HEY1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Hairy/enhancer-of-split related with YRPW motif protein 1 is a protein that in humans is encoded by the HEY1 gene.{{cite journal | vauthors = Leimeister C, Externbrink A, Klamt B, Gessler M | title = Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis | journal = Mechanisms of Development | volume = 85 | issue = 1–2 | pages = 173–7 | date = Jul 1999 | pmid = 10415358 | doi = 10.1016/S0925-4773(99)00080-5 | s2cid = 17342136 | doi-access = free }}{{cite journal | vauthors = Kokubo H, Lun Y, Johnson RL | title = Identification and expression of a novel family of bHLH cDNAs related to Drosophila hairy and enhancer of split | journal = Biochemical and Biophysical Research Communications | volume = 260 | issue = 2 | pages = 459–65 | date = Jul 1999 | pmid = 10403790 | doi = 10.1006/bbrc.1999.0880 }}{{cite web | title = Entrez Gene: HEY1 hairy/enhancer-of-split related with YRPW motif 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23462}}

Function

This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants.

Role in disease

HEY1::NCOA2 fusion which may arise via a small deletion del(8)(q13.3q21.1) is highly specific for the diagnosis of mesenchymal chondrosarcoma.{{Cite book |title=Soft tissue and bone tumours |publisher=International Agency for Research on Cancer (IARC) |year=2020 |isbn=978-92-832-4502-5 |edition=5th |location=Lyon (France)}}

References

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Further reading

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  • {{cite journal | vauthors = Iso T, Kedes L, Hamamori Y | title = HES and HERP families: multiple effectors of the Notch signaling pathway | journal = Journal of Cellular Physiology | volume = 194 | issue = 3 | pages = 237–55 | date = Mar 2003 | pmid = 12548545 | doi = 10.1002/jcp.10208 | s2cid = 6463286 | doi-access = free }}
  • {{cite journal | vauthors = Kokubo H, Miyagawa-Tomita S, Johnson RL | title = Hesr, a mediator of the Notch signaling, functions in heart and vessel development | journal = Trends in Cardiovascular Medicine | volume = 15 | issue = 5 | pages = 190–4 | date = Jul 2005 | pmid = 16165016 | doi = 10.1016/j.tcm.2005.05.005 }}
  • {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
  • {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
  • {{cite journal | vauthors = Chin MT, Maemura K, Fukumoto S, Jain MK, Layne MD, Watanabe M, Hsieh CM, Lee ME | title = Cardiovascular basic helix loop helix factor 1, a novel transcriptional repressor expressed preferentially in the developing and adult cardiovascular system | journal = The Journal of Biological Chemistry | volume = 275 | issue = 9 | pages = 6381–7 | date = Mar 2000 | pmid = 10692439 | doi = 10.1074/jbc.275.9.6381 | doi-access = free }}
  • {{cite journal | vauthors = Steidl C, Leimeister C, Klamt B, Maier M, Nanda I, Dixon M, Clarke R, Schmid M, Gessler M | title = Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family | journal = Genomics | volume = 66 | issue = 2 | pages = 195–203 | date = Jun 2000 | pmid = 10860664 | doi = 10.1006/geno.2000.6200 }}
  • {{cite journal | vauthors = Maier MM, Gessler M | title = Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes | journal = Biochemical and Biophysical Research Communications | volume = 275 | issue = 2 | pages = 652–60 | date = Aug 2000 | pmid = 10964718 | doi = 10.1006/bbrc.2000.3354 }}
  • {{cite journal | vauthors = Nakagawa O, McFadden DG, Nakagawa M, Yanagisawa H, Hu T, Srivastava D, Olson EN | title = Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 25 | pages = 13655–60 | date = Dec 2000 | pmid = 11095750 | pmc = 17631 | doi = 10.1073/pnas.250485597 | bibcode = 2000PNAS...9713655N | doi-access = free }}
  • {{cite journal | vauthors = Sun J, Kamei CN, Layne MD, Jain MK, Liao JK, Lee ME, Chin MT | title = Regulation of myogenic terminal differentiation by the hairy-related transcription factor CHF2 | journal = The Journal of Biological Chemistry | volume = 276 | issue = 21 | pages = 18591–6 | date = May 2001 | pmid = 11279181 | doi = 10.1074/jbc.M101163200 | doi-access = free }}
  • {{cite journal | vauthors = Iso T, Sartorelli V, Chung G, Shichinohe T, Kedes L, Hamamori Y | title = HERP, a new primary target of Notch regulated by ligand binding | journal = Molecular and Cellular Biology | volume = 21 | issue = 17 | pages = 6071–9 | date = Sep 2001 | pmid = 11486044 | pmc = 87324 | doi = 10.1128/MCB.21.17.6071-6079.2001 }}
  • {{cite journal | vauthors = Taylor KL, Henderson AM, Hughes CC | title = Notch activation during endothelial cell network formation in vitro targets the basic HLH transcription factor HESR-1 and downregulates VEGFR-2/KDR expression | journal = Microvascular Research | volume = 64 | issue = 3 | pages = 372–83 | date = Nov 2002 | pmid = 12453432 | doi = 10.1006/mvre.2002.2443 }}
  • {{cite journal | vauthors = Elagib KE, Xiao M, Hussaini IM, Delehanty LL, Palmer LA, Racke FK, Birrer MJ, Ganapathy-Kanniappan S, Shanmugasundaram G, McDevitt MA, Goldfarb AN | title = Jun blockade of erythropoiesis: role for repression of GATA-1 by HERP2 | journal = Molecular and Cellular Biology | volume = 24 | issue = 17 | pages = 7779–94 | date = Sep 2004 | pmid = 15314183 | pmc = 506977 | doi = 10.1128/MCB.24.17.7779-7794.2004 }}
  • {{cite journal | vauthors = Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S | title = Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions | journal = Genome Research | volume = 14 | issue = 9 | pages = 1711–8 | date = Sep 2004 | pmid = 15342556 | pmc = 515316 | doi = 10.1101/gr.2435604 }}
  • {{cite journal | vauthors = Kokubo H, Miyagawa-Tomita S, Nakazawa M, Saga Y, Johnson RL | title = Mouse hesr1 and hesr2 genes are redundantly required to mediate Notch signaling in the developing cardiovascular system | journal = Developmental Biology | volume = 278 | issue = 2 | pages = 301–9 | date = Feb 2005 | pmid = 15680351 | doi = 10.1016/j.ydbio.2004.10.025 | doi-access = free }}

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