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

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: human all
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Genomic context

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

SUMOylation Fine-Tunes Endothelial HEY1 in the Regulation of Angiogenesis.
Title: SUMOylation Fine-Tunes Endothelial HEY1 in the Regulation of Angiogenesis.
HEY1-NCOA2 expression modulates chondrogenic differentiation and induces mesenchymal chondrosarcoma in mice.
Title: HEY1-NCOA2 expression modulates chondrogenic differentiation and induces mesenchymal chondrosarcoma in mice.
Babam2 negatively regulates osteoclastogenesis by interacting with Hey1 to inhibit Nfatc1 transcription.
Title: Babam2 negatively regulates osteoclastogenesis by interacting with Hey1 to inhibit Nfatc1 transcription.
Importance of endothelial Hey1 expression for thoracic great vessel development and its distal enhancer for Notch-dependent endothelial transcription.
Title: Importance of endothelial Hey1 expression for thoracic great vessel development and its distal enhancer for Notch-dependent endothelial transcription.
BMP9 prevents induction of osteopontin in JNK-inactivated osteoblasts via Hey1-Id4 interaction.
Title: BMP9 prevents induction of osteopontin in JNK-inactivated osteoblasts via Hey1-Id4 interaction.
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.
our findings suggested that CCN3 significantly inhibited the osteogenic differentiation of mouse embryonic fibroblasts. The inhibitory effect of CCN3 was mainly through the inhibition of BMP signaling and the mutual inhibition with DLL1, so as to inhibit the expression of Hey1, the target gene shared by BMP and Notch signaling pathways.
Title: CCN3 and DLL1 co-regulate osteogenic differentiation of mouse embryonic fibroblasts in a Hey1-dependent manner.
Data implied that Hey2 function is restricted to transient amplifying cells of the ameloblast cell lineage and that Hey1 plays a role in the composition of the subodontoblastic layer, in addition to ameloblast differentiation.
Title: Hey1 and Hey2 are differently expressed during mouse tooth development.
stable Hey1overexpressing cells expressed higher levels of dentin sialophosphoprotein (DSPP) and exhibited higher mineralization capabilities following stimulation by differentiation medium. Furthermore, RNA interferencemediated knockdown of Hey1 downregulated the expression levels of DSPP in OLCs stimulated by differentiation medium.
Title: Hey1 functions as a positive regulator of odontogenic differentiation in odontoblast‑lineage cells.
A Jagged1-Hey1 signal might mediate the impairment of angiogenesis induced by Ang II during cardiac hypertrophy.
Title: Role of Jagged1-Hey1 Signal in Angiotensin II-induced Impairment of Myocardial Angiogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Variation

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Alleles

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

Targeted (4) 1 citation
Endonuclease-mediated (1)

General gene information

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Markers

AI414254 (e-PCR)
- UniSTS:178800

Hey1 (e-PCR), detects polymorphism
- UniSTS:166552

Hey1 (e-PCR), detects polymorphism
- UniSTS:545946

RH136115 (e-PCR)
- UniSTS:210110

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

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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)

NM_010423.2 → NP_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:120 → 166

ORANGE; Orange domain

cd00083
Location:50 → 107

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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

8728419..8732098 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

smart00511
Location:1 → 47

ORANGE; Orange domain