HEYL

Last updated
HEYL
Identifiers
Aliases HEYL , HESR3, HEY3, HRT3, bHLHb33, hes related family bHLH transcription factor with YRPW motif-like, hes related family bHLH transcription factor with YRPW motif like
External IDs OMIM: 609034 MGI: 1860511 HomoloGene: 8494 GeneCards: HEYL
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014571

NM_013905

RefSeq (protein)

NP_055386

NP_038933

Location (UCSC) Chr 1: 39.62 – 39.64 Mb Chr 4: 123.13 – 123.14 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Hairy/enhancer-of-split related with YRPW motif-like protein is a protein that in humans is encoded by the HEYL gene. [5] [6] [7]

Contents

This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [7]

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<span class="mw-page-title-main">HES7 gene</span> Protein-coding gene in humans

(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 GRCh38: Ensembl release 89: ENSG00000163909 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032744 - 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. Leimeister C, Externbrink A, Klamt B, Gessler M (Sep 1999). "Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis". Mech Dev. 85 (1–2): 173–7. doi:10.1016/S0925-4773(99)00080-5. PMID   10415358. S2CID   17342136.
  6. Steidl C, Leimeister C, Klamt B, Maier M, Nanda I, Dixon M, Clarke R, Schmid M, Gessler M (Aug 2000). "Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family". Genomics. 66 (2): 195–203. doi:10.1006/geno.2000.6200. PMID   10860664.
  7. 1 2 "Entrez Gene: HEYL hairy/enhancer-of-split related with YRPW motif-like".

Further reading

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