HES5

Last updated
HES5
Identifiers
Aliases HES5 , bHLHb38, hes family bHLH transcription factor 5
External IDs OMIM: 607348 MGI: 104876 HomoloGene: 7755 GeneCards: HES5
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001010926

NM_010419
NM_001370755

RefSeq (protein)

NP_001010926

NP_034549
NP_001357684

Location (UCSC) Chr 1: 2.53 – 2.53 Mb Chr 4: 155.05 – 155.05 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor HES-5 is a protein that in humans is encoded by the HES5 gene. [5] [6]

Contents

HES5 regulates the development of the early brain by maintaining stem cell neural progenitors in the ventricular zone. [7] [8] HES5 expression significantly higher in squamous cervical carcinoma than in CIN as well as higher in CIN than normal cervical epithelia. [9] Human HES5 gene binds to Notch receptor and expression of HES5 decreases during cartilage differentiation. [10]

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(HES7) or bHLHb37 is protein coding mammalian gene found on chromosome 17 in humans. HES7 is a member of the Hairy and Enhancer of Split families of Basic helix-loop-helix proteins. The gene product is a transcription factor and is expressed cyclically in the presomitic mesoderm as part of the Notch signalling pathway. HES7 is involved in the segmentation of somites from the presomitic mesoderm in vertebrates. The HES7 gene is self-regulated by a negative feedback loop in which the gene product can bind to its own promoter. This causes the gene to be expressed in an oscillatory manner. The HES7 protein also represses expression of Lunatic Fringe (LFNG) thereby both directly and indirectly regulating the Notch signalling pathway. Mutations in HES7 can result in deformities of the spine, ribs and heart. Spondylocostal dysostosis is a common disease caused by mutations in the HES7 gene. The inheritance pattern of Spondylocostal dysostosis is autosomal recessive.

References

  1. 1 2 3 ENSG00000197921 GRCh38: Ensembl release 89: ENSG00000273529, ENSG00000197921 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000048001 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Takebayashi K, Akazawa C, Nakanishi S, Kageyama R (January 1995). "Structure and promoter analysis of the gene encoding the mouse helix-loop-helix factor HES-5. Identification of the neural precursor cell-specific promoter element". The Journal of Biological Chemistry. 270 (3): 1342–1349. doi: 10.1074/jbc.270.3.1342 . PMID   7836401.
  6. "Entrez Gene: HES5 hairy and enhancer of split 5 (Drosophila)".
  7. Ohtsuka T, Sakamoto M, Guillemot F, Kageyama R (August 2001). "Roles of the basic helix-loop-helix genes Hes1 and Hes5 in expansion of neural stem cells of the developing brain". The Journal of Biological Chemistry. 276 (32): 30467–30474. doi: 10.1074/jbc.M102420200 . PMID   11399758.
  8. Hatakeyama J, Bessho Y, Katoh K, Ookawara S, Fujioka M, Guillemot F, Kageyama R (November 2004). "Hes genes regulate size, shape and histogenesis of the nervous system by control of the timing of neural stem cell differentiation". Development. 131 (22): 5539–5550. doi: 10.1242/dev.01436 . hdl: 2433/144732 . PMID   15496443.
  9. Liu J, Ye F, Chen H, Lü W, Zhou C, Xie X (2007). "Expression of differentiation associated protein Hes1 and Hes5 in cervical squamous carcinoma and its precursors". International Journal of Gynecological Cancer. 17 (6): 1293–1299. doi:10.1111/j.1525-1438.2007.00930.x. PMID   17388915. S2CID   25609083.
  10. Karlsson C, Jonsson M, Asp J, Brantsing C, Kageyama R, Lindahl A (March 2007). "Notch and HES5 are regulated during human cartilage differentiation". Cell and Tissue Research. 327 (3): 539–551. doi:10.1007/s00441-006-0307-0. PMID   17093926. S2CID   33749726.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.