Homeobox protein TGIF1

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.

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; OMA:TGIF1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18p11.31 Start 3,411,608 bp[1] End 3,459,978 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 E1.3 Start 71,151,200 bp[2] End 71,160,541 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium gallbladder ventricular zone corpus epididymis rectum gastric mucosa right uterine tube left uterine tube cartilage tissue skin of abdomen Top expressed in tail of embryo genital tubercle saccule embryo ectoderm otic vesicle otic placode epiblast lip primitive streak More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein binding DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific transcription corepressor activity 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 Species Human Mouse Entrez 7050 21815 Ensembl ENSG00000177426 ENSMUSG00000047407 UniProt Q15583 P70284 RefSeq (mRNA) 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 RefSeq (protein) 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 Location (UCSC) Chr 18: 3.41 – 3.46 Mb Chr 17: 71.15 – 71.16 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]