GTF2I
| GTF2I | |||
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| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
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General transcription factor II-I is a protein that in humans is encoded by the GTF2I gene.[5][6][7]
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.[8] 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.[7]
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000263001 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060261 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ PMID 9334314.
- ^ PMID 9012831.
- ^ a b "Entrez Gene: GTF2I general transcription factor II, i".
- PMID 28461154.
- PMID 14623887.
- PMID 10373551.
- ^ PMID 12393887.
- PMID 12239342.
- PMID 12493763.
- PMID 10648599.
- S2CID 4354157.
- PMID 12082086.
- PMID 9584171.
- PMID 9384587.
- S2CID 4260885.
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. S2CID 4260885.
- 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. S2CID 4354157.
- 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 12393887.
External links
- GTF2I+protein,+human at the U.S. 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.
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