HEYL

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; OMA:HEYL - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.2 Start 39,623,435 bp[1] End 39,639,643 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D2.2 Start 123,127,349 bp[2] End 123,143,668 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right coronary artery left coronary artery body of pancreas tibial arteries ascending aorta apex of heart right auricle Descending thoracic aorta right lung left ventricle Top expressed in ascending aorta vasculature of trunk external carotid artery aortic valve internal carotid artery pelvic ganglion spinal nerve urethra female urethra tunica media of zone of aorta More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microsatellite binding DNA binding sequence-specific DNA binding transcription corepressor activity protein dimerization activity protein homodimerization activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific transcription factor binding protein binding protein heterodimerization activity AF-1 domain binding RNA polymerase II core promoter sequence-specific DNA binding RNA polymerase II general transcription initiation factor activity DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific sequence-specific double-stranded DNA binding Cellular component nucleoplasm nucleus cytoplasm Biological process regulation of transcription, DNA-templated negative regulation of androgen receptor signaling pathway cellular response to BMP stimulus glomerulus development transcription by RNA polymerase II negative regulation of gene expression transcription, DNA-templated multicellular organism development proximal tubule development skeletal muscle cell differentiation Notch signaling pathway negative regulation of transcription by RNA polymerase II positive regulation of neuron differentiation positive regulation of transcription by RNA polymerase II outflow tract morphogenesis atrioventricular valve morphogenesis cardiac ventricle morphogenesis cardiac epithelial to mesenchymal transition mesenchymal cell development pulmonary valve morphogenesis epithelial to mesenchymal transition involved in endocardial cushion formation ventricular septum morphogenesis endocardial cushion morphogenesis negative regulation of transcription, DNA-templated positive regulation of transcription of Notch receptor target blood vessel development heart development cell differentiation regulation of neurogenesis negative regulation of DNA-binding transcription factor activity aortic valve morphogenesis Notch signaling involved in heart development anterior/posterior pattern specification circulatory system development Sources:Amigo / QuickGO
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: 123.13 – 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]

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]

References

1. GRCh38: Ensembl release 89: ENSG00000163909 – Ensembl, May 2017
2. 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. "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. S2CID 6463286.
• 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. Bibcode:2000PNAS...9713655N. 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

External links

• HEYL+protein,+human at the U.S. 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.