Property Summary

NCBI Gene PubMed Count 45
PubMed Score 208.07
PubTator Score 64.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
Rheumatoid Arthritis 1.600 1.1e-02
ependymoma 2.200 2.7e-03
oligodendroglioma 1.700 2.9e-03
osteosarcoma 1.119 2.2e-03
group 4 medulloblastoma 1.700 1.0e-05
atypical teratoid/rhabdoid tumor 1.300 8.3e-06
medulloblastoma, large-cell 1.100 1.2e-03
primitive neuroectodermal tumor 1.400 4.7e-05
juvenile dermatomyositis 1.468 4.2e-13
primary pancreatic ductal adenocarcinoma 1.473 6.3e-04
ovarian cancer 1.900 1.7e-05

 OMIM Phenotype (1)

Gene RIF (29)

PMID Text
26320100 data provide genetic and pharmacologic evidence that EHMT1 and EHMT2 are epigenetic regulators involved in gamma-globin repression and represent a novel therapeutic target for SCD.
25935252 This study demonstrate that the increases in a restrictive epigenome seen in schizophrenia are sex dependent. Specifically,H3K9me2 were significantly increased in lymphocytes from men with schizophrenia.
25789554 Data indicate zinc finger proteins ZNF644 and WIZ as two core subunits in the histone-lysine N-methyltransferase G9a/GLP complex, and interact with the transcription activation domain of G9a and GLP.
25380126 Haploinsufficiency of EHMT1 caused by either microdeletions at 9q34.3 or intragenic mutations are associated with Kleefstra syndrome.
25365549 The current knowledge on the mechanisms of action and function of EHMT1, with particular emphasis on their interplay in the regulation of chromatin states and biological processes.
25079219 The expression level of EHMT1 and EHMT2 inversely correlates with the type I interferon responsiveness in chronic myeloid leukemia cell lines.
24389103 PRC2 and G9a/GLP interact physically and functionally.
23541084 Results suggest that GLP may play a significant role in the maintenance of HIV-1 latency by catalyzing dimethylation of H3K9.
23232695 Data indicate that Kleefstra syndrome patient carrying a splice-site mutation in EHMT1 inherited from the mother who showed tissue-specific mosaicism.
22801426 EHMT1 protein binds to nuclear factor-kappaB p50 and represses gene expression.
22726846 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
21538692 These results have important implications for the genetic screening of Kleefstra syndrome and for studies of the functional significance of EHMT1.
21204793 the first descriptions of affected parent-to-child transmission of Kleefstra syndrome caused by small interstitial deletions, approximately 200 kb, involving part of the EHMT1 gene.
21041608 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20960050 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20800603 Observational study of gene-disease association. (HuGE Navigator)
20588255 MDM2 mediates formation of p53-SUV39H1/EHMT1 complex capable of methylating H3-K9 in vitro and on p53 target promoters in vivo.
20453000 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20118233 G9a and Glp methylate lysine 373 in the tumor suppressor p53
19843671 Observational study of gene-disease association. (HuGE Navigator)
19531572 We found robust DNA hypomethylation in G9a/GLP knockdown of murine ES cells but a lack of DNA methylation changes in G9a/GLP knockdown human cancer cells; intriguingly, this distinction also extended to markers of global DNA methylation.
19264732 Seq. analysis of EHMT1 in patients with 9qSTD phenotype without deletion id'd six patients with an intragenic EHMT1 mutation.
19128641 Normal head and neck tissues have unique epigenetic profiles demarcated by distinct HKMTase gene expression.
19124506 Observational study of gene-disease association. (HuGE Navigator)
18264113 G9a and GLP contain a new type of methyllysine binding module (the ankyrin repeat domains) and are the first examples of protein (histone) methyltransferases harboring in a single polypeptide the activities that generate and read the same epigenetic mark.
16826528 Haploinsufficiency of EHMT1 is causative for 9q subtelomeric deletion syndrome.
16501248 Observational study of gene-disease association. (HuGE Navigator)
15805155 This indicates that haploinsufficiency of Eu-HMTase1 is responsible for the 9q submicroscopic subtelomeric deletion syndrome

AA Sequence

MAAADAEAVPARGEPQQDCCVKTELLGEETPMAADEGSAEKQAGEAHMAADGETNGSCENSDASSHANAA      1 - 70
KHTQDSARVNPQDGTNTLTRIAENGVSERDSEAAKQNHVTADDFVQTSVIGSNGYILNKPALQAQPLRTT     71 - 140
STLASSLPGHAAKTLPGGAGKGRTPSAFPQTPAAPPATLGEGSADTEDRKLPAPGADVKVHRARKTMPKS    141 - 210
VVGLHAASKDPREVREARDHKEPKEEINKNISDFGRQQLLPPFPSLHQSLPQNQCYMATTKSQTACLPFV    211 - 280
LAAAVSRKKKRRMGTYSLVPKKKTKVLKQRTVIEMFKSITHSTVGSKGEKDLGASSLHVNGESLEMDSDE    281 - 350
DDSEELEEDDGHGAEQAAAFPTEDSRTSKESMSEADRAQKMDGESEEEQESVDTGEEEEGGDESDLSSES    351 - 420
SIKKKFLKRKGKTDSPWIKPARKRRRRSRKKPSGALGSESYKSSAGSAEQTAPGDSTGYMEVSLDSLDLR    421 - 490
VKGILSSQAEGLANGPDVLETDGLQEVPLCSCRMETPKSREITTLANNQCMATESVDHELGRCTNSVVKY    491 - 560
ELMRPSNKAPLLVLCEDHRGRMVKHQCCPGCGYFCTAGNFMECQPESSISHRFHKDCASRVNNASYCPHC    561 - 630
GEESSKAKEVTIAKADTTSTVTPVPGQEKGSALEGRADTTTGSAAGPPLSEDDKLQGAASHVPEGFDPTG    631 - 700
PAGLGRPTPGLSQGPGKETLESALIALDSEKPKKLRFHPKQLYFSARQGELQKVLLMLVDGIDPNFKMEH    701 - 770
QNKRSPLHAAAEAGHVDICHMLVQAGANIDTCSEDQRTPLMEAAENNHLEAVKYLIKAGALVDPKDAEGS    771 - 840
TCLHLAAKKGHYEVVQYLLSNGQMDVNCQDDGGWTPMIWATEYKHVDLVKLLLSKGSDINIRDNEENICL    841 - 910
HWAAFSGCVDIAEILLAAKCDLHAVNIHGDSPLHIAARENRYDCVVLFLSRDSDVTLKNKEGETPLQCAS    911 - 980
LNSQVWSALQMSKALQDSAPDRPSPVERIVSRDIARGYERIPIPCVNAVDSEPCPSNYKYVSQNCVTSPM    981 - 1050
NIDRNITHLQYCVCIDDCSSSNCMCGQLSMRCWYDKDGRLLPEFNMAEPPLIFECNHACSCWRNCRNRVV   1051 - 1120
QNGLRARLQLYRTRDMGWGVRSLQDIPPGTFVCEYVGELISDSEADVREEDSYLFDLDNKDGEVYCIDAR   1121 - 1190
FYGNVSRFINHHCEPNLVPVRVFMAHQDLRFPRIAFFSTRLIEAGEQLGFDYGERFWDIKGKLFSCRCGS   1191 - 1260
PKCRHSSAALAQRQASAAQEAQEDGLPDTSSAAAADPL                                   1261 - 1298
//

Text Mined References (59)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26320100 2015 EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression.
25935252 2015 Evidence of a sex-dependent restrictive epigenome in schizophrenia.
25789554 2015 The zinc finger proteins ZNF644 and WIZ regulate the G9a/GLP complex for gene repression.
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25380126 2014 Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
25365549 2015 Functional Crosstalk Between Lysine Methyltransferases on Histone Substrates: The Case of G9A/GLP and Polycomb Repressive Complex 2.
25349628 2014 Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
25079219 2014 Inhibition of euchromatic histone methyltransferase 1 and 2 sensitizes chronic myeloid leukemia cells to interferon treatment.
24649311 2014 Analysis of EHMT1 expression and its correlations with clinical significance in esophageal squamous cell cancer.
24389103 2014 The histone H3 lysine 9 methyltransferases G9a and GLP regulate polycomb repressive complex 2-mediated gene silencing.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23541084 2013 Involvement of histone methyltransferase GLP in HIV-1 latency through catalysis of H3K9 dimethylation.
23232695 2013 A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22801426 2012 EHMT1 protein binds to nuclear factor-?B p50 and represses gene expression.
22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
21538692 2011 Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21204793 2011 Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.
21131967 2011 Lysine methylation of the NF-?B subunit RelA by SETD6 couples activity of the histone methyltransferase GLP at chromatin to tonic repression of NF-?B signaling.
21041608 2011 Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.
20960050 2011 Dietary methyl donors, methyl metabolizing enzymes, and epigenetic regulators: diet-gene interactions and promoter CpG island hypermethylation in colorectal cancer.
20871592 2010 Methyl-H3K9-binding protein MPP8 mediates E-cadherin gene silencing and promotes tumour cell motility and invasion.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20588255 2010 MDM2 recruitment of lysine methyltransferases regulates p53 transcriptional output.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20434463 2010 Adding a lysine mimic in the design of potent inhibitors of histone lysine methyltransferases.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20118233 2010 G9a and Glp methylate lysine 373 in the tumor suppressor p53.
20084102 2010 Structural biology of human H3K9 methyltransferases.
19843671 2009 Genetic variants of methyl metabolizing enzymes and epigenetic regulators: associations with promoter CpG island hypermethylation in colorectal cancer.
19531572 2009 Distinct roles for histone methyltransferases G9a and GLP in cancer germ-line antigen gene regulation in human cancer cells and murine embryonic stem cells.
19264732 2009 Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
19144645 2009 Dynamic Histone H1 Isotype 4 Methylation and Demethylation by Histone Lysine Methyltransferase G9a/KMT1C and the Jumonji Domain-containing JMJD2/KDM4 Proteins.
19128641 2008 Epigenetic perspective into head and neck cancer through in silico gene expression profiling of histone lysine methyltransferases.
19124506 2009 Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
19061646 2008 CDYL bridges REST and histone methyltransferases for gene repression and suppression of cellular transformation.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18264113 2008 The ankyrin repeats of G9a and GLP histone methyltransferases are mono- and dimethyllysine binding modules.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16826528 2006 Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
16702210 2006 Zinc finger protein Wiz links G9a/GLP histone methyltransferases to the co-repressor molecule CtBP.
16501248 2006 Genetic variants in epigenetic genes and breast cancer risk.
15805155 2005 Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
12004135 2002 A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells.
11347906 2001 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.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.