HEYL

Hes-related family bHLH transcription factor with YRPW motif-like
Identifiers
Symbols	HEYL ; HESR3; HEY3; HRT3; bHLHb33
External IDs	OMIM: 609034 MGI: 1860511 HomoloGene: 8494 GeneCards: HEYL Gene
Gene ontology Molecular function • RNA polymerase II core promoter sequence-specific DNA binding • transcription factor activity, RNA polymerase II core promoter sequence-specific • transcription factor activity, protein binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • RNA polymerase II transcription corepressor activity • transcription factor activity, sequence-specific DNA binding • transcription corepressor activity • protein binding • transcription factor binding • microsatellite binding • protein homodimerization activity • protein heterodimerization activity • AF-1 domain binding Cellular component • nucleus • nucleoplasm • cytoplasm Biological process • outflow tract morphogenesis • atrioventricular valve morphogenesis • pulmonary valve morphogenesis • epithelial to mesenchymal transition involved in endocardial cushion formation • endocardial cushion morphogenesis • cardiac ventricle morphogenesis • transcription from RNA polymerase II promoter • Notch signaling pathway • mesenchymal cell development • glomerulus development • skeletal muscle cell differentiation • positive regulation of neuron differentiation • negative regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • cardiac epithelial to mesenchymal transition • ventricular septum morphogenesis • negative regulation of androgen receptor signaling pathway • cellular response to BMP stimulus • proximal tubule development • negative regulation of androgen receptor activity Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	26508	56198
Ensembl	ENSG00000163909	ENSMUSG00000032744
UniProt	Q9NQ87	Q9DBX7
RefSeq (mRNA)	NM_014571	NM_013905
RefSeq (protein)	NP_055386	NP_038933
Location (UCSC)	Chr 1: 39.62 – 39.64 Mb	Chr 4: 123.23 – 123.25 Mb
PubMed search

Hairy/enhancer-of-split related with YRPW motif-like protein is a protein that in humans is encoded by the HEYL gene.^[1][2][3]

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.^[3]

References

1. 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.
2. 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.
3. "Entrez Gene: HEYL hairy/enhancer-of-split related with YRPW motif-like".

Further reading

• Iso T, Kedes L, Hamamori Y (2003). "HES and HERP families: multiple effectors of the Notch signaling pathway.". J. Cell. Physiol. 194 (3): 237–55. doi:10.1002/jcp.10208. PMID 12548545.
• Kokubo H, Miyagawa-Tomita S, Johnson RL (2006). "Hesr, a mediator of the Notch signaling, functions in heart and vessel development.". Trends Cardiovasc. Med. 15 (5): 190–4. doi:10.1016/j.tcm.2005.05.005. PMID 16165016.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Firulli BA, Hadzic DB, McDaid JR, Firulli AB (2000). "The basic helix-loop-helix transcription factors dHAND and eHAND exhibit dimerization characteristics that suggest complex regulation of function.". J. Biol. Chem. 275 (43): 33567–73. doi:10.1074/jbc.M005888200. PMC 2561327. PMID 10924525.
• Nakagawa O, McFadden DG, Nakagawa M, et al. (2001). "Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling.". Proc. Natl. Acad. Sci. U.S.A. 97 (25): 13655–60. doi:10.1073/pnas.250485597. PMC 17631. PMID 11095750.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway.". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.

External links

• HEYL protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

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