Homeobox protein TGIF1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
TGFB-induced factor homeobox 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols TGIF1 ; HPE4; TGIF
External IDs OMIM602630 MGI1194497 HomoloGene7574 GeneCards: TGIF1 Gene
RNA expression pattern
PBB GE TGIF1 203313 s at tn.png
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 [1] [2]

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[edit]

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[edit]

Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain.[3]

Interactions[edit]

Homeobox protein TGIF1 has been shown to interact with HDAC1,[4][5] CTBP1,[4] C-jun[6] and Mothers against decapentaplegic homolog 2.[6][7]

References[edit]

  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, Massague 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. ^ a b "Entrez Gene: TGIF1 TGFB-induced factor homeobox 1". 
  4. ^ a b Melhuish, T A; 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. (United States) 275 (50): 39762–6. doi:10.1074/jbc.C000416200. ISSN 0021-9258. PMID 10995736. 
  5. ^ Melhuish, T A; Gallo C M; Wotton D (August 2001). "TGIF2 interacts with histone deacetylase 1 and represses transcription". J. Biol. Chem. (United States) 276 (34): 32109–14. doi:10.1074/jbc.M103377200. ISSN 0021-9258. PMID 11427533. 
  6. ^ a b Pessah, M; Prunier C; Marais J; Ferrand N; Mazars A; Lallemand F; Gauthier J M; 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. (United States) 98 (11): 6198–203. doi:10.1073/pnas.101579798. ISSN 0027-8424. PMC 33445. PMID 11371641. 
  7. ^ Wotton, D; Lo R S; Lee S; Massagué J (April 1999). "A Smad transcriptional corepressor". Cell (United States) 97 (1): 29–39. doi:10.1016/S0092-8674(00)80712-6. ISSN 0092-8674. PMID 10199400. 

Further reading[edit]