Homo sapiens Gene: TGIF1 | |||||||||||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-489.6 | ||||||||||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||||||||||
Gene Symbol | TGIF1 | ||||||||||||||||||||||||||||||||||||||||
Gene Name | TGFB-induced factor homeobox 1 | ||||||||||||||||||||||||||||||||||||||||
Synonyms | HPE4; TGIF | ||||||||||||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||||||||||||
Ensembl Gene | ENSG00000177426 | ||||||||||||||||||||||||||||||||||||||||
Encoded Proteins |
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
TGFB-induced factor homeobox 1
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Protein Structure | |||||||||||||||||||||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||||||||||||||||||
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 eight variants, encoding four distinct isoforms, are described. [provided by RefSeq, Jul 2008] 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] |
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Gene Information | |||||||||||||||||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||||||||||||||||
Genomic Location | Chromosome 18:3411608-3459978 | ||||||||||||||||||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||||||||||||||||||
Band | p11.31 | ||||||||||||||||||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 32 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||||||||||||||||||
NETPATH |
AndrogenReceptor pathway
EGFR1 pathway
TGF_beta_Receptor pathway
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REACTOME |
Downregulation of SMAD2/3:SMAD4 transcriptional activity pathway
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription pathway
Generic Transcription Pathway pathway
SMAD4 MH2 Domain Mutants in Cancer pathway
Loss of Function of SMAD4 in Cancer pathway
Loss of Function of SMAD2/3 in Cancer pathway
Signaling by TGF-beta Receptor Complex in Cancer pathway
TGFBR2 MSI Frameshift Mutants in Cancer pathway
Signal Transduction pathway
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer pathway
SMAD2/3 MH2 Domain Mutants in Cancer pathway
Loss of Function of TGFBR2 in Cancer pathway
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
TGFBR1 KD Mutants in Cancer pathway
Loss of Function of TGFBR1 in Cancer pathway
TGFBR1 LBD Mutants in Cancer pathway
TGFBR2 Kinase Domain Mutants in Cancer pathway
Gene Expression pathway
Disease pathway
Signaling by TGF-beta Receptor Complex pathway
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KEGG | |||||||||||||||||||||||||||||||||||||||||
INOH | |||||||||||||||||||||||||||||||||||||||||
PID NCI |
Coregulation of Androgen receptor activity
Regulation of nuclear SMAD2/3 signaling
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Cross-References | |||||||||||||||||||||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||||||||||||||||||||
TrEMBL | J3KS32 | ||||||||||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||||||||||
Entrez Gene | 7050 | ||||||||||||||||||||||||||||||||||||||||
UniGene | Hs.373550 Hs.594154 Hs.635841 Hs.733446 Hs.734437 | ||||||||||||||||||||||||||||||||||||||||
RefSeq | NM_001278684 NM_001278686 NM_003244 NM_170695 NM_173207 NM_173208 NM_173209 NM_173210 NM_173211 NM_174886 | ||||||||||||||||||||||||||||||||||||||||
HUGO | HGNC:11776 | ||||||||||||||||||||||||||||||||||||||||
OMIM | 602630 | ||||||||||||||||||||||||||||||||||||||||
CCDS | CCDS11832 CCDS11833 CCDS11834 CCDS11835 | ||||||||||||||||||||||||||||||||||||||||
HPRD | 04023 | ||||||||||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||||||||||
EMBL | AP001025 | ||||||||||||||||||||||||||||||||||||||||
GenPept | |||||||||||||||||||||||||||||||||||||||||
RNA Seq Atlas | 7050 | ||||||||||||||||||||||||||||||||||||||||