GTF2I

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)
End	74,760,692 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	134,314,760 bp
RNA expression pattern
	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
	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
	2969
	14886
	ENSG00000263001
	ENSMUSG00000060261
	P78347
	Q9ESZ8
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

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.
^ ^a ^b 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.
^ ^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. Bibcode:1997PNAS...94..604Y. doi:10.1073/pnas.94.2.604. PMC 19560. PMID 9012831.
^ ^a ^b "Entrez Gene: GTF2I general transcription factor II, i".
^ 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.
^ 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.
^ 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.
^ ^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.
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000263001 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9334314-5] 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.

[pmid9012831-6] 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.

[entrez-7] "Entrez Gene: GTF2I general transcription factor II, i".

[pmid28461154-8] 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.

[pmid14623887-9] 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.

[pmid10373551-10] 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.

[pmid12393887-11] 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.

[pmid12239342-12] 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.

[pmid12493763-13] 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.

[pmid10648599-14] 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.

[pmid8377829-15] 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.

[pmid12082086-16] 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.

[pmid9584171-17] 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.

[pmid9384587-18] 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.

[pmid1961251-19] 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.

[5]

GTF2I

Contents

Function

Interactions

References

Further reading

External links