Description: Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 1, mRNA. RefSeq Summary (NM_005078): This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]. Transcript (Including UTRs) Position: hg19 chr15:70,340,543-70,390,256 Size: 49,714 Total Exon Count: 20 Strand: - Coding Region Position: hg19 chr15:70,342,436-70,389,137 Size: 46,702 Coding Exon Count: 20
ID:TLE3_HUMAN DESCRIPTION: RecName: Full=Transducin-like enhancer protein 3; AltName: Full=Enhancer of split groucho-like protein 3; Short=ESG3; FUNCTION: Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES (By similarity). SUBUNIT: Homotetramer and heterooligomer with other family members. Binds LEF1, TCF7 and TCF7L1 (By similarity). Binds FOXA2. Interacts with XIAP/BIRC4 and TCF7L2/TCF4. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Placenta and lung. PTM: Ubiquitinated by XIAP/BIRC4. This ubiquitination does not affect its stability, nuclear localization, or capacity to tetramerize but inhibits its interaction with TCF7L2/TCF4. SIMILARITY: Belongs to the WD repeat Groucho/TLE family. SIMILARITY: Contains 7 WD repeats. SEQUENCE CAUTION: Sequence=BAB13373.1; Type=Erroneous initiation;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TLE3 CDC HuGE Published Literature: TLE3 Positive Disease Associations: Bipolar Disorder
, Hip Related Studies:
Bipolar Disorder Laura J Scott et al. Proceedings of the National Academy of Sciences of the United States of America 2009, Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry., Proceedings of the National Academy of Sciences of the United States of America.
[PubMed 19416921]
Hip Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903296]
The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
Hip Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903296]
The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q04726
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
