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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HEY1 Gene

protein-coding GIFtS: 59
GCID: GC08M080676

hairy/enhancer-of-split related with YRPW motif 1

Explore 5 diseases affiliated with
HEY1 via

MalaCards

our new
Human Malady Compendium

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

Aliases
Hairy/Enhancer-Of-Split Related With YRPW Motif 1¹ ²		Hairy-Related Transcription Factor 1² ³
CHF2¹ ² ³		HHRT1¹
HERP2¹ ² ³		HES-Related Repressor Protein 1² ³
HESR1¹ ² ³		OAF1²
HRT-1¹ ² ³		Basic Helix-Loop-Helix Protein OAF1²
BHLHb31¹ ²		Hairy/Enhancer-Of-Split Related With YRPW Motif Protein 1²
CHF-2¹ ³		HES-Related Repressor Protein 2²
HESR-1¹ ³		BHLHB31³
Cardiovascular Helix-Loop-Helix Factor 2² ³		HRT1³
Class B Basic Helix-Loop-Helix Protein 31² ³		BHLHb31¹ ²
Hairy And Enhancer Of Split-Related Protein 1² ³

External Ids:	HGNC: 4880¹	Entrez Gene: 23462²	Ensembl: ENSG00000164683⁷	OMIM: 602953⁵	UniProtKB: Q9Y5J3³

Export aliases for HEY1 gene to outside databases

Previous GC identifers: GC08M079562 GC08M080724 GC08M080399 GC08M080726 GC08M080838 GC08M076165

(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 HEY1:

This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic

helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun

signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular

development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple

transcript variants. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: HEY1_HUMAN, Q9Y5J3

Function: Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional

repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the

cardiac transcriptional activators GATA4 and GATA6

Gene Wiki entry for HEY1

(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_000008.10 NC_018919.1 NT_008183.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HEY1 gene promoter:
p53 AP-1 ATF-2 C/EBPalpha Evi-1 GATA-1 Max c-Jun c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HEY1 promoter sequence

Search SABiosciences Chromatin IP Primers for HEY1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEY1

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

Entrez Gene cytogenetic band: 8q21 Ensembl cytogenetic band: 8q21.13 HGNC cytogenetic band: 8q21

HEY1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEY1 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M080676: view genomic region (about GC identifiers)

Start:	80,676,245 bp from pter	End:	80,680,098 bp from pter
Size:	3,854 bases	Orientation:	minus 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: HEY1_HUMAN, Q9Y5J3 (See protein sequence)

Recommended Name: Hairy/enhancer-of-split related with YRPW motif protein 1

Size: 304 amino acids; 32613 Da

Subunit: Self-associates (By similarity). Interacts with HES1 and HEYL (By similarity). Interacts with HDAC1, NCOR1 and

SIN3A (By similarity). Interacts with GATA4 and GATA6 (By similarity). Interacts with CCDC89/BOIP (By similarity)

Subcellular location: Nucleus (By similarity)

1 PDB 3D structure from and Proteopedia for HEY1:

2DB7 (3D)

Secondary accessions: B2R883 Q5TZS3 Q8NAM2 Q9NYP4

Alternative splicing: 2 isoforms: Q9Y5J3-1 Q9Y5J3-2

Explore the universe of human proteins at neXtProt for HEY1: NX_Q9Y5J3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y5J3

HEY1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001035798.1 NP_036390.3

ENSEMBL proteins:

ENSP00000346761 ENSP00000338272 ENSP00000429792 ENSP00000429705 ENSP00000445025

Reactome Protein details: Q9Y5J3
Human Recombinant Protein Products for HEY1:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: HEY1 OriGene Protein Over-expression Lysate (see all 2): HEY1 OriGene Custom Protein Services for HEY1
	GenScript Custom Purified and Recombinant Proteins Services for HEY1
	Novus Biologicals HEY1 Proteins Novus Biologicals HEY1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for HEY1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	ISS	--
GO:0005737	cytoplasm	ISS	--

HEY1 for ontologies About GeneDecksing

HEY1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of HEY1
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	GenScript Custom Superior Antibodies Services for HEY1
	Novus Biologicals HEY1 Antibodies
	Abcam antibodies for HEY1
	Uscn Antibodies for HEY1
	ThermoFisher Antibodies for HEY1

Assay Products for HEY1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for HEY1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for HEY1

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

HEY1 for domains About GeneDecksing

3 InterPro domains/families:

IPR018352 Orange_subgr

IPR003650 Orange

IPR011598 HLH_dom

Graphical View of Domain Structure for InterPro Entry Q9Y5J3

ProtoNet protein and cluster: Q9Y5J3

2 Blocks protein families:

IPB001092 Basic helix-loop-helix dimerization domain bHLH

IPB003650 Orange

UniProtKB/Swiss-Prot: HEY1_HUMAN, Q9Y5J3

Similarity: Belongs to the HEY family

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, 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 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: HEY1_HUMAN, Q9Y5J3

Function: Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional

repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the

cardiac transcriptional activators GATA4 and GATA6

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000983	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity	ISS	--
GO:0000988	protein binding transcription factor activity	IDA	--
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IDA	15485867
GO:0005515	protein binding	IPI	10692439

HEY1 for ontologies About GeneDecksing

Phenotypes:
9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Hey1):

cardiovascular system	cellular	craniofacial	embryogenesis	growth/size
mortality/aging	muscle	nervous system	normal

HEY1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Hey1^tm1Kkb for HEY1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HEY1

miRNA Products:		OriGene 3'-UTR Clone (see all 2): HEY1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HEY1
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate HEY1 (see all 11):
		hsa-miR-320a hsa-miR-505 hsa-miR-140-5p hsa-miR-520d-5p hsa-miR-196a* hsa-miR-320d hsa-miR-320b hsa-miR-1207-3p

		SwitchGear 3'UTR luciferase reporter plasmid: HEY1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HEY1 (see all 3) OriGene siRNA: HEY1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEY1
		Sirion Biotech Custom design and validation of potent shRNA sequences against HEY1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for HEY1
			Sirion Biotech Customized adenovirus for overexpression of HEY1 Sirion Biotech Customized adenovirus for potent knockdown of HEY1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEY1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEY1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): HEY1 (NM_012258)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEY1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEY1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HEY1
		Search LifeMap BioReagents cell lines for HEY1
		Sirion Biotech Customized stable knockdown cell line services for HEY1 Sirion Biotech Customized inducible knockdown cell line services for HEY1 Sirion Biotech Customized stable overexpressing cell line services for HEY1 Sirion Biotech Customized inducible overexpressing cell line services for HEY1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEY1

(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

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant

8/12 pathways (see all 12)
Signaling by NOTCH1 PEST Domain Mutants in Cancer	1.00	Signaling by NOTCH1	1.00
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	1.00	Constitutive Signaling by NOTCH1 PEST Domain Mutants	0.79
Signaling by NOTCH1 in Cancer	1.00	Signaling by NOTCH	0.77
Signaling by NOTCH1 HD Domain Mutants in Cancer	1.00	NOTCH1 Intracellular Domain Regulates Transcription	0.65

Development_Notch Signaling Pathway

Development_Notch Signaling Pathway

1.00

Development Notch Signaling Pathway

0.97

Disease

Disease

1.00

Transcription factors in neurogenesis

Transcription factors in neurogenesis

1.00

Heart Development

Heart Development

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for HEY1

	Development Notch Signaling Pathway
	Transcription factors in neurogenesis

1 GeneGo (Thomson Reuters) Pathway for HEY1

Development Notch Signaling Pathway

3 BioSystems Pathways for HEY1

	Heart Development
	Delta-Notch Signaling Pathway
	Notch-mediated HES/HEY network

5/14 Reactome Pathways for HEY1 (see all 14)

	NOTCH1 Intracellular Domain Regulates Transcription
	Signaling by NOTCH
	NOTCH1 PEST domain mutants stimulate HEY transcription
	FBXW7 Mutants and NOTCH1 in Cancer
	NOTCH1 stimulates HEY transcription

HEY1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HEY1

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

5/32 Interacting proteins for HEY1 (Q9Y5J3^{2, 3} ENSP00000338272⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 32)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD3	P84022²^,³, ENSP00000332973⁴	MINT-61736 I2D: score=3 STRING: ENSP00000332973
LAPTM5	Q13571²^,³	MINT-62172 I2D: score=3
PRKD2	Q9BZL6²^,³	MINT-61765 I2D: score=2
SKIL	P12757²^,³, ENSP00000259119⁴	MINT-61692 I2D: score=3 STRING: ENSP00000259119
SMAD9	O15198²^,³, ENSP00000369154⁴	MINT-61941 I2D: score=3 STRING: ENSP00000369154

About this table

Gene Ontology (GO): 5/33 biological process terms (GO ID links to tree view) (see all 33): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	11486045
GO:0001525	angiogenesis	IEP	11866539
GO:0001568	blood vessel development	--	--
GO:0001570	vasculogenesis	IEA	--
GO:0002076	osteoblast development	IEA	--

HEY1 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 HEY1
Search CenterWatch for drugs/clinical trials and news about HEY1

(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, 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 HEY1 gene (2 alternative transcripts):

NM_001040708.1 NM_012258.3

Unigene Cluster for HEY1:

Hairy/enhancer-of-split related with YRPW motif 1

Hs.234434 [show with all ESTs]

Unigene Representative Sequence: NM_001040708

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000354724(uc010lzq.3 uc003ybm.3) ENST00000337919(uc003ybl.3)

ENST00000435063 ENST00000523976 ENST00000518733 ENST00000521111 ENST00000519075

ENST00000523531 ENST00000542205

miRNA Products:		OriGene 3'-UTR Clone (see all 2): HEY1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HEY1
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate HEY1 (see all 11):
		hsa-miR-320a hsa-miR-505 hsa-miR-140-5p hsa-miR-520d-5p hsa-miR-196a* hsa-miR-320d hsa-miR-320b hsa-miR-1207-3p

		SwitchGear 3'UTR luciferase reporter plasmid: HEY1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEY1
		Sirion Biotech Custom design and validation of potent shRNA sequences against HEY1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEY1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEY1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): HEY1 (NM_012258)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEY1
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HEY1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEY1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEY1

Additional cDNA sequence:

AF151522.1 AF176422.1 AF232239.1 AF254637.1 AF311883.1 AJ272214.1 AK074641.1 AK226041.1

AK293646.1 AK307622.1 AK313271.1 BC001873.1 BT020065.1

8 DOTS entries:

DT.453681 DT.100755163 DT.100755165 DT.100755167 DT.100755164 DT.121474397 DT.121474401 DT.121474406

24/133 AceView cDNA sequences (see all 133):

BF062158 BU737949 AA974813 AF311883 CB044126 CB153638 BX279954 AI302724

AJ272214 AL544498 AI361962 CR598609 BQ893783 BC001873 BI916292 BI491971

AI078800 CR607416 AL528481 AA664017 BQ439301 AF151522 AI279154 H41457

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for HEY1 About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3a	·	3b	·	3c	^	4	^	5	^	6a	·	6b	·	6c	·	6d
SP1:							-						-		-				-
SP2:							-								-				-
SP3:													-		-				-
SP4:							-
SP5:

ECgene alternative splicing isoforms for HEY1

(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

HEY1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAACTGTGGT

About this image

HEY1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Cardinal Veins

Venous Endothelial Cells

Endothelium

Cartilage

Cervical Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Lumbar Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Sacral Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Thoracic Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Lateral Plate Mesoderm

Paired Dorsal Aorta

Arterial endothelial cells

Endothelium

Pancreas

Dorsal Pancreatic Bud

Bipotent Endocrine/Duct Progenitor Cells

Pancreas

Ventral Pancreatic Bud

Bipotent Endocrine/Duct Progenitor Cells

Pancreas

Cartilage

Endocardial Tube Cells

Endocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/14 LifeMap Cells (see all 14)

Name

Category

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

N2/LSB/S/F8-induced cells (Generation of midbra...)

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

See HEY1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HEY1

SOURCE GeneReport for Unigene cluster: Hs.234434

UniProtKB/Swiss-Prot: HEY1_HUMAN, Q9Y5J3

Tissue specificity: Expressed in the somitic mesoderm, the central nervous system, the kidney, the heart, nasal

epithelium, and limbs

SABiosciences Expression via Pathway-Focused PCR Arrays including HEY1 (see all 7):

Notch Signaling Targets in human mouse rat

Neurogenesis in human mouse rat

Angiogenic Growth Factors in human mouse rat

TGFB Signaling Targets in human mouse rat

Polycomb & Trithorax Target Genes in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HEY1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HEY1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEY1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEY1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEY1

(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 HEY1 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HEY1¹	hairy/enhancer-of-split related with YRPW motif 1	78.35(n) 89.76(a)		428365 XM_425926.3 XP_425926.3
lizard (Anolis carolinensis)	Reptilia	HEY1⁶	--	82(a)	1 ↔ 1	4(25153734-25159192)
African clawed frog (Xenopus laevis)	Amphibia	Xl.469²	Xenopus laevis mRNA for bHLH protein Hesr-1/Hey1 (xbc8 more	80.83(n)		AJ401271.1
zebrafish (Danio rerio)	Actinopterygii	Dr.19915²	Danio rerio mRNA for basic helix-loop-helix transcription more	77.27(n)		AJ510221.1
fruit fly (Drosophila melanogaster)	Insecta	Hey³	transcription factor	61(a)		44A2 --

ENSEMBL Gene Tree for HEY1 (if available)
TreeFam Gene Tree for HEY1 (if available)

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

Paralogs for HEY1 gene

HEYL² HES4² HES6² HELT² HEY2² HES7² HES3² HES5²

HES2² HES1²

4 SIMAP similar genes for HEY1 using alignment to 3 protein entries: HEY1_HUMAN (see all proteins):

OAF1 HEY2 HEYL HES4

HEY1 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)
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SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs148335409^1,2		--	80675751(+)	`ACAGCC/TTGCCA`	2	--	ds500¹		0	--	--	--	--
rs34219173^1,2	C	--	80675817(+)	`CATTT-/AAAAAA`	2	--	ds500¹		1		CSA	2
rs187409728^1,2		--	80675829(+)	`ATTAAG/TAAAAG`	2	--	ds500¹		0	--	--	--	--
rs114360122^1,2	C,F	--	80675882(+)	`AGGTAC/TTCTCA`	2	--	ds500¹		1		WA	118
rs189034231^1,2		--	80676050(+)	`TGTAGA/GAGGCA`	2	--	ds500¹		0	--	--	--	--
rs3833691^1,2	C	--	80676259(+)	`CTTTC-/TTTTTT`	2	--	ut3¹ trp³		0	--	--	--	--
rs199651833^1,2		--	80676265(+)	`TTTTT-/ATTTAG`	2	--	ut3¹		0	--	--	--	--
rs146242930^1,2		--	80676270(+)	`ATTTAA/GTCACA`	2	--	ut3¹		0	--	--	--	--
rs181029649^1,2		--	80676337(+)	`TGCTAA/CAAGAA`	2	--	ut3¹		0	--	--	--	--
rs185612685^1,2		--	80676369(+)	`TATAGA/CCCAAA`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HEY1 (80676245 - 80680098 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HEY1: --
Human Gene Mutation Database (HGMD): HEY1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEY1

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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.)
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HEY1 for disorders           About GeneDecksing

OMIM gene information: 602953    OMIM disorders: --

5 diseases for HEY1:    About MalaCards

kaposi's sarcoma pulmonary fibrosis sarcoma fibrosis

retinitis

Human Genome Epidemiology (HuGE) Navigator: HEY1 (2 documents)

Export disorders for HEY1 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 HEY1 gene, integrated from 9 sources (see all 47):
(articles sorted by number of sources associating them with HEY1)

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Hey genes: a novel subfamily of hairy- and enhancer of split related genes specifically expressed during mouse embryogenesis. (PubMed id 10415358)^{1, 2, 3} Leimeister C.... Gessler M. (1999)
Identification and expression of a novel family of bHLH cDNAs related to Drosophila hairy and enhancer of split. (PubMed id 10403790)^{1, 2, 3} Kokubo H....Johnson R.L. (1999)
Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family. (PubMed id 10860664)^{1, 2, 9} Steidl C....Gessler M. (2000)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Hairy-related transcription factors inhibit GATA-dependent cardiac gene expression through a signal-responsive mechanism. (PubMed id 15485867)^{1, 2} Kathiriya I.S.... Nakagawa O. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling. (PubMed id 11095750)^{1, 2} Nakagawa O.... Olson E.N. (2000)
Cardiovascular basic helix loop helix factor 1, a novel transcriptional repressor expressed preferentially in the developing and adult cardiovascular system. (PubMed id 10692439)^{1, 2} Chin M.T.... Lee M.-E. (2000)
HEY1 Leu94Met gene polymorphism dramatically modifies its biological functions. (PubMed id 19802006)^{1, 9} Villaronga M.A....Belandia B. (2010)
HERP, a new primary target of Notch regulated by ligand binding. (PubMed id 11486044)^{1, 9} Iso T.... Hamamori Y. (2001)

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

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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: 23462	HGNC: 4880	AceView: HEY1	Ensembl:ENSG00000164683	euGenes: HUgn23462
ECgene: HEY1	H-InvDB: HEY1

(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 HEY1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for HEY1 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 HEY1 gene:
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GeneCards and IP:
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HEY1 Gene

hairy/enhancer-of-split related with YRPW motif 1

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HEY1 (Gene Symbol)
Hairy/Enhancer-Of-Split Related With YRPW Motif 1
CHF2
HERP2
HESR1
HRT-1
BHLHb31
CHF-2
HESR-1
Cardiovascular Helix-Loop-Helix Factor 2
Class B Basic Helix-Loop-Helix Protein 31
Hairy And Enhancer Of Split-Related Protein 1
Hairy-Related Transcription Factor 1
HHRT1
HES-Related Repressor Protein 1
OAF1
Basic Helix-Loop-Helix Protein OAF1
Hairy/Enhancer-Of-Split Related With YRPW Motif Protein 1
HES-Related Repressor Protein 2
BHLHB31
HRT1
BHLHb31

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HEY1 Gene

hairy/enhancer-of-split related with YRPW motif 1

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