general transcription factor IIi
עודכן לאחרונה 11 אפריל 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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קריאה נוספת והפניות
- 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.
- Hirota H, Matsuoka R, Chen XN, Salandanan LS, Lincoln A, Rose FE, Sunahara M, Osawa M, Bellugi U, Korenberg JR. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med. 2003 Jul-Aug;5(4):311-21. doi: 10.1097/01.GIM.0000076975.10224.67.
- Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Williams syndrome. Nat Rev Dis Primers. 2021 Jun 17;7(1):42. doi: 10.1038/s41572-021-00276-z.
- Makeyev AV, Bayarsaihan D. New TFII-I family target genes involved in embryonic development. Biochem Biophys Res Commun. 2009 Sep 4;386(4):554-8. doi: 10.1016/j.bbrc.2009.06.045. Epub 2009 Jun 13.
- 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.
- Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nat Rev Neurosci. 2006 May;7(5):380-93. doi: 10.1038/nrn1906.
- Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet A. 2003 Nov 15;123A(1):45-59. doi: 10.1002/ajmg.a.20496.
- 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.
- Roy AL. Signal-induced functions of the transcription factor TFII-I. Biochim Biophys Acta. 2007 Nov-Dec;1769(11-12):613-21. doi: 10.1016/j.bbaexp.2007.10.002. Epub 2007 Oct 11.
- Sakurai T, Dorr NP, Takahashi N, McInnes LA, Elder GA, Buxbaum JD. Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Autism Res. 2011 Feb;4(1):28-39. doi: 10.1002/aur.169. Epub 2010 Dec 3.
- Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R229-37. doi: 10.1093/hmg/ddg299. Epub 2003 Sep 2.
- Yang W, Desiderio S. BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. Proc Natl Acad Sci U S A. 1997 Jan 21;94(2):604-9. doi: 10.1073/pnas.94.2.604.
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