- Homeobox protein TGIF1
TGFB-induced factor homeobox 1, also known as TGIF1, is a human
gene .cite web | title = Entrez Gene: TGIF1 TGFB-induced factor homeobox 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7050| accessdate = ]PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: TGIF1 TGFB-induced factor homeobox 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7050| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=El-Jaick KB, Powers SE, Bartholin L, "et al." |title=Functional analysis of mutations in TGIF associated with holoprosencephaly. |journal=Mol. Genet. Metab. |volume=90 |issue= 1 |pages= 97–111 |year= 2007 |pmid= 16962354 |doi= 10.1016/j.ymgme.2006.07.011
*cite journal | author=Münke M, Page DC, Brown LG, "et al." |title=Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male. |journal=Hum. Genet. |volume=80 |issue= 3 |pages= 219–23 |year= 1989 |pmid= 3192211 |doi=
*cite journal | author=Overhauser J, Mitchell HF, Zackai EH, "et al." |title=Physical mapping of the holoprosencephaly critical region in 18p11.3. |journal=Am. J. Hum. Genet. |volume=57 |issue= 5 |pages= 1080–5 |year= 1995 |pmid= 7485158 |doi=
*cite journal | author=Bertolino E, Reimund B, Wildt-Perinic D, Clerc RG |title=A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. |journal=J. Biol. Chem. |volume=270 |issue= 52 |pages= 31178–88 |year= 1996 |pmid= 8537382 |doi=
*cite journal | author=Wotton D, Lo RS, Lee S, Massagué J |title=A Smad transcriptional corepressor. |journal=Cell |volume=97 |issue= 1 |pages= 29–39 |year= 1999 |pmid= 10199400 |doi=
*cite journal | author=Yang Y, Hwang CK, D'Souza UM, "et al." |title=Three-amino acid extension loop homeodomain proteins Meis2 and TGIF differentially regulate transcription. |journal=J. Biol. Chem. |volume=275 |issue= 27 |pages= 20734–41 |year= 2000 |pmid= 10764806 |doi= 10.1074/jbc.M908382199
*cite journal | author=Gripp KW, Wotton D, Edwards MC, "et al." |title=Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. |journal=Nat. Genet. |volume=25 |issue= 2 |pages= 205–8 |year= 2000 |pmid= 10835638 |doi= 10.1038/76074
*cite journal | author=Melhuish TA, Wotton D |title=The interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF. |journal=J. Biol. Chem. |volume=275 |issue= 50 |pages= 39762–6 |year= 2001 |pmid= 10995736 |doi= 10.1074/jbc.C000416200
*cite journal | author=Lo RS, Wotton D, Massagué J |title=Epidermal growth factor signaling via Ras controls the Smad transcriptional co-repressor TGIF. |journal=EMBO J. |volume=20 |issue= 1-2 |pages= 128–36 |year= 2001 |pmid= 11226163 |doi= 10.1093/emboj/20.1.128
*cite journal | author=Pessah M, Prunier C, Marais J, "et al." |title=c-Jun interacts with the corepressor TG-interacting factor (TGIF) to suppress Smad2 transcriptional activity. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 11 |pages= 6198–203 |year= 2001 |pmid= 11371641 |doi= 10.1073/pnas.101579798
*cite journal | author=Yu X, Li P, Roeder RG, Wang Z |title=Inhibition of androgen receptor-mediated transcription by amino-terminal enhancer of split. |journal=Mol. Cell. Biol. |volume=21 |issue= 14 |pages= 4614–25 |year= 2001 |pmid= 11416139 |doi= 10.1128/MCB.21.14.4614-4625.2001
*cite journal | author=Wotton D, Knoepfler PS, Laherty CD, "et al." |title=The Smad transcriptional corepressor TGIF recruits mSin3. |journal=Cell Growth Differ. |volume=12 |issue= 9 |pages= 457–63 |year= 2001 |pmid= 11571228 |doi=
*cite journal | author=Sharma M, Sun Z |title=5'TG3' interacting factor interacts with Sin3A and represses AR-mediated transcription. |journal=Mol. Endocrinol. |volume=15 |issue= 11 |pages= 1918–28 |year= 2002 |pmid= 11682623 |doi=
*cite journal | author=Dintilhac A, Bernués J |title=HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences. |journal=J. Biol. Chem. |volume=277 |issue= 9 |pages= 7021–8 |year= 2002 |pmid= 11748221 |doi= 10.1074/jbc.M108417200
*cite journal | author=Chen CP, Chern SR, Du SH, Wang W |title=Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. |journal=Prenat. Diagn. |volume=22 |issue= 1 |pages= 5–7 |year= 2002 |pmid= 11810641 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Aguilella C, Dubourg C, Attia-Sobol J, "et al." |title=Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. |journal=Hum. Genet. |volume=112 |issue= 2 |pages= 131–4 |year= 2003 |pmid= 12522553 |doi= 10.1007/s00439-002-0862-8
*cite journal | author=Chen F, Ogawa K, Nagarajan RP, "et al." |title=Regulation of TG-interacting factor by transforming growth factor-beta. |journal=Biochem. J. |volume=371 |issue= Pt 2 |pages= 257–63 |year= 2003 |pmid= 12593671 |doi= 10.1042/BJ20030095
*cite journal | author=Lam DS, Lee WS, Leung YF, "et al." |title=TGFbeta-induced factor: a candidate gene for high myopia. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 3 |pages= 1012–5 |year= 2003 |pmid= 12601022 |doi=
*cite journal | author=Dubourg C, Lazaro L, Pasquier L, "et al." |title=Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. |journal=Hum. Mutat. |volume=24 |issue= 1 |pages= 43–51 |year= 2004 |pmid= 15221788 |doi= 10.1002/humu.20056PBB_Controls
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