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 18: 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[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.[7] It has also been associated with risk of otitis media (inflammation of the middle ear)

Interactions[edit]

Homeobox protein TGIF1 has been shown to interact with:

References[edit]

  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 33445Freely accessible. 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[edit]