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Aliases for EHMT1 Gene

Aliases for EHMT1 Gene

  • Euchromatic Histone-Lysine N-Methyltransferase 1 2 3 4
  • Histone H3-K9 Methyltransferase 5 3 4
  • Lysine N-Methyltransferase 1D 3 4
  • G9a-Like Protein 1 3 4
  • H3-K9-HMTase 5 3 4
  • Eu-HMTase1 3 4
  • EUHMTASE1 3 4
  • KMT1D 3 4
  • GLP1 3 4
  • GLP 3 4
  • Histone-Lysine N-Methyltransferase, H3 Lysine-9 Specific 5 3
  • Euchromatic Histone Methyltransferase 1 2
  • EC 2.1.1.43 4
  • BA188C12.1 3
  • EC 2.1.1.- 4
  • KIAA1876 4
  • FP13812 3

External Ids for EHMT1 Gene

Previous GeneCards Identifiers for EHMT1 Gene

  • GC09P135825
  • GC09P137881
  • GC09P139633
  • GC09P139725
  • GC09P140513
  • GC09P110067

Summaries for EHMT1 Gene

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, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

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 a point mutation and kleefstra syndrome due to 9q34 microdeletion. Among its related pathways are Cellular Senescence and Chromatin organization. GO annotations related to this gene include methyltransferase activity and histone-lysine N-methyltransferase activity. An important paralog of this gene is SUV39H2.

UniProtKB/Swiss-Prot for EHMT1 Gene

  • 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.

Tocris 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. This occurs predominantly on the side chains of lysine and arginine residues in histones H3 and H4.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHMT1 Gene

Genomics for EHMT1 Gene

Regulatory Elements for EHMT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EHMT1 Gene

Chromosome:
9
Start:
137,618,963 bp from pter
End:
137,870,016 bp from pter
Size:
251,054 bases
Orientation:
Plus strand

Genomic View for EHMT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EHMT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EHMT1 Gene

Proteins for EHMT1 Gene

  • Protein details for EHMT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9B1-EHMT1_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase EHMT1
    Protein Accession:
    Q9H9B1
    Secondary Accessions:
    • B1AQ58
    • B1AQ59
    • Q86X08
    • Q8TCN7
    • Q96F53
    • Q96JF1
    • Q96KH4

    Protein attributes for EHMT1 Gene

    Size:
    1298 amino acids
    Molecular mass:
    141466 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAB14321.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAD28534.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=CAH71077.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI17354.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EHMT1 Gene

    Alternative splice isoforms for EHMT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EHMT1 Gene

Proteomics data for EHMT1 Gene at MOPED

Post-translational modifications for EHMT1 Gene

  • Ubiquitination at Lys 239, Lys 740, Lys 827, Lys 890, and Lys 895
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for EHMT1 Gene

Domains & Families for EHMT1 Gene

Suggested Antigen Peptide Sequences for EHMT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H9B1

UniProtKB/Swiss-Prot:

EHMT1_HUMAN :
  • 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.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
  • Contains 8 ANK repeats.
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.
  • The SET domain mediates interaction with WIZ.
  • In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster.
  • Contains 1 pre-SET domain.
  • Contains 1 SET domain.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
Similarity:
  • Contains 8 ANK repeats.
genes like me logo Genes that share domains with EHMT1: view

Function for EHMT1 Gene

Molecular function for EHMT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot EnzymeRegulation:
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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for EHMT1 Gene

Gene Ontology (GO) - Molecular Function for EHMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IPI 20118233
GO:0005515 protein binding IPI 19061646
GO:0008168 methyltransferase activity IDA 12004135
GO:0008270 zinc ion binding IEA --
GO:0016279 protein-lysine N-methyltransferase activity IDA 20118233
genes like me logo Genes that share ontologies with EHMT1: view
genes like me logo Genes that share phenotypes with EHMT1: view

Animal Models for EHMT1 Gene

MGI Knock Outs for EHMT1:

Animal Model Products

miRNA for EHMT1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EHMT1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for EHMT1 Gene

Localization for EHMT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHMT1 Gene

Nucleus. Chromosome. Note=Associates with euchromatic regions.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EHMT1 Gene COMPARTMENTS Subcellular localization image for EHMT1 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 2

Gene Ontology (GO) - Cellular Components for EHMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with EHMT1: view

Pathways & Interactions for EHMT1 Gene

genes like me logo Genes that share pathways with EHMT1: view

Pathways by source for EHMT1 Gene

Gene Ontology (GO) - Biological Process for EHMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006306 DNA methylation ISS --
GO:0006325 chromatin organization TAS --
GO:0009790 embryo development ISS --
GO:0016568 chromatin modification IDA 12004135
genes like me logo Genes that share ontologies with EHMT1: view

No data available for SIGNOR curated interactions for EHMT1 Gene

Drugs & Compounds for EHMT1 Gene

(12) Drugs for EHMT1 Gene - From: HMDB, ApexBio, Tocris, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Entacapone Approved, Investigational Pharma COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation 46
L-Lysine Approved Nutra Full agonist, Agonist 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
EPZ004777 Pharma DOT1L inhibitor 0

(4) Additional Compounds for EHMT1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chaetocin
28097-03-2
UNC 0224
1197196-48-7
UNC 0638
1255517-77-1
UNC 0646
1320288-17-2
genes like me logo Genes that share compounds with EHMT1: view

Transcripts for EHMT1 Gene

Unigene Clusters for EHMT1 Gene

Euchromatic histone-lysine N-methyltransferase 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EHMT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EHMT1 Gene

No ASD Table

Relevant External Links for EHMT1 Gene

GeneLoc Exon Structure for
EHMT1
ECgene alternative splicing isoforms for
EHMT1

Expression for EHMT1 Gene

mRNA expression in normal human tissues for EHMT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EHMT1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.7), Lung (7.5), and CD8 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EHMT1 Gene



SOURCE GeneReport for Unigene cluster for EHMT1 Gene Hs.495511

mRNA Expression by UniProt/SwissProt for EHMT1 Gene

Q9H9B1-EHMT1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with EHMT1: view

Protein tissue co-expression partners for EHMT1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for EHMT1 Gene

Orthologs for EHMT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EHMT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EHMT1 35
  • 83.42 (n)
  • 85.8 (a)
EHMT1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EHMT1 35
  • 86.91 (n)
  • 89.66 (a)
EHMT1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ehmt1 35
  • 84.4 (n)
  • 89.16 (a)
Ehmt1 16
Ehmt1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EHMT1 35
  • 99.45 (n)
  • 99.61 (a)
EHMT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ehmt1 35
  • 84.42 (n)
  • 89.41 (a)
oppossum
(Monodelphis domestica)
Mammalia EHMT1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHMT1 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves EHMT1 35
  • 75.55 (n)
  • 79.22 (a)
EHMT1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EHMT1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ehmt1 35
  • 68.09 (n)
  • 67.49 (a)
zebrafish
(Danio rerio)
Actinopterygii ehmt1b 35
  • 62.12 (n)
  • 60.41 (a)
ehmt1a 36
  • 49 (a)
OneToMany
ehmt1b 36
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta G9a 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.117 36
  • 42 (a)
OneToMany
Species with no ortholog for EHMT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EHMT1 Gene

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

Paralogs for EHMT1 Gene

(12) SIMAP similar genes for EHMT1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EHMT1: view

Variants for EHMT1 Gene

Sequence variations from dbSNP and Humsavar for EHMT1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs975978 -- 137,692,704(+) GTCAG(A/G)AGCAC intron-variant
rs1117832 -- 137,691,326(+) atata(A/T)aatat intron-variant
rs1129767 other, other 137,743,964(+) GACTC(A/G/T)GATGA synonymous-codon, reference
rs1129768 other, other 137,744,009(+) CATGG(A/C/G/T)GCAGA synonymous-codon, reference
rs1133815 -- 137,784,220(+) CCAGC(A/T)CAGCC utr-variant-3-prime, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EHMT1 Gene

Variant ID Type Subtype PubMed ID
nsv894387 CNV Gain 21882294
dgv8412n71 CNV Loss 21882294
nsv831762 CNV Loss 17160897
nsv831763 CNV Loss 17160897
dgv8462n71 CNV Loss 21882294
nsv894669 CNV Loss 21882294
nsv894670 CNV Loss 21882294
dgv8463n71 CNV Loss 21882294
esv2675080 CNV Deletion 23128226
nsv894676 CNV Loss 21882294
esv2739460 CNV Deletion 23290073
nsv6773 CNV Insertion 18451855
nsv509336 CNV Insertion 20534489
nsv894677 CNV Loss 21882294
esv2739462 CNV Deletion 23290073
esv27376 CNV Gain 19812545
esv1605095 CNV Insertion 17803354
esv2739463 CNV Deletion 23290073
esv2739464 CNV Deletion 23290073
esv2739465 CNV Deletion 23290073
esv1387371 CNV Insertion 17803354
esv1724904 CNV Insertion 17803354
esv996324 CNV Insertion 20482838
nsv894678 CNV Loss 21882294
nsv894679 CNV Loss 21882294
nsv509337 CNV Insertion 20534489
esv2739466 CNV Deletion 23290073
esv2312884 CNV Deletion 18987734
esv2676307 CNV Deletion 23128226
esv2739467 CNV Deletion 23290073
esv2598233 CNV Insertion 19546169
nsv6774 CNV Loss 18451855
esv2246828 CNV Deletion 18987734
dgv1250n67 CNV Gain 20364138
esv2517463 CNV Deletion 19546169
esv2298174 CNV Deletion 18987734
esv2671219 CNV Deletion 23128226
esv24617 CNV Loss 19812545
esv1512111 CNV Deletion 17803354
nsv825197 CNV Gain 20364138
nsv825199 CNV Gain 20364138

Variation tolerance for EHMT1 Gene

Residual Variation Intolerance Score: 1.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.19; 61.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EHMT1 Gene

HapMap Linkage Disequilibrium report
EHMT1
Human Gene Mutation Database (HGMD)
EHMT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EHMT1 Gene

Disorders for EHMT1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for EHMT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kleefstra syndrome due to a point mutation
kleefstra syndrome due to 9q34 microdeletion
  • kleefstra syndrome
kleefstra syndrome
  • 9q subtelomeric deletion syndrome
chromosome 9q deletion
  • 9q deletion
alcohol dependence
  • alcohol dependence, protection against
- elite association
Search EHMT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EHMT1_HUMAN
  • 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. {ECO:0000269 PubMed:16826528, ECO:0000269 PubMed:19264732}. 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). {ECO:0000269 PubMed:16826528, ECO:0000269 PubMed:19264732}.

Relevant External Links for EHMT1

Genetic Association Database (GAD)
EHMT1
Human Genome Epidemiology (HuGE) Navigator
EHMT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EHMT1
genes like me logo Genes that share disorders with EHMT1: view

No data available for Genatlas for EHMT1 Gene

Publications for EHMT1 Gene

  1. A subset of the histone H3 lysine 9 methyltransferases Suv39h1, G9a, GLP, and SETDB1 participate in a multimeric complex. (PMID: 20129054) Fritsch L. … Ait-Si-Ali S. (Mol. Cell 2010) 23 67
  2. G9a and Glp methylate lysine 373 in the tumor suppressor p53. (PMID: 20118233) Huang J. … Berger S.L. (J. Biol. Chem. 2010) 23 67
  3. Epigenetic regulation in human brain-focus on histone lysine methylation. (PMID: 18814864) Akbarian S. … Huang H.S. (Biol. Psychiatry 2009) 23 67
  4. A jumonji (Jarid2) protein complex represses cyclin D1 expression by methylation of histone H3-K9. (PMID: 19010785) Shirato H. … Takeuchi T. (J. Biol. Chem. 2009) 23 67
  5. Structural basis for G9a-like protein lysine methyltransferase inhibition by BIX-01294. (PMID: 19219047) Chang Y. … Cheng X. (Nat. Struct. Mol. Biol. 2009) 23 67

Products for EHMT1 Gene

  • Addgene plasmids for EHMT1

Sources for EHMT1 Gene

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