Homo sapiens Gene: TGIF1
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:3411608-3459978
Strand Forward strand
Band p11.31
Transcripts
ENST00000345133 ENSP00000343969
ENST00000343820 ENSP00000339631
ENST00000330513 ENSP00000327959
ENST00000400167 ENSP00000383031
ENST00000407501 ENSP00000384133
ENST00000405385 ENSP00000384970
ENST00000401449 ENSP00000385206
ENST00000472042 ENSP00000449501
ENST00000552383 ENSP00000449287
ENST00000547233
ENST00000550958 ENSP00000449531
ENST00000548489 ENSP00000447747
ENST00000549780 ENSP00000448121
ENST00000549253 ENSP00000449973
ENST00000551557
ENST00000546979 ENSP00000448934
ENST00000551402 ENSP00000446944
ENST00000551541 ENSP00000450025
ENST00000549546 ENSP00000449580
ENST00000549468 ENSP00000449722
ENST00000551333 ENSP00000446838
ENST00000577543 ENSP00000462285
ENST00000618001 ENSP00000483499
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.
Experimentally validated
Total 32 [view]
Protein-Protein 31 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0070410 co-SMAD binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001843 neural tube closure
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007275 multicellular organismal development
GO:0007368 determination of left/right symmetry
GO:0008285 negative regulation of cell proliferation
GO:0009953 dorsal/ventral pattern formation
GO:0010467 gene expression
GO:0010470 regulation of gastrulation
GO:0010629 negative regulation of gene expression
GO:0038092 nodal signaling pathway
GO:0042493 response to drug
GO:0045666 positive regulation of neuron differentiation
GO:0048146 positive regulation of fibroblast proliferation
GO:0048387 negative regulation of retinoic acid receptor signaling pathway
GO:0060041 retina development in camera-type eye
GO:0071363 cellular response to growth factor stimulus
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
AndrogenReceptor pathway
EGFR1 pathway
TGF_beta_Receptor pathway
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
KEGG
INOH
PID NCI
Coregulation of Androgen receptor activity
Regulation of nuclear SMAD2/3 signaling
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