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HES1 Gene

protein-coding   GIFtS: 61
GCID: GC03P193853

Hes Family BHLH Transcription Factor 1

(Previous names: hairy homolog (Drosophila), hairy and enhancer of split...)
(Previous symbol: HRY)
  See related diseases
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 Family BHLH Transcription Factor 11 2     HES-12
HRY1 2 3 5     HHL2
Class B Basic Helix-Loop-Helix Protein 392 3     Transcription Factor HES-12
Hairy Homolog2 3     BHLHB393
Hairy-Like Protein2 3     HL3
bHLHb392 3     hHL3
Hairy And Enhancer Of Split 1, (Drosophila)1     Hairy And Enhancer Of Split 13
Hairy Homolog (Drosophila)1     

External Ids:    HGNC: 51921   Entrez Gene: 32802   Ensembl: ENSG000001143157   OMIM: 1396055   UniProtKB: Q144693   

Export aliases for HES1 gene to outside databases

Previous GC identifers: GC03P195130 GC03P195255 GC03P195174 GC03P195336 GC03P191241


(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 HES1 Gene:
This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional
repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of
basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box.
(provided by RefSeq, Jul 2008)

GeneCards Summary for HES1 Gene:
HES1 (hes family bHLH transcription factor 1) is a protein-coding gene. Diseases associated with HES1 include chronic cholangitis, and dominant optic atrophy. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HES4.

UniProtKB/Swiss-Prot: HES1_HUMAN, Q14469
Function: Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a
negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs:
5'-CACNAG-3' with high affinity and on E-box motifs: 5'-CANNTG-3' with low affinity (By similarity). May play a
role in a functional FA core complex response to DNA cross-link damage, being required for the stability and
nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA
damage

Gene Wiki entry for HES1 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:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the HES1 gene promoter:
         E2F-3a   E2F-1   E2F   STAT3   E2F-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHES1 promoter sequence
   Search Chromatin IP Primers for HES1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HES1


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

Entrez Gene cytogenetic band: 3q28-q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q28-q29

HES1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HES1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P193853:  view genomic region     (about GC identifiers)

Start:
193,853,931 bp from pter      End:
193,856,521 bp from pter
Size:
2,591 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HES1_HUMAN, Q14469 (See protein sequence)
Recommended Name: Transcription factor HES-1  
Size: 280 amino acids; 29541 Da
Subunit: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE
family. Interacts (via WPRW motif) with TLE1, and more weakly with TLE2. Interacts with HES6 (By similarity).
Interacts with SIRT1. Interacts with an FA complex, composed of FANCA, FANCF, FANCG and FANCL, but not of FANCC,
nor FANCE
Secondary accessions: Q6FHB2

Explore the universe of human proteins at neXtProt for HES1: NX_Q14469

Explore proteomics data for HES1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys86, Lys109
  • Modification sites at PhosphoSitePlus

  • See HES1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005515.1  
    ENSEMBL proteins: 
     ENSP00000232424  
    Reactome Protein details: Q14469

    HES1 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HES1
    OriGene Protein Over-expression Lysate for HES1
    OriGene MassSpec for HES1
    OriGene Custom Protein Services for HES1
    GenScript Custom Purified and Recombinant Proteins Services for HES1
    Novus Biologicals HES1 Proteins
    Novus Biologicals HES1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HES1

    HES1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HES1
    R&D Systems Antibodies for HES1 (HES-1)
    Cell Signaling Technology (CST) Antibodies for HES1 
    OriGene Antibodies for HES1
    OriGene Custom Antibody Services for HES1
    Novus Biologicals HES1 Antibodies
    Abcam antibodies for HES1
    Cloud-Clone Corp. Antibodies for HES1
    ThermoFisher Antibodies for HES1
    LSBio Antibodies in human, mouse, rat for HES1

    HES1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HES1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HES1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HES1
    Cloud-Clone Corp. CLIAs for HES1


    (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 Q14469

    ProtoNet protein and cluster: Q14469

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


    UniProtKB/Swiss-Prot: HES1_HUMAN, Q14469
    Domain: Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box
    (CACNAG), rather than the canonical E-box (CANNTG)
    Domain: The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with
    Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related
    proteins (By similarity)
    Domain: The bHLH, as well as cooperation between the central Orange domain and the C-terminal WRPW motif, is
    required for transcriptional repressor activity (By similarity)
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 Orange domain


    HES1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HES1_HUMAN, Q14469
    Function: Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a
    negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs:
    5'-CACNAG-3' with high affinity and on E-box motifs: 5'-CANNTG-3' with low affinity (By similarity). May play a
    role in a functional FA core complex response to DNA cross-link damage, being required for the stability and
    nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA
    damage

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity ----
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription ISS--
    GO:0003677DNA binding TAS7906273
    GO:0003700sequence-specific DNA binding transcription factor activity IDA17681138
    GO:0005515protein binding IPI12535671
         
    HES1 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Hes1) (see all 18):
     cellular  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  immune system  liver/biliary system 
     mortality/aging  nervous system  no phenotypic analysis  normal  respiratory system 

    HES1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hes1tm1Fgu for HES1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HES1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HES1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HES1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HES1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HES1:
    hsa-mir-23a-3p (MIRT002953), hsa-let-7b-5p (MIRT051991), hsa-mir-92a-3p (MIRT049494), hsa-mir-524-5p (MIRT006893), hsa-mir-296-3p (MIRT038426), hsa-mir-222-3p (MIRT046625), hsa-mir-199b-5p (MIRT000208)

    Block miRNA regulation of human, mouse, rat HES1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HES1 (see all 27):
    hsa-miR-520d-5p hsa-miR-300 hsa-miR-323b-3p hsa-miR-1271 hsa-miR-374a hsa-miR-301a hsa-miR-374c hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidHES1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HES1
    Predesigned siRNA for gene silencing in human, mouse, rat HES1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HES1

    Clone
    Products:
         
    OriGene clones in human, mouse for HES1 (see all 6)
    OriGene ORF clones in mouse, rat for HES1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HES1 (NM_005524)
    Sino Biological Human cDNA Clone for HES1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HES1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HES1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HES1
    Browse ESI BIO Cell Lines and PureStem Progenitors for HES1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HES1


    (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
    HES1_HUMAN, Q14469: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ISS--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    HES1 for ontologies           About GeneDecksing


    (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 HES1 About   (see all 19)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of beta-cell development
    Regulation of beta-cell development0.64
    Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells0.00
    Maturity onset diabetes of the young0.61
    2Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    3Signaling 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
    4Signaling by NOTCH2
    Signaling by NOTCH20.67
    NOTCH2 intracellular domain regulates transcription0.00
    5L1CAM interactions
    Developmental Biology0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for HES1
        Notch Signaling Pathways


    1 Cell Signaling Technology (CST) Pathway for HES1
        Wnt / Hedgehog / Notch

    1 GeneGo (Thomson Reuters) Pathway for HES1
        Development Notch Signaling Pathway

    Selected BioSystems Pathways for HES1 (see all 9)
        SIDS Susceptibility Pathways
    Notch Signaling Pathway
    Neural Crest Differentiation
    Id Signaling Pathway
    Delta-Notch Signaling Pathway


    5 Reactome Pathways for HES1
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    NOTCH2 intracellular domain regulates transcription
    Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
    Constitutive Signaling by NOTCH1 PEST Domain Mutants


    3 Kegg Pathways  (Kegg details for HES1):
        Fanconi anemia pathway
    Notch signaling pathway
    Maturity onset diabetes of the young


    HES1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HES1 (see all 7): 
              Notch Signaling Targets in human mouse rat
              Neurogenesis in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HES1

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

    Selected Interacting proteins for HES1 (Q144691, 2, 3 ENSP000002324244) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIRT1Q96EB61, 3, ENSP000002120154EBI-2832522,EBI-1802965 I2D: score=3 STRING: ENSP00000212015
    GAPDHP044062, 3, ENSP000002292394MINT-8256349 I2D: score=2 STRING: ENSP00000229239
    CSNK1EP496742, 3MINT-8252769 I2D: score=2 
    FHL1Q136422, 3MINT-8255415 I2D: score=2 
    HDAC6Q9UBN72, 3MINT-8258032 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 83):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA12032823
    GO:0001701in utero embryonic development ----
    GO:0001889liver development IEA--
    GO:0003143embryonic heart tube morphogenesis ISS--
    GO:0003151outflow tract morphogenesis ISS--

    HES1 for ontologies           About GeneDecksing



    (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 HES1

    6 Novoseek inferred chemical compound relationships for HES1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tetrapeptide 19.8 2 10617648 (1), 12972610 (1)
    retinoic acid 18 9 19322650 (3), 19039095 (2), 12080040 (1), 15467735 (1)
    12-o-tetradecanoylphorbol 13-acetate 4.48 2 15743775 (1)
    oligonucleotide 0 2 11054669 (1)
    glycogen 0 1 17234779 (1)
    estrogen 0 6 19039095 (2), 14722248 (2)



    HES1 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HES1 gene: 
    NM_005524.3  

    Unigene Cluster for HES1:

    Hairy and enhancer of split 1, (Drosophila)
    Hs.250666  [show with all ESTs]
    Unigene Representative Sequence: NM_005524
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000232424(uc003ftq.2) ENST00000476918(uc011bst.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HES1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HES1 (see all 27):
    hsa-miR-520d-5p hsa-miR-300 hsa-miR-323b-3p hsa-miR-1271 hsa-miR-374a hsa-miR-301a hsa-miR-374c hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidHES1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for HES1
    Predesigned siRNA for gene silencing in human, mouse, rat HES1
    Clone
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    OriGene clones in human, mouse for HES1 (see all 6)
    OriGene ORF clones in mouse, rat for HES1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HES1 (NM_005524)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HES1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HES1
    Primer
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    OriGene qPCR primer pairs and template standards for HES1
    OriGene qSTAR qPCR primer pairs in human, mouse for HES1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HES1
      QuantiTect SYBR Green Assays in human, mouse, rat HES1
      QuantiFast Probe-based Assays in human, mouse, rat HES1

    Additional mRNA sequence: 

    AF264785.1 AK000415.1 AK300482.1 BC005178.1 BC039152.1 CR541843.1 

    8 DOTS entries:

    DT.455057  DT.97848019  DT.120913653  DT.100787901  DT.100787905  DT.95072022  DT.95285462  DT.100787904 

    Selected AceView cDNA sequences (see all 213):

    AI336595 AW189760 BM718748 BC039152 BM820077 BU688565 AI337008 BQ230932 
    BM721856 BU734696 BM713155 AI660202 NM_005524 BM710434 BM760757 BM840285 
    AI431412 BF063295 AW026193 AI368036 BM975641 BM761683 BM091066 BF196698 

    GeneLoc Exon Structure


    (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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    HES1 expression in normal human tissues (normalized intensities)      HES1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTATATTT
    HES1 Expression
    About this image


    HES1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 8 entries
             Duct Progenitor Cells Ventral Pancreatic Bud
     
     Epithelial Cells
             Duct Progenitor Cells Ventral Pancreatic Bud
     
     Eye (Sensory Organs)    fully expand to see all 6 entries
             Early Retinal Progenitor Cells Retinal Neuroblastic Layer
             Retina
     
     Hair (Integumentary System)    fully expand to see all 6 entries
             Fetal Medulla Cells Hair Shaft
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Mesencephalic Ventricular Zone
             Floor plate-like cells
    HES1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HES1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.250666
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HES1 (see all 7): 
              Notch Signaling Targets in human mouse rat
              Neurogenesis in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HES1
    OriGene qSTAR qPCR primer pairs in human, mouse for HES1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HES1
    QuantiTect SYBR Green Assays in human, mouse, rat HES1
    QuantiFast Probe-based Assays in human, mouse, rat HES1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HES1

    (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 HES1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hes11 , 5 hairy and enhancer of split 1 (Drosophila)1, 5 89.76(n)1
    94.64(a)1
      16 (21.09 cM)5
    152051  NM_008235.21  NP_032261.11 
     300643845 
    chicken
    (Gallus gallus)
    Aves CHAIRY-16
    Gallus gallus hairy and enhancer of split 1, (Dros...
    60(a)
    many ↔ many
    21(2803581-2805434)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    61(a)
    many ↔ many
    GL343538.1(309240-313331)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3978132 hairy1 77.2(n)    BC054333.1 
    zebrafish
    (Danio rerio)
    Actinopterygii her62 hairy-related 6 76.84(n)   30288  BC059551.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta h6
    dpn6
    (see all 3)
    deadpan
    (see all 3)
    28(a)
    22(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    3L(8668859-8672353)
    2R(4116476-4119832)


    ENSEMBL Gene Tree for HES1 (if available)
    TreeFam Gene Tree for HES1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HES1 gene
    HES42  HES52  HES62  HES22  
    4 SIMAP similar genes for HES1 using alignment to 2 protein entries:     HES1_HUMAN (see all proteins):
    HES4    HES2    HES6    HES3

    HES1 for paralogs           About GeneDecksing



    (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)
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    Selected SNPs for HES1 (see all 125)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1489414641,2
    C--193852633(+) CCCGG-/ACACACA 1 -- us2k10--------
    rs2006525691,2
    --193852651(+) CACAC-/ACCCCC 1 -- us2k10--------
    rs1150988321,2
    F--193852652(+) CACACA/CCCCCA 1 -- us2k11Minor allele frequency- C:0.44WA 118
    rs2013232131,2
    --193852652(+) ACACC-/ACCCCA 1 -- us2k10--------
    rs1835407891,2
    --193853065(+) CGCGCC/GGCAGA 1 -- us2k10--------
    rs1481856811,2
    --193853257(+) GAGGAA/CTTTCT 1 -- us2k10--------
    rs1879340821,2
    --193853290(+) TTCAAG/TAACTA 1 -- us2k10--------
    rs738895621,2
    C,F--193853388(+) CCTTTA/GCCATC 1 -- us2k12Minor allele frequency- G:0.14WA 120
    rs168251201,2
    F--193853536(+) AAAAAA/-TATGT 1 -- us2k12Minor allele frequency- -:0.01MN EA 356
    rs2000252941,2
    C--193853537(+) AAAAA-/TATGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HES1 (193853931 - 193856521 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for HES1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv878126CNV Loss21882294
    nsv822397CNV Gain20364138
    nsv822399CNV Gain20364138
    nsv822400CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HES1
    DNA2.0 Custom Variant and Variant Library Synthesis for HES1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 139605    OMIM disorders: --

    Selected diseases for HES1 (see all 48):    About MalaCards
    chronic cholangitis    dominant optic atrophy    leukemia/lymphoma, t-cell    pancreatic endocrine tumors
    biliary atresia    optic atrophy    pharyngitis    small cell carcinoma
    attention deficit hyperactivity disorder    arteriosclerosis    maturity-onset diabetes of the young    medulloblastoma
    cervical cancer    fanconi's anemia    autism spectrum disorder    cholangitis
    purpura    diabetic nephropathy    cervicitis    colon adenocarcinoma


    HES1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for HES1 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    t-all 70.3 3 17549349 (2)
    leukemia 28.1 1 15866157 (1)
    medulloblastoma 23.5 1 15520184 (1)
    tumors 22.2 16 18491256 (4), 19020755 (3), 20022559 (3), 18719287 (1) (see all 7)
    carcinoid 13.7 6 16360401 (6)
    colon cancer 2.37 1 11127827 (1)
    cervical cancer 0 1 17098279 (1)
    cancer lung 0 6 9144241 (2), 17804716 (1)
    breast cancer 0 8 11127827 (3), 12080040 (1), 20010940 (1), 19322650 (1) (see all 5)
    gastric cancer 0 3 17611704 (1)

    Genetic Association Database (GAD): HES1
    Human Genome Epidemiology (HuGE) Navigator: HES1 (10 documents)

    Export disorders for HES1 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 HES1 gene, integrated from 10 sources (see all 228):
    (articles sorted by number of sources associating them with HES1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic cloning and chromosomal localization of HRY, the human homolog to the Drosophila segmentation gene, hairy. (PubMed id 8020957)1, 2, 3 Feder J.N.... Jan Y.-N. (Genomics 1994)
    2. HES1 is a novel interactor of the Fanconi anemia core complex. (PubMed id 18550849)1, 2, 9 Tremblay C.S....Carreau M. (Blood 2008)
    3. Human Sir2-related protein SIRT1 associates with the bHLH repressors HES1 and HEY2 and is involved in HES1- and HEY2-mediated transcriptional repression. (PubMed id 12535671)1, 2, 9 Takata T. and Ishikawa F. (Biochem. Biophys. Res. Commun. 2003)
    4. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    5. 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)
    6. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. (PubMed id 18821565)1, 4 Lasky-Su J....Faraone S.V. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    7. The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes. (PubMed id 16894395)1, 4 Brookes K....Asherson P. (Mol. Psychiatry 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. HES-1, a novel target gene for the aryl hydrocarbon receptor. (PubMed id 14722248)1, 9 Thomsen J.S....Gustafsson J.A. (Mol. Pharmacol. 2004)
    10. Hes6 promotes cortical neurogenesis and inhibits Hes1 transcription repression activity by multiple mechanisms. (PubMed id 12972610)1, 9 Gratton M.O....Stifani S. (Mol. Cell. Biol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 3280 HGNC: 5192 AceView: HES1 Ensembl:ENSG00000114315 euGenes: HUgn3280
    ECgene: HES1 Kegg: 3280 H-InvDB: HES1

    (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 HES1 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 HES1 gene:
    Search GeneIP for patents involving HES1

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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