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

EZH1 Gene

protein-coding   GIFtS: 59
GCID: GC17M040852

enhancer of zeste homolog 1 (Drosophila)

(Previous name: enhancer of zeste (Drosophila) homolog 1 )
 Explore 2 diseases affiliated with
EZH1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EZH1    

Aliases
for EZH1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Enhancer Of Zeste Homolog 1 (Drosophila)1 2     EC 2.1.1.433 8
KMT6B1 2     Enhancer Of Zeste (Drosophila) Homolog 11
KIAA03881 3     Histone-Lysine N-Methyltransferase EZH12
ENX-22 3     Enhancer Of Zeste Homolog 13

External Ids:    HGNC: 35261   Entrez Gene: 21452   Ensembl: ENSG000001087997   OMIM: 6016745   UniProtKB: Q928003   

Export aliases for EZH1 gene to outside databases

Previous GC identifers: GC17M040422 GC17M043016 GC17M040761 GC17M041225 GC17M038105 GC17M036617


Summaries
for EZH1 gene

(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 EZH1:
EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see
MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et
al., 2008 (PubMed 19026780)).(supplied by OMIM, Mar 2009)

UniProtKB/Swiss-Prot: EZH1_HUMAN, Q92800
Function: Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of
histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate
'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell
derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to
EZH1-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays
a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper
differentiation

Gene Wiki entry for EZH1


Genomic Views
for EZH1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EZH1 gene promoter:
         PPAR-gamma1   MAZR   FOXJ2 (long isoform)   c-Myb   FOXJ2   AP-4   CUTL1   PPAR-gamma2   LCR-F1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EZH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for EZH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EZH1


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

Entrez Gene cytogenetic band: 17q21.1-q21.3   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.1-q21.3

EZH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EZH1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M040852:  view genomic region     (about GC identifiers)

Start:
 40,852,293 bp from pter      End:
 40,897,071 bp from pter
Size:
 44,779 bases      Orientation:
 minus strand

Proteins
for EZH1 gene

(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: EZH1_HUMAN, Q92800 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase EZH1  
Size: 747 amino acids; 85271 Da
Subunit: Component of the PRC2/EED-EZH1 complex, which includes EED, EZH1, SUZ12, RBBP4 and AEBP2. The PRC2/EED-EZH1 is
less abundant than the PRC2/EED-EZH2 complex, has weak methyltransferase activity and compacts chromatin in the
absence of the methyltransferase cofactor S-adenosyl-L-methionine (SAM)
Subcellular location: Nucleus. Note=Colocalizes with trimethylated 'Lys-27' of histone H3
Sequence caution: Sequence=BAA20842.2; Type=Erroneous initiation;
Secondary accessions: A6NCH6 B4DIJ1 B4DIZ7 B4DSS2 B4E3R7 O43287 Q14459 Q53XP3
Alternative splicing: 5 isoforms:  Q92800-1   Q92800-2   Q92800-3   Q92800-4   Q92800-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EZH1: NX_Q92800

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92800

    • 4/19 DME Specific Peptides for EZH1 (Q92800) (see all 19)
     SFLFNLN  TFIEELI  PNCYAKV  ALNQYSD 

    EZH1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001982.2  
    ENSEMBL proteins: 
     ENSP00000404658   ENSP00000407869   ENSP00000466924   ENSP00000467036   ENSP00000467871  
     ENSP00000465220   ENSP00000468640   ENSP00000465423   ENSP00000464753   ENSP00000465327  
     ENSP00000466393   ENSP00000467320   ENSP00000465482   ENSP00000404071  

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    Novus Biologicals EZH1 Protein
    Novus Biologicals EZH1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EZH1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0035098ESC/E(Z) complex IDA--


    EZH1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for EZH1

    Protein Domains /
    Families
    for EZH1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EZH1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001214 SET_dom
     IPR001005 SANT/Myb
     IPR021654 EZH2_WD-Binding
     IPR026489 CXC_dom

    Graphical View of Domain Structure for InterPro Entry Q92800

    ProtoNet protein and cluster: Q92800

    1 Blocks protein family: IPB001214 Nuclear protein SET

    UniProtKB/Swiss-Prot: EZH1_HUMAN, Q92800
    Similarity: Belongs to the histone-lysine methyltransferase family. EZ subfamily
    Similarity: Contains 1 CXC domain
    Similarity: Contains 1 SET domain


    Function
    for EZH1 gene

    (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: EZH1_HUMAN, Q92800
    Function: Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of
    histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate
    'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell
    derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to
    EZH1-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays
    a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper
    differentiation
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Genatlas biochemistry entry for EZH1:
    Drosophila enhancer of zeste homolog 1,polycomb group,PcG

    Enzyme Number (IUBMB): EC 2.1.1.431 2

    miRNA
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    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-let-7d hsa-miR-106a hsa-miR-15a hsa-miR-29b-1* hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmid: EZH1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: EZH1
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for EZH1

    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding ----
    GO:0046976histone methyltransferase activity (H3-K27 specific) IEA--


    EZH1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for EZH1:
     Decreased melanin production  Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-out Ezh1tm1Jnw for EZH1
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ezh1):
     behavior/neurological  integument  mortality/aging  normal 

    EZH1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for EZH1 gene

    (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 EZH1

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

    5/45 Interacting proteins for EZH1 (Q928003 ENSP000004046584) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EEDO755303, ENSP000002633604I2D: score=7 STRING: ENSP00000263360
    JARID2Q928333, ENSP000003412804I2D: score=2 STRING: ENSP00000341280
    MTF2Q9Y4833, ENSP000003593214I2D: score=2 STRING: ENSP00000359321
    RBBP4Q090283, ENSP000003625924I2D: score=2 STRING: ENSP00000362592
    E2F6O754613, ENSP000003709364I2D: score=1 STRING: ENSP00000370936
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0009653anatomical structure morphogenesis TAS8921387
    GO:0070734histone H3-K27 methylation ----


    EZH1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EZH1 gene

    (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
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    Browse Tocris compounds for EZH1

    2 HMDB Compounds for EZH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    Search CenterWatch for drugs/clinical trials and news about EZH1 

    Transcripts
    for EZH1 gene

    (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 EZH1 gene: 
    NM_001991.3  

    Unigene Cluster for EZH1:

    Enhancer of zeste homolog 1 (Drosophila)
    Hs.194669  [show with all ESTs]
    Unigene Representative Sequence: NM_001991
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000428826(uc002iaz.3 uc002iba.3 uc010wgt.2 uc010wgu.2 uc010cyp.2)
    ENST00000415827(uc010wgv.2 uc010cyo.1 uc010cyq.2 uc010cys.2)
    ENST00000586714 ENST00000592743 ENST00000588897 ENST00000585893 ENST00000590078
    ENST00000586103 ENST00000585912 ENST00000585550 ENST00000591330 ENST00000590783
    ENST00000589846 ENST00000588239 ENST00000585455 ENST00000586935 ENST00000586382
    ENST00000586867

    miRNA
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    8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate EZH1 (see all 47):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-let-7d hsa-miR-106a hsa-miR-15a hsa-miR-29b-1* hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmid: EZH1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EZH1 (see all 7)
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AB002386.1 AB004818.1 AK295626.1 AK295853.1 AK299887.1 AK304835.1 AK309121.1 AK310399.1 
    AK310556.1 AK311237.1 AL833159.1 BC015882.1 BT009782.1 L38934.1 L38938.1 U50315.1 

    13 DOTS entries:

    DT.451864  DT.100786128  DT.95085592  DT.406267  DT.95186347  DT.102828125  DT.91860862  DT.100023781 
    DT.120923153  DT.95303467  DT.40267111  DT.91861033  DT.97837475 

    24/213 AceView cDNA sequences (see all 213):

    CD515973 AB002386 BM926864 AA563779 Z40888 BM981861 BU726137 W90033 
    AA903681 CB135888 BU150031 NM_001991 AA058822 AI498488 AI675338 W93823 
    BT009782 AI424366 AI635991 AA120773 AA810298 BQ053901 BM663541 BM794103 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for EZH1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a ·
    SP1:                          -                                         -     -                                                                 -               
    SP2:                                                                    -     -                                                                 -               
    SP3:                                                  -     -                                                                                                   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for EZH1

    Expression
    for EZH1 gene

    (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

    EZH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACTTTAAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See EZH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EZH1

    SOURCE GeneReport for Unigene cluster: Hs.194669
        SABiosciences Expression via Pathway-Focused PCR Array including EZH1: 
              Polycomb & Trithorax Complexes in human mouse rat

    Primer
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    In Situ
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    Orthologs
    for EZH1 gene

    (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 eukaryotes.

    Orthologs for EZH1 gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves EZH11 enhancer of zeste homolog 1 (Drosophila) 81.59(n)
    91.82(a)    		   420023  XM_418144.3  XP_418144.2 
    lizard
    (Anolis carolinensis)    		 Reptilia EZH16
    		 --
    		 86(a)
    		 1 ↔ 1
    		 6(61946557-61973344)
    zebrafish
    (Danio rerio)    		 Actinopterygii ezh11 enhancer of zeste homolog 1 (Drosophila) 67.72(n)
    68.78(a)    		   664754  NM_001039983.2  NP_001035072.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta E(z)3 negative regulation of transcription by
    homeotic more    		 50(a)   3 67E5   --
    worm
    (Caenorhabditis elegans)    		 Secernentea mes-26
    		 Histone-lysine N-methyltransferase mes-2
    		 19(a)
    		 possible ortholog
    		 II(14383900-14388414)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons MEA6
    EZA16
    (see all 3)    		 histone-lysine N-methyltransferase EZA1
    (see all 3)    		 25(a)
    22(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 1(544783-549202)
    4(886600-891955)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 SET domain containing protein, expressed
    		 22(a)
    21(a)
    		 many ↔ many
    many ↔ many
    		 6(9352714-9361102)
    3(10950851-10958553)


    ENSEMBL Gene Tree for EZH1 (if available)
    TreeFam Gene Tree for EZH1 (if available) 

    Paralogs
    for EZH1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EZH1 gene
    NSD12  WHSC12  SUV39H22  WHSC1L12  SETDB22  SETD22  SUV39H12  EHMT12  
    EHMT22  EZH22  SETDB12  
    1 SIMAP similar gene for EZH1 using alignment to 9 protein entries:     EZH1_HUMAN (see all proteins):
    EZH2

    EZH1 for paralogs           About GeneDecksing



    Genomic Variants
    for EZH1 gene

    (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

    10/678 NCBI SNPs in EZH1 are shown (see all 678)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1900045491,2
    		--40851939(+) TCCACC/TCTGAA 2 -- ds5001 ut310--------
    rs1144406461,2
    		F,--40851956(+) TTGAGC/GCTGCT 2 -- ut31 ds50011Minor allele frequency- G:0.02WA 118
    rs1496119661,2
    		--40852035(+) GCGTCA/GTGGTT 2 -- ds50010--------
    rs1822827391,2
    		--40852094(+) ATTTCC/TAGAAG 2 -- ds50010--------
    rs1444085711,2
    		--40852245(+) CCCATC/TCCTGG 2 -- ds50010--------
    rs739837441,2
    		C,--40852260(+) TTCCAG/TCCCCA 2 -- ds50012Minor allele frequency- T:0.21WA 120
    rs1487913511,2
    		--40852367(+) GAAGCC/TGCATG 2 -- ut31 ds50010--------
    rs1446405681,2
    		--40852371(+) CCGCAC/TGTATA 2 -- ds5001 ut310--------
    rs1474475961,2
    		--40852421(+) ATGACA/GTGGTG 2 -- ds5001 ut310--------
    rs739837451,2
    		C,--40852519(+) AGCTGG/AGACAG 1 -- ut312Minor allele frequency- A:0.21WA 120

    HapMap Linkage Disequilibrium report for EZH1 (40852293 - 40897071 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for EZH1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EZH1
    DNA2.0 Custom Variant and Variant Library Synthesis for EZH1

    Disorders / Diseases
    for EZH1 gene

    (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
    EZH1 for disorders           About GeneDecksing

    OMIM gene information: 601674    OMIM disorders: --

    2 diseases for EZH1:    About MalaCards
    homocysteine    breast cancer

    Human Genome Epidemiology (HuGE) Navigator: EZH1 (9 documents)

    Export disorders for EZH1 gene to outside databases

    Publications
    for EZH1 gene

    (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 EZH1 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with EZH1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of EZH1, a human homolog of Drosophila Enhancer of zeste near BRCA1. (PubMed id 8921387)1, 2, 3 Abel K.J....Weber B.L. (1996)
    2. Ezh1 and Ezh2 maintain repressive chromatin through different mechanisms. (PubMed id 19026781)1, 2 Margueron R.... Reinberg D. (2008)
    3. 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)
    4. Cloning and expression of a human/mouse Polycomb group gene, ENX- 2/Enx-2. (PubMed id 9473645)1, 2 Ogawa M.... Aiso S. (1998)
    5. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (1997)
    6. Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21. (PubMed id 7490091)1, 2 Rommens J.M.... Simard J. (1995)
    7. PRC2 directly methylates GATA4 and represses its trans criptional activity. (PubMed id 22215809)1 He A....Pu W.T. (2012)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage he ad and neck cancer. (PubMed id 20819778)1 Zhang X....Wu X. (2010)
    10. EZH1 mediates methylation on histone H3 lysine 27 and complements EZH2 in maintaining stem cell identity and executing pluripotency. (PubMed id 19026780)1 Shen X....Orkin S.H. (2008)

    External Searches for EZH1 gene

    (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)

    Genome Databases showing EZH1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2145 HGNC: 3526 AceView: EZH1 Ensembl:ENSG00000108799 euGenes: HUgn2145
    ECgene: EZH1 H-InvDB: EZH1

    Other Databases showing EZH1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0388

    Specialized Databases showing EZH1 gene

    (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 EZH1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for EZH1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for EZH1 gene:
    Search GeneIP for patents involving EZH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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