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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HES1 Gene

protein-coding   GIFtS: 61
GCID: GC03P193853

Hairy And Enhancer Of Split 1, (Drosophila)

(Previous name: hairy homolog (Drosophila))
(Previous symbol: HRY)
  45 related diseases
at
MalaCards
 

Aliases
for HES1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
Hairy And Enhancer Of Split 1, (Drosophila)1 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 Homolog (Drosophila)1     Hairy And Enhancer Of Split 13

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


Summaries
for HES1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 (hairy and enhancer of split 1, (Drosophila)) is a protein-coding gene. Diseases associated with HES1 include chronic cholangitis, and pancreatic endocrine tumor, and among its related super-pathways are Notch signaling pathway and Regulation of beta-cell development. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences 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 plasmid: HES1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HES1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for HES1 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14469

    • HES1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HES1 Protein Expression
    REFSEQ proteins: NP_005515.1  
    ENSEMBL proteins: 
     ENSP00000232424  
    Reactome Protein details: Q14469
    Human Recombinant Protein Products for HES1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ISS--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--

    HES1 for ontologies           About GeneDecksing



    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
    GenScript Custom Superior Antibodies 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 

    Assay Products for HES1: 
    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

    Protein Domains /
    Families
    for HES1 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 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


    Function
    for HES1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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): 5/11 molecular function terms (GO ID links to tree view) (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:
         15/18 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Hes1) (see all 18):
     cellular  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  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:
         Mouse knock-out Hes1tm1Fgu for HES1
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HES1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HES1

    miRNA
    Products:            		miRTarBase miRNAs that target HES1:
    hsa-mir-23a (MIRT002953), hsa-mir-199b-5p (MIRT000208)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HES1
    8/27 QIAGEN miScript miRNA 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 plasmid: HES1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HES1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HES1
    Sirion Biotech Custom design and validation of potent shRNA sequences against HES1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HES1
    Sirion Biotech Customized adenovirus for overexpression of HES1
                         Customized adenovirus for potent knockdown of HES1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HES1 (see all 7)
    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)
    Browse Sino Biological Human cDNA Clones
    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
    Search LifeMap BioReagents cell lines for HES1
    Sirion Biotech Customized stable knockdown cell line services for HES1
                         Customized inducible knockdown cell line services for HES1
                         Customized stable overexpressing cell line services for HES1
                         Customized inducible overexpressing cell line services for HES1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HES1


    Pathways & Interactions
    for HES1 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HES1 About   (see all 20)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway
    		Notch signaling pathway0.84
    		Delta-Notch Signaling Pathway0.33
    		Notch Signaling Pathway0.84
    2Regulation of beta-cell development
    		Regulation of beta-cell development0.56
    		Maturity onset diabetes of the young0.56
    3Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    		Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    		Signaling by NOTCH1 in Cancer0.79
    		Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    		Signaling by NOTCH10.79
    		Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    		Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    		FBXW7 Mutants and NOTCH1 in Cancer0.79
    		Signaling by NOTCH0.74
    4NOTCH2 intracellular domain regulates transcription
    		Signaling by NOTCH20.66
    		NOTCH2 intracellular domain regulates transcription0.38
    5Axon guidance
    		Developmental Biology0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for HES1
        Development Notch Signaling Pathway
    Transcription factors in neurogenesis

    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

    5/9 BioSystems Pathways for HES1 (see all 9)
        Notch Signaling Pathway
    SIDS Susceptibility Pathways
    Neural Crest Differentiation
    Id Signaling Pathway
    Delta-Notch Signaling Pathway

    5/17        Reactome Pathways for HES1 (see all 17)
        NOTCH1 Intracellular Domain Regulates Transcription
    Developmental Biology
    FBXW7 Mutants and NOTCH1 in Cancer
    Regulation of beta-cell development
    Signaling by NOTCH1 HD Domain Mutants in Cancer


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


    HES1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HES1

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

    5/47 Interacting proteins for HES1 (Q144691, 2, 3 ENSP000002324244) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    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): 5/83 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for HES1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HES1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about HES1

    Transcripts
    for HES1 gene

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HES1
    8/27 QIAGEN miScript miRNA 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 plasmid: HES1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HES1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HES1
    Sirion Biotech Custom design and validation of potent shRNA sequences against HES1
    Clone
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    OriGene ORF clones in mouse, rat for HES1
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    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 qSTAR qPCR primer pairs in human, mouse for HES1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HES1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HES1
      QIAGEN 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 

    24/213 AceView cDNA sequences (see all 213):

    BF446257 BM091066 AI223818 BM721856 AI336595 AF264785 CR616000 BM710434 
    BM761683 H85827 BC039152 AW026193 BF063295 BF196698 AK000415 AI660202 
    BF062503 BX366160 BM706316 AI368036 F29544 BU734696 H85621 BU753172 

    GeneLoc Exon Structure


    Expression
    for HES1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/19 selected tissues (see all 19) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 10 entries
             Duct Progenitor Cells Ventral Pancreatic Bud
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Medulla Oblongata
             brain/midbrain
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             Intervertebral Disc Nucleus Pulposus Cells Sacral Intervertebral Disc
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Late Retinal Progenitor Cells Neuroblastic Layer
             Retina
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Mesencephalic Ventricular Zone

    See HES1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HES1

    SOURCE GeneReport for Unigene cluster: Hs.250666
        SABiosciences Expression via Pathway-Focused 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
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HES1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HES1
    QIAGEN 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
    for HES1 gene

    (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
    This gene was present in the common ancestor of animals.

    Orthologs for HES1 gene from 6/15 species (see all 15)    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 92.02(n)1
    98.21(a)1    		   16 (21.09 cM)5
    152051  NM_008235.21  NP_032261.11 
     300643845 
    chicken
    (Gallus gallus)    		 Aves HES16
    HES46
    		 transcription factor HES-1 isoform 2
    		 67(a)
    60(a)
    		 1 ↔ 1
    possible ortholog
    		 9(12410467-12423754)
    21(2803581-2805434)
    lizard
    (Anolis carolinensis)    		 Reptilia HES16
    		 Uncharacterized protein
    		 61(a)
    		 1 ↔ 1
    		 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 h1 hairy 56.41(n)
    49.74(a)    		   38995  NM_001014577.1  NP_001014577.1 


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

    Paralogs
    for HES1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for HES1 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/125 SNPs in HES1 are shown (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

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    Disorders / Diseases
    for HES1 gene

    (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.)
    About This Section
    HES1 for disorders           About GeneDecksing

    OMIM gene information: 139605    OMIM disorders: --

    20/45 diseases for HES1 (see all 45):    About MalaCards
    chronic cholangitis    pancreatic endocrine tumor    biliary atresia    optic atrophy
    pharyngitis    maturity-onset diabetes of the young    small cell carcinoma    cervical cancer
    attention deficit hyperactivity disorder    arteriosclerosis    autism spectrum disorder    cholangitis
    fanconi's anemia    purpura    colon adenocarcinoma    cervicitis
    medulloblastoma    acute lymphoblastic leukemia    meningioma    lymphoblastic leukemia

    10/15 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

    Publications
    for HES1 gene

    (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)
    About This Section

    PubMed articles for HES1 gene, integrated from 9 sources (see all 225):
    (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. (1994)
    2. HES1 is a novel interactor of the Fanconi anemia core complex. (PubMed id 18550849)1, 2, 9 Tremblay C.S....Carreau M. (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. (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. (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. (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. (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. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. HES-1, a novel target gene for the aryl hydrocarbon receptor. (PubMed id 14722248)1, 9 Thomsen J.S....Gustafsson J.A. (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. (2003)

    External Searches for HES1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HES1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3280 HGNC: 5192 AceView: HES1 Ensembl:ENSG00000114315 euGenes: HUgn3280
    ECgene: HES1 Kegg: 3280 H-InvDB: HES1

    Other Databases showing HES1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HES1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HES1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for HES1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for HES1 gene:
    Search GeneIP for patents involving HES1

    GeneCards and IP:
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    About This Section

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