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MGP003125

UniProt Annotations

Entry Information
Gene NameTGFB-induced factor homeobox 1
Protein EntryTGIF1_HUMAN
UniProt IDQ15583
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q15583-1; Sequence=Displayed; Name=2; IsoId=Q15583-2; Sequence=VSP_013020, VSP_013021; Name=3; IsoId=Q15583-3; Sequence=VSP_043108, VSP_043109; Name=4; IsoId=Q15583-4; Sequence=VSP_046848; Note=No experimental confirmation available.;
DiseaseHoloprosencephaly 4 (HPE4) [MIM:142946]: A 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. {ECO:0000269|PubMed:10835638, ECO:0000269|PubMed:15221788}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionBinds 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.
InteractionO00214:LGALS8; NbExp=10; IntAct=EBI-714215, EBI-740058; P29590:PML; NbExp=3; IntAct=EBI-714215, EBI-295890;
SimilarityBelongs to the TALE/TGIF homeobox family. {ECO:0000305}.
SimilarityContains 1 homeobox DNA-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00108}.
Subcellular LocationNucleus.
SubunitInteracts with CTBP, SMAD2, SMAD3 and HDAC1.
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