NSUN5

This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms.

NOP2/Sun RNA Methyltransferase Family Member 5

S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C5 position of cytosine 3782 (m5C3782) in 28S rRNA (PubMed:23913415, PubMed:31428936, PubMed:31722427).
m5C3782 promotes protein translation without affecting ribosome biogenesis and fidelity (PubMed:31428936, PubMed:31722427).
Required for corpus callosum and cerebral cortex development (By similarity).

Cerebral cortex developmentISS:UniProtKB
CognitionISS:UniProtKB
Corpus callosum developmentISS:UniProtKB
Oligodendrocyte developmentISS:UniProtKB
Positive regulation of translationManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of myelinationISS:UniProtKB
RNA methylationManual Assertion Based On ExperimentIBA:GO_Central
rRNA base methylationManual Assertion Based On ExperimentIDA:UniProtKB

Nucleus, nucleolus

NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region (PubMed:11978965, PubMed:12073013). WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:11978965, PubMed:12073013). Its deletion in WBS results in decreased methylation of the C(5) position of cytosine 3782 (m5C3782) in 28S rRNA (PubMed:31722427).