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

EHMT1 Gene

protein-coding   GIFtS: 62
GCID: GC09P140513

euchromatic histone-lysine N-methyltransferase 1

(Previous name: euchromatic histone methyltransferase 1 )
 Explore 11 diseases affiliated with
EHMT1 via our new
 Human Malady Compendium 
Biological research products
for EHMT1
    

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

Aliases
Euchromatic Histone-Lysine N-Methyltransferase 11 2 3     H3-K9-HMTase 52 3
Eu-HMTase11 2 3     FLJ128791
KMT1D1 2 3     Euchromatic Histone Methyltransferase 11
EUHMTASE12 3 5     FP138122
BA188C12.11     G9a Like Protein2
KIAA18761 3     Histone-Lysine N-Methyltransferase EHMT12
Histone H3-K9 Methyltransferase 52 3     Histone-Lysine N-Methyltransferase, H3 Lysine-9 Specific 52
Lysine N-Methyltransferase 1D2 3     EC 2.1.1.-3
GLP2 3     EC 2.1.1.433
GLP12 3     DEL9q345
G9a-Like Protein 12 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EHMT1:
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)

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




(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_000009.11  NC_018920.1  NT_024000.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EHMT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 chromosome: 9

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, 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: EHMT1_HUMAN, Q9H9B1 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase EHMT1  
Size: 1298 amino acids; 141466 Da
Subunit: Heterodimer; heterodimerizes with EHMT2/G9a. 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
Subcellular location: Nucleus. Chromosome. Note=Associates with euchromatic regions
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;
6/12 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H9B1

  • EHMT1 Protein expression data from MOPED and PaxDb:    About this image 
    EHMT1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001138999.1  NP_079033.4  

    ENSEMBL proteins: 
     ENSP00000417328   ENSP00000417980   ENSP00000436107   ENSP00000334476  

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    OriGene Protein Over-expression Lysate: EHMT1
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    Novus Biologicals EHMT1 Proteins
    Novus Biologicals EHMT1 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EHMT1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005694chromosome IEA--

    EHMT1 for ontologies           About GeneDecksing



    EHMT1 Antibody Products: 
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    Uscn ELISAs and CLIAs for EHMT1


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

    EHMT1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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 histone-lysine methyltransferase family
    Similarity: Contains 8 ANK repeats
    Similarity: Contains 1 pre-SET domain
    Similarity: Contains 1 SET domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

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


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ehmt1):
     behavior/neurological  embryogenesis  growth/size  mortality/aging  nervous system 

    EHMT1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for EHMT1: Ehmt1tm1.2Tara Ehmt1tm1Yshk
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for EHMT1 

    miRNA
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    miRTarBase miRNAs that target EHMT1:
    hsa-mir-1 (MIRT001369)

    OriGene 3'-UTR Clone (see all 2): EHMT1
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EHMT1
    8/29 QIAGEN miScript miRNA 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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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EHMT1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysine degradation
    Lysine degradation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



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


    EHMT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EHMT1

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

    5/568 Interacting proteins for EHMT1 (Q9H9B11, 2, 3 ENSP000004179804) via UniProtKB, MINT, STRING, and/or I2D (see all 568)
    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): 5/11 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 (HMTase) inhibitor[935693-62-2]

    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--
    Search CenterWatch for drugs/clinical trials and news about EHMT1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
    18/19 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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    8/29 QIAGEN miScript miRNA 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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    Additional cDNA 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.97773094  DT.97772087  DT.100754666  DT.121183747  DT.99929894 
    DT.40228397  DT.75101770  DT.121183727  DT.95320763  DT.99970780  DT.95320741  DT.101956884  DT.121183907 
    DT.95069933 

    24/97 AceView cDNA sequences (see all 97):

    AI522003 AI637854 BQ647702 AW590136 BG757171 BF224311 BU173683 BU185654 
    BE350686 AI373044 BE504570 CA426038 AI083699 AI092112 AW137187 AW512406 
    BQ180955 BG149933 AI150350 BQ448180 AW206004 AI521262 BU166398 AW339317 

    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™, 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

    EHMT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTATTTTTT
    EHMT1 Expression
    About this image
    See EHMT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EHMT1

    SOURCE GeneReport for Unigene cluster: Hs.495511

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

        SABiosciences Custom PCR Arrays for EHMT1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EHMT1

    (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 EHMT1 gene from 7/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves EHMT11 euchromatic histone-lysine N-methyltransferase 1 75.53(n)
    79.06(a)
      417250  NM_001012532.1  NP_001012550.1 
    lizard
    (Anolis carolinensis)
    Reptilia EHMT16
    --
    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 61.83(n)
    59.74(a)
      402830  NM_001172564.1  NP_001166035.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta G9a6
    G9a
    19(a)
    1 → many
    X(140011-148683)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G471506
    AT5G471606
    (see all 12)
    YDG/SRA domain-containing protein
    (see all 12)
    7(a)
    6(a)
    (see all 12)
    possible ortholog
    possible ortholog
    (see all 12)
    5(19150045-19151793)
    5(19156731-19157978)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 15)
    YDG/SRA domain containing protein, expressed
    (see all 15)
    9(a)
    4(a)
    (see all 15)
    possible ortholog
    possible ortholog
    (see all 15)
    8(19082792-19086784)
    8(19041037-19044346)


    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)
    About This Section
    Paralogs for EHMT1 gene
    NSD12  EZH12  WHSC12  SUV39H22  WHSC1L12  SETDB22  SETD22  SUV39H12  
    EHMT22  EZH22  SETDB12  
    12 SIMAP similar genes for EHMT1 using alignment to 2 protein entries:     EHMT1_HUMAN (see all proteins):
    FP13812    EHMT2    SUV39H2    IkBa    PPP1R12A    ZDHHC17
    GABPB1    PSMD10    ANKDD1A    DKFZp761E1322    MTPN    SETMAR

    EHMT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4178 NCBI SNPs in EHMT1 are shown (see all 4178    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38124971,2
    C,F,A,Hnon-pathogenic140611436(+) CTGCCT/CGGCCA 4 /P syn1 ese327Minor allele frequency- C:0.20EA NS NA WA EU 10060
    rs11297671,2
    C,F,A,Hnon-pathogenic140638416(+) GACTCG/AGATGA 4 /S syn1 ese323Minor allele frequency- A:0.13NS EA NA EU 7075
    rs11297681,2
    C,F,Anon-pathogenic140638461(+) CATGGA/C/G/
            
    GCAGA
    8 G syn1 ese317NA WA CSA EA EU 6132
    rs454509921,2
    C,Fnon-pathogenic140648742(+) GCCCTC/TGGTAA 4 L syn16Minor allele frequency- T:0.08NA NS WA EU 5624
    rs1219183011,2
    Cpathogenic140712552(+) ACGTTC/TGAGAG 2 R * stg10--------
    rs1132370721,2
    C--110139885(+) GTGGTG/CATGAC 1 -- int12Minor allele frequency- C:0.05WA 120
    rs735781041,2
    C,F--110143064(+) CCTGTC/GAGTCT 1 -- ds50013Minor allele frequency- G:0.20WA 122
    rs736691781,2
    C--110143830(+) GAGCCC/TGTGAG 1 -- nc-transcript-variant2Minor allele frequency- T:0.18WA 120
    rs769401071,2
    C--110143855(-) CCTCAC/TGGGCT 1 -- nc-transcript-variant1Minor allele frequency- T:0.50WA 2
    rs748165071,2
    C--110143963(+) TTCTTG/TAAGAC 1 -- nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for EHMT1 (140513444 - 140763444 bp, first 250kb of EHMT1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 14 variations for EHMT1
         9 CNVs: 36936 36932 36933 36937 100812 36934 36935 70852 100813
         5 Indels: 47679 70851 29113 47681 47680
    Human Gene Mutation Database (HGMD): 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.)
    About This Section

    EHMT1 for disorders           About GeneDecksing

    OMIM gene information: 607001   
    OMIM disorders: 610253  
    UniProtKB/Swiss-Prot: EHMT1_HUMAN, Q9H9B1
  • Defects in EHMT1 are the cause of chromosome 9q subtelomeric deletion syndrome (9q- syndrome) [MIM:610253].
  • Common features seen in these patients are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic
    seizures, flat face with hypertelorism, synophrys, anteverted nares, cupid bow or tented upper lip, everted lower lip,
    prognathism, macroglossia, conotruncal heart defects, and behavioral problems

    11 diseases for EHMT1:    About MalaCards
    kleefstra syndrome    macroglossia    intellectual disability    fanconi's anemia
    hypotonia    anemia    homocysteine    colorectal cancer
    breast cancer    esophagitis    adenocarcinoma

    1 disease from the University of Copenhagen DISEASES database for EHMT1:
    Intellectual disability
    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)
    About This Section

    PubMed articles for EHMT1 gene, integrated from 9 sources (see all 63):
    (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. (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. (2001)
    3. G9a and Glp methylate lysine 373 in the tumor suppres sor p53. (PubMed id 20118233)1, 2, 9 Huang J....Berger S.L. (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. (2008)
    5. Structural biology of human H3K9 methyltransferases. (PubMed id 20084102)1, 2 Wu H....Schapira M. (2010)
    6. Zinc finger protein Wiz links G9a/GLP histone methyltransferases to the co-repressor molecule CtBP. (PubMed id 16702210)1, 2 Ueda J.... Shinkai Y. (2006)
    7. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. (PubMed id 16826528)1, 2 Kleefstra T.... van Bokhoven H. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. 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)
    10. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79813 HGNC: 24650 AceView: EHMT1.1 Ensembl:ENSG00000181090 euGenes: HUgn79813
    ECgene: EHMT1 Kegg: 79813 H-InvDB: EHMT1

    (According to HUGE)
    About This Section
    HUGE: KIAA1876

    (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 EHMT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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