Protein-coding gene in humans
GTF2I Identifiers Aliases GTF2I External IDs OMIM :601679 ;MGI :1202722 ;HomoloGene :7748 ;GeneCards :GTF2I ;OMA :GTF2I - orthologs Wikidata
General transcription factor II-I is aprotein that in humans is encoded by theGTF2I gene .[ 5] [ 6] [ 7]
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 inWilliams-Beuren syndrome , a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. It is duplicated in the7q11.23 duplication syndrome .[ 8] [ 7]
GTF2I has been shown tointeract with:
^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 . 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 . This article incorporates text from theUnited States National Library of Medicine , which is in thepublic domain .
PDB gallery
1q60 : Solution Structure of RSGI RUH-004, a GTF2I domain in Mouse cDNA
2d9b : Solution Structure of RSGI RUH-052, a GTF2I domain in human cDNA
2dn4 : Solution Structure of RSGI RUH-060, a GTF2I domain in human cDNA
(1) Basic domains
(1.1) Basic leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH )
Group A Group B Group CPAS Group D Group E Group F
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2.1) Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4)β-Scaffold factors with minor groove contacts
(0) Other transcription factors
