BHLHE41

BHLHE41
Identifiers
Aliases BHLHE41, BHLHB3, DEC2, SHARP1, hDEC2, basic helix-loop-helix family member e41
External IDs HomoloGene: 137401 GeneCards: BHLHE41
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

79365

n/a

Ensembl

ENSG00000123095

n/a

UniProt

Q9C0J9

n/a

RefSeq (mRNA)

NM_030762

n/a

RefSeq (protein)

NP_110389.1

n/a

Location (UCSC) Chr 12: 26.12 – 26.13 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

"Basic helix-loop-helix family, member e41", or BHLHE41, is a gene that encodes, as the name implies, a basic helix-loop-helix protein in various tissues of both humans and mice.[2] [3][4][5][6] It also known as DEC2, hDEC2, and SHARP1, and was previously known as "basic helix-loop-helix domain containing, class B, 3", or BHLHB3.[7]

Function

This gene encodes a transcription factor that belongs to the Hairy/Enhancer of Split subfamily of basic helix-loop-helix factors. The encoded protein functions as a transcriptional repressor and as a regulator of molecular clock.[6]

In mice lacking SHARP1 and SHARP2, IGF-2 is elevated and so memory consolidation is enhanced.[8]

Clinical significance

Defects in this gene are associated with the short sleep phenotype .[6] A particular genetic variation in the gene affects sleep duration in humans, and introduction of the human gene into mice also reduces their sleep requirements. This genetic variation was discovered by Ying-Hui Fu's lab.[9][10]

References

  1. "Human PubMed Reference:".
  2. "BHLHE41 basic helix-loop-helix family, member e41 [ Homo sapiens (human) ]". National Center for Biotechnology Information. Retrieved 2014-05-27.
  3. "Bhlhe41 basic helix-loop-helix family, member e41 [ Mus musculus (house mouse) ]". NCBI. Retrieved 2014-05-27.
  4. Fujimoto K, Shen M, Noshiro M, Matsubara K, Shingu S, Honda K, Yoshida E, Suardita K, Matsuda Y, Kato Y (February 2001). "Molecular cloning and characterization of DEC2, a new member of basic helix-loop-helix proteins". Biochem Biophys Res Commun. 280 (1): 164–71. doi:10.1006/bbrc.2000.4133. PMID 11162494.
  5. Stevens JD, Roalson EH, Skinner MK (December 2008). "Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation". Differentiation. 76 (9): 1006–22. doi:10.1111/j.1432-0436.2008.00285.x. PMID 18557763.
  6. 1 2 3 "Entrez Gene: BHLHB3 basic helix-loop-helix domain containing, class B, 3".
  7. "Basic Helix-Loop-Helix Family, Member E41". Weizmann Institute of Science. Archived from the original on 2014-05-28. Retrieved 2014-05-27.
  8. Shahmoradi A, Radyushkin K, Rossner MJ (22 June 2015). "Enhanced memory consolidation in mice lacking the circadian modulators Sharp1 and -2 caused by elevated Igf2 signaling in the cortex". Proc Natl Acad Sci U S A. 112: E3582–9. doi:10.1073/pnas.1423989112. PMID 26100875.
  9. He Y, Jones CR, Fujiki N, Xu Y, Guo B, Holder JL, Rossner MJ, Nishino S, Fu YH (August 2009). "The transcriptional repressor DEC2 regulates sleep length in mammals". Science. 325 (5942): 866–70. doi:10.1126/science.1174443. PMC 2884988Freely accessible. PMID 19679812.
  10. Pellegrino, R; Kavakli, I. H.; Goel, N; Cardinale, C. J.; Dinges, D. F.; Kuna, S. T.; Maislin, G; Van Dongen, H. P.; Tufik, S; Hogenesch, J. B.; Hakonarson, H; Pack, A. I. (2014). "A Novel BHLHE41 Variant is Associated with Short Sleep and Resistance to Sleep Deprivation in Humans". Sleep. 37 (8): 1327–36. doi:10.5665/sleep.3924. PMC 4096202Freely accessible. PMID 25083013.

Further reading

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


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