TGIF1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| TGFB induced factor homeobox 1 | MIM:602630 | Ensembl:ENSG00000177426 | HGNC:HGNC:11776 | PA36489 | 18p11.31 |
Gene Categories:
DRUG RESISTANCEGO terms in TGIF1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | TAS | GO:0007275 | multicellular organism development |
| BP | IEA | GO:0042493 | response to drug |
| BP | IEA | GO:0071363 | cellular response to growth factor stimulus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0001078 | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IMP | GO:0001078 | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | TAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | TAS | GO:0003714 | transcription corepressor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0070410 | co-SMAD binding |
Gene expression in normal tissue: TGIF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TGIF1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP138 | Androgen receptor signaling pathway |
| wikipathways | WP366 | TGF-beta Signaling Pathway |
| wikipathways | WP3674 | Tgif disruption of Shh signaling |
| wikipathways | WP560 | TGF-beta Receptor Signaling |
| netpath | Pathway_AndrogenReceptor | AndrogenReceptor |
| netpath | Pathway_EGFR1 | EGFR1 |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| pid | ar_pathway | Coregulation of Androgen receptor activity |
| pid | smad2_3nuclearpathway | Regulation of nuclear SMAD2/3 signaling |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2173793 | Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer |
| reactome | R-HSA-2173795 | Downregulation of SMAD2/3:SMAD4 transcriptional activity |
| reactome | R-HSA-2173796 | SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TGIF1
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