SETD5

This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms.

Full Name

SET Domain Containing 5

Function

Chromatin regulator required for brain development: acts as a regulator of RNA elongation rate, thereby regulating neural stem cell (NSC) proliferation and synaptic transmission. May act by mediating trimethylation of 'Lys-36' of histone H3 (H3K36me3), which is essential to allow on-time RNA elongation dynamics. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. The relevance of histone methyltransferase activity is however subject to discussion.

Biological Process

Biological Process chromatin organizationIEA:UniProtKB-KW
Biological Process cognitionISS:UniProtKB
Biological Process histone H3-K36 trimethylationISS:UniProtKB
Biological Process regulation of chromatin organizationISS:UniProtKB
Biological Process regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of DNA-templated transcription elongationISS:UniProtKB
Biological Process regulation of histone acetylationISS:UniProtKB
Biological Process regulation of synapse assemblyISS:UniProtKB

Cellular Location

Nucleus
Chromosome
Localizes to active transcribed genes.

Involvement in disease

Intellectual developmental disorder, 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.