Homeobox protein TGIF1

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TGIF1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases TGIF1, HPE4, TGIF, TGFB induced factor homeobox 1
External IDs MGI: 1194497 HomoloGene: 7574 GeneCards: TGIF1
Gene location (Human)
Chromosome 18 (human)
Chr. Chromosome 18 (human)[1]
Chromosome 18 (human)
Genomic location for TGIF1
Genomic location for TGIF1
Band 18p11.31 Start 3,411,608 bp[1]
End 3,459,978 bp[1]
RNA expression pattern
PBB GE TGIF1 203313 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001164074
NM_001164075
NM_001164076
NM_001164077
NM_009372

RefSeq (protein)

NP_001157546
NP_001157547
NP_001157548
NP_001157549
NP_033398

Location (UCSC) Chr 18: 3.41 – 3.46 Mb Chr 17: 70.84 – 70.85 Mb
PubMed search [3] [4]
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:

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000177426 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047407 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  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.
  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.
  7. ^ a b "Entrez Gene: TGIF1 TGFB-induced factor homeobox 1".
  8. ^ 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.
  9. ^ 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.
  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.
  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.

Further reading


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