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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)

See related diseases
at

MalaCards

(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

(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

(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

(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

REFSEQ proteins: NP_005515.1

ENSEMBL proteins:

ENSP00000232424

Reactome Protein details: Q14469
Human Recombinant Protein Products for HES1:

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	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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	ISS	--
GO:0005654	nucleoplasm	TAS	--
GO:0005737	cytoplasm	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

(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

(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: 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity	--	--
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	ISS	--
GO:0003677	DNA binding	TAS	7906273
GO:0003700	sequence-specific DNA binding transcription factor activity	IDA	17681138
GO:0005515	protein binding	IPI	12535671

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:
MGI mouse knock-out Hes1^tm1Fgu for HES1

inGenious Targeting Laboratory - Custom generated mouse model solutions for HES1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 (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

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for HES1
			Sirion Biotech Customized adenovirus for overexpression 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
		Sirion Biotech Customized lentivirus for stable overexpression of HES1 Customized lentivirus expression plasmids for stable overexpression of HES1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HES1
		Search LifeMap BioReagents cell lines for HES1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HES1

(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

SuperPath

Selected contained pathways About (see all per SuperPath)

Notch signaling pathway

	Notch signaling pathway	0.84			Delta-Notch Signaling Pathway	0.33
	Notch Signaling Pathway	0.84

Regulation of beta-cell development

Regulation of beta-cell development

0.56

Maturity onset diabetes of the young

0.56

Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant

Constitutive Signaling by NOTCH1 PEST Domain Mutants	0.89	Signaling by NOTCH1 in Cancer	0.79
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	0.79	Signaling by NOTCH1	0.79
Signaling by NOTCH1 PEST Domain Mutants in Cancer	0.79	Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant	0.79
FBXW7 Mutants and NOTCH1 in Cancer	0.79	Signaling by NOTCH	0.74

NOTCH2 intracellular domain regulates transcription

Signaling by NOTCH2

0.66

NOTCH2 intracellular domain regulates transcription

0.38

Axon guidance

Developmental Biology

0.69

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 Central^TM 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 (Q14469^{1, 2, 3} ENSP00000232424⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 47)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SIRT1	Q96EB6¹^,³, ENSP00000212015⁴	EBI-2832522,EBI-1802965 I2D: score=3 STRING: ENSP00000212015
GAPDH	P04406²^,³, ENSP00000229239⁴	MINT-8256349 I2D: score=2 STRING: ENSP00000229239
CSNK1E	P49674²^,³	MINT-8252769 I2D: score=2
FHL1	Q13642²^,³	MINT-8255415 I2D: score=2
HDAC6	Q9UBN7²^,³	MINT-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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	12032823
GO:0001701	in utero embryonic development	--	--
GO:0001889	liver development	IEA	--
GO:0003143	embryonic heart tube morphogenesis	ISS	--
GO:0003151	outflow tract morphogenesis	ISS	--

HES1 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

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

(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 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

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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
		Sirion Biotech Customized lentivirus for stable overexpression of HES1 Customized lentivirus expression plasmids for stable overexpression of HES1

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

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

(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

About this image

HES1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/24 selected tissues (see all 24) fully expand


Pancreas (Endocrine System) fully expand to see all 11 entries
Duct Progenitor Cells Ventral Pancreatic Bud
Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

Brain (Nervous System) fully expand to see all 6 entries
Adult Oligodendrocyte Precursor Cells Lateral Ventricle
Medulla Oblongata
brain/midbrain

Hair (Integumentary System) fully expand to see all 6 entries
Fetal Inner Root Sheath Cells Inner Root Sheath

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
Early Retinal Progenitor Cells Retinal Neuroblastic Layer
Retina

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 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	Hes1^{1 , 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 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) 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)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs148941464^1,2	C	--	193852633(+)	`CCCGG-/ACACACA`	1	--	us2k¹		0	--	--	--	--
rs200652569^1,2		--	193852651(+)	`CACAC-/ACCCCC`	1	--	us2k¹		0	--	--	--	--
rs115098832^1,2	F	--	193852652(+)	`CACACA/CCCCCA`	1	--	us2k¹		1		WA	118
rs201323213^1,2		--	193852652(+)	`ACACC-/ACCCCA`	1	--	us2k¹		0	--	--	--	--
rs183540789^1,2		--	193853065(+)	`CGCGCC/GGCAGA`	1	--	us2k¹		0	--	--	--	--
rs148185681^1,2		--	193853257(+)	`GAGGAA/CTTTCT`	1	--	us2k¹		0	--	--	--	--
rs187934082^1,2		--	193853290(+)	`TTCAAG/TAACTA`	1	--	us2k¹		0	--	--	--	--
rs73889562^1,2	C,F	--	193853388(+)	`CCTTTA/GCCATC`	1	--	us2k¹		2		WA	120
rs16825120^1,2	F	--	193853536(+)	`AAAAAA/-TATGT`	1	--	us2k¹		2		MN EA	356
rs200025294^1,2	C	--	193853537(+)	`AAAAA-/TATGTT`	1	--	us2k¹		0	--	--	--	--

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

Structural Variations
Database of Genomic Variants (DGV) 4 variations for HES1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv878126	CNV	Loss	21882294
nsv822397	CNV	Gain	20364138
nsv822399	CNV	Gain	20364138
nsv822400	CNV	Gain	20364138

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(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: --

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

HES1 for disorders About GeneDecksing

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

(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 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

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)
HES1 is a novel interactor of the Fanconi anemia core complex. (PubMed id 18550849)^{1, 2, 9} Tremblay C.S....Carreau M. (2008)
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)
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)
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)
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)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
HES-1, a novel target gene for the aryl hydrocarbon receptor. (PubMed id 14722248)^{1, 9} Thomsen J.S....Gustafsson J.A. (2004)
Hes6 promotes cortical neurogenesis and inhibits Hes1 transcription repression activity by multiple mechanisms. (PubMed id 12972610)^{1, 9} Gratton M.O....Stifani S. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(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)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
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.)

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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

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Hairy And Enhancer Of Split 1, (Drosophila)

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Hairy And Enhancer Of Split 1, (Drosophila)

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