Sequence in raw or FASTA format:
HES7 hes family bHLH transcription factor 7 [Homo sapiens (human)]
|Entrez Gene ID||84667|
|Full Name||hes family bHLH transcription factor 7|
|General protein information|
|Organism||Homo sapiens (human)|
|Summary||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].|
Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
|Homo sapiens (human)||HES7||NP_115969.2|
|Canis lupus familiaris (dog)||HES7||XP_850055.2|
|Bos taurus (cattle)||HES7||NP_001193208.1|
|Mus musculus (house mouse)||Hes7||NP_149030.2|
|Rattus norvegicus (Norway rat)||Hes7||NP_001099262.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||LOC100135364||NP_001107508.1|
|GO:0000122||negative regulation of transcription from RNA polymerase II promoter||IEA|
|GO:0001501||skeletal system development||IEA|
|GO:0007219||Notch signaling pathway||IEA|
|GO:0014807||regulation of somitogenesis||IEA|
|GO:0036342||post-anal tail morphogenesis||IEA|
|GO:0008134||transcription factor binding||NAS|
|GO:0046983||protein dimerization activity||IEA|
What is the normal function of the HES7 gene?
The HES7 gene provides instructions for making a transcription factor, which is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The HES7 protein controls the activity of genes in the Notch pathway, an important pathway in embryonic development. The Notch pathway plays a critical role in the development of vertebrae. Specifically, the HES7 protein and the Notch pathway are involved in separating future vertebrae from one another during early development, a complex process called somite segmentation. Although the exact mechanism of somite segmentation is unclear, it appears to require the activity of several proteins in the Notch pathway, including the NOTCH1 protein and the HES7 protein, to be turned on and off in a specific pattern (oscillate).
The HES7 protein turns off (represses) the activity of genes in the Notch pathway, which helps to regulate the activity of the NOTCH1 protein.
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