T Cell Immune Regulator 1

Alternative Names

  • TCIRG1
  • ATPase, H+ Transporting, Lysosomal, V0 Subunit A, Isoform 3
  • Vacuolar Proton Pump, Alpha Subunit 3
  • TIRC7
  • OC116
  • ATPase, H+ Transporting, Lysosomal, V0 Subunit A3
  • ATP6V0A3
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OMIM Number

604592

NCBI Gene ID

10312

Uniprot ID

Q13488

Length

11,905 bases

No. of Exons

24

No. of isoforms

2

Protein Name

TCIRG1

Molecular Mass

92,968 Da

Amino Acid Count

830

Genomic Location

11:68,038,994-68,053,845

Gene Map Locus
11q13.4-q13.5

Description

T-cell immune regulator (TCIRG1) codes for the alpha 3 subunit of the osteoclast vacuolar proton pump (VPP). This protein is an integral component of the vacuolar proton-translocating adenosine triphosphatase (V-ATPase) complex which mediates the acidification of the extracellular compartment between the ruffled border membrane of the osteoclast and the bone surface, where the low pH is necessary both for dissolving inorganic bone material and for the optimal function of proteases which degrade the organic bone matrix.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006019.3:c.1421C>ABahrain; Syria; United...NC_000011.10:g.68047762C>ALikely PathogenicOsteopetrosis, Autosomal Recessive 1NG_007878.1:g.13747C>A; NM_006019.3:c.1421C>A; NP_006010.2:p.Ser474Ter
NM_006019.3:c.702delGLebanon; Saudi Arabia;...NC_000011.10:g.68043642delLikely PathogenicOsteopetrosis, Autosomal Recessive 1NG_007878.1:g.9627delG; NM_006019.3:c.702delG; NP_006010.2:p.Ile235SerfsTer44
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