vacuolar proton translocating ATPase 116 kD subunit a, isoform 3; V-ATPase 116 kD isoform a3; osteoclastic proton pump 116 kD subunit; OC-116 kD; OC116; T-cell immune regulator 1; T cell immune response cDNA7 protein (TIRC7, TCIRG1, ATP6N1C, ATP6V0A3)

Function

• component of the proton channel of V-ATPases
• involved in T-cell activation

Compartment

membrane

Alternative splicing

named isoforms=2

Expression

• long isoform is highly expressed in osteoclastomas
• the short isoform is highly expressed in thymus

Pathology

• defects in TCIRG1 are a cause of autosomal recessive osteopetrosis

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/259700
• OMIM: https://mirror.omim.org/entry/604592
• UniProt: http://www.uniprot.org/uniprot/Q13488.html