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HEY1 hes related family bHLH transcription factor with YRPW motif 1 [ Homo sapiens (human) ]

Gene ID: 23462, updated on 27-Nov-2022

Summary

Official Symbol
HEY1provided by HGNC
Official Full Name
hes related family bHLH transcription factor with YRPW motif 1provided by HGNC
Primary source
HGNC:HGNC:4880
See related
Ensembl:ENSG00000164683 MIM:602953; AllianceGenome:HGNC:4880
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CHF2; OAF1; HERP2; HESR1; HRT-1; NERP2; hHRT1; BHLHb31
Summary
This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 32.0), lung (RPKM 10.8) and 9 other tissues See more
Orthologs
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Genomic context

See HEY1 in Genome Data Viewer
Location:
8q21.13
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (79764010..79767767, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (80195346..80199104, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (80676245..80680002, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901965 Neighboring gene uncharacterized LOC107986893 Neighboring gene uncharacterized LOC101927040 Neighboring gene long intergenic non-protein coding RNA 1607 Neighboring gene U7 small nuclear RNA Neighboring gene RNA, U7 small nuclear 85 pseudogene Neighboring gene Sharpr-MPRA regulatory region 4298

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1274

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Notch signaling involved in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in angiogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in aortic valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in arterial endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrioventricular valve formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac conduction system development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in circulatory system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in dorsal aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart trabecula formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in labyrinthine layer blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of biomineral tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pulmonary valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of vasculogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in umbilical cord morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventricular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
hairy/enhancer-of-split related with YRPW motif protein 1
Names
HES-related repressor protein 1
HES-related repressor protein 2
basic helix-loop-helix protein OAF1
cardiovascular helix-loop-helix factor 2
class B basic helix-loop-helix protein 31
hairy and enhancer of split-related protein 1
hairy-related transcription factor 1
hairy/enhancer-of-split related with YRPW motif 1

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_001040708.2NP_001035798.1  hairy/enhancer-of-split related with YRPW motif protein 1 isoform b

    See identical proteins and their annotated locations for NP_001035798.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as HESR1-12nt, uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in a longer protein (isoform b).
    Source sequence(s)
    AF232239, BC001873, BP283540
    Consensus CDS
    CCDS43749.1
    UniProtKB/Swiss-Prot
    Q9Y5J3
    Related
    ENSP00000338272.5, ENST00000337919.9
    Conserved Domains (2) summary
    smart00511
    Location:124170
    ORANGE; Orange domain
    cl00081
    Location:41126
    bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
  2. NM_001282851.2NP_001269780.1  hairy/enhancer-of-split related with YRPW motif protein 1 isoform c

    See identical proteins and their annotated locations for NP_001269780.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' structure which results in the use of a downstream start codon compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AF151522, AK293646, R61374
    UniProtKB/Swiss-Prot
    Q9Y5J3
    UniProtKB/TrEMBL
    B4DEI9
    Related
    ENST00000435063.4
    Conserved Domains (1) summary
    smart00511
    Location:3076
    ORANGE; Orange domain
  3. NM_012258.4NP_036390.3  hairy/enhancer-of-split related with YRPW motif protein 1 isoform a

    See identical proteins and their annotated locations for NP_036390.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the predominant isoform (a).
    Source sequence(s)
    AF232239, BC001873, DA561783
    Consensus CDS
    CCDS6225.1
    UniProtKB/Swiss-Prot
    Q9NYP4, Q9Y5J3
    Related
    ENSP00000346761.3, ENST00000354724.8
    Conserved Domains (2) summary
    smart00511
    Location:120166
    ORANGE; Orange domain
    cl00081
    Location:41122
    bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    79764010..79767767 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    80195346..80199104 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)