Homeobox protein TGIF1

TGFB-induced factor homeobox 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols TGIF1 ; HPE4; TGIF
External IDs OMIM: 602630 MGI: 1194497 HomoloGene: 7574 GeneCards: TGIF1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 7050 21815
Ensembl ENSG00000177426 ENSMUSG00000047407
UniProt Q15583 P70284
RefSeq (mRNA) NM_001278682 NM_001164074
RefSeq (protein) NP_001265611 NP_001157546
Location (UCSC) Chr 18:
3.41 – 3.46 Mb
Chr 17:
70.84 – 70.85 Mb
PubMed search

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]

Interactions

Homeobox protein TGIF1 has been shown to interact with:

References

  1. 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.
  2. 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.
  3. 1 2 "Entrez Gene: TGIF1 TGFB-induced factor homeobox 1".
  4. 1 2 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.
  5. 1 2 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.
  6. 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.
  7. 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.

Further reading


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