Homo sapiens Protein: EHMT1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-599055.3 | ||||||||||||||||||||||
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 | ENSP00000436107 | ||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00856
PF00023 PF13606 PF05033 PF11929 PF12796 |
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PRINTS |
PR01415
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PIRSF | |||||||||||||||||||||||
SMART |
SM00317
SM00248 SM00468 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9H9B1 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9H9B1 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 79813 | ||||||||||||||||||||||
UniGene | Hs.603381 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:24650 | ||||||||||||||||||||||
OMIM | 607001 | ||||||||||||||||||||||
CCDS | |||||||||||||||||||||||
HPRD | 07383 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB028932 AB058779 AK022941 AL590627 AL611925 AL713772 AY083210 BC011608 BC047504 | ||||||||||||||||||||||
GenPept | AAH11608 AAH47504 AAM09024 BAB14321 BAB47505 BAB56104 CAD28534 CAH71076 CAH71077 CAI17354 CAI17355 | ||||||||||||||||||||||