GTF2I

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General transcription factor IIi
Protein GTF2I PDB 1q60.png
PDB rendering based on 1q60.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GTF2I ; BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN; TFII-I; WBS; WBSCR6
External IDs OMIM601679 MGI1202722 HomoloGene7748 GeneCards: GTF2I Gene
Orthologs
Species Human Mouse
Entrez 2969 14886
Ensembl ENSG00000263001 ENSMUSG00000060261
UniProt P78347 Q9ESZ8
RefSeq (mRNA) NM_001163636 NM_001080746
RefSeq (protein) NP_001157108 NP_001074215
Location (UCSC) Chr 7:
74.66 – 74.76 Mb
Chr 5:
134.24 – 134.31 Mb
PubMed search [1] [2]

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

Function[edit]

This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. 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.[3]

Interactions[edit]

GTF2I has been shown to interact with:

References[edit]

  1. ^ a b Grueneberg DA, Henry RW, Brauer A, Novina CD, Cheriyath V, Roy AL et al. (Oct 1997). "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. doi:10.1101/gad.11.19.2482. PMC 316568. PMID 9334314. 
  2. ^ a b Yang W, Desiderio S (Jan 1997). "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. doi:10.1073/pnas.94.2.604. PMC 19560. PMID 9012831. 
  3. ^ a b "Entrez Gene: GTF2I general transcription factor II, i". 
  4. ^ Sacristán C, Tussié-Luna MI, Logan SM, Roy AL (Feb 2004). "Mechanism of Bruton's tyrosine kinase-mediated recruitment and regulation of TFII-I". The Journal of Biological Chemistry 279 (8): 7147–58. doi:10.1074/jbc.M303724200. PMID 14623887. 
  5. ^ Novina CD, Kumar S, Bajpai U, Cheriyath V, Zhang K, Pillai S et al. (Jul 1999). "Regulation of nuclear localization and transcriptional activity of TFII-I by Bruton's tyrosine kinase". Molecular and Cellular Biology 19 (7): 5014–24. PMC 84330. PMID 10373551. 
  6. ^ a b Wen YD, Cress WD, Roy AL, Seto E (Jan 2003). "Histone deacetylase 3 binds to and regulates the multifunctional transcription factor TFII-I". The Journal of Biological Chemistry 278 (3): 1841–7. doi:10.1074/jbc.M206528200. PMID 12393887. 
  7. ^ Tussié-Luna MI, Bayarsaihan D, Seto E, Ruddle FH, Roy AL (Oct 2002). "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. doi:10.1073/pnas.192464499. PMC 130541. PMID 12239342. 
  8. ^ Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "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. doi:10.1074/jbc.M208992200. PMID 12493763. 
  9. ^ Kim DW, Cochran BH (Feb 2000). "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. PMC 85232. PMID 10648599. 
  10. ^ Roy AL, Carruthers C, Gutjahr T, Roeder RG (Sep 1993). "Direct role for Myc in transcription initiation mediated by interactions with TFII-I". Nature 365 (6444): 359–61. doi:10.1038/365359a0. PMID 8377829. 
  11. ^ Casteel DE, Zhuang S, Gudi T, Tang J, Vuica M, Desiderio S et al. (Aug 2002). "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. doi:10.1074/jbc.M112332200. PMID 12082086. 
  12. ^ Kim DW, Cheriyath V, Roy AL, Cochran BH (Jun 1998). "TFII-I enhances activation of the c-fos promoter through interactions with upstream elements". Molecular and Cellular Biology 18 (6): 3310–20. PMC 108912. PMID 9584171. 
  13. ^ Roy AL, Du H, Gregor PD, Novina CD, Martinez E, Roeder RG (Dec 1997). "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. doi:10.1093/emboj/16.23.7091. PMC 1170311. PMID 9384587. 
  14. ^ Roy AL, Meisterernst M, Pognonec P, Roeder RG (Nov 1991). "Cooperative interaction of an initiator-binding transcription initiation factor and the helix-loop-helix activator USF". Nature 354 (6350): 245–8. doi:10.1038/354245a0. PMID 1961251. 

Further reading[edit]

External links[edit]

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