Heyl hairy/enhancer-of-split related with YRPW motif-like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Heylprovided by MGI
Official Full Name: hairy/enhancer-of-split related with YRPW motif-likeprovided by MGI
Primary source: MGI:MGI:1860511
See related: Ensembl:ENSMUSG00000032744 AllianceGenome:MGI:1860511
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hey3; Hrt3; hesr3; bHLHb33
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in several processes, including heart development; nephron development; and regulation of transcription by RNA polymerase II. Acts upstream of or within epithelial to mesenchymal transition involved in endocardial cushion formation; negative regulation of gene expression; and skeletal muscle cell differentiation. Located in cytoplasm. Is expressed in several structures, including cardiovascular system; embryo mesenchyme; inner ear; nervous system; and urinary system. Orthologous to human HEYL (hes related family bHLH transcription factor with YRPW motif like). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in ovary adult (RPKM 12.0), lung adult (RPKM 7.5) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.2; 4 57.41 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (123127349..123143663)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (123233556..123249870)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Notch3 regulates Mybl2 via HeyL to limit proliferation and tumor initiation in breast cancer.
Title: Notch3 regulates Mybl2 via HeyL to limit proliferation and tumor initiation in breast cancer.
Implication of satellite cell behaviors in capillary growth via VEGF expression-independent mechanism in response to mechanical loading in HeyL-null mice.
Title: Implication of satellite cell behaviors in capillary growth via VEGF expression-independent mechanism in response to mechanical loading in HeyL-null mice.
These results show that sustained HeyL expression is critical for muscle satellite cell proliferation specifically in overloaded muscle, and thus indicate that the muscle satellite cell-proliferation mechanism differs in overloaded and regenerating muscle.
Title: Sustained expression of HeyL is critical for the proliferation of muscle stem cells in overloaded muscle.
HeyL and Hey1 function redundantly in muscle stem cells, and HeyL requires Hes1 for effective DNA binding and biological activity
Title: Cell-autonomous and redundant roles of Hey1 and HeyL in muscle stem cells: HeyL requires Hes1 to bind diverse DNA sites.
HeyL null mice do not exhibit an obvious skeletal phenotype demonstrating that HeyL is dispensable for skeletal homeostasis.
Title: Hairy and Enhancer of Split-Related With YRPW Motif-Like (HeyL) Is Dispensable for Bone Remodeling in Mice.
repression of TGFbeta signaling by Notch acting through HEYL may promote initiation of breast cancer
Title: The Notch pathway inhibits TGFβ signaling in breast cancer through HEYL-mediated crosstalk.
These results indicate that Hesr1 and Hesr3 are essential for the generation of adult satellite cells and for the maintenance of skeletal muscle homeostasis.
Title: Hesr1 and Hesr3 are essential to generate undifferentiated quiescent satellite cells and to maintain satellite cell numbers.
This study demonistrated that HeyL promotes neuronal differentiation of neural progenitor cells by activating proneural genes and by inhibiting the actions of other Hes and Hey family members.
Title: HeyL promotes neuronal differentiation of neural progenitor cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation

General gene information

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Markers

Heyl (e-PCR), detects polymorphism
- UniSTS:526858

D4Mit11 (e-PCR), detects polymorphism
- UniSTS:129884

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables AF-1 domain binding	IEA Inferred from Electronic Annotation more info
enables AF-1 domain binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in Notch signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in atrioventricular valve morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cardiac epithelial to mesenchymal transition	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cardiac ventricle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to BMP stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in endocardial cushion morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within epithelial to mesenchymal transition involved in endocardial cushion formation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in glomerulus development	IEP Inferred from Expression Pattern more info	PubMed
involved_in mesenchymal cell development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of androgen receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of androgen receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in outflow tract morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in peripheral nervous system development	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in proximal tubule development	IEP Inferred from Expression Pattern more info	PubMed
involved_in pulmonary valve morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within skeletal muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular septum morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: hairy/enhancer-of-split related with YRPW motif-like protein

Names: HRT-3; hairy and enhance of split related 3; hairy and enhancer of split-related protein 3; hairy-related transcription factor 3; mHRT3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_013905.3 → NP_038933.2 hairy/enhancer-of-split related with YRPW motif-like protein

See identical proteins and their annotated locations for NP_038933.2

Status: VALIDATED

Source sequence(s)

AF172288, AK004697, AL606934

Consensus CDS

CCDS18613.1

UniProtKB/Swiss-Prot

Q9DBX7, Q9JJV6, Q9QXW8

Related

ENSMUSP00000040576.5, ENSMUST00000040821.5

Conserved Domains (2) summary

smart00511
Location:115 → 162

ORANGE; Orange domain

cd00083
Location:44 → 100

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...