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Aliases for HEY1 Gene

Aliases for HEY1 Gene

  • Hes-Related Family BHLH Transcription Factor With YRPW Motif 1 2 3
  • 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
  • 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 mesenchymal chondrosarcoma. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein dimerization activity. An important paralog of this gene is HEYL.

UniProtKB/Swiss-Prot for HEY1 Gene

  • Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGTG-3. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.

Gene Wiki entry for HEY1 Gene

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

Genomics for HEY1 Gene

Regulatory Elements for HEY1 Gene

Genomic Location for HEY1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for HEY1 Gene at MOPED

Post-translational modifications for HEY1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HEY1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HEY1 Gene

Domains for HEY1 Gene

Gene Families for HEY1 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for HEY1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5J3

UniProtKB/Swiss-Prot:

HEY1_HUMAN :
  • Q9Y5J3
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 Orange domain.
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: Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGTG-3. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.

Gene Ontology (GO) - Molecular Function for HEY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000983 RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity ISS --
GO:0000988 protein binding transcription factor activity IDA 21290414
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity 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:

miRNA for HEY1 Gene

miRTarBase miRNAs that target HEY1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HEY1 Gene

Localization for HEY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEY1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HEY1 Gene COMPARTMENTS Subcellular localization image for HEY1 gene
Compartment Confidence
nucleus 4
extracellular 1

Gene Ontology (GO) - Cellular Components for HEY1 Gene

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

Pathways for HEY1 Gene

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

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:0001568 blood vessel development --
GO:0001570 vasculogenesis IEA --
GO:0002076 osteoblast development IEA --
genes like me logo Genes that share ontologies with HEY1: view

Transcripts for HEY1 Gene

Unigene Clusters for HEY1 Gene

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

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 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) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HEY1 Gene

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

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 35
  • 100 (n)
  • 100 (a)
HEY1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HEY1 35
  • 91.78 (n)
  • 95.39 (a)
HEY1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEY1 35
  • 90.57 (n)
  • 95.72 (a)
HEY1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hey1 35
  • 90.64 (n)
  • 96.32 (a)
Hey1 16
Hey1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEY1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEY1 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hey1 35
  • 86.53 (n)
  • 91.1 (a)
chicken
(Gallus gallus)
Aves HEY1 35
  • 78.35 (n)
  • 89.76 (a)
HEY1 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEY1 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.469 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hey1 35
  • 75.47 (n)
  • 84.62 (a)
Str.11458 35
zebrafish
(Danio rerio)
Actinopterygii Dr.19915 35
hey1 35
  • 66.78 (n)
  • 74.66 (a)
hey1 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hey 36
  • 28 (a)
OneToMany
Hey 37
  • 61 (a)
Species with no ortholog for HEY1:
  • 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

Selected 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 MAF
rs12212 -- 79,765,383(-) CCGGT(G/T)CTCCC reference, synonymous-codon
rs1046472 -- 79,764,294(-) TGGAA(A/C)CTGTT utr-variant-3-prime
rs1062358 -- 79,764,943(-) ATTGA(A/G)ATAGT utr-variant-3-prime
rs2467789 -- 79,765,029(+) AAAGA(A/T)AAAAG utr-variant-3-prime
rs3175191 -- 79,765,348(-) GTCGC(C/T)GCCTC reference, missense

Relevant External Links for HEY1 Gene

HapMap Linkage Disequilibrium report
HEY1
Human Gene Mutation Database (HGMD)
HEY1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HEY1 Gene

Disorders for HEY1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for HEY1 Gene including...

Search for HEY1 Gene in MalaCards »

Relevant External Links for HEY1

Genetic Association Database (GAD)
HEY1
Human Genome Epidemiology (HuGE) Navigator
HEY1
genes like me logo Genes that share disorders with HEY1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. Identification and expression of a novel family of bHLH cDNAs related to Drosophila hairy and enhancer of split. (PMID: 10403790) Kokubo H. … Johnson R.L. (Biochem. Biophys. Res. Commun. 1999) 2 3 4
  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. (Mech. Dev. 1999) 2 3 4
  4. Cardiovascular basic helix loop helix factor 1, a novel transcriptional repressor expressed preferentially in the developing and adult cardiovascular system. (PMID: 10692439) Chin M.T. … Lee M.-E. (J. Biol. Chem. 2000) 3 4
  5. HERP, a new primary target of Notch regulated by ligand binding. (PMID: 11486044) Iso T. … Hamamori Y. (Mol. Cell. Biol. 2001) 3 23

Products for HEY1 Gene

Sources for HEY1 Gene

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