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HEY1

From Wikipedia, the free encyclopedia
HEY1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHEY1, BHLHb31, CHF2, HERP2, HESR1, HRT-1, OAF1, hHRT1, hes related family bHLH transcription factor with YRPW motif 1, NERP2
External IDsOMIM: 602953; MGI: 1341800; HomoloGene: 7756; GeneCards: HEY1; OMA:HEY1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012258
NM_001040708
NM_001282851

NM_010423

RefSeq (protein)

NP_001035798
NP_001269780
NP_036390

NP_034553

Location (UCSC)Chr 8: 79.76 – 79.77 MbChr 3: 8.73 – 8.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hairy/enhancer-of-split related with YRPW motif protein 1 is a protein that in humans is encoded by the HEY1 gene.[5][6][7]

Function

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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.[7]

Role in disease

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HEY1::NCOA2 fusion which may arise via a small deletion del(8)(q13.3q21.1) is highly specific for the diagnosis of mesenchymal chondrosarcoma.[8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164683Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040289Ensembl, 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 (Jul 1999). "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. doi:10.1016/S0925-4773(99)00080-5. PMID 10415358. S2CID 17342136.
  6. ^ Kokubo H, Lun Y, Johnson RL (Jul 1999). "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. doi:10.1006/bbrc.1999.0880. PMID 10403790.
  7. ^ a b "Entrez Gene: HEY1 hairy/enhancer-of-split related with YRPW motif 1".
  8. ^ 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

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