Entity Details

Primary name SETD5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9C0A6
EntryNameSETD5_HUMAN
FullNameHistone-lysine N-methyltransferase SETD5
TaxID9606
Evidenceevidence at protein level
Length1442
SequenceStatuscomplete
DateCreated2007-04-03
DateModified2021-06-02

Ontological Relatives

GenesSETD5

GO terms

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GOName
GO:0000791 euchromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016569 covalent chromatin modification
GO:0032784 regulation of DNA-templated transcription, elongation
GO:0035065 regulation of histone acetylation
GO:0046974 histone methyltransferase activity (H3-K9 specific)
GO:0046975 histone methyltransferase activity (H3-K36 specific)
GO:0050890 cognition
GO:0051963 regulation of synapse assembly
GO:0097198 histone H3-K36 trimethylation
GO:1902275 regulation of chromatin organization

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR001214 SET domainDomainDomain
IPR044433 SETD5, SET domainDomainDomain

Diseases

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Disease IDSourceNameDescription
615761 OMIMMental retardation, autosomal dominant 23 (MRD23)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, are prominent features. The disease is caused by variants affecting the gene represented in this entry.