Aliases for EHMT1 Gene
Aliases for EHMT1 Gene
External Ids for EHMT1 Gene
- HGNC: 24650
- Entrez Gene: 79813
- Ensembl: ENSG00000181090
- OMIM: 607001
- UniProtKB: Q9H9B1
Previous GeneCards Identifiers for EHMT1 Gene
- GC09P135825
- GC09P137881
- GC09P139633
- GC09P139725
- GC09P140513
- GC09P110067
Summaries 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.
-
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
Regulatory Elements for EHMT1 Gene
Enhancers for EHMT1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around EHMT1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the EHMT1 gene promoter:
Regulatory Element Products
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:
-
- 9q34.3 by Ensembl
- 9q34.3 by Entrez Gene
- 9q34.3 by HGNC
EHMT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for EHMT1 Gene
Post-translational modifications for EHMT1 Gene
Other Protein References for EHMT1 Gene
- ENSEMBL proteins:
-
- ENSP00000417328
- ENSP00000436107
- ENSP00000485878
- ENSP00000485900
- ENSP00000485933
- ENSP00000485945
- ENSP00000485947
- ENSP00000486127
- ENSP00000486261
- ENSP00000486503
- ENSP00000486580
- ENSP00000486748
- ENSP00000486857
- ENSP00000486969
- ENSP00000489786
- ENSP00000489961
- ENSP00000490056
- ENSP00000490328
- ENSP00000490417
- ENSP00000490611
- ENSP00000490714
- ENSP00000490732
- ENSP00000490815
- ENSP00000490907
- ENSP00000491823
- ENSP00000417980
- REFSEQ proteins:
-
- NP_001138999.1
- NP_079033.4
- XP_005266162.1
- XP_005266167.1
- XP_006717351.1
- XP_011517323.1
- XP_011517324.1
- XP_011517325.1
- XP_011517326.1
- XP_011517327.1
- XP_011517328.1
- XP_011517329.1
- XP_011517330.1
- XP_011517331.1
- XP_011517332.1
- XP_011517333.1
- XP_011517335.1
- XP_016870623.1
- XP_016870624.1
- XP_016870625.1
- XP_016870626.1
- XP_016870627.1
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for EHMT1
- R&D Systems Antibodies for EHMT1 (GLP/EHMT1)
-
Custom Antibody ServicesOriGene Antibodies for EHMT1
- Novus Biologicals Antibodies for EHMT1
-
Abcam antibodies for EHMT1
- Invitrogen Antibodies for EHMT1
- antibodies-online Antibodies for EHMT1: See all 551
- GeneTex EHMT1 antibody for EHMT1
Protein Products
-
OriGene Purified Proteins for EHMT1
- Search Origene for MassSpec and Protein Over-expression Lysates for EHMT1
- Origene Custom Protein Services for EHMT1
- antibodies-online Proteins for EHMT1: See all 72
- Search antibodies-online for peptides
- Search GeneTex for Proteins for EHMT1
Assay Products
- antibodies-online Kits for EHMT1: See all 202
No data available for DME Specific Peptides for EHMT1 Gene
Domains & Families for EHMT1 Gene
Gene Families for EHMT1 Gene
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
Q9H9B1UniProtKB/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.
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
| 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 |
Phenotypes for EHMT1 Gene
- MGI mutant phenotypes for EHMT1:
-
inferred from 7 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- nervous system phenotype
- cardiovascular system phenotype
- vision/eye phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for EHMT1:
Animal Models for EHMT1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for EHMT1
-
ViGene Biosciences lentiviral particle packaged cDNA for EHMT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EHMT1 gene
- Search ViGene Biosciences for EHMT1
CRISPR Products
-
OriGene CRISPR knockouts for EHMT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EHMT1
- GenScript: Design CRISPR guide RNA sequences for EHMT1
miRNA for EHMT1 Gene
- miRTarBase miRNAs that target EHMT1
miRNA Products
- Search ViGene Biosciences for EHMT1
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for EHMT1
- Browse OriGene Inhibitory RNA Products For EHMT1
-
ViGene Biosciences ready-to-package AAV shRNAs for EHMT1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for EHMT1
Cell Line Products
-
Horizon Cell Lines for EHMT1
-
ViGene Biosciences adenoviral particle packaged cDNA for EHMT1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for EHMT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EHMT1 gene
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| 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 | -- |
Pathways & Interactions for EHMT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cellular Senescence | ||
| 2 | Regulation of TP53 Activity | ||
| 3 | Chromatin organization | ||
| 4 | Gene Expression |
.48
|
|
| 5 | PKMTs methylate histone lysines | ||
Pathways by source for EHMT1 Gene
1 GeneTex pathway for EHMT1 Gene
1 BioSystems pathway for EHMT1 Gene
11 Reactome pathways for EHMT1 Gene
2 KEGG pathways for EHMT1 Gene
1 R&D Systems pathway for EHMT1 Gene
Interacting Proteins for EHMT1 Gene
Selected Interacting proteins:
ENSP00000417980
Q9H9B1-EHMT1_HUMAN
for EHMT1 Gene via
STRING
MINT
IID
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for EHMT1 Gene
Drugs & Compounds for EHMT1 Gene
| 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 |
| 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 |
Drug Products
- ApexBio compounds for EHMT1
Transcripts for EHMT1 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for EHMT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EHMT1
- GenScript: Design CRISPR guide RNA sequences for EHMT1
miRNA Products
- Search ViGene Biosciences for EHMT1
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for EHMT1
- Browse OriGene Inhibitory RNA Products For EHMT1
-
ViGene Biosciences ready-to-package AAV shRNAs for EHMT1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for EHMT1
Flow Cytometry Products
Expression for EHMT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epiblast (Early Embryonic Tissues)
- Primordial Germ Cell Precursors Epiblast
-
Gonad
- Primordial Germ Cell Precursors Epiblast
-
Spleen (Hematopoietic System)
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of EHMT1 Gene:
EHMT1SOURCE GeneReport for Unigene cluster for EHMT1 Gene:
Hs.495511mRNA 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
Primer Products
-
OriGene qPCR primer pairs for EHMT1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EHMT1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | EHMT1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ehmt1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ehmt1 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | EHMT1 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | EHMT1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | EHMT1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | EHMT1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | EHMT1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ehmt1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ehmt1b 34 35 |
|
||
| ehmt1a 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | G9a 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.117 35 |
|
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)
Paralogs for EHMT1 Gene
Paralogs for EHMT1 Gene
(12) SIMAP similar genes for EHMT1 Gene using alignment to 2 proteins:
Variants 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EHMT1 Gene
Disorders for EHMT1 Gene
(13) MalaCards diseases for EHMT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kleefstra syndrome |
|
|
| chromosome 9q deletion |
|
|
| autism spectrum disorder |
|
|
| polymicrogyria |
|
|
| kleefstra syndrome due to a point mutation |
|
|
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
No data available for Genatlas for EHMT1 Gene
Publications for EHMT1 Gene
- 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
- 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
- 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
- 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
- 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
- R&D Systems Antibodies for EHMT1 (GLP/EHMT1)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for EHMT1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for EHMT1
- Search Origene for MassSpec and Protein Over-expression Lysates for EHMT1
- Origene Custom Protein Services for EHMT1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for EHMT1
- Browse OriGene Inhibitory RNA Products For EHMT1
- OriGene qPCR primer pairs for EHMT1
- OriGene CRISPR knockouts for EHMT1
- OriGene ORF clones in human for EHMT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EHMT1
- GenScript: Next-day shipping cDNA ORF clone for EHMT1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for EHMT1
- GenScript Custom Assay Services for EHMT1
- GenScript Custom overexpressing Cell Line Services for EHMT1
- GenScript: Design CRISPR guide RNA sequences for EHMT1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for EHMT1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for EHMT1
- Novus Biologicals proteins and lysates for EHMT1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Taconic Biosciences Mouse Models for EHMT1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for EHMT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for EHMT1
- Addgene plasmids for EHMT1
- antibodies-online Antibodies for EHMT1: See all 551
- antibodies-online Kits for EHMT1: See all 202
- antibodies-online Proteins for EHMT1: See all 72
- Search antibodies-online for peptides
- GeneTex EHMT1 antibody for EHMT1
- Search GeneTex for Proteins for EHMT1
- ViGene Biosciences adenoviral particle packaged cDNA for EHMT1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for EHMT1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for EHMT1 gene
- Search ViGene Biosciences for EHMT1
- Search Santa Cruz Biotechnology (SCBT) for EHMT1 Antibodies
- Search Santa Cruz Biotechnology (SCBT) for EHMT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EHMT1
- Horizon Cell Lines for EHMT1
- Cyagen custom Knockout/knockin (KOKI) mouse models for EHMT1
- VectorBuilder custom plasmid, inducible vectors for EHMT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EHMT1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for EHMT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer