HEY1

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]

HEY1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DB7
Identifiers
Aliases	HEY1, BHLHb31, CHF2, HERP2, HESR1, HRT-1, OAF1, hHRT1, hes related family bHLH transcription factor with YRPW motif 1, NERP2
External IDs	OMIM: 602953; MGI: 1341800; HomoloGene: 7756; GeneCards: HEY1; OMA:HEY1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q21.13 Start 79,762,371 bp[1] End 79,767,857 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 A1|3 2.15 cM Start 8,728,419 bp[2] End 8,732,316 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 optic nerve middle temporal gyrus dorsal motor nucleus of vagus nerve spinal ganglia trigeminal ganglion internal globus pallidus visceral pleura mucosa of paranasal sinus Top expressed in pharyngeal groove molar ventricular zone aortic valve right lung lobe nasal epithelium olfactory epithelium renal corpuscle tail of embryo left lung More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microsatellite binding DNA binding protein dimerization activity DNA-binding transcription factor activity transcription factor binding RNA polymerase II general transcription initiation factor activity protein binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific transcription corepressor activity sequence-specific DNA binding sequence-specific double-stranded DNA binding Cellular component cytoplasm nucleoplasm nucleus Biological process dorsal aorta morphogenesis pulmonary valve morphogenesis negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation regulation of transcription, DNA-templated heart trabecula formation regulation of vasculogenesis cardiac septum morphogenesis ventricular septum morphogenesis labyrinthine layer blood vessel development negative regulation of transcription by RNA polymerase II transcription, DNA-templated endocardial cushion morphogenesis multicellular organism development atrioventricular valve formation arterial endothelial cell differentiation cellular response to glucocorticoid stimulus umbilical cord morphogenesis negative regulation of transcription regulatory region DNA binding angiogenesis negative regulation of transcription, DNA-templated cardiac ventricle morphogenesis positive regulation of transcription by RNA polymerase II negative regulation of Notch signaling pathway cardiac epithelial to mesenchymal transition Notch signaling involved in heart development Notch signaling pathway positive regulation of transcription, DNA-templated blood vessel development heart development cell differentiation regulation of neurogenesis positive regulation of gene expression negative regulation of biomineral tissue development anterior/posterior pattern specification negative regulation of neuron differentiation circulatory system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23462 15213 Ensembl ENSG00000164683 ENSMUSG00000040289 UniProt Q9Y5J3 Q9WV93 Q9QUM5 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 Mb Chr 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]