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Hey1 hairy/enhancer-of-split related with YRPW motif 1 [ Mus musculus (house mouse) ]

Gene ID: 15213, updated on 8-Feb-2024

Summary

Official Symbol
Hey1provided by MGI
Official Full Name
hairy/enhancer-of-split related with YRPW motif 1provided by MGI
Primary source
MGI:MGI:1341800
See related
Ensembl:ENSMUSG00000040289 AllianceGenome:MGI:1341800
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
CHF2; HRT1; Herp2; Hesr1; hesr-1; bHLHb31
Summary
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; identical protein binding activity; and sequence-specific DNA binding activity. Involved in several processes, including circulatory system development; regulation of gene expression; and umbilical cord morphogenesis. Acts upstream of or within several processes, including animal organ development; blood vessel development; and osteoblast development. Located in cytoplasm and nucleus. Is expressed in several structures, including cardiovascular system; central nervous system; genitourinary system; jaw; and sensory organ. Orthologous to human HEY1 (hes related family bHLH transcription factor with YRPW motif 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung adult (RPKM 42.5), CNS E11.5 (RPKM 13.9) and 15 other tissues See more
Orthologs
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Genomic context

See Hey1 in Genome Data Viewer
Location:
3 A1; 3 2.15 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (8728419..8732098, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (8663359..8667038, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 18822 Neighboring gene predicted gene, 32496 Neighboring gene STARR-seq mESC enhancer starr_06862 Neighboring gene predicted gene, 32561 Neighboring gene RIKEN cDNA C230057A21 gene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
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-specific DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables cis-regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in Notch signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in Notch signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in S-shaped body morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
acts_upstream_of_or_within anterior/posterior axis specification IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in aortic valve morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in arterial endothelial cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within artery development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in atrioventricular valve formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in atrioventricular valve morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within blood vessel development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within blood vessel endothelial cell differentiation 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 septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cardiac ventricle morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in circulatory system development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in comma-shaped body morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in dorsal aorta morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in endocardial cushion morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within endocardial cushion to mesenchymal transition involved in heart valve formation 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 
acts_upstream_of_or_within establishment of epithelial cell polarity IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within inner ear receptor cell stereocilium organization IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in labyrinthine layer blood vessel development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in mesenchymal cell development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
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 Notch signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of biomineral tissue development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of smooth muscle cell differentiation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within osteoblast development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in outflow tract morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within positive regulation of osteoblast differentiation IGI
Inferred from Genetic Interaction
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pulmonary valve morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of epithelial cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within regulation of inner ear auditory receptor cell differentiation 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
 
involved_in regulation of vasculogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in renal vesicle development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in umbilical cord morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in ureteric bud morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
acts_upstream_of_or_within vasculogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in ventricular septum morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within ventricular trabecula myocardium 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 IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
hairy/enhancer-of-split related with YRPW motif protein 1
Names
HRT-1
Hairy/E(spl)-related with YRPW motif 1
hairy and enhancer of split-related protein 1
hairy-related transcription factor 1
mHRT1

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_010423.2NP_034553.2  hairy/enhancer-of-split related with YRPW motif protein 1

    See identical proteins and their annotated locations for NP_034553.2

    Status: VALIDATED

    Source sequence(s)
    AF172286, AK140212
    Consensus CDS
    CCDS17232.1
    UniProtKB/Swiss-Prot
    Q9WV93
    UniProtKB/TrEMBL
    Q9D0R0, Q9QUM5
    Related
    ENSMUSP00000038014.4, ENSMUST00000042412.5
    Conserved Domains (2) summary
    smart00511
    Location:120166
    ORANGE; Orange domain
    cd00083
    Location:50107
    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_000069.7 Reference GRCm39 C57BL/6J

    Range
    8728419..8732098 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006530053.4XP_006530116.1  hairy/enhancer-of-split related with YRPW motif protein 1 isoform X1

    Conserved Domains (1) summary
    smart00511
    Location:147
    ORANGE; Orange domain