Aliases for TGIF1 Gene
External Ids for TGIF1 Gene
Previous HGNC Symbols for TGIF1 Gene
Previous GeneCards Identifiers for TGIF1 Gene
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]
GeneCards Summary for TGIF1 Gene
TGIF1 (TGFB Induced Factor Homeobox 1) is a Protein Coding gene. Diseases associated with TGIF1 include Holoprosencephaly-4 and Midline Interhemispheric Variant Of Holoprosencephaly. Among its related pathways are Gene Expression and Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is PKNOX1.
UniProtKB/Swiss-Prot for TGIF1 Gene
Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities.