Human Gene HES7 (ENST00000317814.8) from GENCODE V44
Description: Homo sapiens hes family bHLH transcription factor 7 (HES7), transcript variant 2, mRNA. (from RefSeq NM_032580) RefSeq Summary (NM_032580): This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. Gencode Transcript: ENST00000317814.8 Gencode Gene: ENSG00000179111.9 Transcript (Including UTRs) Position: hg38 chr17:8,121,571-8,124,084 Size: 2,514 Total Exon Count: 4 Strand: - Coding Region Position: hg38 chr17:8,121,571-8,124,084 Size: 2,514 Coding Exon Count: 4
ID:HES7_HUMAN DESCRIPTION: RecName: Full=Transcription factor HES-7; Short=hHes7; AltName: Full=Class B basic helix-loop-helix protein 37; Short=bHLHb37; AltName: Full=Hairy and enhancer of split 7; AltName: Full=bHLH factor Hes7; FUNCTION: Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity). SUBUNIT: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family (By similarity). SUBCELLULAR LOCATION: Nucleus (Probable). DOMAIN: Has a particular type of basic domain which includes a helix-interrupting proline. DOMAIN: The C-terminal WRPW motif is a transcriptional repression motif which is necessary for interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins (By similarity). DISEASE: Defects in HES7 are the cause of spondylocostal dysostosis type 4 (SCDO4) [MIM:613686]. A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain. SIMILARITY: Contains 1 Orange domain.
ModBase Predicted Comparative 3D Structure on Q9BYE0
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0008134 transcription factor binding GO:0046983 protein dimerization activity