HEY1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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]

PDBOrtholog search: PDBe RCSB
AliasesHEY1, BHLHb31, CHF2, HERP2, HESR1, HRT-1, OAF1, hHRT1, hes related family bHLH transcription factor with YRPW motif 1, NERP2
Quick facts Available structures, PDB ...
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
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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.[7]

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.[8]

References

Further reading

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