From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
GTF2I
Identifiers
Aliases
GTF2I , BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6, general transcription factor IIiExternal IDs
OMIM :
601679 ;
MGI :
1202722 ;
HomoloGene :
7748 ;
GeneCards :
GTF2I ;
OMA :
GTF2I - orthologs
Wikidata
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 .
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
This article incorporates text from the
United States National Library of Medicine , which is in the
public 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 C bHLH-
PAS Group D Group E Group F bHLH-COE
(1.3)
bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2)
Zinc finger DNA-binding domains
(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