InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EHMT1

Summary

InnateDB Protein

IDBP-477969.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EHMT1

Protein Name

euchromatic histone-lysine N-methyltransferase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000417980

InnateDB Gene

IDBG-93549 (EHMT1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:12004135, ECO:0000269PubMed:20118233}.

Subcellular Localization

Nucleus. Chromosome. Note=Associates with euchromatic regions.

Disease Associations

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:0000269PubMed:16826528, ECO:0000269PubMed: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:0000269PubMed:16826528, ECO:0000269PubMed:19264732}.

Tissue Specificity

Widely expressed. {ECO:0000269PubMed:11347906}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	45 [view]
Protein-Protein	42 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002039	p53 binding
GO:0005515	protein binding
GO:0008168	methyltransferase activity
GO:0008270	zinc ion binding
GO:0016279	protein-lysine N-methyltransferase activity
GO:0018024	histone-lysine N-methyltransferase activity
GO:0046974	histone methyltransferase activity (H3-K9 specific)
GO:0046976	histone methyltransferase activity (H3-K27 specific)
GO:0070742	C2H2 zinc finger domain binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006306	DNA methylation
GO:0009790	embryo development
GO:0016568	chromatin modification
GO:0016571	histone methylation
GO:0018026	peptidyl-lysine monomethylation
GO:0018027	peptidyl-lysine dimethylation
GO:0034968	histone lysine methylation
GO:0045892	negative regulation of transcription, DNA-templated
GO:0051567	histone H3-K9 methylation
GO:0070734	histone H3-K27 methylation

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005694	chromosome
GO:0005737	cytoplasm
GO:0005886	plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001214 SET domain
IPR002110 Ankyrin repeat
IPR003606 Pre-SET zinc-binding sub-group
IPR007728 Pre-SET domain
IPR020683 Ankyrin repeat-containing domain

PFAM

PF00856
PF00023
PF13606
PF05033
PF11929
PF12796

PRINTS

PR01415

PIRSF

SMART

SM00317
SM00248
SM00468

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt