GTF2I

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General transcription factor IIi

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 ENSG00000077809 ENSMUSG00000060261
UniProt P78347 Q9ESZ8
RefSeq (mRNA) NM_001163636 NM_001080746
RefSeq (protein) NP_001157108 NP_001074215
Location (UCSC) Chr 7:
74.07 – 74.18 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]

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 USF1 (human gene),[4][5] Histone deacetylase 2,[6][7] PRKG1,[8] Myc,[9] MAPK3,[10] HDAC3,[7][11] Serum response factor[1][12] and Bruton's tyrosine kinase.[2][13][14]

References[edit]

  1. ^ a b Grueneberg DA, Henry RW, Brauer A, Novina CD, Cheriyath V, Roy AL, Gilman M (November 1997). "A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I". Genes Dev 11 (19): 2482–93. doi:10.1101/gad.11.19.2482. PMC 316568. PMID 9334314. 
  2. ^ a b Yang W, Desiderio S (March 1997). "BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement". Proc Natl Acad Sci U S A 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. ^ Roy, A L; Du H, Gregor P D, Novina C D, Martinez E, Roeder R G (December 1997). "Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1". EMBO J. (ENGLAND) 16 (23): 7091–104. doi:10.1093/emboj/16.23.7091. ISSN 0261-4189. PMC 1170311. PMID 9384587. 
  5. ^ Roy, A L; Meisterernst M, Pognonec P, Roeder R G (November 1991). "Cooperative interaction of an initiator-binding transcription initiation factor and the helix-loop-helix activator USF". Nature (ENGLAND) 354 (6350): 245–8. doi:10.1038/354245a0. ISSN 0028-0836. PMID 1961251. 
  6. ^ Hakimi, Mohamed-Ali; Dong Yuanshu, Lane William S, Speicher David W, Shiekhattar Ramin (February 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes". J. Biol. Chem. (United States) 278 (9): 7234–9. doi:10.1074/jbc.M208992200. ISSN 0021-9258. PMID 12493763. 
  7. ^ a b Wen, Yu-Der; Cress W Douglas, Roy Ananda L, Seto Edward (January 2003). "Histone deacetylase 3 binds to and regulates the multifunctional transcription factor TFII-I". J. Biol. Chem. (United States) 278 (3): 1841–7. doi:10.1074/jbc.M206528200. ISSN 0021-9258. PMID 12393887. 
  8. ^ Casteel, Darren E; Zhuang Shunhui, Gudi Tanima, Tang Julian, Vuica Milena, Desiderio Stephen, Pilz Renate B (August 2002). "cGMP-dependent protein kinase I beta physically and functionally interacts with the transcriptional regulator TFII-I". J. Biol. Chem. (United States) 277 (35): 32003–14. doi:10.1074/jbc.M112332200. ISSN 0021-9258. PMID 12082086. 
  9. ^ Roy, A L; Carruthers C, Gutjahr T, Roeder R G (September 1993). "Direct role for Myc in transcription initiation mediated by interactions with TFII-I". Nature (ENGLAND) 365 (6444): 359–61. doi:10.1038/365359a0. ISSN 0028-0836. PMID 8377829. 
  10. ^ Kim, D W; Cochran B H (February 2000). "Extracellular signal-regulated kinase binds to TFII-I and regulates its activation of the c-fos promoter". Mol. Cell. Biol. (UNITED STATES) 20 (4): 1140–8. doi:10.1128/MCB.20.4.1140-1148.2000. ISSN 0270-7306. PMC 85232. PMID 10648599. 
  11. ^ Tussié-Luna, María Isabel; Bayarsaihan Dashzeveg, Seto Edward, Ruddle Frank H, Roy Ananda L (October 2002). "Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta". Proc. Natl. Acad. Sci. U.S.A. (United States) 99 (20): 12807–12. doi:10.1073/pnas.192464499. ISSN 0027-8424. PMC 130541. PMID 12239342. 
  12. ^ Kim, D W; Cheriyath V, Roy A L, Cochran B H (June 1998). "TFII-I enhances activation of the c-fos promoter through interactions with upstream elements". Mol. Cell. Biol. (UNITED STATES) 18 (6): 3310–20. ISSN 0270-7306. PMC 108912. PMID 9584171. 
  13. ^ Sacristán, Catarina; Tussié-Luna María Isabel, Logan Sheila M, Roy Ananda L (February 2004). "Mechanism of Bruton's tyrosine kinase-mediated recruitment and regulation of TFII-I". J. Biol. Chem. (United States) 279 (8): 7147–58. doi:10.1074/jbc.M303724200. ISSN 0021-9258. PMID 14623887. 
  14. ^ Novina, C D; Kumar S, Bajpai U, Cheriyath V, Zhang K, Pillai S, Wortis H H, Roy A L (July 1999). "Regulation of nuclear localization and transcriptional activity of TFII-I by Bruton's tyrosine kinase". Mol. Cell. Biol. (UNITED STATES) 19 (7): 5014–24. ISSN 0270-7306. PMC 84330. PMID 10373551. 

Further reading[edit]

External links[edit]

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