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

HES3 Gene

protein-coding   GIFtS: 40
GCID: GC01P006304

Hairy And Enhancer Of Split 3 (Drosophila)

  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)
About This Section

Aliases
Hairy And Enhancer Of Split 3 (Drosophila)1 2
Class B Basic Helix-Loop-Helix Protein 432 3
bHLHb432 3
Transcription Factor HES-32
BHLHB433
Hairy And Enhancer Of Split 33

External Ids:    HGNC: 262261   Entrez Gene: 3909922   Ensembl: ENSG000001736737   OMIM: 6099715   UniProtKB: Q5TGS13   

Export aliases for HES3 gene to outside databases

Previous GC identifers: GC01P006237 GC01P005452


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for HES3 Gene: 
HES3 (hairy and enhancer of split 3 (Drosophila)) is a protein-coding gene. Diseases associated with HES3 include hypospadias, and neuronitis. GO annotations related to this gene include protein dimerization activity and transcription factor binding.

UniProtKB/Swiss-Prot: HES3_HUMAN, Q5TGS1
Function: Transcriptional repressor of genes that require a bHLH protein for their transcription (By similarity)




(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_000001.10  NC_018912.2  NT_021937.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HES3 gene promoter:
         Max1   NRSF form 1   ARP-1   STAT3   NRSF form 2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHES3 promoter sequence
   Search SABiosciences Chromatin IP Primers for HES3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HES3


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

Entrez Gene cytogenetic band: 1p36.31   Ensembl cytogenetic band:  1p36.31   HGNC cytogenetic band: 1p36.31

HES3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HES3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P006304:  view genomic region     (about GC identifiers)

Start:
6,304,252 bp from pter      End:
6,305,638 bp from pter
Size:
1,387 bases      Orientation:
plus strand

(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: HES3_HUMAN, Q5TGS1 (See protein sequence)
Recommended Name: Transcription factor HES-3  
Size: 186 amino acids; 19968 Da
Subunit: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE
family (By similarity)
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=CAI19439.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5TGS0

Explore the universe of human proteins at neXtProt for HES3: NX_Q5TGS1

Explore proteomics data for HES3 at MOPED 

HES3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

HES3 Protein Expression

REFSEQ proteins: NP_001019769.1  
ENSEMBL proteins: 
 ENSP00000367130  

Human Recombinant Protein Products for HES3: 
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

HES3 for ontologies           About GeneDecksing



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(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

1 InterPro protein domain:
 IPR011598 bHLH_dom

Graphical View of Domain Structure for InterPro Entry Q5TGS1

ProtoNet protein and cluster: Q5TGS1

1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

UniProtKB/Swiss-Prot: HES3_HUMAN, Q5TGS1
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)
Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
Similarity: Contains 1 Orange domain


HES3 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, 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: HES3_HUMAN, Q5TGS1
Function: Transcriptional repressor of genes that require a bHLH protein for their transcription (By similarity)

     Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding IEA--
GO:0008134transcription factor binding NAS17611704
GO:0046983protein dimerization activity IEA--
     
HES3 for ontologies           About GeneDecksing


Phenotypes:
     6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hes3):
 cellular  embryogenesis  growth/size  mortality/aging  nervous system 
 normal 

HES3 for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for HES3 
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   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HES3 
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(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



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HES3

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/10 Interacting proteins for HES3 (ENSP000003671304) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
InteractantInteraction Details
GeneCardExternal ID(s)
ACOT7ENSP000003670864STRING: ENSP00000367086
ALDH1L1ENSP000003770834STRING: ENSP00000377083
ATPIF1ENSP000003352034STRING: ENSP00000335203
CRYZENSP000003393994STRING: ENSP00000339399
ENSG00000225073ENSP000004003264STRING: ENSP00000400326
About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
GO:0001701in utero embryonic development IEA--
GO:0006351transcription, DNA-dependent IEA--
GO:0021555midbrain-hindbrain boundary morphogenesis IEA--
GO:0021557oculomotor nerve development IEA--

HES3 for ontologies           About GeneDecksing



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

Browse Tocris compounds for HES3

Search CenterWatch for drugs/clinical trials and news about HES3

(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, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HES3 gene: 
NM_001024598.3  

Unigene Cluster for HES3:

Hairy and enhancer of split 3 (Drosophila)
Hs.532677  [show with all ESTs]
Unigene Representative Sequence: CX762307
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000377898(uc009vly.2)
miRNA
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HES3

1 DOTS entry:

DT.102837123 

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™, 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

HES3 expression in normal human tissues (normalized intensities)      HES3 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GACAGCGCCG
HES3 Expression
About this image


HES3 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/11 selected tissues (see all 11) fully expand
 
 Brain (Nervous System)    fully expand to see all 3 entries
         Cerebral Cortex
         brain/midbrain   
 
 Limb (Muscoskeletal System)    fully expand to see all 2 entries
         limb/hindlimb   
 
 Mesoderm (Gastrulation Derivatives)
         skeleton/axial skeleton   
 
 Lower Urinary Tract (Urinary System)
         visceral organ   
 
 Neural Tube (Nervous System)
         Telencephalon

See HES3 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.532677
    SABiosciences Custom PCR Arrays for HES3
Primer
Products:
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HES3
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HES3

(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 chordates.

Orthologs for HES3 gene from 2/6 species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Hes31 , 5 hairy and enhancer of split 3 (Drosophila)1, 5 74.48(n)1
68.57(a)1
  4 (83.01 cM)5
152071  NM_008237.41  NP_032263.21 
 1522859725 
zebrafish
(Danio rerio)
Actinopterygii her36
hairy-related 3
29(a)
1 ↔ 1
8(48790624-48791866)


ENSEMBL Gene Tree for HES3 (if available)
TreeFam Gene Tree for HES3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for HES3 gene
2 SIMAP similar genes for HES3 using alignment to 1 protein entry:     HES3_HUMAN:
HES1    HES4

HES3 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) 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

10/72 SNPs in HES3 are shown (see all 72)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1482065661,2
--6302304(+) GAGGAC/TAAATT 1 -- us2k10--------
rs66949551,2
C,A,H--6302510(+) GCCCCC/TTTTGT 1 -- us2k14Minor allele frequency- T:0.13NS NA 244
rs1852584551,2
--6303101(+) CTGGAA/GGTCAG 1 -- us2k10--------
rs1901553091,2
--6303238(+) CCGCCA/GTAGTC 1 -- us2k10--------
rs1144547721,2
C,F--6303319(+) TGGTCT/CCCTGC 1 -- us2k11Minor allele frequency- C:0.03WA 118
rs1427404371,2
--6303340(+) TGTGCA/GTGGAG 1 -- us2k10--------
rs1469669871,2
--6303345(+) GTGGAA/GCTGAG 1 -- us2k10--------
rs1380307971,2
--6303371(+) GTAGAC/TTTCTA 1 -- us2k10--------
rs726325721,2
C,F--6303383(+) TGCTTC/TTCCAT 1 -- us2k11Minor allele frequency- T:0.03NA 120
rs1150279021,2
F--6303438(+) GGCTGT/GAAGGA 1 -- us2k11Minor allele frequency- G:0.02WA 118

HapMap Linkage Disequilibrium report for HES3 (6304252 - 6305638 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/15 variations for HES3 (see all 15):    About this table     
Variant IDTypeSubtypePubMed ID
nsv508825CNV Insertion20534489
nsv871698CNV Loss21882294
dgv124n71CNV Loss21882294
nsv871646CNV Loss21882294
dgv121n71CNV Loss21882294
dgv120n71CNV Loss21882294
nsv871266CNV Loss21882294
dgv122n71CNV Loss21882294
nsv870945CNV Loss21882294
dgv123n71CNV Loss21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 609971    OMIM disorders: --

2 diseases for HES3:    About MalaCards
hypospadias    neuronitis

1 disease from the University of Copenhagen DISEASES database for HES3:
Hypospadias

HES3 for disorders           About GeneDecksing


Export disorders for HES3 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)
About This Section

PubMed articles for HES3 gene integrated from 9 sources:
(articles sorted by number of sources associating them with HES3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
  2. Identification and characterization of human HES2, HES3, and HES5 genes in silico. (PubMed id 15254753)1, 2 Katoh M. and Katoh M. (2004)
  3. Hes3 regulates cell number in cultures from glioblasto ma multiforme with stem cell characteristics. (PubMed id 23393614)1 Park D.M....Androutsellis-Theotokis A. (2013)
  4. Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. (PubMed id 18162467)1 Fukami M.... Ogata T. (2008)
  5. Integrative genomic analyses on HES/HEY family: Notch-independent HES1, HES3 transcription in undifferentiated ES cells, and Notch-dependent HES1, HES5, HEY1, HEY2, HEYL transcription in fetal tissues, adult tissues, or cancer. (PubMed id 17611704)1 Katoh M. and Katoh M. (2007)
  6. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 390992 HGNC: 26226 Ensembl:ENSG00000173673 euGenes: HUgn390992 ECgene: HES3
H-InvDB: HES3

(According to HUGE)
About This Section
  --

(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 HES3 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for HES3 gene:
Search GeneIP for patents involving HES3

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HES3
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 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HES3
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 GenScript Custom Purified and Recombinant Proteins Services for HES3 GenScript cDNA clones with any tag delivered in your preferred vector for HES3
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 Regulatory tfbs in HES3 promoter
 Search Chromatin IP Primers for HES3
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 Search Tocris compounds for HES3
 Browse Sino Biological Proteins and Antibodies
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
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 See all of Abcam's Antibodies, Kits and Proteins for HES3
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 Proteins for HES3
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 Browse SwitchGear 3'UTR luciferase reporter plasmids for HES3
 SwitchGear Promoter luciferase reporter plasmids for HES3
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HES3
 inGenious Targeting Laboratory - Custom generated mouse model solutions for HES3
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Customized:
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 lentivirus expression plasmids for stable overexpression of HES3
 adenovirus for overexpression of HES3
 Search LSBio for Antibodies for HES3
Customized transgenic rodents for:
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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