Biology:Homeobox protein TGIF1
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Short description: Protein found in humans
 Generic protein structure example |
Homeobox protein TGIF1 is a protein that, in humans, is encoded by the TGIF1 gene.[1][2][3] Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described.
Function
The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult.
Clinical significance
Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain.[3] It has also been associated with risk of otitis media (inflammation of the middle ear)
Interactions
Homeobox protein TGIF1 has been shown to interact with:
References
- ↑ "A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif". J Biol Chem 270 (52): 31178–88. February 1996. doi:10.1074/jbc.270.52.31178. PMID 8537382.
- ↑ "Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination". Nat Genet 25 (2): 205–8. June 2000. doi:10.1038/76074. PMID 10835638.
- ↑ 3.0 3.1 "Entrez Gene: TGIF1 TGFB-induced factor homeobox 1". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=7050.
- ↑ 4.0 4.1 "c-Jun interacts with the corepressor TG-interacting factor (TGIF) to suppress Smad2 transcriptional activity". Proc. Natl. Acad. Sci. U.S.A. 98 (11): 6198–203. May 2001. doi:10.1073/pnas.101579798. PMID 11371641. Bibcode: 2001PNAS...98.6198P.
- ↑ 5.0 5.1 "The interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF". J. Biol. Chem. 275 (50): 39762–6. December 2000. doi:10.1074/jbc.C000416200. PMID 10995736.
- ↑ "TGIF2 interacts with histone deacetylase 1 and represses transcription". J. Biol. Chem. 276 (34): 32109–14. August 2001. doi:10.1074/jbc.M103377200. PMID 11427533.
- ↑ "A Smad transcriptional corepressor". Cell 97 (1): 29–39. April 1999. doi:10.1016/s0092-8674(00)80712-6. PMID 10199400.
Further reading
- "Functional analysis of mutations in TGIF associated with holoprosencephaly". Mol. Genet. Metab. 90 (1): 97–111. 2007. doi:10.1016/j.ymgme.2006.07.011. PMID 16962354.
- "Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male". Hum. Genet. 80 (3): 219–23. 1989. doi:10.1007/BF01790089. PMID 3192211.
- "Physical mapping of the holoprosencephaly critical region in 18p11.3". Am. J. Hum. Genet. 57 (5): 1080–5. 1995. PMID 7485158.
- "A Smad transcriptional corepressor". Cell 97 (1): 29–39. 1999. doi:10.1016/S0092-8674(00)80712-6. PMID 10199400.
- "Three-amino acid extension loop homeodomain proteins Meis2 and TGIF differentially regulate transcription". J. Biol. Chem. 275 (27): 20734–41. 2000. doi:10.1074/jbc.M908382199. PMID 10764806.
- "The interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF". J. Biol. Chem. 275 (50): 39762–6. 2001. doi:10.1074/jbc.C000416200. PMID 10995736.
- "Epidermal growth factor signaling via Ras controls the Smad transcriptional co-repressor TGIF". EMBO J. 20 (1–2): 128–36. 2001. doi:10.1093/emboj/20.1.128. PMID 11226163.
- "c-Jun interacts with the corepressor TG-interacting factor (TGIF) to suppress Smad2 transcriptional activity". Proc. Natl. Acad. Sci. U.S.A. 98 (11): 6198–203. 2001. doi:10.1073/pnas.101579798. PMID 11371641. Bibcode: 2001PNAS...98.6198P.
- "Inhibition of androgen receptor-mediated transcription by amino-terminal enhancer of split". Mol. Cell. Biol. 21 (14): 4614–25. 2001. doi:10.1128/MCB.21.14.4614-4625.2001. PMID 11416139.
- "The Smad transcriptional corepressor TGIF recruits mSin3". Cell Growth Differ. 12 (9): 457–63. 2001. PMID 11571228.
- "5'TG3' interacting factor interacts with Sin3A and represses AR-mediated transcription". Mol. Endocrinol. 15 (11): 1918–28. 2002. doi:10.1210/mend.15.11.0732. PMID 11682623.
- "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". J. Biol. Chem. 277 (9): 7021–8. 2002. doi:10.1074/jbc.M108417200. PMID 11748221.
- "Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis". Prenat. Diagn. 22 (1): 5–7. 2002. doi:10.1002/pd.202. PMID 11810641.
- "Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations". Hum. Genet. 112 (2): 131–4. 2003. doi:10.1007/s00439-002-0862-8. PMID 12522553.
- "Regulation of TG-interacting factor by transforming growth factor-beta". Biochem. J. 371 (Pt 2): 257–63. 2003. doi:10.1042/BJ20030095. PMID 12593671.
- "TGFbeta-induced factor: a candidate gene for high myopia". Invest. Ophthalmol. Vis. Sci. 44 (3): 1012–5. 2003. doi:10.1167/iovs.02-0058. PMID 12601022.
- "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations". Hum. Mutat. 24 (1): 43–51. 2004. doi:10.1002/humu.20056. PMID 15221788.
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