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HES7 hes family bHLH transcription factor 7 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001165967 Homo sapiens hes family bHLH transcription factor 7 (HES7), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_032580 Homo sapiens hes family bHLH transcription factor 7 (HES7), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Related Services

Gene Symbol HES7
Entrez Gene ID 84667
Full Name hes family bHLH transcription factor 7
Synonyms SCDO4, bHLHb37
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17p13.1

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].
Disorder

MIM: 608059

Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)

mRNA Protein Product Sequence Price Select
NM_001165967, 260166649 NP_001159439, 260166650 transcription factor HES-7 isoform 1 ORF Sequence $250.00
NM_032580, 260166648 NP_115969, 145207994 transcription factor HES-7 isoform 2 ORF Sequence $250.00
Homo sapiens (human)HES7NP_115969.2
Canis lupus familiaris (dog)HES7XP_850055.2
Bos taurus (cattle)HES7NP_001193208.1
Mus musculus (house mouse)Hes7NP_149030.2
Rattus norvegicus (Norway rat)Hes7NP_001099262.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100135364NP_001107508.1
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterIEA
GO:0001501skeletal system developmentIEA
GO:0001756somitogenesisIEA
GO:0006351transcription, DNA-templatedIEA
GO:0007219Notch signaling pathwayIEA
GO:0007498mesoderm developmentNAS
GO:0014807regulation of somitogenesisIEA
GO:0036342post-anal tail morphogenesisIEA
GO:0048511rhythmic processIEA
Component
IDNameEvidence
GO:0005634nucleusNAS
Function
IDNameEvidence
GO:0003677DNA bindingNAS
GO:0008134transcription factor bindingNAS
GO:0046983protein dimerization activityIEA
GeneCards HES7
UniProt Q9BYE0
Vega OTTHUMG00000178316
MIM 608059
Ensembl ENSG00000179111
HGNC 15977
HPRD 09729

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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