Free for academic non-profit institutions. Other users need a Commercial license

EHMT1 Gene(Protein Coding)

Euchromatic Histone Lysine Methyltransferase 1

GCID:
GC09P137618
GIFtS:
64
Genes Participants
UDN Logo

Aliases for EHMT1 Gene

Aliases for EHMT1 Gene

  • Euchromatic Histone Lysine Methyltransferase 1 2 3 5
  • Euchromatic Histone-Lysine N-Methyltransferase 1 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
  • Histone-Lysine N-Methyltransferase EHMT1 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 Methyltransferase 1) is a Protein Coding gene. Diseases associated with EHMT1 include Kleefstra Syndrome and Chromosome 9Q Deletion. Among its related pathways are Lysine degradation and Regulation of TP53 Activity. GO annotations related to this gene include methyltransferase activity and histone-lysine N-methyltransferase activity. An important paralog of this gene is EHMT2.

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

  • Lysine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the lysine residues on histones, particularly histones H3 and H4. The dysregulation of this methylation is critical in the development of cancer.

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

Genomics for EHMT1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for EHMT1 Gene

Enhancers for EHMT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G137627 1.7 FANTOM5 Ensembl ENCODE dbSUPER 35.1 +10.5 10499 3.8 HDAC1 CTCF TBP FOXA2 MXI1 USF1 ETV1 SIN3A MAX BMI1 EHMT1 ARRDC1 DPH7 ZMYND19 LOC100418938 ANAPC2 NDOR1 ENSG00000274841
GH09G137678 1.3 Ensembl ENCODE dbSUPER 42.5 +61.1 61114 3.7 CTCF PKNOX1 CBX3 MAX FEZF1 RBBP5 EBF1 ZKSCAN1 GATA3 POLR2A EHMT1 ZMYND19 ARRDC1-AS1 ARRDC1 EXD3 NOXA1 SETP5 EHMT1-IT1
GH09G137610 1.6 Ensembl ENCODE dbSUPER 34 -3.4 -3399 10.5 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B YY1 EHMT1 ZMYND19 LOC100418938 ARRDC1-AS1 ENSG00000283411
GH09G137694 1.3 Ensembl ENCODE dbSUPER 41.1 +76.3 76346 1.4 GTF2F1 CTCF MXI1 ESRRA CBX3 SAP130 ARID4B MAX UBTF RAD21 EHMT1 ARRDC1 ARRDC1-AS1 SETP5 EHMT1-IT1
GH09G137669 1.8 FANTOM5 Ensembl ENCODE dbSUPER 29.6 +51.7 51677 2.5 HDGF FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 CBX5 EHMT1 ZMYND19 NRARP SETP5 EHMT1-IT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EHMT1 on UCSC Golden Path with GeneCards custom track

Promoters for EHMT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243240 137 2201 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 DEK

Transcription factor binding sites by QIAGEN in the EHMT1 gene promoter:

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

Genes around EHMT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EHMT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EHMT1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EHMT1 Gene

Proteins for EHMT1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for EHMT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EHMT1 Gene

  • Ubiquitination at Lys239, isoforms=3, 4740, isoforms=3827, Lys890, and Lys895
  • Modification sites at PhosphoSitePlus

Other Protein References for EHMT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EHMT1 Gene

Domains & Families for EHMT1 Gene

Gene Families for EHMT1 Gene

HGNC:

Protein Domains for EHMT1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EHMT1 Gene

GenScript: Design optimal peptide antigens:

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.
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.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
genes like me logo Genes that share domains with EHMT1: view

Function for EHMT1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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,IEA 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

Human Phenotype Ontology for EHMT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EHMT1 Gene

MGI Knock Outs for EHMT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for EHMT1

miRNA for EHMT1 Gene

miRTarBase miRNAs that target EHMT1

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EHMT1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for EHMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005694 chromosome IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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

1 GeneTex pathway for EHMT1 Gene
1 BioSystems pathway for EHMT1 Gene
2 KEGG pathways for EHMT1 Gene
1 R&D Systems pathway 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 IDA 12004135
GO:0009790 embryo development ISS --
GO:0016569 covalent chromatin modification IEA --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Entacapone Approved, Investigational Pharma COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation 54
L-Lysine Approved Nutra Full agonist, Agonist 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
UNC0638 Pharma G9a/GLP HMTase inhibitor, potent and selective 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Furamidine dihydrochloride
55368-40-6
MS 023 dihydrochloride
SGC 707
XY1
1624117-53-8

(5) Tocris Compounds for EHMT1 Gene

Compound Action Cas Number
Furamidine dihydrochloride Selective PRMT1 inhibitor 55368-40-6
MS 023 dihydrochloride Potent and selective type I PRMT inhibitor
SGC 707 Potent and selective allosteric inhibitor of PRMT3
TC-E 5003 Selective PRMT1 inhibitor 17328-16-4
XY1 Negative control of SGC 707 (Cat. No. 5367) 1624117-53-8

(10) ApexBio Compounds for EHMT1 Gene

Compound Action Cas Number
A 366 G9a/GLP histone lysine methyltransferase inhibitor 1527503-11-2
BIX 01294 G9a and GLP inhibitor 935693-62-2
Entacapone COMT inhibitor 130929-57-6
EPZ004777 DOT1L inhibitor 1338466-77-5
PFI-2 1627676-59-8
SGI-1027 DNMT inhibitor 1020149-73-8
UNC 0631 G9a inhibitor 1320288-19-4
UNC 0642 G9a and GLP histone lysine methyltransferase inhibitor 1481677-78-4
UNC 0646 G9a and GLP inhibitor 1320288-17-2
UNC0638 G9a/GLP HMTase inhibitor, potent and selective 1255580-76-7
genes like me logo Genes that share compounds with EHMT1: view

Drug Products

Transcripts for EHMT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EHMT1 Gene

(22) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(184) Selected AceView cDNA sequences:
(57) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EHMT1 Gene

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

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EHMT1 Gene

mRNA expression in normal human tissues for EHMT1 Gene
mRNA expression by BioGPS for EHMT1 GenemRNA expression by GTEx 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, MaxQB, and MOPED for EHMT1 Gene



Protein tissue co-expression partners for EHMT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EHMT1 Gene:

EHMT1

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.

Evidence on tissue expression from TISSUES for EHMT1 Gene

  • Nervous system(4.7)
  • Lymph node(4.3)
  • Liver(4.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EHMT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • large intestine
Pelvis:
  • rectum
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • hair
  • skin
genes like me logo Genes that share expression patterns with EHMT1: view

Primer 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
chimpanzee
(Pan troglodytes)
 Mammalia EHMT1 34 35
  • 99.45 (n)
dog
(Canis familiaris)
 Mammalia EHMT1 34 35
  • 86.91 (n)
rat
(Rattus norvegicus)
 Mammalia Ehmt1 34
  • 84.42 (n)
mouse
(Mus musculus)
 Mammalia Ehmt1 34 16 35
  • 84.4 (n)
cow
(Bos Taurus)
 Mammalia EHMT1 34 35
  • 83.42 (n)
oppossum
(Monodelphis domestica)
 Mammalia EHMT1 35
  • 83 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia EHMT1 35
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves EHMT1 34 35
  • 75.55 (n)
lizard
(Anolis carolinensis)
 Reptilia EHMT1 35
  • 73 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ehmt1 34
  • 68.09 (n)
zebrafish
(Danio rerio)
 Actinopterygii ehmt1b 34 35
  • 62.12 (n)
ehmt1a 35
  • 49 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta G9a 35
  • 22 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.117 35
  • 42 (a)
 OneToMany
Species where no ortholog for EHMT1 was found in the sources mined by GeneCards:
  • 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

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
rs79514677 other, A breast cancer sample 137,716,668(+) ACAGG(C/G/T)AGGAG reference, missense
VAR_036346 A breast cancer sample
VAR_069183 Kleefstra syndrome (KLESTS) [MIM:610253]
rs1057518849 Pathogenic 137,800,985(+) ACAAC(A/G)TAAGT splice-donor-variant
rs121918301 Pathogenic 137,818,100(+) ACGTT(C/T)GAGAG reference, stop-gained

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

Variant ID Type Subtype PubMed ID
dgv1250n67 CNV gain 20364138
dgv13012n54 CNV loss 21841781
dgv4181n106 CNV deletion 24896259
esv1387371 CNV insertion 17803354
esv1512111 CNV deletion 17803354
esv1605095 CNV insertion 17803354
esv1724904 CNV insertion 17803354
esv2246828 CNV deletion 18987734
esv2298174 CNV deletion 18987734
esv2312884 CNV deletion 18987734
esv24617 CNV loss 19812545
esv2517463 CNV deletion 19546169
esv2598233 CNV insertion 19546169
esv2671219 CNV deletion 23128226
esv2675080 CNV deletion 23128226
esv2676307 CNV deletion 23128226
esv27376 CNV gain 19812545
esv2739460 CNV deletion 23290073
esv2739462 CNV deletion 23290073
esv2739463 CNV deletion 23290073
esv2739464 CNV deletion 23290073
esv2739465 CNV deletion 23290073
esv2739466 CNV deletion 23290073
esv2739467 CNV deletion 23290073
esv3325303 CNV duplication 20981092
esv3330179 CNV duplication 20981092
esv3377711 CNV duplication 20981092
esv3423175 CNV duplication 20981092
esv3622038 CNV loss 21293372
esv3622041 CNV loss 21293372
esv3622042 CNV loss 21293372
esv996324 CNV insertion 20482838
nsv1075291 CNV deletion 25765185
nsv1111381 CNV tandem duplication 24896259
nsv1112486 CNV deletion 24896259
nsv1129307 CNV insertion 24896259
nsv1139384 CNV deletion 24896259
nsv1144307 CNV deletion 24896259
nsv1147969 CNV deletion 26484159
nsv472875 CNV novel sequence insertion 20440878
nsv478894 CNV novel sequence insertion 20440878
nsv509336 CNV insertion 20534489
nsv509337 CNV insertion 20534489
nsv616023 CNV loss 21841781
nsv6773 CNV insertion 18451855
nsv6774 CNV deletion 18451855
nsv825197 CNV gain 20364138
nsv825199 CNV gain 20364138
nsv831762 CNV loss 17160897
nsv831763 CNV loss 17160897
nsv951212 CNV deletion 24416366
nsv951213 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
EHMT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EHMT1

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

Disorders for EHMT1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
kleefstra syndrome
  • 9q subtelomeric deletion syndrome
chromosome 9q deletion
  • 9q deletion
autism spectrum disorder
  • pervasive development disorder
polymicrogyria
  • pmg
kleefstra syndrome due to a point mutation
- elite association - COSMIC cancer census association via MalaCards
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. G9a and Glp methylate lysine 373 in the tumor suppressor p53. (PMID: 20118233) Huang J. … Berger S.L. (J. Biol. Chem. 2010) 3 4 22 64
  2. The ankyrin repeats of G9a and GLP histone methyltransferases are mono-and dimethyllysine binding modules. (PMID: 18264113) Collins R.E. … Cheng X. (Nat. Struct. Mol. Biol. 2008) 3 4 22 64
  3. A complex with chromatin modifiers that occupies E2F- and Myc- responsive genes in G0 cells. (PMID: 12004135) Ogawa H. … Nakatani Y. (Science 2002) 2 3 4 64
  4. 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. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 64
  5. Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up. (PMID: 21041608) van Winkel R. (Arch. Gen. Psychiatry 2011) 3 46 64

Products for EHMT1 Gene

  • Addgene plasmids for EHMT1

Sources for EHMT1 Gene

Content
Loading form....