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HEY1 Gene

protein-coding   GIFtS: 62
GCID: GC08M080676

Hes-Related Family BHLH Transcription Factor With YRPW Motif...

(Previous name: hairy/enhancer-of-split related with YRPW motif 1)
  See HEY1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hes-Related Family BHLH Transcription Factor With YRPW Motif 11 2     HES-Related Repressor Protein 12 3
Hairy/Enhancer-Of-Split Related With YRPW Motif 11 2     BHLHb312
Cardiovascular Helix-Loop-Helix Factor 22 3     OAF12
Class B Basic Helix-Loop-Helix Protein 312 3     Basic Helix-Loop-Helix Protein OAF12
Hairy And Enhancer Of Split-Related Protein 12 3     Hairy/Enhancer-Of-Split Related With YRPW Motif Protein 12
Hairy-Related Transcription Factor 12 3     HES-Related Repressor Protein 22
CHF22 3     BHLHB313
HERP22 3     CHF-23
HESR12 3     HESR-13
HRT-12 3     HRT13
hHRT12 3     bHLHb313

External Ids:    HGNC: 48801   Entrez Gene: 234622   Ensembl: ENSG000001646837   OMIM: 6029535   UniProtKB: Q9Y5J33   

Export aliases for HEY1 gene to outside databases

Previous GC identifers: GC08M079562 GC08M080724 GC08M080399 GC08M080726 GC08M080838 GC08M076165


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include protein dimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HEYL.

UniProtKB/Swiss-Prot: HEY1_HUMAN, Q9Y5J3
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 Wiki entry for HEY1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008183.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the HEY1 gene promoter:
         p53   AP-1   ATF-2   C/EBPalpha   Evi-1   GATA-1   Max   c-Jun   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHEY1 promoter sequence
   Search Chromatin IP Primers for HEY1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HEY1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21   Ensembl cytogenetic band:  8q21.13   HGNC cytogenetic band: 8q21

HEY1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEY1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M080676:  view genomic region     (about GC identifiers)

Start:
80,676,245 bp from pter      End:
80,680,098 bp from pter
Size:
3,854 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HEY1_HUMAN, Q9Y5J3 (See protein sequence)
Recommended Name: Hairy/enhancer-of-split related with YRPW motif protein 1  
Size: 304 amino acids; 32613 Da
Subunit: Self-associates (By similarity). Interacts with HES1 and HEYL (By similarity). Interacts with HDAC1,
NCOR1 and SIN3A (By similarity). Interacts with GATA4 and GATA6 (By similarity). Interacts with CCDC89/BOIP (By
similarity)
1 PDB 3D structure from and Proteopedia for HEY1:
2DB7 (3D)    
Secondary accessions: B2R883 Q5TZS3 Q8NAM2 Q9NYP4
Alternative splicing: 2 isoforms:  Q9Y5J3-1   Q9Y5J3-2   

Explore the universe of human proteins at neXtProt for HEY1: NX_Q9Y5J3

Explore proteomics data for HEY1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HEY1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001035798.1  NP_036390.3  NP_001269780.1  

    ENSEMBL proteins: 
     ENSP00000346761   ENSP00000338272   ENSP00000429792   ENSP00000429705  
    Reactome Protein details: Q9Y5J3

    HEY1 Human Recombinant Protein Products:

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    Novus Biologicals HEY1 Proteins
    Novus Biologicals HEY1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HEY1

     
    Search eBioscience for Proteins for HEY1 

     
    antibodies-online proteins for HEY1 (8 products) 

     
    antibodies-online peptides for HEY1

    HEY1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HEY1
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    Cloud-Clone Corp. Antibodies for HEY1
    ThermoFisher Antibodies for HEY1
    LSBio Antibodies in human, mouse, rat for HEY1
    antibodies-online antibodies for HEY1 (34 products) 

    HEY1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HEY1
    Cloud-Clone Corp. CLIAs for HEY1
    Search eBioscience for ELISAs for HEY1 
    antibodies-online kits for HEY1 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    3 InterPro protein domains:
     IPR018352 Orange_subgr
     IPR003650 Orange
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y5J3

    ProtoNet protein and cluster: Q9Y5J3

    2 Blocks protein domains:
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB003650 Orange


    UniProtKB/Swiss-Prot: HEY1_HUMAN, Q9Y5J3
    Similarity: Belongs to the HEY family
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 Orange domain


    Find genes that share domains with HEY1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEY1_HUMAN, Q9Y5J3
    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): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000983RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity ISS--
    GO:0000988protein binding transcription factor activity IDA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IDA15485867
    GO:0005515protein binding IPI10692439
         
    Find genes that share ontologies with HEY1           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hey1):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size/body 
     mortality/aging  muscle  nervous system  normal 

    Find genes that share phenotypes with HEY1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hey1tm1Kkb for HEY1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HEY1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HEY1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HEY1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HEY1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HEY1:
    hsa-mir-30b-5p (MIRT046126), hsa-mir-335-5p (MIRT017049), hsa-mir-375 (MIRT019763)

    Block miRNA regulation of human, mouse, rat HEY1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HEY1 (see all 11):
    hsa-miR-320a hsa-miR-505 hsa-miR-140-5p hsa-miR-520d-5p hsa-miR-196a* hsa-miR-320d hsa-miR-320b hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidHEY1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HEY1
    Predesigned siRNA for gene silencing in human, mouse, rat HEY1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for HEY1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HEY1 (NM_012258)
    Sino Biological Human cDNA Clone for HEY1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEY1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEY1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for HEY1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEY1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HEY1_HUMAN, Q9Y5J3: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ISS--

    Find genes that share ontologies with HEY1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HEY1 About   (see all 9)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 in Cancer0.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH10.79
    NOTCH1 Intracellular Domain Regulates Transcription0.68
    2Signaling by GPCR
    Signal Transduction0.58
    3Development NOTCH1 mediated pathway for NF KB activity modulation
    Development Notch Signaling Pathway0.50
    4Notch signaling pathway (KEGG)
    Delta-Notch Signaling Pathway0.33
    5Transcription factors in neurogenesis
    Transcription factors in neurogenesis


    Find genes that share SuperPaths with HEY1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for HEY1
        Notch Signaling Pathways


    1 GeneGo (Thomson Reuters) Pathway for HEY1
        Development Notch Signaling Pathway

    3 BioSystems Pathways for HEY1
        Heart Development
    Delta-Notch Signaling Pathway
    Notch-mediated HES/HEY network


    3 Reactome Pathways for HEY1
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    Constitutive Signaling by NOTCH1 PEST Domain Mutants


        Pathway & Disease-focused RT2 Profiler PCR Arrays including HEY1 (see all 7): 
              Notch Signaling Targets in human mouse rat
              Neurogenesis in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HEY1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HEY1 (Q9Y5J32, 3 ENSP000003382724) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-61736 I2D: score=3 STRING: ENSP00000332973
    LAPTM5Q135712, 3MINT-62172 I2D: score=3 
    PRKD2Q9BZL62, 3MINT-61765 I2D: score=2 
    SKILP127572, 3, ENSP000002591194MINT-61692 I2D: score=3 STRING: ENSP00000259119
    SMAD9O151982, 3, ENSP000003691544MINT-61941 I2D: score=3 STRING: ENSP00000369154
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP11486045
    GO:0001525angiogenesis IEP11866539
    GO:0001568blood vessel development ----
    GO:0001570vasculogenesis IEA--
    GO:0002076osteoblast development IEA--

    Find genes that share ontologies with HEY1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HEY1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HEY1 gene (3 alternative transcripts): 
    NM_001040708.1  NM_012258.3  NM_001282851.1  

    Unigene Cluster for HEY1:

    Hairy/enhancer-of-split related with YRPW motif 1
    Hs.234434  [show with all ESTs]
    Unigene Representative Sequence: NM_001040708
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354724(uc010lzq.3 uc003ybm.3) ENST00000337919(uc003ybl.3)
    ENST00000435063 ENST00000523976 ENST00000518733 ENST00000521111 ENST00000519075
    ENST00000523531
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate HEY1 (see all 11):
    hsa-miR-320a hsa-miR-505 hsa-miR-140-5p hsa-miR-520d-5p hsa-miR-196a* hsa-miR-320d hsa-miR-320b hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidHEY1 3' UTR sequence
    Inhib. RNA
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    OriGene ORF clones in mouse, rat for HEY1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HEY1 (NM_012258)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEY1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEY1
    Primer
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    OriGene qPCR primer pairs and template standards for HEY1
    OriGene qSTAR qPCR primer pairs in human, mouse for HEY1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HEY1
      QuantiTect SYBR Green Assays in human, mouse, rat HEY1
      QuantiFast Probe-based Assays in human, mouse, rat HEY1

    Additional mRNA sequence: 

    AF151522.1 AF176422.1 AF232239.1 AF254637.1 AF311883.1 AJ272214.1 AK074641.1 AK226041.1 
    AK293646.1 AK307622.1 AK313271.1 BC001873.1 BT020065.1 

    8 DOTS entries:

    DT.453681  DT.100755163  DT.100755165  DT.100755167  DT.100755164  DT.121474397  DT.121474401  DT.121474406 

    Selected AceView cDNA sequences (see all 133):

    BX279954 AI078800 CB044126 AI302724 AF311883 AJ272214 CR622924 AL544498 
    CR607416 AL520694 BU782955 BI491971 BI916292 AF151522 CR598609 BU737949 
    AL528481 AI361962 AA974813 AI279154 BF062158 BQ893783 CB153638 BQ439301 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for HEY1    About this scheme

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


    ECgene alternative splicing isoforms for HEY1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HEY1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACTGTGGT
    HEY1 Expression
    About this image


    HEY1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             N2/LSB/S/F8-induced cells
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             S-shaped Body
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
    HEY1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HEY1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.234434

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HEY1 (see all 7): 
              Notch Signaling Targets in human mouse rat
              Neurogenesis in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HEY1
    OriGene qSTAR qPCR primer pairs in human, mouse for HEY1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HEY1
    QuantiTect SYBR Green Assays in human, mouse, rat HEY1
    QuantiFast Probe-based Assays in human, mouse, rat HEY1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEY1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for HEY1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hey11 , 5 hairy/enhancer-of-split related with YRPW motif 11, 5 90.64(n)1
    96.32(a)1
      3 (2.15 cM)5
    152131  NM_010423.21  NP_034553.21 
     86633625 
    chicken
    (Gallus gallus)
    Aves HEY11 hairy/enhancer-of-split related with YRPW motif 1 78.35(n)
    89.76(a)
      428365  XM_425926.4  XP_425926.3 
    lizard
    (Anolis carolinensis)
    Reptilia HEY16
    Uncharacterized protein
    83(a)
    1 ↔ 1
    4(25153112-25162432)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.4692 Xenopus laevis mRNA for bHLH protein Hesr-1/Hey1 (xbc8 more 80.83(n)    AJ401271.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.199152 Danio rerio mRNA for basic helix-loop-helix transcription more 77.27(n)    AJ510221.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hey3 transcription factor 61(a)   44A2   --


    ENSEMBL Gene Tree for HEY1 (if available)
    TreeFam Gene Tree for HEY1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HEY1 gene
    HEYL2  HELT2  HEY22  
    3 SIMAP similar genes for HEY1 using alignment to 3 protein entries:     HEY1_HUMAN (see all proteins):
    OAF1    HEY2    HEYL

    Find genes that share paralogs with HEY1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for HEY1 (see all 152)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1483354091,2
    --80675751(+) ACAGCC/TTGCCA 2 -- ds50010--------
    rs342191731,2
    C--80675817(+) CATTT-/AAAAAA 2 -- ds50011Minor allele frequency- A:0.00CSA 2
    rs1874097281,2
    --80675829(+) ATTAAG/TAAAAG 2 -- ds50010--------
    rs1143601221,2
    C,F--80675882(+) AGGTAC/TTCTCA 2 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1890342311,2
    --80676050(+) TGTAGA/GAGGCA 2 -- ds50010--------
    rs38336911,2
    C--80676259(+) CTTTC-/TTTTTT 2 -- ut31 trp30--------
    rs1996518331,2
    --80676265(+) TTTTT-/ATTTAG 2 -- ut310--------
    rs1462429301,2
    --80676270(+) ATTTAA/GTCACA 2 -- ut310--------
    rs1810296491,2
    --80676337(+) TGCTAA/CAAGAA 2 -- ut310--------
    rs1856126851,2
    --80676369(+) TATAGA/CCCAAA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for HEY1 (80676245 - 80680098 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HEY1: --
    Human Gene Mutation Database (HGMD): HEY1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HEY1
    DNA2.0 Custom Variant and Variant Library Synthesis for HEY1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602953    OMIM disorders: --

    1 disease for HEY1:    
    About MalaCards
    mesenchymal chondrosarcoma


    Find genes that share disorders with HEY1           About GenesLikeMe

    Genetic Association Database (GAD): HEY1
    Human Genome Epidemiology (HuGE) Navigator: HEY1 (2 documents)

    Export disorders for HEY1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HEY1 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with HEY1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hey genes: a novel subfamily of hairy- and enhancer of split related genes specifically expressed during mouse embryogenesis. (PubMed id 10415358)1, 2, 3 Leimeister C.... Gessler M. (Mech. Dev. 1999)
    2. Identification and expression of a novel family of bHLH cDNAs related to Drosophila hairy and enhancer of split. (PubMed id 10403790)1, 2, 3 Kokubo H.... Johnson R.L. (Biochem. Biophys. Res. Commun. 1999)
    3. Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family. (PubMed id 10860664)1, 2, 9 Steidl C.... Gessler M. (Genomics 2000)
    4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Hairy-related transcription factors inhibit GATA-dependent cardiac gene expression through a signal-responsive mechanism. (PubMed id 15485867)1, 2 Kathiriya I.S.... Nakagawa O. (J. Biol. Chem. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling. (PubMed id 11095750)1, 2 Nakagawa O.... Olson E.N. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    9. Cardiovascular basic helix loop helix factor 1, a novel transcriptional repressor expressed preferentially in the developing and adult cardiovascular system. (PubMed id 10692439)1, 2 Chin M.T.... Lee M.-E. (J. Biol. Chem. 2000)
    10. HEY1 Leu94Met gene polymorphism dramatically modifies its biological functions. (PubMed id 19802006)1, 9 Villaronga M.A....Belandia B. (Oncogene 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23462 HGNC: 4880 AceView: HEY1 Ensembl:ENSG00000164683 euGenes: HUgn23462
    ECgene: HEY1 H-InvDB: HEY1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HEY1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HEY1 gene:
    Search GeneIP for patents involving HEY1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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