Entity Details

Primary name EHMT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H9B1
EntryNameEHMT1_HUMAN
FullNameHistone-lysine N-methyltransferase EHMT1
TaxID9606
Evidenceevidence at protein level
Length1298
SequenceStatuscomplete
DateCreated2002-11-15
DateModified2021-06-02

Ontological Relatives

GenesEHMT1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0002039 p53 binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0006306 DNA methylation
GO:0006325 chromatin organization
GO:0008168 methyltransferase activity
GO:0008270 zinc ion binding
GO:0016279 protein-lysine N-methyltransferase activity
GO:0016571 histone methylation
GO:0016604 nuclear body
GO:0018024 histone-lysine N-methyltransferase activity
GO:0018026 peptidyl-lysine monomethylation
GO:0018027 peptidyl-lysine dimethylation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045995 regulation of embryonic development
GO:0046974 histone methyltransferase activity (H3-K9 specific)
GO:0046976 histone methyltransferase activity (H3-K27 specific)
GO:0060992 response to fungicide
GO:0070317 negative regulation of G0 to G1 transition
GO:0070742 C2H2 zinc finger domain binding
GO:0120162 positive regulation of cold-induced thermogenesis
GO:1901796 regulation of signal transduction by p53 class mediator

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR001214 SET domainDomainDomain
IPR002110 Ankyrin repeatRepeatRepeat
IPR007728 Pre-SET domainDomainDomain
IPR020683 Ankyrin repeat-containing domainDomainDomain
IPR036770 Ankyrin repeat-containing domain superfamilyFamilyHomologous superfamily
IPR038035 Histone-lysine N-methyltransferase EHMT1FamilyFamily
IPR043550 Histone-lysine N-methyltransferase EHMT1/EHMT2FamilyFamily

Diseases

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Disease IDSourceNameDescription
610253 OMIMKleefstra syndrome 1 (KLEFS1)A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. KLEFS1 patients additionally manifest brachy(micro)cephaly, congenital heart defects, and urogenital defects. The disease is caused by variants affecting the gene represented in this entry. 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).