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Aliases for HEY1 Gene

Aliases for HEY1 Gene

  • Hes Related Family BHLH Transcription Factor With YRPW Motif 1 2 3 5
  • Hairy/Enhancer-Of-Split Related With YRPW Motif 1 2 3
  • Hairy And Enhancer Of Split-Related Protein 1 3 4
  • Class B Basic Helix-Loop-Helix Protein 31 3 4
  • Cardiovascular Helix-Loop-Helix Factor 2 3 4
  • Hairy-Related Transcription Factor 1 3 4
  • HES-Related Repressor Protein 1 3 4
  • BHLHb31 3 4
  • HERP2 3 4
  • HESR1 3 4
  • HRT-1 3 4
  • HHRT1 3 4
  • CHF2 3 4
  • Hes-Related Family BHLH Transcription Factor With YRPW Motif 1 2
  • Hairy/Enhancer-Of-Split Related With YRPW Motif Protein 1 3
  • Basic Helix-Loop-Helix Protein OAF1 3
  • HES-Related Repressor Protein 2 3
  • BHLHB31 4
  • HESR-1 4
  • CHF-2 4
  • OAF1 3
  • HRT1 4

External Ids for HEY1 Gene

Previous GeneCards Identifiers for HEY1 Gene

  • GC08M079562
  • GC08M080724
  • GC08M080399
  • GC08M080726
  • GC08M080838
  • GC08M080676
  • GC08M076165

Summaries for HEY1 Gene

Entrez Gene Summary for HEY1 Gene

  • 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]

GeneCards Summary for HEY1 Gene

HEY1 (Hes Related Family BHLH Transcription Factor With YRPW Motif 1) is a Protein Coding gene. Diseases associated with HEY1 include Mesenchymal Chondrosarcoma and Periosteal Chondrosarcoma. Among its related pathways are Canonical and Non-canonical Notch signaling and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is HEY2.

UniProtKB/Swiss-Prot for HEY1 Gene

  • Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGTG-3 (PubMed:11095750). Downstream effector of Notch signaling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY2 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3 (PubMed:15485867). Involved in the regulation of liver cancer cells self-renewal (PubMed:25985737).

Gene Wiki entry for HEY1 Gene

Additional gene information for HEY1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEY1 Gene

Genomics for HEY1 Gene

GeneHancer (GH) Regulatory Elements for HEY1 Gene

Promoters and enhancers for HEY1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J079766 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 653.6 -0.6 -564 3.9 PKNOX1 SMAD1 ARID4B SIN3A ZNF2 YY1 ZNF143 ZNF207 FOS SP3 HEY1 LINC01607 MRPS28 RNU7-85P LOC101927040 GC08M079801
GH08J079792 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE 651.9 -26.5 -26516 3 ATF1 FOXA2 ARNT ZNF133 NCOA2 TCF12 ATF7 FOS DEK NCOA1 HEY1 LOC101927040 LINC01607 GC08M079801
GH08J079826 Enhancer 1.1 Ensembl ENCODE 19.6 -60.8 -60831 5.1 HDGF PKNOX1 FOXA2 ARID4B RAD21 RARA YY1 EGR1 ZSCAN5C FOS HEY1 LOC101927040 RNU7-85P LINC01607 ENSG00000272264 ENSG00000251867
GH08J079852 Enhancer 1.1 Ensembl ENCODE 10.7 -85.7 -85679 2.4 TCF12 GATA2 FOS ATF7 CAVIN1 NCOA1 ZNF592 MEF2D GMEB1 ZNF184 LOC101927040 RNU7-85P HEY1 LINC01607
GH08J079923 Enhancer 0.9 Ensembl ENCODE dbSUPER 10.4 -156.2 -156242 1.8 TEAD1 HLF GFI1B FOS FEZF1 RNU7-85P HEY1 GC08P079918 ENSG00000272518 MRPS28 ENSG00000276418
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEY1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEY1 gene promoter:
  • AP-1
  • p53
  • c-Jun
  • ATF-2
  • GATA-1
  • c-Myc
  • Evi-1
  • C/EBPalpha
  • Max

Genomic Locations for HEY1 Gene

Genomic Locations for HEY1 Gene
chr8:79,764,010-79,767,863
(GRCh38/hg38)
Size:
3,854 bases
Orientation:
Minus strand
chr8:80,676,245-80,680,098
(GRCh37/hg19)
Size:
3,854 bases
Orientation:
Minus strand

Genomic View for HEY1 Gene

Genes around HEY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEY1 Gene

Proteins for HEY1 Gene

  • Protein details for HEY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5J3-HEY1_HUMAN
    Recommended name:
    Hairy/enhancer-of-split related with YRPW motif protein 1
    Protein Accession:
    Q9Y5J3
    Secondary Accessions:
    • B2R883
    • Q5TZS3
    • Q8NAM2
    • Q9NYP4

    Protein attributes for HEY1 Gene

    Size:
    304 amino acids
    Molecular mass:
    32613 Da
    Quaternary structure:
    • Self-associates. Interacts with HES1 and HEYL. Interacts with HDAC1, NCOR1 and SIN3A. Interacts with GATA4 and GATA6. Interacts with CCDC89/BOIP.

    Three dimensional structures from OCA and Proteopedia for HEY1 Gene

    Alternative splice isoforms for HEY1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEY1 Gene

Post-translational modifications for HEY1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HEY1 Gene

No data available for DME Specific Peptides for HEY1 Gene

Domains & Families for HEY1 Gene

Gene Families for HEY1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HEY1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5J3

UniProtKB/Swiss-Prot:

HEY1_HUMAN :
  • Belongs to the HEY family.
Family:
  • Belongs to the HEY family.
genes like me logo Genes that share domains with HEY1: view

Function for HEY1 Gene

Molecular function for HEY1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGTG-3 (PubMed:11095750). Downstream effector of Notch signaling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY2 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3 (PubMed:15485867). Involved in the regulation of liver cancer cells self-renewal (PubMed:25985737).

Gene Ontology (GO) - Molecular Function for HEY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding ISS --
GO:0000989 transcription factor activity, transcription factor binding IDA 21290414
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IDA 15485867
genes like me logo Genes that share ontologies with HEY1: view
genes like me logo Genes that share phenotypes with HEY1: view

Animal Models for HEY1 Gene

MGI Knock Outs for HEY1:

Animal Model Products

miRNA for HEY1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HEY1 Gene

Localization for HEY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEY1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HEY1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HEY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with HEY1: view

Pathways & Interactions for HEY1 Gene

genes like me logo Genes that share pathways with HEY1: view

SIGNOR curated interactions for HEY1 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for HEY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 11486045
GO:0001525 angiogenesis IEP 11866539
GO:0003184 pulmonary valve morphogenesis ISS --
GO:0003190 atrioventricular valve formation ISS --
GO:0003203 endocardial cushion morphogenesis ISS --
genes like me logo Genes that share ontologies with HEY1: view

Drugs & Compounds for HEY1 Gene

No Compound Related Data Available

Transcripts for HEY1 Gene

mRNA/cDNA for HEY1 Gene

Unigene Clusters for HEY1 Gene

Hairy/enhancer-of-split related with YRPW motif 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HEY1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: -
SP5:

Relevant External Links for HEY1 Gene

GeneLoc Exon Structure for
HEY1
ECgene alternative splicing isoforms for
HEY1

Expression for HEY1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEY1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HEY1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HEY1 Gene



NURSA nuclear receptor signaling pathways regulating expression of HEY1 Gene:

HEY1

SOURCE GeneReport for Unigene cluster for HEY1 Gene:

Hs.234434

mRNA Expression by UniProt/SwissProt for HEY1 Gene:

Q9Y5J3-HEY1_HUMAN
Tissue specificity: Expressed in the somitic mesoderm, the central nervous system, the kidney, the heart, nasal epithelium, and limbs.

Evidence on tissue expression from TISSUES for HEY1 Gene

  • Nervous system(4.9)
  • Lung(4.4)
  • Heart(2.4)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with HEY1: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEY1 Gene

Orthologs for HEY1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HEY1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEY1 34 33
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HEY1 34 33
  • 91.78 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hey1 16 34 33
  • 90.64 (n)
dog
(Canis familiaris)
Mammalia HEY1 34 33
  • 90.57 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hey1 33
  • 86.53 (n)
oppossum
(Monodelphis domestica)
Mammalia HEY1 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEY1 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEY1 34 33
  • 78.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEY1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hey1 33
  • 75.47 (n)
Str.11458 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.469 33
zebrafish
(Danio rerio)
Actinopterygii hey1 34 33
  • 66.78 (n)
OneToOne
Dr.19915 33
fruit fly
(Drosophila melanogaster)
Insecta Hey 34 35
  • 28 (a)
OneToMany
Species where no ortholog for HEY1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HEY1 Gene

ENSEMBL:
Gene Tree for HEY1 (if available)
TreeFam:
Gene Tree for HEY1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HEY1: view image

Paralogs for HEY1 Gene

Paralogs for HEY1 Gene

(3) SIMAP similar genes for HEY1 Gene using alignment to 3 proteins:

  • HEY1_HUMAN
  • B4DEI9_HUMAN
  • E5RHK6_HUMAN
genes like me logo Genes that share paralogs with HEY1: view

Variants for HEY1 Gene

Sequence variations from dbSNP and Humsavar for HEY1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000005550 -- 79,768,775(-) A/T upstream_transcript_variant
rs1000072290 -- 79,765,897(-) G/C intron_variant
rs1001212971 -- 79,766,549(-) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1002326210 -- 79,767,809(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1002763821 -- 79,768,011(-) C/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HEY1 Gene

Variant ID Type Subtype PubMed ID
dgv7245n100 CNV gain 25217958

Variation tolerance for HEY1 Gene

Residual Variation Intolerance Score: 47.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEY1 Gene

Human Gene Mutation Database (HGMD)
HEY1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEY1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEY1 Gene

Disorders for HEY1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HEY1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mesenchymal chondrosarcoma
  • chondrosarcoma mesenchymal
periosteal chondrosarcoma
  • juxtacortical chondrosarcoma
meninges hemangiopericytoma
  • hemangiopericytoma of meninges
non-suppurative otitis media
  • nonsuppurative otitis media
- elite association - COSMIC cancer census association via MalaCards
Search HEY1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HEY1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HEY1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HEY1 Gene

Publications for HEY1 Gene

  1. Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family. (PMID: 10860664) Steidl C … Gessler M (Genomics 2000) 3 4 22 58
  2. Identification and expression of a novel family of bHLH cDNAs related to Drosophila hairy and enhancer of split. (PMID: 10403790) Kokubo H … Johnson RL (Biochemical and biophysical research communications 1999) 2 3 4 58
  3. Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis. (PMID: 10415358) Leimeister C … Gessler M (Mechanisms of development 1999) 2 3 4 58
  4. C8orf4 negatively regulates self-renewal of liver cancer stem cells via suppression of NOTCH2 signalling. (PMID: 25985737) Zhu P … Fan Z (Nature communications 2015) 3 4 58
  5. HEY1 Leu94Met gene polymorphism dramatically modifies its biological functions. (PMID: 19802006) Villaronga MA … Belandia B (Oncogene 2010) 3 22 58

Products for HEY1 Gene

Sources for HEY1 Gene

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