Homeobox protein TGIF1

TGIF1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2LK2
Identifiers
Aliases	TGIF1, HPE4, TGIF, TGFB induced factor homeobox 1
External IDs	OMIM: 602630 MGI: 1194497 HomoloGene: 7574 GeneCards: TGIF1
Gene location (Human)
Chr.	Chromosome 18 (human)
End	3,459,978 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	71,160,541 bp
RNA expression pattern
	Top expressed in
	left coronary artery; ; fallopian tube; ; urinary bladder; ; gallbladder; ; corpus epididymis; ; ovary; ; rectum;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; GO:0001948 protein binding; GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific; GO:0001106 transcription corepressor activity; GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific; co-SMAD binding;
Cellular component	nucleus; nucleoplasm;
Biological process	regulation of transcription, DNA-templated; negative regulation of gene expression; multicellular organism development; cellular response to growth factor stimulus; negative regulation of transcription by RNA polymerase II; transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
	7050
	21815
	ENSG00000177426
	ENSMUSG00000047407
	Q15583
	P70284
NM_001278682; NM_001278684; NM_001278686; NM_003244; NM_170695;
	NM_173207; NM_173208; NM_173209; NM_173210; NM_173211; NM_174886; NM_001374396; NM_001374397
	NM_001164074; NM_001164075; NM_001164076; NM_001164077; NM_009372
NP_001265611; NP_001265613; NP_001265615; NP_003235; NP_733796;
	NP_775299; NP_775300; NP_775301; NP_775302; NP_775303; NP_777480; NP_001361325; NP_001361326
	NP_001157546; NP_001157547; NP_001157548; NP_001157549; NP_033398
	Wikidata
View/Edit Human	View/Edit Mouse

Homeobox protein TGIF1 is a protein that, in humans, is encoded by the TGIF1 gene.^[5]^[6]^[7] 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.^[7] 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:

C-jun,^[8]
CTBP1,^[9]
HDAC1,^[9]^[10] and
Mothers against decapentaplegic homolog 2.^[8]^[11]

References[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000177426 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000047407 - 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.
^ Bertolino E, Reimund B, Wildt-Perinic D, Clerc RG (February 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. doi:10.1074/jbc.270.52.31178. PMID 8537382.
^ Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massagué J, Muenke M, Elledge SJ (June 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. S2CID 24723063.
^ ^a ^b "Entrez Gene: TGIF1 TGFB-induced factor homeobox 1".
^ ^a ^b Pessah M, Prunier C, Marais J, Ferrand N, Mazars A, Lallemand F, Gauthier JM, Atfi A (May 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. PMC 33445. PMID 11371641.
^ ^a ^b Melhuish TA, Wotton D (December 2000). "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.
^ Melhuish TA, Gallo CM, Wotton D (August 2001). "TGIF2 interacts with histone deacetylase 1 and represses transcription". J. Biol. Chem. 276 (34): 32109–14. doi:10.1074/jbc.M103377200. PMID 11427533.
^ Wotton D, Lo RS, Lee S, Massagué J (April 1999). "A Smad transcriptional corepressor". Cell. 97 (1): 29–39. doi:10.1016/s0092-8674(00)80712-6. PMID 10199400. S2CID 6907878.

Further reading[]

El-Jaick KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM, Ouspenskaia M, Lacbawan F, Roessler E, Wotton D, Muenke M (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. PMC 1820763. PMID 16962354.
Münke M, Page DC, Brown LG, Armson BA, Zackai EH, Mennuti MT, Emanuel BS (1989). "Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male". Hum. Genet. 80 (3): 219–23. doi:10.1007/BF01790089. PMID 3192211. S2CID 15442879.
Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K, Muenke M (1995). "Physical mapping of the holoprosencephaly critical region in 18p11.3". Am. J. Hum. Genet. 57 (5): 1080–5. PMC 1801375. PMID 7485158.
Wotton D, Lo RS, Lee S, Massagué J (1999). "A Smad transcriptional corepressor". Cell. 97 (1): 29–39. doi:10.1016/S0092-8674(00)80712-6. PMID 10199400. S2CID 6907878.
Yang Y, Hwang CK, D'Souza UM, Lee SH, Junn E, Mouradian MM (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.
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. PMC 140192. PMID 11226163.
Pessah M, Prunier C, Marais J, Ferrand N, Mazars A, Lallemand F, Gauthier JM, Atfi A (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. PMC 33445. 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. PMC 87125. PMID 11416139.
Wotton D, Knoepfler PS, Laherty CD, Eisenman RN, Massagué J (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. doi:10.1210/me.15.11.1918. 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. doi:10.1002/pd.202. PMID 11810641. S2CID 8297098.
Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L, Lazaro L, Odent S, David V (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. S2CID 2238304.
Chen F, Ogawa K, Nagarajan RP, Zhang M, Kuang C, Chen Y (2003). "Regulation of TG-interacting factor by transforming growth factor-beta". Biochem. J. 371 (Pt 2): 257–63. doi:10.1042/BJ20030095. PMC 1223316. PMID 12593671.
Lam DS, Lee WS, Leung YF, Tam PO, Fan DS, Fan BJ, Pang CP (2003). "TGFbeta-induced factor: a candidate gene for high myopia". Invest. Ophthalmol. Vis. Sci. 44 (3): 1012–5. doi:10.1167/iovs.02-0058. PMID 12601022.
Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V (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. S2CID 34076824.

This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by .

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000177426 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000047407 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8537382-5] Bertolino E, Reimund B, Wildt-Perinic D, Clerc RG (February 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. doi:10.1074/jbc.270.52.31178. PMID 8537382.

[pmid10835638-6] Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massagué J, Muenke M, Elledge SJ (June 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. S2CID 24723063.

[entrez-7] "Entrez Gene: TGIF1 TGFB-induced factor homeobox 1".

[pmid11371641-8] Pessah M, Prunier C, Marais J, Ferrand N, Mazars A, Lallemand F, Gauthier JM, Atfi A (May 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. PMC 33445. PMID 11371641.

[pmid10995736-9] Melhuish TA, Wotton D (December 2000). "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.

[pmid11427533-10] Melhuish TA, Gallo CM, Wotton D (August 2001). "TGIF2 interacts with histone deacetylase 1 and represses transcription". J. Biol. Chem. 276 (34): 32109–14. doi:10.1074/jbc.M103377200. PMID 11427533.

[pmid10199400-11] Wotton D, Lo RS, Lee S, Massagué J (April 1999). "A Smad transcriptional corepressor". Cell. 97 (1): 29–39. doi:10.1016/s0092-8674(00)80712-6. PMID 10199400. S2CID 6907878.

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