T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
Última actualización 18 Aug 2020
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El TCIRG1 gene provides instructions for making one part, the a3 subunit, of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) across membranes. This movement of protons helps regulate the relative acidity (pH) of cells and their surrounding environment. Tight control of pH is necessary for most biological reactions to proceed properly.
Normal function
El TCIRG1 gene provides instructions for making one part, the a3 subunit, of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) across membranes. This movement of protons helps regulate the relative acidity (pH) of cells and their surrounding environment. Tight control of pH is necessary for most biological reactions to proceed properly.
The V-ATPases containing the a3 subunit play an essential role in specialized cells called osteoclasts. These cells break down bone tissue as part of the normal process of bone remodeling, in which old bone is removed and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy.
On the surface of osteoclasts, V-ATPases are embedded in a specialized, highly folded membrane called the ruffled border. The ruffled border faces the surface of bone, where it helps form a tightly sealed compartment between the osteoclast and the bone surface. V-ATPases pump protons into the compartment, making it very acidic. This acidic environment is necessary to break down bone.
Conditions referring to this gene or chromosome
Otros nombres
Atp6i
ATP6N1C
ATP6V0A3
ATPase, H+ transporting, 116kD
OC-116
OC-116 kDa
OC-116kDa
OC116
OPTB1
osteoclastic proton pump 116 kDa subunit
specific 116-kDa vacuolar proton pump subunit
Stv1
T cell immune response cDNA7 protein
T-cell immune regulator 1
T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3
T-cell immune response cDNA 7
T-cell immune response cDNA7 protein
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TIRC7
V-ATPase 116 kDa
V-ATPase 116-kDa
V-type proton ATPase 116 kDa subunit a
V-type proton ATPase 116 kDa subunit a isoform 3
vacuolar proton translocating ATPase 116 kDa subunit A
Vph1
VPP3_HUMAN
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Lecturas adicionales y referencias
- T cell immune regulator 1, ATPase H+ transporting V0 subunit a3; MedlinePlus, National Library of Medicine.
- Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet. 2000 Jul;25(3):343-6. doi: 10.1038/77131.
- Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C. Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet. 2000 Aug 12;9(13):2059-63. doi: 10.1093/hmg/9.13.2059.
- Nishi T, Forgac M. The vacuolar (H+)-ATPases--nature's most versatile proton pumps. Nat Rev Mol Cell Biol. 2002 Feb;3(2):94-103. doi: 10.1038/nrm729.
- Scimeca JC, Quincey D, Parrinello H, Romatet D, Grosgeorge J, Gaudray P, Philip N, Fischer A, Carle GF. Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. Hum Mutat. 2003 Feb;21(2):151-7. doi: 10.1002/humu.10165.
- Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet. 2001 Aug 15;10(17):1767-73. doi: 10.1093/hmg/10.17.1767.
- Susani L, Pangrazio A, Sobacchi C, Taranta A, Mortier G, Savarirayan R, Villa A, Orchard P, Vezzoni P, Albertini A, Frattini A, Pagani F. TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat. 2004 Sep;24(3):225-35. doi: 10.1002/humu.20076.
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