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

Gene ID: 56198, updated on 2-Nov-2024

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
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Genomic context

See Heyl in Genome Data Viewer
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_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10256 Neighboring gene hippocalcin-like 4 Neighboring gene 5'-nucleotidase, cytosolic IA Neighboring gene ribosomal protein L11 pseudogene Neighboring gene predicted gene, 50623

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

General gene information

Markers

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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 circulatory system development IBA
Inferred from Biological aspect of Ancestor
more info
 
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

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)

  1. NM_013905.3NP_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:115162
    ORANGE; Orange domain
    cd00083
    Location:44100
    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, ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    123127349..123143663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)