HEYL

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

HEYL
Identifiers
Aliases	HEYL, HESR3, HEY3, HRT3, bHLHb33, hes related family bHLH transcription factor with YRPW motif-like, hes related family bHLH transcription factor with YRPW motif like
External IDs	OMIM: 609034; MGI: 1860511; HomoloGene: 8494; GeneCards: HEYL; OMA:HEYL - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.2 Start 39,623,435 bp[1] End 39,639,643 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D2.2 Start 123,127,349 bp[2] End 123,143,668 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right coronary artery left coronary artery body of pancreas tibial arteries ascending aorta apex of heart right auricle of heart Descending thoracic aorta right lung left ventricle Top expressed in ascending aorta vasculature of trunk external carotid artery aortic valve internal carotid artery pelvic ganglion spinal nerve urethra female urethra tunica media of zone of aorta More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microsatellite binding DNA binding sequence-specific DNA binding transcription corepressor activity protein dimerization activity protein homodimerization activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific transcription factor binding protein binding protein heterodimerization activity AF-1 domain binding RNA polymerase II core promoter sequence-specific DNA binding RNA polymerase II general transcription initiation factor activity DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific sequence-specific double-stranded DNA binding Cellular component nucleoplasm nucleus cytoplasm Biological process regulation of transcription, DNA-templated negative regulation of androgen receptor signaling pathway cellular response to BMP stimulus glomerulus development transcription by RNA polymerase II negative regulation of gene expression transcription, DNA-templated multicellular organism development proximal tubule development skeletal muscle cell differentiation Notch signaling pathway negative regulation of transcription by RNA polymerase II positive regulation of neuron differentiation positive regulation of transcription by RNA polymerase II outflow tract morphogenesis atrioventricular valve morphogenesis cardiac ventricle morphogenesis cardiac epithelial to mesenchymal transition mesenchymal cell development pulmonary valve morphogenesis epithelial to mesenchymal transition involved in endocardial cushion formation ventricular septum morphogenesis endocardial cushion morphogenesis negative regulation of transcription, DNA-templated positive regulation of transcription of Notch receptor target blood vessel development heart development cell differentiation regulation of neurogenesis negative regulation of DNA-binding transcription factor activity aortic valve morphogenesis Notch signaling involved in heart development anterior/posterior pattern specification circulatory system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26508 56198 Ensembl ENSG00000163909 ENSMUSG00000032744 UniProt Q9NQ87 Q9DBX7 RefSeq (mRNA) NM_014571 NM_013905 RefSeq (protein) NP_055386 NP_038933 Location (UCSC) Chr 1: 39.62 – 39.64 Mb Chr 4: 123.13 – 123.14 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.^[7]