Biology:GTF2I

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

General transcription factor II-I is a protein that in humans is encoded by the GTF2I gene.[1][2][3]

Function

This gene encodes a multifunctional phosphoprotein, TFII-I, with roles in transcription and signal transduction. Haploinsuffiency (deletion of one copy) of the GTF2I gene is noted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. It is duplicated in the 7q11.23 duplication syndrome.[4] The exon(s) encoding 5' UTR has not been fully defined, but this gene is known to contain at least 34 exons, and its alternative splicing generates 4 transcript variants in humans.[3] A single gain-of-function point mutation in GTF2I is also found in certain Thymomas. Single nucleotide polymorphism (SNP) in GTF2I is correlated to autoimmune disorders.

Interactions

GTF2I has been shown to interact with:


References

  1. ↑ 1.0 1.1 "A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I". Genes & Development 11 (19): 2482–93. Oct 1997. doi:10.1101/gad.11.19.2482. PMID 9334314. 
  2. ↑ 2.0 2.1 "BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement". Proceedings of the National Academy of Sciences of the United States of America 94 (2): 604–9. Jan 1997. doi:10.1073/pnas.94.2.604. PMID 9012831. Bibcode: 1997PNAS...94..604Y. 
  3. ↑ 3.0 3.1 "Entrez Gene: GTF2I general transcription factor II, i". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2969. 
  4. ↑ "Pathophysiology of TFII-I: Old Guard Wearing New Hats". Trends in Molecular Medicine 23 (6): 501–511. June 2017. doi:10.1016/j.molmed.2017.04.002. PMID 28461154. 
  5. ↑ "Mechanism of Bruton's tyrosine kinase-mediated recruitment and regulation of TFII-I". The Journal of Biological Chemistry 279 (8): 7147–58. Feb 2004. doi:10.1074/jbc.M303724200. PMID 14623887. 
  6. ↑ "Regulation of nuclear localization and transcriptional activity of TFII-I by Bruton's tyrosine kinase". Molecular and Cellular Biology 19 (7): 5014–24. Jul 1999. doi:10.1128/mcb.19.7.5014. PMID 10373551. 
  7. ↑ 7.0 7.1 "Histone deacetylase 3 binds to and regulates the multifunctional transcription factor TFII-I". The Journal of Biological Chemistry 278 (3): 1841–7. Jan 2003. doi:10.1074/jbc.M206528200. PMID 12393887. 
  8. ↑ "Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta". Proceedings of the National Academy of Sciences of the United States of America 99 (20): 12807–12. Oct 2002. doi:10.1073/pnas.192464499. PMID 12239342. Bibcode: 2002PNAS...9912807T. 
  9. ↑ "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes". The Journal of Biological Chemistry 278 (9): 7234–9. Feb 2003. doi:10.1074/jbc.M208992200. PMID 12493763. 
  10. ↑ "Extracellular signal-regulated kinase binds to TFII-I and regulates its activation of the c-fos promoter". Molecular and Cellular Biology 20 (4): 1140–8. Feb 2000. doi:10.1128/mcb.20.4.1140-1148.2000. PMID 10648599. 
  11. ↑ "Direct role for Myc in transcription initiation mediated by interactions with TFII-I". Nature 365 (6444): 359–61. Sep 1993. doi:10.1038/365359a0. PMID 8377829. Bibcode: 1993Natur.365..359R. 
  12. ↑ "cGMP-dependent protein kinase I beta physically and functionally interacts with the transcriptional regulator TFII-I". The Journal of Biological Chemistry 277 (35): 32003–14. Aug 2002. doi:10.1074/jbc.M112332200. PMID 12082086. 
  13. ↑ "TFII-I enhances activation of the c-fos promoter through interactions with upstream elements". Molecular and Cellular Biology 18 (6): 3310–20. Jun 1998. doi:10.1128/mcb.18.6.3310. PMID 9584171. 
  14. ↑ "Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1". The EMBO Journal 16 (23): 7091–104. Dec 1997. doi:10.1093/emboj/16.23.7091. PMID 9384587. 
  15. ↑ "Cooperative interaction of an initiator-binding transcription initiation factor and the helix-loop-helix activator USF". Nature 354 (6350): 245–8. Nov 1991. doi:10.1038/354245a0. PMID 1961251. Bibcode: 1991Natur.354..245R. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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