Homeobox protein TGIF1

From Wikipedia, the free encyclopedia

TGFB-induced factor homeobox 1

Identifiers

TGIF1; TGIF; HPE4; MGC39747; MGC5066

External IDs

OMIM: 602630 MGI: 1194497 HomoloGene: 7574

Gene ontology
Molecular Function:	• transcription factor activity • transcription corepressor activity • sequence-specific DNA binding
Cellular Component:	• nucleus
Biological Process:	• negative regulation of transcription from RNA polymerase II promoter • regulation of transcription, DNA-dependent • multicellular organismal development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003244 (mRNA)
NP_003235 (protein)

NM_009372 (mRNA)
NP_033398 (protein)

Location

Chr 18: 3.44 - 3.45 Mb

Chr 17: 70.75 - 70.75 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: TGIF1 TGFB-induced factor homeobox 1.

[edit] 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.