TGIF1 Antibody – Rabbit Polyclonal

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]

TGIF: 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. Defects in TGIF1 are the cause of holoprosencephaly type 4 (HPE4). Holoprosencephaly (HPE) is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Belongs to the TALE/TGIF homeobox family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Nuclear receptor co-regulator; Transcription, coactivator/corepressor; DNA-binding

Chromosomal Location of Human Ortholog: 18p11.3

Cellular Component: nucleoplasm

Molecular Function: protein binding; chromatin binding; transcription corepressor activity; transcription factor activity

Biological Process: response to drug; transcription initiation from RNA polymerase II promoter; transcription, DNA-dependent; multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of retinoic acid receptor signaling pathway; negative regulation of cell proliferation; positive regulation of fibroblast proliferation; dorsal/ventral pattern formation; retina development in camera-type eye; regulation of gastrulation; transforming growth factor beta receptor signaling pathway; neural tube closure; gene expression; positive regulation of neuron differentiation; determination of left/right symmetry

Disease: Holoprosencephaly 4