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
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 123,233,556 bp[2] End 123,249,875 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • microsatellite binding • DNA binding • sequence-specific DNA binding • GO:0001106 transcription corepressor activity • protein dimerization activity • protein homodimerization activity • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • transcription factor binding • GO:0001948 protein binding • protein heterodimerization activity • AF-1 domain binding • RNA polymerase II core promoter sequence-specific DNA binding • GO:0000983 RNA polymerase II general transcription initiation factor activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • RNA polymerase II regulatory region sequence-specific DNA binding • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • sequence-specific double-stranded DNA binding Cellular component • nucleoplasm • cell nucleus • cytoplasm Biological process • regulation of transcription, DNA-templated • negative regulation of androgen receptor signaling pathway • cellular response to BMP stimulus • glomerulus development • transcription from RNA polymerase II promoter • 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 from RNA polymerase II promoter • positive regulation of neuron differentiation • positive regulation of transcription from RNA polymerase II promoter • 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 sequence-specific 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: 123.23 – 123.25 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]