general transcription factor IIi
Zuletzt aktualisiert 11 Apr 2023
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The GTF2I gene provides instructions for making two proteins, TFII-I and BAP-135. TFII-I attaches (binds) to specific areas of DNA and helps regulate the activity of other genes. Based on this role, TFII-I is called a transcription factor. This protein is active in the brain and many other tissues in the body. Studies suggest that the TFII-I protein is involved in coordinating cell growth and division, and it may also play a role in controlling the flow of calcium into cells. Studies show it may be important in a process called myelination, which is the formation of the protective coating around nerve cells called the myelin sheath. This coating insulates nerve cells and promotes the rapid transmission of nerve impulses.
Normal function
The GTF2I gene provides instructions for making two proteins, TFII-I and BAP-135. TFII-I attaches (binds) to specific areas of DNA and helps regulate the activity of other genes. Based on this role, TFII-I is called a transcription factor. This protein is active in the brain and many other tissues in the body. Studies suggest that the TFII-I protein is involved in coordinating cell growth and division, and it may also play a role in controlling the flow of calcium into cells. Studies show it may be important in a process called myelination, which is the formation of the protective coating around nerve cells called the myelin sheath. This coating insulates nerve cells and promotes the rapid transmission of nerve impulses.
Less is known about BAP-135, the other protein produced from the GTF2I gene. The protein is active in B cells, which are a specialized type of white blood cell that protects the body against infection. When a B cell senses a foreign substance (such as a virus), it triggers a series of chemical reactions that instruct the cell to mature, divide, and produce specific proteins called antibodies to fight the infection. The BAP-135 protein is turned on as part of this series of chemical reactions.
Conditions referring to this gene or chromosome
Other names
BAP-135
BAP135
Bruton tyrosine kinase-associated protein 135
BTK-associated protein, 135kD
BTKAP1
DIWS
GTF2I_HUMAN
IB291
SPIN
TFII-I
WBSCR6
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Weiterführende Lektüre und Referenzen
- general transcription factor IIi; MedlinePlus, National Library of Medicine.
- Barak B, Zhang Z, Liu Y, Nir A, Trangle SS, Ennis M, Levandowski KM, Wang D, Quast K, Boulting GL, Li Y, Bayarsaihan D, He Z, Feng G. Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. Nat Neurosci. 2019 May;22(5):700-708. doi: 10.1038/s41593-019-0380-9. Epub 2019 Apr 22.
- Caraveo G, van Rossum DB, Patterson RL, Snyder SH, Desiderio S. Action of TFII-I outside the nucleus as an inhibitor of agonist-induced calcium entry. Science. 2006 Oct 6;314(5796):122-5. doi: 10.1126/science.1127815.
- Danoff SK, Taylor HE, Blackshaw S, Desiderio S. TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype. Neuroscience. 2004;123(4):931-8. doi: 10.1016/j.neuroscience.2003.08.038.
- Egloff AM, Desiderio S. Identification of phosphorylation sites for Bruton's tyrosine kinase within the transcriptional regulator BAP/TFII-I. J Biol Chem. 2001 Jul 27;276(30):27806-15. doi: 10.1074/jbc.M103692200. Epub 2001 May 23.
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- Martin LA, Iceberg E, Allaf G. Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder. Brain Behav. 2017 Dec 19;8(1):e00895. doi: 10.1002/brb3.895. eCollection 2018 Jan.
- Mervis CB, Klein-Tasman BP, Huffman MJ, Velleman SL, Pitts CH, Henderson DR, Woodruff-Borden J, Morris CA, Osborne LR. Children with 7q11.23 duplication syndrome: psychological characteristics. Am J Med Genet A. 2015 Jul;167(7):1436-50. doi: 10.1002/ajmg.a.37071. Epub 2015 Apr 21.
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- Perez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet. 1998 Mar;7(3):325-34. doi: 10.1093/hmg/7.3.325.
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11 Apr 2023 | Neueste Version
1. März 2022 | Ursprünglich veröffentlicht
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