GTF2I

General transcription factor II-I is a protein that in humans is encoded by the GTF2I gene.^[5][6][7]

GTF2I
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2D9B, 2DN4, 2ED2, 2EJE
Identifiers
Aliases	GTF2I, BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6, general transcription factor IIi
External IDs	OMIM: 601679; MGI: 1202722; HomoloGene: 7748; GeneCards: GTF2I; OMA:GTF2I - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.23 Start 74,650,231 bp[1] End 74,760,692 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 G2|5 74.48 cM Start 134,237,834 bp[2] End 134,314,760 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence epithelium of colon sural nerve ventricular zone right uterine tube right adrenal cortex right lobe of thyroid gland left lobe of thyroid gland right ovary body of pancreas Top expressed in utricle spermatocyte molar primitive streak vestibular sensory epithelium superior surface of tongue medullary collecting duct renal corpuscle retinal pigment epithelium ciliary body More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding mitogen-activated protein kinase binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA binding DNA-binding transcription factor activity Cellular component soma cell projection membrane nucleus cytoplasm nucleoplasm Biological process negative regulation of angiogenesis transcription, DNA-templated transcription initiation from RNA polymerase II promoter regulation of transcription, DNA-templated signal transduction negative regulation of cytosolic calcium ion concentration transition between slow and fast fiber regulation of transcription by RNA polymerase II transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2969 14886 Ensembl ENSG00000263001 ENSMUSG00000060261 UniProt P78347 Q9ESZ8 RefSeq (mRNA) NM_001163636 NM_001280800 NM_001518 NM_032999 NM_033000 NM_033001 NM_001080746 NM_001080747 NM_001080748 NM_001080749 NM_010365 NM_001359062 NM_001359063 NM_001359064 NM_001359065 NM_001359066 NM_001359067 RefSeq (protein) NP_001157108 NP_001267729 NP_001509 NP_127492 NP_127493 NP_127494 NP_001074215 NP_001074216 NP_001074217 NP_001074218 NP_034495 NP_001345991 NP_001345992 NP_001345993 NP_001345994 NP_001345995 NP_001345996 Location (UCSC) Chr 7: 74.65 – 74.76 Mb Chr 5: 134.24 – 134.31 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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:

• Bruton's tyrosine kinase,^[6][9][10]
• HDAC3,^[11][12]
• Histone deacetylase 2,^[11][13]
• MAPK3,^[14]
• Myc,^[15]
• PRKG1,^[16]
• Serum response factor^[5][17] and
• USF1 (human gene).^[18][19]

References

1. GRCh38: Ensembl release 89: ENSG00000263001 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000060261 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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. Bibcode:1997PNAS...94..604Y. doi:10.1073/pnas.94.2.604. PMC 19560. PMID 9012831.
7. "Entrez Gene: GTF2I general transcription factor II, i".
8. Roy AL (June 2017). "Pathophysiology of TFII-I: Old Guard Wearing New Hats". Trends in Molecular Medicine. 23 (6): 501–511. doi:10.1016/j.molmed.2017.04.002. PMC 5504908. PMID 28461154.
9. 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.
10. 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.
11. 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.
12. 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. Bibcode:2002PNAS...9912807T. doi:10.1073/pnas.192464499. PMC 130541. PMID 12239342.
13. 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.
14. 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.
15. 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. Bibcode:1993Natur.365..359R. doi:10.1038/365359a0. PMID 8377829. S2CID 4354157.
16. 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.
17. 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.
18. 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.
19. 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. Bibcode:1991Natur.354..245R. doi:10.1038/354245a0. PMID 1961251. 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. Bibcode:1991Natur.354..245R. doi:10.1038/354245a0. PMID 1961251. 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. Bibcode:1993Natur.365..359R. doi:10.1038/365359a0. PMID 8377829. 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. 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. Bibcode:2002PNAS...9912807T. 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 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.