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

Gene ID: 23462, updated on 24-Nov-2020

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
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

Genomic context

See HEY1 in Genome Data Viewer
Location:
8q21.13
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (79764010..79767767, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (80676245..80680098, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375916 Neighboring gene stathmin 2 Neighboring gene uncharacterized LOC107986893 Neighboring gene uncharacterized LOC101927040 Neighboring gene long intergenic non-protein coding RNA 1607 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
Notch signaling involved in heart development IC
Inferred by Curator
more info
PubMed 
Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
angiogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
arterial endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
atrioventricular valve formation ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
circulatory system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dorsal aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
heart trabecula formation ISS
Inferred from Sequence or Structural Similarity
more info
 
labyrinthine layer blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of biomineral tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
 
pulmonary valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of vasculogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
umbilical cord morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
chromatin ISA
Inferred from Sequence Alignment
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    ENSP00000429792.1, ENST00000523976.1
    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
    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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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