EHMT1 (euchromatic histone lysine methyltransferase 1)

2009-10-01 Affiliation

Identity

HGNC

EHMT1

LOCATION

9q34.3

LOCUSID

79813

ALIAS

EHMT1-IT1,EUHMTASE1,Eu-HMTase1,FP13812,GLP,GLP1,KLEFS1,KMT1D

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 79813
MIM: 607001
HGNC: 24650
Ensembl: ENSG00000181090

Variants:

dbSNP: 79813
ClinVar: 79813
TCGA: ENSG00000181090
COSMIC: EHMT1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000181090	ENST00000371394	Q9H9B1
ENSG00000181090	ENST00000460486	A0A0D9SFX4
ENSG00000181090	ENST00000460843	Q9H9B1
ENSG00000181090	ENST00000462484	Q9H9B1
ENSG00000181090	ENST00000462942	A0A0C4DGF8
ENSG00000181090	ENST00000465566	A0A0D9SF38
ENSG00000181090	ENST00000478940	A0A1B0GW12
ENSG00000181090	ENST00000482340	A0A0D9SFM6
ENSG00000181090	ENST00000486164	A0A0D9SEY2
ENSG00000181090	ENST00000492232	A0A0D9SFG7
ENSG00000181090	ENST00000493484	A0A0D9SFD7
ENSG00000181090	ENST00000626066	A0A0D9SEQ1
ENSG00000181090	ENST00000626216	A0A0D9SEP2
ENSG00000181090	ENST00000629335	A0A1B0GUD1
ENSG00000181090	ENST00000629417	A0A0D9SFS4
ENSG00000181090	ENST00000629808	A0A0D9SER9
ENSG00000181090	ENST00000630754	A0A0D9SER3
ENSG00000181090	ENST00000636027	A0A1B0GU48
ENSG00000181090	ENST00000637161	A0A1B0GV09
ENSG00000181090	ENST00000637261	A0A1B0GW79
ENSG00000181090	ENST00000637318	A0A1B0GW12
ENSG00000181090	ENST00000637891	A0A1B0GWF6
ENSG00000181090	ENST00000637949	A0A1B0GTP4
ENSG00000181090	ENST00000637977	A0A1B0GVZ8
ENSG00000181090	ENST00000638071	A0A1B0GV89
ENSG00000181090	ENST00000640639	A0A1W2PPZ7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Lysine degradation	KEGG	ko00310
Lysine degradation	KEGG	hsa00310
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
Cellular responses to stress	REACTOME	R-HSA-2262752
Cellular Senescence	REACTOME	R-HSA-2559583
Senescence-Associated Secretory Phenotype (SASP)	REACTOME	R-HSA-2559582
Chromatin organization	REACTOME	R-HSA-4839726
Chromatin modifying enzymes	REACTOME	R-HSA-3247509
PKMTs methylate histone lysines	REACTOME	R-HSA-3214841
Longevity regulating pathway	KEGG	hsa04211
Regulation of TP53 Activity	REACTOME	R-HSA-5633007
Regulation of TP53 Activity through Methylation	REACTOME	R-HSA-6804760

References

Pubmed ID	Year	Title	Citations
20118233	2010	G9a and Glp methylate lysine 373 in the tumor suppressor p53.	154
18264113	2008	The ankyrin repeats of G9a and GLP histone methyltransferases are mono- and dimethyllysine binding modules.	120
16826528	2006	Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.	102
24389103	2014	The histone H3 lysine 9 methyltransferases G9a and GLP regulate polycomb repressive complex 2-mediated gene silencing.	80
22726846	2012	Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.	68
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19264732	2009	Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.	55
21041608	2011	Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.	48
15805155	2005	Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.	46
19843671	2009	Genetic variants of methyl metabolizing enzymes and epigenetic regulators: associations with promoter CpG island hypermethylation in colorectal cancer.	38

Citation

Dessen P

EHMT1 (euchromatic histone lysine methyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-10-01

Online version: http://atlasgeneticsoncology.org/gene/51162/ehmt1