vacuolar proton translocating ATPase 116 kD subunit a, isoform 4; V-ATPase 116 kD isoform a34; vacuolar proton translocating ATPase 116 kD subunit a, kidney isoform (ATP6V0A4, ATP6N1B)

Function

• component of the proton channel of V-ATPases
• acid transport into the urine by the kidney

Compartment

• membrane, apical cell membrane
• high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron

Alternative splicing

named isoforms=2

Expression

• long isoform is highly expressed in osteoclastomas
• short isoform is highly expressed in thymus
• expressed in adult & fetal kidney
• expressed in the inner ear

Pathology

• defects in ATP6V0A4 are the cause of distal renal tubular acidosis with preserved hearing (RTADR)

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

• OMIM: https://mirror.omim.org/entry/602722
• OMIM: https://mirror.omim.org/entry/605239
• UniProt: http://www.uniprot.org/uniprot/Q9HBG4.html