a2 (TJ6, ATP6V0A2)

Function

• component of the proton channel of V-ATPases
• component of the endosomal pH-sensing machinery
• role in maintaining the Golgi functions, including glycosylation maturation, by controlling the Golgi pH (putative)
• directly interacts with PSCD2 through its N-terminal cytosolic tail (intra-endosomal acidification-dependent); disruption of this interaction results in the inhibition of endocytosis
• phosphorylated upon DNA damage, probably by ATM or ATR

Structure

belongs to the V-ATPase 116 kD subunit family

Compartment

• cell membrane
• endosome membrane
• in kidney proximal tubules, also detected in subapical vesicles (putative)

Pathology

• defects in ATP6V0A2 are the cause of
  • cutis laxa type 2
  • wrinkly skin syndrome

More general terms

• vacuolar ATP synthase 116 kD subunit a

Additional terms

• osteopetrosis (Albers-Schonberg disease)

Component of

• vacuolar ATP synthase (v ATPase) or endomembrane proton pump

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=23545
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2354
• OMIM: https://mirror.omim.org/entry/219200
• OMIM: https://mirror.omim.org/entry/278250
• OMIM: https://mirror.omim.org/entry/611716
• UniProt: http://www.uniprot.org/uniprot/Q9Y487.html