GTF2I

General transcription factor IIi
PDB rendering based on 1q60.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2D9B​, 2DN4​, 2ED2​, 2EJE​
Identifiers
Symbols	GTF2I ; BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN; TFII-I; WBS; WBSCR6
External IDs	OMIM: 601679 MGI: 1202722 HomoloGene: 7748 GeneCards: GTF2I Gene
Gene ontology Molecular function • DNA binding • transcription factor activity, sequence-specific DNA binding • protein binding • mitogen-activated protein kinase binding Cellular component • nucleus • nucleoplasm • cytoplasm • membrane • cell projection • neuronal cell body Biological process • regulation of transcription, DNA-templated • transcription from RNA polymerase II promoter • transcription initiation from RNA polymerase II promoter • signal transduction • transition between slow and fast fiber • negative regulation of angiogenesis Sources: Amigo / QuickGO
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

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 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

GTF2I has been shown to interact with:

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

References

1. Grueneberg DA, Henry RW, Brauer A, Novina CD, Cheriyath V, Roy AL, Gilman M (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. 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. "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, Wortis HH, Roy 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. doi:10.1128/mcb.19.7.5014. PMC 84330. PMID 10373551.
6. 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. doi:10.1128/mcb.20.4.1140-1148.2000. 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, Pilz RB (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. doi:10.1128/mcb.18.6.3310. 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

• 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.
• 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.
• 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.
• Pérez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U (Mar 1998). "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". Human Molecular Genetics 7 (3): 325–34. doi:10.1093/hmg/7.3.325. PMID 9466987.
• 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. doi:10.1128/mcb.18.6.3310. PMC 108912. PMID 9584171.
• Cheriyath V, Novina CD, Roy AL (Aug 1998). "TFII-I regulates Vbeta promoter activity through an initiator element". Molecular and Cellular Biology 18 (8): 4444–54. doi:10.1128/mcb.18.8.4444. PMC 109030. PMID 9671454.
• Novina CD, Cheriyath V, Roy AL (Dec 1998). "Regulation of TFII-I activity by phosphorylation". The Journal of Biological Chemistry 273 (50): 33443–8. doi:10.1074/jbc.273.50.33443. PMID 9837922.
• Novina CD, Kumar S, Bajpai U, Cheriyath V, Zhang K, Pillai S, Wortis HH, Roy 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. doi:10.1128/mcb.19.7.5014. PMC 84330. PMID 10373551.
• 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. doi:10.1128/MCB.20.4.1140-1148.2000. PMC 85232. PMID 10648599.
• Cheriyath V, Roy AL (Aug 2000). "Alternatively spliced isoforms of TFII-I. Complex formation, nuclear translocation, and differential gene regulation". The Journal of Biological Chemistry 275 (34): 26300–8. doi:10.1074/jbc.M002980200. PMID 10854432.
• Parker R, Phan T, Baumeister P, Roy B, Cheriyath V, Roy AL, Lee AS (May 2001). "Identification of TFII-I as the endoplasmic reticulum stress response element binding factor ERSF: its autoregulation by stress and interaction with ATF6". Molecular and Cellular Biology 21 (9): 3220–33. doi:10.1128/MCB.21.9.3220-3233.2001. PMC 86961. PMID 11287625.
• Kim DW, Cochran BH (May 2001). "JAK2 activates TFII-I and regulates its interaction with extracellular signal-regulated kinase". Molecular and Cellular Biology 21 (10): 3387–97. doi:10.1128/MCB.21.10.3387-3397.2000. PMC 100260. PMID 11313464.
• Egloff AM, Desiderio S (Jul 2001). "Identification of phosphorylation sites for Bruton's tyrosine kinase within the transcriptional regulator BAP/TFII-I". The Journal of Biological Chemistry 276 (30): 27806–15. doi:10.1074/jbc.M103692200. PMID 11373296.
• Cheriyath V, Desgranges ZP, Roy AL (Jun 2002). "c-Src-dependent transcriptional activation of TFII-I". The Journal of Biological Chemistry 277 (25): 22798–805. doi:10.1074/jbc.M202956200. PMID 11934902.
• Casteel DE, Zhuang S, Gudi T, Tang J, Vuica M, Desiderio S, Pilz RB (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.
• Tussie-Luna MI, Michel B, Hakre S, Roy AL (Nov 2002). "The SUMO ubiquitin-protein isopeptide ligase family member Miz1/PIASxbeta /Siz2 is a transcriptional cofactor for TFII-I". The Journal of Biological Chemistry 277 (45): 43185–93. doi:10.1074/jbc.M207635200. PMID 12193603.
• 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.
• 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.

External links

• GTF2I protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

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