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79813 EHMT1

79813

EHMT1

euchromatic histone lysine methyltransferase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition euchromatic histone lysine methyltransferase 1

研究结论

Date Results Publications
2020-08-29 12:46:00 9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression. 31209758
2020-08-01 14:36:00 Results show that EHMT1 is overexpressed in inhibitors high-grade serous ovarian carcinoma (HGSOC) cell lines and patient-derived ascites. Combined EHMT1/2 high expression level correlates with poor patient outcomes. Knockdown or inhibition of EHMT1/2 restores sensitivity suggesting their implication in Pduanyu37i resistance. 31775874
2020-04-11 10:55:00 The authors show that IFI16 is in complex with the H3K9 methyltransferase SUV39H1 and GLP and recruits them to the human herpesvirus 8 genome during de novo infection and latency. The resulting depositions of H3K9me2/me3 serve as a docking site for the heterochromatin-inducing HP1alpha protein leading into the IFI16-dependent epigenetic modifications and silencing of the virus lytic genes. 31682228
2020-03-07 11:54:00 Neuronal networks of Kleefstra syndrome patient-derived cells exhibit network bursting with a reduced rate, longer duration, and increased temporal irregularity compared to control networks. We show that these changes are mediated by upregulation of NMDA receptor (NMDAR) subunit 1 correlating with reduced deposition of the repressive H3K9me2 mark, the catalytic product of EHMT1, at the GRIN1 promoter. 31666522
2019-08-24 11:07:00 We report infantile onset Pulmonary hypertension (PH) and congenital heart disease despite early CHD repair in three unrelated children with Kleefstra syndrome with deletions at 9q34.3 and define a 1.24 Mb critical region containing 47 protein-coding RefSeq genes including EHMT1. 30063093

名称对应

Type IDs
Synonymous EHMT1-IT1, EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KLEFS1, KMT1D
Gene
UniProtKB-ID: EHMT1_HUMAN, A0A1B0GV09_HUMAN
UniprotKB: Q9H9B1, A0A1B0GV09
UniParc: UPI000013E50E, UPI00006C0FB8, UPI000194EC2D, UPI0001F992C5, UPI0004EFFC72
EMBL: BC011608, AB058779, AL590627, AL365502, AK022941, AB028932, AL713772, AL611925, BC047504, AY083210
Ensembl: ENSG00000181090
KO: hsa:79813
Nucleutide sequences
EMBL-CDS: AAM09024.1, AAH47504.1, CAD28534.1, BAB14321.1, BAB47505.2, AAH11608.2, BAB56104.1
Ensembl_TRS: ENST00000462484, ENST00000460843, ENST00000371394, ENST00000637161
Protein sequencees
Ensembl_PRO: ENSP00000417980, ENSP00000485945, ENSP00000417328, ENSP00000490328
RefSeq: XP_011517333.1, XP_011517323.1, NP_079033.4, XP_024303445.1, XP_016870625.1, XP_024303448.1, NP_001138999.1, XP_011517332.1, XP_016870627.1, NP_001341541.1, NP_001341540.1, XP_011517331.1, XP_016870626.1, XP_024303447.1, NP_001341188.1, XP_024303443.1, XP_024303446.1, XP_024303442.1, XP_016870623.1, XP_011517327.1, XP_011517324.1, XP_011517325.1, NP_001341192.1, XP_005266162.1, XP_005266167.1, XP_024303444.1
Others
UniRef100: UniRef100_A0A1B0GV09, UniRef100_Q9H9B1
UniRef90: UniRef90_Q9H9B1
UniRef50: UniRef50_Q9H9B1
UniGene: Hs.495511
CCDS: CCDS56595.1, CCDS7050.2

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