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.

Full Name

NOP2/Sun RNA Methyltransferase Family Member 5

Function

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).

Biological Process

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

Cellular Location

Nucleus, nucleolus

Involvement in disease

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).