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HEY1 Gene

protein-coding   GIFtS: 56

GC08M080838
hairy/enhancer-of-split related with YRPW motif 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
BHLHb31 1, 2
CHF-2 1, 3
CHF2 1, 2, 3
HERP2 1, 2, 3
HESR-1 1, 3
HESR1 1, 2, 3
HRT-1 1, 2
HRT1 3
MGC1274 2
OAF1 2
hHRT1 3
Descriptions
Cardiovascular helix-loop-helix factor 2 2, 3
HES-related repressor protein 1 3
HES-related repressor protein 2 2
Hairy and enhancer of split-related protein 1 3
Hairy-related transcription factor 1 2, 3
basic helix-loop-helix protein OAF1 2
hairy/enhancer-of-split related with YRPW motif 1 2
External Ids
HGNC: 48801
Entrez Gene: 234622
UniProtKB: Q9Y5J33
Ensembl: ENSG000001646837
Search outside databases for aliases for HEY1 gene

Previous GC identifers: GC08M079562 GC08M080724 GC08M080399 GC08M080726

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HEY1 gene  

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)

GeneLoc gene densities for chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M080838:     (about GC identifiers)

Start:
80,838,800 bp from pter
End:
80,842,653 bp from pter
Size:
3,854 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000008.9  NT_008183.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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)
PDB structures from and Proteopedia :
2DB7 (3D)    
Secondary accessions: Q5TZS3 Q9NYP4

REFSEQ proteins (2 alternative transcripts): 
NP_001035798.1  NP_036390.3  


ENSEMBL proteins: 
ENSP00000338272 ENSP00000346761 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (HEY1)
Human Recombinant Proteins from Abnova (HEY1)
               OriGene Purified Recombinant Human Proteins (see all 2): HEY1  

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
About this table

Antibodies for HEY1: 
Browse Antibodies Central at Invitrogen
Millipore Mono- and Polyclonal Antibodies for the study of HEY1
Sigma-Aldrich Antibodies for HEY1
Browse R&D Systems for Antibodies
Antibodies from Abcam (HEY1), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (HEY1)
Novus Biologicals Antibodies for HEY1

Assays for HEY1: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

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

4 InterPro domains/families:
 IPR018352 Orange_subgroup
 IPR001092 HLH_basic
 IPR003650 Orange
 IPR011598 HLH_DNA_bd


   GeneDecks  HEY1 for the domains selected above  
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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 basic helix-loop-helix (bHLH) domain
Similarity: Contains 1 Orange domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HEY1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HEY1)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001040708

              Applied Biosystems Silencer® siRNAs for HEY1

              Sigma-Aldrich siRNA for HEY1  
                     Sigma-Aldrich shRNA for HEY1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for HEY1
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001040708
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001040708
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001040708 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_001040708

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

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

craniofacialembryogenesisgrowth/sizelethality-postnatal
lethality-prenatal/perinatallife span-post-weaning/agingmusclenervous systemnormal

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003700 transcription factor activity TAS10415358
GO:0005515 protein binding IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


2 Millipore Pathways for HEY1
 Development Notch Signaling Pathway
 Transcription factors in neurogenesis

   GeneDecks  HEY1 for the pathways selected above  
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  HEY1  (Your Favorite Gene powered by Ingenuity) 
 Notch Signaling

   GeneDecks  HEY1 for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  HEY1 


5/28 Interacting proteins for HEY1 (ENSP000003382723 Q9Y5J32) via UniProtKB, MINT, and/or STRING (see all 28 )
InteractantInteraction Details
GeneCardExternal ID(s)
LAPTM5Q135712MINT-62172
PRKD2Q9BZL62MINT-61765
SKILP127572MINT-61692
SMAD3P840222MINT-61736
SMAD9O151982MINT-61941
About this table

5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0001570 vasculogenesis IEA--
GO:0006355 regulation of transcription, DNA-dependent IEA--
GO:0007219 Notch signaling pathway IEA--
GO:0007275 multicellular organismal development IEA--
GO:0007399 nervous system development TAS10415358
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HEY1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HEY1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HEY1)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001040708

              Sigma-Aldrich siRNA for HEY1  
                     Sigma-Aldrich shRNA for HEY1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001040708  NM_012258  

REFSEQ mRNAs for HEY1 gene (2 alternative transcripts): 

NM_001040708.1   NM_012258.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001040708  NM_012258  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001040708
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001040708
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001040708 

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 CR598609.1 CR607416.1 CR622924.1 

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 ):

AF151522 AI361962 CR607416 BI491971 AJ272214 AA664017 H41457 CB153638 
AL520694 CR622924 CB044126 BC001873 BX279954 AF311883 BU737949 AI302724 
CR598609 AA974813 AL528481 BI916292 BQ893783 BQ439301 BF062158 AI078800 

highest scoring ESTs for HEY1:

AF151522 AF176422 AF232239 AF254637 AF311883 AI272343 AI829517 AJ272214 AK074641 AL544498 

Unigene Cluster for HEY1:

Hairy/enhancer-of-split related with YRPW motif 1
Hs.234434  [show with all ESTs]
Unigene Representative Sequence: NM_001040708


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for HEY1

2 Ensembl transcripts including schematic representations:
ENST00000337919  ENST00000354724  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

HEY1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for HEY1

1 / 2 / 3

7 probe-sets matching HEY1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
43989_at2, 3 U95-B 1 1.00 1.00 0.96 0.93 AI829517 0.80 1.00 0.91 1
60272_at2, 3 U95-C 1 1.00 1.00 0.88 0.80 X84714 0.60 1.00 0.82 1

44783_s_at2, 3 U133-B 1 1.00 1.00 0.93 1.29 R61374 0.80 1.00 0.91 1

218839_at2, 3 U133-A 1 1.00 1.00 -- -- NM_012258 0.60 1.00 0.82 1

44783_s_at2, 3 U133-A 1 1.00 1.00 -- -- R61374 0.80 1.00 0.91 1

218839_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

44783_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  HEY1 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GAACTGTGGT

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

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for HEY1 gene from 5/10 species (see all 10 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
HEY11   -- hairy/enhancer-of-split related with YRPW motif 1 90.57(n)
95.72(a)
403420  NM_001002953.1  NP_001002953.1 
chimpanzee
(Pan troglodytes)
HEY11   -- hairy/enhancer-of-split related with YRPW motif 1 100(n)
100(a)
464248  XM_519823.2  XP_519823.2 
cow
(Bos taurus)
HEY11   -- hairy/enhancer-of-split related with YRPW motif 1 91.78(n)
95.39(a)
408005  NM_001001172.2  NP_001001172.2 
rat
(Rattus norvegicus)
Hey11   -- hairy/enhancer-of-split related with YRPW motif 1 86.42(n)
91.1(a)
155437  XM_342216.3  XP_342217.3 
mouse
(Mus musculus)
Hey11, 5 3 (2.40 cM)5
hairy/enhancer-of-split related with YRPW motif 11, 5 90.64(n)1
96.32(a)1
152131  NM_010423.21  NP_034553.21 
 AB0415905  AF1515215  (see all 15)
About this table        Species with no ortholog for HEY1

ENSEMBL Gene Tree for HEY1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for HEY1 gene
HEYL2  HELT2  HEY22  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/36 NCBI SNPs in HEY1 are shown (see all 36 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 31)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 8 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs10464721,2
C,F,H,O80839084(-) TGGAAA/CCTGTT 2 -- ut3116Minor allele frequency- N:0.00MN EA NA EU WA 2918
--
rs29797131,2
A,C80844344(+) gtagaA/Gacgag 2 -- ng310--------
rs24677891,2
A,C80839819(+) AAAGAA/TAAAAG 2 -- ut310--------
--
rs115534211,2
H80841492(-) AGATCC/ATGCAG 2 M/L mis1 ese34Minor allele frequency- A:0.00EU EA WA 350
rs37635321,2
H80844163(+) GCTAtT/Cttttt 2 -- ng31 trp31Minor allele frequency- C:0.00EU 118
rs9609781,2
A,C,F,H80841420(+) GCCCCC/AACTAG 2 -- int114Minor allele frequency- A:0.29NS EU EA WA NA 970
--
rs614071231,2
--80844162(+) GCTAT-/CTTTTTTTT
TTTTTTTTTTTT
TTTTT
2 -- ng310--------
--
rs617537151,2
--80840082(+) GTGGAA/GGGAGC 2 F/L mis10--------
rs10623581,2
--80839733(-) ATTGAA/GATAGT 2 -- ut311Minor allele frequency- G:0.00MN 184
--
rs358812911,2
--80842733(+) CGCCGA/CTGATT 2 -- ng310--------
About this table

HapMap Linkage Disequilibrium images for HEY1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 602953

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/30 PubMed articles for HEY1 gene (see all 30 ):
(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, and/or H-InvDB)
About This Section

Entrez Gene: 23462 HGNC: 4880 AceView: HEY1 Ensembl:ENSG00000164683 euGenes: HUgn23462
ECgene: HEY1 H-InvDB: HEY1
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for HEY1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for HEY1-related products

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 Millipore Preclinical / Clinical Development Services
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 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for HEY1 Antibodies for HEY1
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for HEY1 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 shRNA in GFP-retroviral vector
 Search Tocris compounds for HEY1




 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Antibodies for HEY1

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