TGIF1 Gene Summary [Human]
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. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | TGIF1 |
| Official Name | TGFB induced factor homeobox 1 [Source:HGNC Symbol;Acc:HGNC:11776] |
| Ensembl ID | ENSG00000177426 |
| Bio databases IDs | |
| Aliases | TGFB induced factor homeobox 1 |
| Synonyms | HPE4, Tfig, TGFB-induced factor homeobox 1, Tgfi, TGIF |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TGIF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- transcription regulator
- nucleic acid binding
- chromatin binding
- JUN kinase binding
- protein binding
- sequence-specific DNA binding
- Hdac1 binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- transcription repression domain
- TALE motif
- double-stranded DNA binding
- homeodomain
- transcription factor activity
Pathways
Biological processes and signaling networks where the TGIF1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- exencephaly
- hearing loss
- global developmental delay with intellectual disability
- survival
- otitis media with effusion
- diabetic nephropathy
- conductive hearing loss
- growth failure
- holoprosencephaly-4
- colon neoplasm
role in cell
- phosphorylation in
- proliferation
- expression in
- growth
- formation
- differentiation
- repression in
- elongation in
- growth in
- extension in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TGIF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of gene expression
- cellular response to growth factor stimulus
- response to xenobiotic stimulus
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- co-SMAD binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity