TGIF1 Gene - TGFB-Induced Factor Homeobox 1
Transcriptional Repressor in Retinoic Acid and TGF-β Signaling
Gene Information Card
| Symbol | TGIF1 |
|---|---|
| Full Name | TGFB-Induced Factor Homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.31 |
| NCBI Gene ID | 7050 ncbi.nlm.nih.gov/gene/7050 |
| Ensembl ID | ENSG00000177426 |
| UniProt ID | Q15583 |
| OMIM ID | 602630 |
| HGNC ID | 11776 |
| Aliases | TGIF, HPE4, MGC39747 |
Description
TGIF1 encodes a homeodomain-containing transcriptional repressor that modulates retinoic acid and TGF-β signaling pathways. It competes with retinoic acid receptors for DNA binding and recruits histone deacetylases to repress gene expression. Mutations in TGIF1 are associated with holoprosencephaly type 4 (HPE4), a severe brain malformation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Holoprosencephaly 4 (HPE4) | Loss-of-function mutations impair transcriptional repression of retinoic acid target genes, disrupting forebrain development | OMIM #142945; ClinVar |
| Microform holoprosencephaly | Heterozygous missense variants reduce repressor activity, leading to mild craniofacial anomalies | OMIM #602630; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Liver | 1.5 | Low |
| Testis | 3.8 | Medium |
| Kidney | 1.2 | Low |
| Heart | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.5 | Moderate expression |
| HeLa | 1.8 | Low expression |
| SH-SY5Y | 3.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116Cys) | Missense | Rare | Reduced DNA binding and repressor activity |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Impaired nuclear localization |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most HPE4-associated mutations result in loss of repressor function, leading to derepression of retinoic acid target genes.
Gain of Function (GOF)
Not reported for TGIF1.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by interfering with wild-type TGIF1 or co-repressor complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinoic acid signaling pathway
• TGF-β signaling pathway
• Transcriptional misregulation in cancer
Protein Summary
TGIF1 is a 401-amino acid homeodomain protein that functions as a transcriptional repressor. It contains an N-terminal homeodomain for DNA binding and a C-terminal domain that interacts with histone deacetylases (HDACs). By competing with retinoic acid receptors and SMAD proteins, TGIF1 fine-tunes gene expression during development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGIF1 Knockout HEK293 Cell Line | EDJ-KQ410 | Human | 7050 | Details Get a Quote |
| TGIF1 Knockout A-549 Cell Line | EDJ-KQ18665 | Human | 7050 | Details Get a Quote |
| TGIF1 Knockout HCT 116 Cell Line | EDJ-KQ18666 | Human | 7050 | Details Get a Quote |
| TGIF1 Knockout HeLa Cell Line | EDJ-KQ18667 | Human | 7050 | Details Get a Quote |
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