Biology:HEY1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Hairy/enhancer-of-split related with YRPW motif protein 1 is a protein that in humans is encoded by the HEY1 gene.[1][2][3]
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.[3]
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.[4]
References
- ↑ "Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis". Mechanisms of Development 85 (1–2): 173–7. Jul 1999. doi:10.1016/S0925-4773(99)00080-5. PMID 10415358.
- ↑ "Identification and expression of a novel family of bHLH cDNAs related to Drosophila hairy and enhancer of split". Biochemical and Biophysical Research Communications 260 (2): 459–65. Jul 1999. doi:10.1006/bbrc.1999.0880. PMID 10403790.
- ↑ 3.0 3.1 "Entrez Gene: HEY1 hairy/enhancer-of-split related with YRPW motif 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23462.
- ↑ Soft tissue and bone tumours (5th ed.). Lyon (France): International Agency for Research on Cancer (IARC). 2020. ISBN 978-92-832-4502-5.
Further reading
- "HES and HERP families: multiple effectors of the Notch signaling pathway". Journal of Cellular Physiology 194 (3): 237–55. Mar 2003. doi:10.1002/jcp.10208. PMID 12548545.
- "Hesr, a mediator of the Notch signaling, functions in heart and vessel development". Trends in Cardiovascular Medicine 15 (5): 190–4. Jul 2005. doi:10.1016/j.tcm.2005.05.005. PMID 16165016.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. Jan 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. Oct 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Cardiovascular basic helix loop helix factor 1, a novel transcriptional repressor expressed preferentially in the developing and adult cardiovascular system". The Journal of Biological Chemistry 275 (9): 6381–7. Mar 2000. doi:10.1074/jbc.275.9.6381. PMID 10692439.
- "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. Jun 2000. doi:10.1006/geno.2000.6200. PMID 10860664.
- "Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes". Biochemical and Biophysical Research Communications 275 (2): 652–60. Aug 2000. doi:10.1006/bbrc.2000.3354. PMID 10964718.
- "Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling". Proceedings of the National Academy of Sciences of the United States of America 97 (25): 13655–60. Dec 2000. doi:10.1073/pnas.250485597. PMID 11095750. Bibcode: 2000PNAS...9713655N.
- "Regulation of myogenic terminal differentiation by the hairy-related transcription factor CHF2". The Journal of Biological Chemistry 276 (21): 18591–6. May 2001. doi:10.1074/jbc.M101163200. PMID 11279181.
- "HERP, a new primary target of Notch regulated by ligand binding". Molecular and Cellular Biology 21 (17): 6071–9. Sep 2001. doi:10.1128/MCB.21.17.6071-6079.2001. PMID 11486044.
- "Notch activation during endothelial cell network formation in vitro targets the basic HLH transcription factor HESR-1 and downregulates VEGFR-2/KDR expression". Microvascular Research 64 (3): 372–83. Nov 2002. doi:10.1006/mvre.2002.2443. PMID 12453432.
- "Jun blockade of erythropoiesis: role for repression of GATA-1 by HERP2". Molecular and Cellular Biology 24 (17): 7779–94. Sep 2004. doi:10.1128/MCB.24.17.7779-7794.2004. PMID 15314183.
- "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research 14 (9): 1711–8. Sep 2004. doi:10.1101/gr.2435604. PMID 15342556.
- "Mouse hesr1 and hesr2 genes are redundantly required to mediate Notch signaling in the developing cardiovascular system". Developmental Biology 278 (2): 301–9. Feb 2005. doi:10.1016/j.ydbio.2004.10.025. PMID 15680351.
External links
- HEY1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- FactorBook HEY1
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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