Homeobox protein TGIF1
| TGFB-induced factor homeobox 1 | |||||||||||
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| Symbols | TGIF1 ; TGIF; HPE4; MGC39747; MGC5066 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 7574 | ||||||||||
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| Species | Human | Mouse | |||||||||
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TGFB-induced factor homeobox 1, also known as TGIF1, is a human gene.[1]
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. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described.[1]
References
Further reading
- El-Jaick KB, Powers SE, Bartholin L; et al. (2007). "Functional analysis of mutations in TGIF associated with holoprosencephaly". Mol. Genet. Metab. 90 (1): 97–111. doi:10.1016/j.ymgme.2006.07.011. PMID 16962354.
- Münke M, Page DC, Brown LG; et al. (1989). "Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male". Hum. Genet. 80 (3): 219–23. PMID 3192211.
- Overhauser J, Mitchell HF, Zackai EH; et al. (1995). "Physical mapping of the holoprosencephaly critical region in 18p11.3". Am. J. Hum. Genet. 57 (5): 1080–5. PMID 7485158.
- Bertolino E, Reimund B, Wildt-Perinic D, Clerc RG (1996). "A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif". J. Biol. Chem. 270 (52): 31178–88. PMID 8537382.
- Wotton D, Lo RS, Lee S, Massagué J (1999). "A Smad transcriptional corepressor". Cell. 97 (1): 29–39. PMID 10199400.
- Yang Y, Hwang CK, D'Souza UM; et al. (2000). "Three-amino acid extension loop homeodomain proteins Meis2 and TGIF differentially regulate transcription". J. Biol. Chem. 275 (27): 20734–41. doi:10.1074/jbc.M908382199. PMID 10764806.
- Gripp KW, Wotton D, Edwards MC; et al. (2000). "Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination". Nat. Genet. 25 (2): 205–8. doi:10.1038/76074. PMID 10835638.
- Melhuish TA, Wotton D (2001). "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. doi:10.1074/jbc.C000416200. PMID 10995736.
- Lo RS, Wotton D, Massagué J (2001). "Epidermal growth factor signaling via Ras controls the Smad transcriptional co-repressor TGIF". EMBO J. 20 (1–2): 128–36. doi:10.1093/emboj/20.1.128. PMID 11226163.
- Pessah M, Prunier C, Marais J; et al. (2001). "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. doi:10.1073/pnas.101579798. PMID 11371641.
- Yu X, Li P, Roeder RG, Wang Z (2001). "Inhibition of androgen receptor-mediated transcription by amino-terminal enhancer of split". Mol. Cell. Biol. 21 (14): 4614–25. doi:10.1128/MCB.21.14.4614-4625.2001. PMID 11416139.
- Wotton D, Knoepfler PS, Laherty CD; et al. (2001). "The Smad transcriptional corepressor TGIF recruits mSin3". Cell Growth Differ. 12 (9): 457–63. PMID 11571228.
- Sharma M, Sun Z (2002). "5'TG3' interacting factor interacts with Sin3A and represses AR-mediated transcription". Mol. Endocrinol. 15 (11): 1918–28. PMID 11682623.
- Dintilhac A, Bernués J (2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". J. Biol. Chem. 277 (9): 7021–8. doi:10.1074/jbc.M108417200. PMID 11748221.
- Chen CP, Chern SR, Du SH, Wang W (2002). "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. PMID 11810641.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Aguilella C, Dubourg C, Attia-Sobol J; et al. (2003). "Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations". Hum. Genet. 112 (2): 131–4. doi:10.1007/s00439-002-0862-8. PMID 12522553.
- Chen F, Ogawa K, Nagarajan RP; et al. (2003). "Regulation of TG-interacting factor by transforming growth factor-beta". Biochem. J. 371 (Pt 2): 257–63. doi:10.1042/BJ20030095. PMID 12593671.
- Lam DS, Lee WS, Leung YF; et al. (2003). "TGFbeta-induced factor: a candidate gene for high myopia". Invest. Ophthalmol. Vis. Sci. 44 (3): 1012–5. PMID 12601022.
- Dubourg C, Lazaro L, Pasquier L; et al. (2004). "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. doi:10.1002/humu.20056. PMID 15221788.
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