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

HES3 Gene

protein-coding   GIFtS: 39
GCID: GC01P006304

hairy and enhancer of split 3 (Drosophila)

 Explore 2 diseases affiliated with
HES3 via our new
 Human Malady Compendium 
Biological research products
for HES3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Hairy And Enhancer Of Split 3 (Drosophila)1 2
BHLHb431
Class B Basic Helix-Loop-Helix Protein 432 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

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

HES3 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_001019769.1  
ENSEMBL proteins: 
 ENSP00000367130  

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Uscn Proteins for HES3

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

HES3 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR011598 HLH_dom

Graphical View of Domain Structure for InterPro Entry Q5TGS1

ProtoNet protein and cluster: Q5TGS1

1 Blocks protein family: 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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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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


Animal Models:
     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


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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
PCDH15ENSP000003549504STRING: ENSP00000354950
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, 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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, 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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Inhib. RNA
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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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACAGCGCCG

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
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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In Situ
Assay Products:
 

 
Search Advanced Cell Diagnostics for 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 human and mouse.

Orthologs for HES3 gene from 1/5 species (see all 5)    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 


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
HEYL2  HES42  HES62  HELT2  HEY22  HES72  HEY12  HES52  
HES22  HES12  
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, UniProtKB, 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

10/44 NCBI SNPs in HES3 are shown (see all 44    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 (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for HES3
     1 CNV: 4200

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HES3 for disorders           About GeneDecksing

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

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. 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)
  4. 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)
  5. 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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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About This Section

 
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 Regulatory tfbs in HES3 promoter
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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VWF
(GIFTS: 73)
von Willebrand factor
GIFtS Group
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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