Entity Details

Primary name MET23_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86XA0
EntryNameMET23_HUMAN
FullNameMethyltransferase-like protein 23
TaxID9606
Evidenceevidence at protein level
Length190
SequenceStatuscomplete
DateCreated2008-02-26
DateModified2021-06-02

Ontological Relatives

GenesMETTL23

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0008134 transcription factor binding
GO:0008168 methyltransferase activity
GO:0016021 integral component of membrane
GO:0031072 heat shock protein binding
GO:0032259 methylation
GO:0032991 protein-containing complex
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0050890 cognition

Subcellular Location

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Subcellular Location
Cytoplasm
Membrane

Domains

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DomainNameCategoryType
IPR019410 Lysine methyltransferaseFamilyFamily
IPR029063 S-adenosyl-L-methionine-dependent methyltransferaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615942 OMIMMental retardation, autosomal recessive 44 (MRT44)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.