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EHMT1 Gene

protein-coding   GIFtS: 64
GCID: GC09P140513

Euchromatic Histone-Lysine N-Methyltransferase 1

(Previous name: euchromatic histone methyltransferase 1)
  See related diseases
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
Euchromatic Histone-Lysine N-Methyltransferase 11 2 3     Euchromatic Histone Methyltransferase 11
EUHMTASE12 3 5     FP138122
Histone H3-K9 Methyltransferase 52 3     bA188C12.12
Lysine N-Methyltransferase 1D2 3     G9a Like Protein2
Eu-HMTase12 3     Histone-Lysine N-Methyltransferase EHMT12
GLP2 3     Histone-Lysine N-Methyltransferase, H3 Lysine-9 Specific 52
GLP12 3     EC 2.1.1.-3
KMT1D2 3     EC 2.1.1.433
G9a-Like Protein 12 3     KIAA18763
H3-K9-HMTase 52 3     DEL9q345

External Ids:    HGNC: 246501   Entrez Gene: 798132   Ensembl: ENSG000001810907   OMIM: 6070015   UniProtKB: Q9H9B13   

Export aliases for EHMT1 gene to outside databases

Previous GC identifers: GC09P135825 GC09P137881 GC09P139633 GC09P139725 GC09P110067


(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 EHMT1 Gene:
The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses
transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional
repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could
play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric
deletion syndrome (9q-syndrome). Two transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Mar 2009)

GeneCards Summary for EHMT1 Gene:
EHMT1 (euchromatic histone-lysine N-methyltransferase 1) is a protein-coding gene. Diseases associated with EHMT1 include kleefstra syndrome due to 9q34 microdeletion, and kleefstra syndrome. GO annotations related to this gene include methyltransferase activity and histone-lysine N-methyltransferase activity. An important paralog of this gene is NSD1.

UniProtKB/Swiss-Prot: EHMT1_HUMAN, Q9H9B1
Function: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and
H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression
by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also
required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation,
suggesting that these 2 activities function independently. Probably targeted to histone H3 by different
DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of
MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone
methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53

summary for EHMT1 Gene:
Histone methyltransferases (HMTs) are a group of enyzmes that catalyze the transfer of methyl groups from
S-adenosylmethionine (SAM) to histones and are closely related in biological activity to the DNA
methyltransferases. Histone methylation occurs predominantly on the side chains of lysine and arginine
residues in histones H3 and H4, and multiple methyl groups may be added to each residue. Histone
methyltransferases can be subdivided according to their target residue: those which methylate lysine
residues on histone proteins are known as protein lysine methyltransferases (PKMTs) whereas those acting on
arginine residues are known as protein arginine methyltransferases (PRMTs).




(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:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EHMT1 gene promoter:
         p53   ATF-2   Pax-2   Pax-2a   HNF-4alpha1   CRE-BP1   PPAR-gamma1   Pax-2b   c-Myb   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for EHMT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EHMT1


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

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

EHMT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EHMT1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P140513:  view genomic region     (about GC identifiers)

Start:
140,513,444 bp from pter      End:
140,764,468 bp from pter
Size:
251,025 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: EHMT1_HUMAN, Q9H9B1 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase EHMT1  
Size: 1298 amino acids; 141466 Da
Subunit: Heterodimer; heterodimerizes with EHMT2. Interacts with WIZ and EHMT2. Part of the E2F6.com-1 complex in
G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EHMT1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Interacts
(via ANK repeats) with RELA (when monomethylated at 'Lys-310'). Interacts with MPHOSPH8. Interacts with CDYL.
Interacts with REST only in the presence of CDYL. Part of a complex containing at least CDYL, REST, WIZ, SETB1,
EHMT1 and EHMT2
Sequence caution: Sequence=CAD28534.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=CAH71077.1;
Type=Erroneous gene model prediction; Sequence=CAI17354.1; Type=Erroneous gene model prediction;
Selected PDB 3D structures from and Proteopedia for EHMT1 (see all 12):
2IGQ (3D)        2RFI (3D)        3B7B (3D)        3B95 (3D)        3FPD (3D)        3HNA (3D)    
Secondary accessions: B1AQ58 B1AQ59 Q86X08 Q8TCN7 Q96F53 Q96JF1 Q96KH4
Alternative splicing: 4 isoforms:  Q9H9B1-1   Q9H9B1-2   Q9H9B1-3   Q9H9B1-4   

Explore the universe of human proteins at neXtProt for EHMT1: NX_Q9H9B1

Explore proteomics data for EHMT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys239, Lys740, Lys827, Lys890, Lys895
  • Modification sites at PhosphoSitePlus

  • See EHMT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138999.1  NP_079033.4  

    ENSEMBL proteins: 
     ENSP00000417328   ENSP00000417980   ENSP00000436107   ENSP00000334476  
    Reactome Protein details: Q9H9B1

    EHMT1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for EHMT1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for EHMT1
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    Novus Biologicals EHMT1 Proteins
    Novus Biologicals EHMT1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EHMT1

    EHMT1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of EHMT1
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    Novus Biologicals EHMT1 Antibodies
    Abcam antibodies for EHMT1
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    ThermoFisher Antibodies for EHMT1
    LSBio Antibodies in human, mouse, rat for EHMT1

    EHMT1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for EHMT1
    Cloud-Clone Corp. CLIAs for EHMT1


    (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
    ANKRD: Ankyrin repeat domain containing

    5 InterPro protein domains:
     IPR001214 SET_dom
     IPR020683 Ankyrin_rpt-contain_dom
     IPR003606 Pre-SET_Zn-bd_sub
     IPR007728 Pre-SET_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q9H9B1

    ProtoNet protein and cluster: Q9H9B1

    3 Blocks protein domains:
    IPB001214 Nuclear protein SET
    IPB002110 Ankyrin repeat signature
    IPB003606 Nuclear protein Zn2+-binding


    UniProtKB/Swiss-Prot: EHMT1_HUMAN, Q9H9B1
    Domain: The ANK repeats recognize and bind RELA subunit of NF-kappa-B, when RELA is monomethylated at 'Lys-310'
    (By similarity). They also specifically recognize and bind H3K9me1 and H3K9me2
    Domain: The SET domain mediates interaction with WIZ
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily
    Similarity: Contains 8 ANK repeats
    Similarity: Contains 1 pre-SET domain
    Similarity: Contains 1 SET domain


    EHMT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EHMT1_HUMAN, Q9H9B1
    Function: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and
    H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression
    by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also
    required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation,
    suggesting that these 2 activities function independently. Probably targeted to histone H3 by different
    DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of
    MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone
    methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]
    Enzyme regulation: Methyltransferase activity is inhibited by BIX-01294. Efficiently inhibited by compound E72, a
    BIX-01294 derivative in which the diazepane ring and the benzyl are replaced with a 3-dimethylaminopropyl and a
    5-aminopentyl group at sites B and C, respectively

         Enzyme Numbers (IUBMB): EC 2.1.1.431 EC 2.1.1.-1

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002039p53 binding IPI--
    GO:0005515protein binding IPI19061646
    GO:0008168methyltransferase activity IDA12004135
    GO:0008270zinc ion binding IEA--
    GO:0016279protein-lysine N-methyltransferase activity IDA--
         
    EHMT1 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ehmt1):
     behavior/neurological  cardiovascular system  embryogenesis  growth/size/body  mortality/aging 
     nervous system  normal 

    EHMT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EHMT1: Ehmt1tm1.2Tara Ehmt1tm1Yshk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EHMT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EHMT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EHMT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EHMT1

    miRNA
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    miRTarBase miRNAs that target EHMT1:
    hsa-mir-1 (MIRT001369), hsa-mir-484 (MIRT042121), hsa-mir-615-3p (MIRT040045), hsa-mir-125b-5p (MIRT046028), hsa-mir-30e-5p (MIRT044136)

    Block miRNA regulation of human, mouse, rat EHMT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EHMT1 (see all 29):
    hsa-miR-217 hsa-miR-4307 hsa-miR-676 hsa-miR-631 hsa-miR-548k hsa-miR-522 hsa-miR-509-5p hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidEHMT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EHMT1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): EHMT1 (NM_024757)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EHMT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EHMT1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EHMT1


    (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
    EHMT1_HUMAN, Q9H9B1: Nucleus. Chromosome. Note=Associates with euchromatic regions
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005654nucleoplasm TAS--
    GO:0005694chromosome IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    EHMT1 for ontologies           About GeneDecksing


    (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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    SuperPaths for EHMT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cellular Senescence
    Cellular Senescence0.81
    Senescence-Associated Secretory Phenotype (SASP)0.57
    Cellular responses to stress0.81
    2Notch Signaling Pathways
    Notch Signaling Pathways
    3Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for EHMT1
        Notch Signaling Pathways


    1 Reactome Pathway for EHMT1
        Senescence-Associated Secretory Phenotype (SASP)


    1 Kegg Pathway  (Kegg details for EHMT1):
        Lysine degradation


    EHMT1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EHMT1
    Interactions:

        Search GeneGlobe Interaction Network for EHMT1

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

    Selected Interacting proteins for EHMT1 (Q9H9B11, 2, 3 ENSP000004179804) via UniProtKB, MINT, STRING, and/or I2D (see all 610)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006306DNA methylation ISS--
    GO:0009790embryo development ISS--
    GO:0016568chromatin modification IDA12004135
    GO:0016571histone methylation IDA12004135

    EHMT1 for ontologies           About GeneDecksing



    (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 EHMT1 (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--

    Compounds for EHMT1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    UNC 0638Selective G9a and GLP histone lysine methyltransferase inhibitor[1255517-77-1]
    BIX 01294G9a-like protein and G9a histone lysine methyltransferase inhibitor[935693-62-2]
    SGC 0946Highly potent and selective DOT1L inhibitor; cell permeable--
    3-Deazaneplanocin A hydrochlorideHistone methyltransferase inhibitor[120964-45-6]
    UNC 0646Potent and selective G9a/GLP inhibitor[1320288-17-2]

    3 HMDB Compounds for EHMT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    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, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for EHMT1 gene (2 alternative transcripts): 
    NM_001145527.1  NM_024757.4  

    Unigene Cluster for EHMT1:

    Euchromatic histone-lysine N-methyltransferase 1
    Hs.495511  [show with all ESTs]
    Unigene Representative Sequence: NM_024757
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000462484(uc004coa.3) ENST00000460843(uc011mfc.2) ENST00000371394(uc004cob.1)
    ENST00000492232 ENST00000460486 ENST00000495657 ENST00000478940 ENST00000462942
    ENST00000465566 ENST00000493484 ENST00000482340 ENST00000486164 ENST00000488242
    ENST00000483653 ENST00000494249(uc004coe.3) ENST00000475564 ENST00000472849
    ENST00000475704
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    Selected qRT-PCR Assays for microRNAs that regulate EHMT1 (see all 29):
    hsa-miR-217 hsa-miR-4307 hsa-miR-676 hsa-miR-631 hsa-miR-548k hsa-miR-522 hsa-miR-509-5p hsa-miR-3661
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    GenScript: all cDNA clones in your preferred vector (see all 2): EHMT1 (NM_024757)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EHMT1
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat EHMT1
      QuantiFast Probe-based Assays in human, mouse, rat EHMT1

    Additional mRNA sequence: 

    AB028932.1 AF461894.1 AK022941.1 AK309602.1 AL713772.1 AL832865.1 AY083210.1 BC011608.2 
    BC025772.1 BC047504.1 

    17 DOTS entries:

    DT.444464  DT.100754667  DT.97844244  DT.97772087  DT.97773094  DT.100754666  DT.121183747  DT.99929894 
    DT.40228397  DT.75101770  DT.121183727  DT.95320763  DT.99970780  DT.95320741  DT.101956884  DT.121183907 
    DT.95069933 

    Selected AceView cDNA sequences (see all 97):

    BE504570 BQ448180 AW050913 AW206004 BU166398 BF224311 AI637854 CA455304 
    AI521262 AI373044 AW137187 AW512406 AI083699 AI092112 AW339317 AW590136 
    CA426038 BU173683 AW058324 BG757171 AI522003 AI150350 BQ180955 BE350686 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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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    EHMT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATTTTTT
    EHMT1 Expression
    About this image

    EHMT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EHMT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495511

    UniProtKB/Swiss-Prot: EHMT1_HUMAN, Q9H9B1
    Tissue specificity: Widely expressed

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    (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 animals.

    Orthologs for EHMT1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ehmt11 , 5 euchromatic histone methyltransferase 11, 5 84.4(n)1
    89.16(a)1
      2 (16.73 cM)5
    776831  NM_001012518.31  NP_001012536.21 
     247907695 
    chicken
    (Gallus gallus)
    Aves EHMT11 euchromatic histone-lysine N-methyltransferase 1 75.55(n)
    79.22(a)
      417250  NM_001012532.1  NP_001012550.1 
    lizard
    (Anolis carolinensis)
    Reptilia EHMT16
    euchromatic histone-lysine N-methyltransferase 1
    73(a)
    1 ↔ 1
    GL343556.1(368250-426151)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ383427.12   -- 75.75(n)    BQ383427.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ehmt1b1 euchromatic histone-lysine N-methyltransferase 1b 62.12(n)
    60.41(a)
      402830  NM_001172564.1  NP_001166035.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta G9a6
    G9a
    22(a)
    1 → many
    X(140011-148683)


    ENSEMBL Gene Tree for EHMT1 (if available)
    TreeFam Gene Tree for EHMT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EHMT1 gene
    NSD12  ASH1L2  WHSC12  WHSC1L12  SUV39H22  SETBP12  SETDB22  SUV39H12  
    SETD22  EHMT22  SETMAR2  SETDB12  
    12 SIMAP similar genes for EHMT1 using alignment to 2 protein entries:     EHMT1_HUMAN (see all proteins):
    FP13812    SUV39H2    IkBa    EHMT2    PPP1R12A    ZDHHC17
    GABPB1    PSMD10    ANKDD1A    DKFZp761E1322    MTPN    SETMAR

    EHMT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), 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 EHMT1 (see all 4841)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363464
    A breast cancer sample4--see VAR_0363462 Y F mis40--------
    VAR_0691834
    Kleefstra syndrome (KLESTS)4--see VAR_0691832 C Y mis40--------
    VAR_0363454
    A breast cancer sample4--see VAR_0363452 A V mis40--------
    rs1219183011,2
    Cpathogenic1140712552(+) ACGTTC/TGAGAG 2 R * stg10--------
    rs38124971,2
    C,F,A,Huntested1140611436(+) CTGCCT/CGGCCA 4 /P syn1 ese327Minor allele frequency- C:0.20EA NS NA WA EU 10060
    rs11297671,2
    C,F,A,Huntested1140638416(+) GACTCG/AGATGA 4 /S syn1 ese323Minor allele frequency- A:0.13NS EA NA EU 7075
    rs11297681,2
    C,F,Auntested1140638461(+) CATGGA/C/G/
            
    GCAGA
    4 G syn1 ese317NA WA CSA EA EU 6132
    rs454509921,2
    C,Funtested1140648742(+) GCCCTC/TGGTAA 4 L syn16Minor allele frequency- T:0.08NA NS WA EU 5624
    rs789093681,2
    C,F--140515483(+) GGCCCA/GAGATT 2 -- int11Minor allele frequency- G:0.06WA 118
    rs1132288101,2
    C--140515504(+) TGGCCA/CAGAAG 2 -- int10--------

    HapMap Linkage Disequilibrium report for EHMT1 (140513444 - 140763444 bp, first 250kb of EHMT1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EHMT1 (see all 41):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739460CNV Deletion23290073
    esv1512111CNV Deletion17803354
    esv2739466CNV Deletion23290073
    esv2671219CNV Deletion23128226
    esv2739467CNV Deletion23290073
    esv2739465CNV Deletion23290073
    esv2517463CNV Deletion19546169
    esv2312884CNV Deletion18987734
    esv2739462CNV Deletion23290073
    esv2739463CNV Deletion23290073

    Human Gene Mutation Database (HGMD): EHMT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EHMT1
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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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    OMIM gene information: 607001   
    OMIM disorders: 610253  
    UniProtKB/Swiss-Prot: EHMT1_HUMAN, Q9H9B1
  • Kleefstra syndrome (KLESTS) [MIM:610253]: A syndrome characterized by severe mental retardation,
    hypotonia, brachy(micro)cephaly, and facial dysmorphisms. Additionally, congenital heart defects, urogenital
    defects, epilepsy and behavioral problems are frequently observed. Note=The disease is caused by mutations
    affecting the gene represented in this entry (PubMed:16826528). The syndrome can be either caused by intragenic
    EHMT1 mutations leading to haploinsufficiency of the EHMT1 gene or by a submicroscopic 9q34.3 deletion. Although
    it is not known if and to what extent other genes in the 9q34.3 region contribute to the syndrome observed in
    deletion cases, EHMT1 seems to be the major determinant of the core disease phenotype (PubMed:19264732)

  • 17 diseases for EHMT1:    
    About MalaCards
    kleefstra syndrome due to 9q34 microdeletion    kleefstra syndrome    kleefstra syndrome due to a point mutation    macroglossia
    hypotonia    intellectual disability    fanconi's anemia    mental retardation
    breast and colorectal cancer    esophagitis    colorectal cancer    adenocarcinoma
    schizophrenia    hiv-1    breast cancer    multiple myeloma
    myeloma

    1 disease from the University of Copenhagen DISEASES database for EHMT1:
    Intellectual disability

    EHMT1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): EHMT1
    Human Genome Epidemiology (HuGE) Navigator: EHMT1 (8 documents)

    Export disorders for EHMT1 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 EHMT1 gene, integrated from 10 sources (see all 72):
    (articles sorted by number of sources associating them with EHMT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A complex with chromatin modifiers that occupies E2F- and Myc- responsive genes in G0 cells. (PubMed id 12004135)1, 2, 3 Ogawa H.... Nakatani Y. (Science 2002)
    2. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2001)
    3. G9a and Glp methylate lysine 373 in the tumor suppressor p53. (PubMed id 20118233)1, 2, 9 Huang J.... Berger S.L. (J. Biol. Chem. 2010)
    4. The ankyrin repeats of G9a and GLP histone methyltransferases are mono-and dimethyllysine binding modules. (PubMed id 18264113)1, 2, 9 Collins R.E.... Cheng X. (Nat. Struct. Mol. Biol. 2008)
    5. Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up. (PubMed id 21041608)1, 4 van Winkel R. (Arch. Gen. Psychiatry 2011)
    6. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    7. Structural biology of human H3K9 methyltransferases. (PubMed id 20084102)1, 2 Wu H.... Schapira M. (PLoS ONE 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    10. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. (PubMed id 19264732)1, 2 Kleefstra T.... Brunner H.G. (J. Med. Genet. 2009)

    (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: 79813 HGNC: 24650 AceView: EHMT1.1 Ensembl:ENSG00000181090 euGenes: HUgn79813
    ECgene: EHMT1 Kegg: 79813 H-InvDB: EHMT1

    (According to HUGE)
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    HUGE: KIAA1876

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for EHMT1 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 EHMT1 gene:
    Search GeneIP for patents involving EHMT1

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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