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EZH1 Gene

protein-coding   GIFtS: 61
GCID: GC17M040852

Enhancer Of Zeste Homolog 1 (Drosophila)

(Previous name: enhancer of zeste (Drosophila) homolog 1)
  See EZH1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Enhancer Of Zeste Homolog 1 (Drosophila)1 2     KMT6B2
ENX-22 3     Histone-Lysine N-Methyltransferase EZH12
EC 2.1.1.433 8     KIAA03883
Enhancer Of Zeste (Drosophila) Homolog 11     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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EZH1 Gene:
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)

GeneCards Summary for EZH1 Gene:
EZH1 (enhancer of zeste homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with EZH1 include weaver syndrome. GO annotations related to this gene include chromatin binding and histone methyltransferase activity (H3-K27 specific). An important paralog of this gene is KMT2D.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   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 plasmidEZH1 promoter sequence
   Search Chromatin IP Primers for EZH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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

Explore proteomics data for EZH1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys736
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for EZH1 (Q92800) (see all 19)
     SFLFNLN  TFIEELI  PNCYAKV  ALNQYSD 


    See EZH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    EZH1 Human Recombinant Protein Products:

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    Novus Biologicals EZH1 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for EZH1

     
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    antibodies-online proteins for EZH1 (3 products) 

     
    antibodies-online peptides for EZH1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KMT: Chromatin-modifying enzymes / K-methyltransferases

    4 InterPro protein domains:
     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 domain: IPB001214 Nuclear protein SET

    UniProtKB/Swiss-Prot: EZH1_HUMAN, Q92800
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. EZ subfamily
    Similarity: Contains 1 CXC domain
    Similarity: Contains 1 SET domain


    Find genes that share domains with EZH1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding ----
    GO:0018024histone-lysine N-methyltransferase activity ----
    GO:0046976histone methyltransferase activity (H3-K27 specific) IEA--
         
    Find genes that share ontologies with EZH1           About GenesLikeMe


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

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ezh1):
     behavior/neurological  cellular  hematopoietic system  immune system  integument 
     mortality/aging  normal 

    Find genes that share phenotypes with EZH1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ezh1tm1Jnw for EZH1

       genOway: Develop your customized and physiologically relevant rodent model for EZH1

    miRNA
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    miRTarBase miRNAs that target EZH1:
    hsa-mir-766-3p (MIRT039043), hsa-mir-93-5p (MIRT028152), hsa-mir-615-3p (MIRT040210), hsa-mir-346 (MIRT042703), hsa-mir-130b-3p (MIRT020281)

    Block miRNA regulation of human, mouse, rat EZH1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidEZH1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EZH1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: EZH1 (NM_001991)
    Sino Biological Human cDNA Clone for EZH1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EZH1
    Addgene plasmids for EZH1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EZH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EZH1_HUMAN, Q92800: Nucleus. Note=Colocalizes with trimethylated 'Lys-27' of histone H3
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with EZH1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including EZH1: 
              Polycomb & Trithorax Complexes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for EZH1

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

    Selected Interacting proteins for EZH1 (Q928003 ENSP000004046584) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    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:    About this table

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

    Find genes that share ontologies with EZH1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    Selected ApexBio Compounds for EZH1 (see all 15)     About this table
    CompoundAction CAS #
    3-Deazaneplanocin,DZNepBlocks EZH2 activity and trimethylation of lysine 27 on histone H3 in vitro[102052-95-9]
    AZ505potent and highly selective inhibitor of the oncogenic protein SMYD2[1035227-43-0]
    BIX 01294BIX-01294 is a small molecule inhibitor of G9a and GLP[935693-62-2]
    ChaetocinHistone methyltransferase SUV39H1 inhibitor[28097-03-2]
    EntacaponeEntacapone inhibits catechol-O-methyltransferase(COMT)[130929-57-6]
    EPZ-6438potent and bio-available inhibitor of EZH2[1403254-99-8 ]
    EPZ004777potent, selective DOT1L inhibitor[1338466-77-5]
    EPZ005687potent inhibitor of EZH2[1396772-26-1]
    EPZ5676potent inhibitor of DOT1L histone methyltransferase[1380288-87-8]
    SGC 0946highly potent and selective DOT1 Lmethyltransferase inhibitor--

    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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
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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
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    Addgene plasmids for EZH1 
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat EZH1
      QuantiFast Probe-based Assays in human, mouse, rat EZH1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 213):

    AI871958 BQ053901 BM794103 AA558573 BM452352 BE045990 AI631983 AA120773 
    BT009782 BM663541 BQ640136 BM794924 CB156704 BC015882 AW025014 BE207408 
    AW295914 BM981861 BM926864 Z40888 CD515973 AA563779 AB002386 CB156691 

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EZH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTTTAAAG
    EZH1 Expression
    About this image

    EZH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EZH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.194669
        Pathway & Disease-focused RT2 Profiler PCR Array including EZH1: 
              Polycomb & Trithorax Complexes in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat EZH1
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EZH1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EZH1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ezh11 , 5 enhancer of zeste homolog 1 (Drosophila)1, 5 90.81(n)1
    97.86(a)1
      11 (64.37 cM)5
    140551  NM_007970.21  NP_031996.11 
     1011911155 
    chicken
    (Gallus gallus)
    Aves EZH11 enhancer of zeste homolog 1 (Drosophila) 81.59(n)
    91.82(a)
      420023  XM_004948622.1  XP_004948679.1 
    lizard
    (Anolis carolinensis)
    Reptilia EZH16
    enhancer of zeste homolog 1 (Drosophila)
    86(a)
    1 ↔ 1
    6(61946557-61977075)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ezh11 enhancer of zeste homolog 1 (Drosophila) 73.45(n)
    80.19(a)
      100493532  XM_002932502.2  XP_002932548.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ezh11 enhancer of zeste homolog 1 (Drosophila) 68.16(n)
    69.41(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
    Protein MES-2 (mes-2) mRNA, complete cds
    24(a)
    1 → many
    II(14383976-14388490) WBGene00003220
    soybean
    (Glycine max)
    eudicotyledons Gma.38512 Transcribed sequence with moderate similarity to protein more 70.77(n)  
    corn
    (Zea mays)
    Liliopsida Zm.103432 Zea mays enhancer of zeste-like protein 1 (mez1) mRNA, more 73.39(n)    AF443596.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EZH1 gene
    KMT2D2  SETD1B2  KMT2C2  KMT2A2  SETD1A2  EZH22  ENSG000002723332  
    1 SIMAP similar gene for EZH1 using alignment to 9 protein entries:     EZH1_HUMAN (see all proteins):
    EZH2

    Find genes that share paralogs with EZH1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EZH1 (see all 832)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs739837451,2
    C--40852519(+) AGCTGG/AGACAG 1 -- ut312Minor allele frequency- A:0.21WA 120
    rs1871891111,2
    --40852600(+) AAAGTG/TTTTTT 1 -- ut310--------
    rs1399854731,2
    --40852664(+) TCTTCA/GTCTTT 1 -- ut310--------
    rs1453981511,2
    C--40852757(+) ACGGCA/GGATGC 1 -- ut310--------
    rs97661,2
    C,F,A,H--40852841(-) ACACAC/TGTACC 1 -- ut31 ese330Minor allele frequency- T:0.44MN NA NS EA WA CSA 3132
    rs1510617731,2
    --40852923(+) GGGTCA/GGGAGG 1 -- ut310--------
    rs1136474961,2
    F--40852964(+) GTGGAG/ATGGGA 1 -- ut312Minor allele frequency- A:0.50CSA 4
    rs72140551,2
    C,F,A,H--40853171(+) CACTCG/CTCTGC 1 -- ut31 ese325Minor allele frequency- C:0.18NA NS EA WA CSA 2364
    rs1176783971,2
    C,F--40853236(+) CCCCTC/TCCTCA 1 -- ut311Minor allele frequency- T:0.02NA 120
    rs1916477681,2
    --40853364(+) CACCAC/GAGCCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for EZH1 (40852293 - 40897071 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for EZH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833450CNV Loss17160897
    esv33998OTHER Inversion15654335

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EZH1
    DNA2.0 Custom Variant and Variant Library Synthesis for EZH1

    (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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    OMIM gene information: 601674    OMIM disorders: --

    1 disease for EZH1:    
    About MalaCards
    weaver syndrome


    Find genes that share disorders with EZH1           About GenesLikeMe

    Genetic Association Database (GAD): EZH1
    Human Genome Epidemiology (HuGE) Navigator: EZH1 (9 documents)

    Export disorders for EZH1 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 EZH1 gene, integrated from 10 sources (see all 22):
    (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. (Genomics 1996)
    2. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    3. Ezh1 and Ezh2 maintain repressive chromatin through different mechanisms. (PubMed id 19026781)1, 2 Margueron R.... Reinberg D. (Mol. Cell 2008)
    4. 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. (Genome Res. 2004)
    5. Cloning and expression of a human/mouse Polycomb group gene, ENX- 2/Enx-2. (PubMed id 9473645)1, 2 Ogawa M.... Aiso S. (Biochim. Biophys. Acta 1998)
    6. 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. (DNA Res. 1997)
    7. Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21. (PubMed id 7490091)1, 2 Rommens J.M.... Simard J. (Genomics 1995)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. PRC2 directly methylates GATA4 and represses its transcriptional activity. (PubMed id 22215809)1 He A....Pu W.T. (amp 2012)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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    HUGE: KIAA0388

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EZH1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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