Property Summary

NCBI Gene PubMed Count 45
PubMed Score 208.07
PubTator Score 64.44

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count
medulloblastoma 1524
Disease Target Count P-value
juvenile dermatomyositis 1189 4.17014017397584E-13
atypical teratoid/rhabdoid tumor 1095 8.27145250628978E-6
group 4 medulloblastoma 1875 1.04451549039059E-5
ovarian cancer 8492 1.66335969206574E-5
primitive neuroectodermal tumor 3031 4.7230286484668E-5
primary pancreatic ductal adenocarcinoma 1271 6.29910876046273E-4
medulloblastoma, large-cell 6234 0.0011505738700761
osteosarcoma 7933 0.00223858982081602
ependymoma 2514 0.00271729805750327
oligodendroglioma 2849 0.00292246322979695
Rheumatoid Arthritis 1171 0.011333181018727
Disease Target Count Z-score Confidence
Intellectual disability 573 4.477 2.2
Disease Target Count Z-score Confidence
Autistic Disorder 320 3.408 1.7
Congenital heart disease 63 3.134 1.6
Disease Target Count
Kleefstra syndrome 9

Expression

  Differential Expression (11)

Synonym

Accession Q9H9B1 B1AQ58 B1AQ59 Q86X08 Q8TCN7 Q96F53 Q96JF1 Q96KH4
Symbols GLP
GLP1
KMT1D
FP13812
EUHMTASE1
Eu-HMTase1
bA188C12.1

Gene

PDB

2IGQ   2RFI   3B7B   3B95   3FPD   3HNA   3MO0   3MO2   3MO5   3SW9   3SWC   4I51  

  Ortholog (2)

Species Source
Macaque EggNOG Inparanoid
Mouse EggNOG Inparanoid

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.
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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.
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