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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
  • 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 Periosteal Chondrosarcoma and Mesenchymal Chondrosarcoma. Among its related pathways are Signaling by NOTCH1 and Endometrial cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Regulatory Elements for HEY1 Gene

Enhancers for HEY1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H079826 1.2 Ensembl ENCODE 19.6 -60.8 -60832 5 HDGF PKNOX1 FOXA2 ARID4B RAD21 RARA YY1 ZSCAN5C FOS CREM HEY1 LOC101927040 RNU7-85P LINC01607 ENSG00000272264 ENSG00000251867
GH08H079852 1.2 Ensembl ENCODE 10.7 -85.7 -85680 2 HDAC1 TBL1XR1 BATF CHAMP1 TCF12 GATA2 ELK1 SCRT2 FOS ATF7 LOC101927040 RNU7-85P HEY1 LINC01607
GH08H079923 1.1 Ensembl ENCODE dbSUPER 10.4 -156.2 -156242 1 TEAD1 HLF GFI1B FOS FEZF1 MAFK RNU7-85P HEY1 GC08P079918 ENSG00000272518
GH08H080017 0.9 Ensembl dbSUPER 10.9 -249.6 -249638 0 TBL1XR1 JUNB ELF1 HDAC2 NBN MLLT1 ATF7 RUNX3 PRDM1 HEY1 MRPS28 ENSG00000272518
GH08H079818 0.9 ENCODE 10.7 -52.1 -52064 1 ELF3 PKNOX1 ATF1 MLX GATA2 ELK1 ATF7 CREM MIXL1 NFIL3 HEY1 LINC01607 RNU7-85P LOC101927040
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HEY1 on UCSC Golden Path with GeneCards custom track

Promoters for HEY1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000331906 -237 2201 PKNOX1 ARID4B SIN3A ZNF2 ZNF143 ZNF207 SP3 MXD4 NFYC JUNB

Genomic Location for HEY1 Gene

Chromosome:
8
Start:
79,764,010 bp from pter
End:
79,767,863 bp from pter
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:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific ISS --
GO:0000988 transcription factor activity, protein binding IDA 21290414
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 15485867
GO:0005515 protein binding IPI 10692439
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

CRISPR Products

miRNA for HEY1 Gene

miRTarBase miRNAs that target HEY1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HEY1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 IEA,ISS --
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 from RNA polymerase II promoter IMP 11486045
GO:0001525 angiogenesis IEP 11866539
GO:0003184 pulmonary valve morphogenesis ISS --
GO:0003190 atrioventricular valve formation ISS --
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation 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

Unigene Clusters for HEY1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HEY1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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(2.1)
genes like me logo Genes that share expression patterns with HEY1: view

Primer Products

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 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia HEY1 33 34
  • 91.78 (n)
mouse
(Mus musculus)
Mammalia Hey1 33 16 34
  • 90.64 (n)
dog
(Canis familiaris)
Mammalia HEY1 33 34
  • 90.57 (n)
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 33 34
  • 78.35 (n)
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 33 34
  • 66.78 (n)
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)

Paralogs for HEY1 Gene

Paralogs for HEY1 Gene

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

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 Sequence Context AA Info Type
rs1000005550 -- 79,768,775(+) GCGGA(A/T)TGGAA intron-variant, upstream-variant-2KB
rs1000072290 -- 79,765,897(+) CTTCC(C/G)AAAGT intron-variant
rs1001212971 -- 79,766,549(+) CCCAC(A/C)CCCAA intron-variant, upstream-variant-2KB
rs1002326210 -- 79,767,809(+) CCATC(C/T)TTTCC upstream-variant-2KB, utr-variant-5-prime
rs1002763821 -- 79,768,011(+) CCGCC(C/G)TCCGC upstream-variant-2KB

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)

Relevant External Links for HEY1 Gene

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

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
periosteal chondrosarcoma
  • juxtacortical chondrosarcoma
mesenchymal chondrosarcoma
  • chondrosarcoma mesenchymal
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

Relevant External Links for HEY1

Genetic Association Database (GAD)
HEY1
Human Genome Epidemiology (HuGE) Navigator
HEY1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEY1
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 60
  2. 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 60
  3. 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 60
  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 60
  5. HEY1 Leu94Met gene polymorphism dramatically modifies its biological functions. (PMID: 19802006) Villaronga MA … Belandia B (Oncogene 2010) 3 22 60

Products for HEY1 Gene

Sources for HEY1 Gene

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