| Modification Notes |
NSUN5 (NOL1/NOP2/Sun domain family, member 5), also known as NOL1, p120 or NOL1R, is a 429 amino acid protein that belongs to the methyltransferase superfamily and exists as multiple alternatively spliced isoforms. Expressed ubiquitously with higher expression in heart, placenta and skeletal muscle, NSUN5 is thought to function as an S-adenosyl-L-methionine-dependent methyl-transferase whose absence may be associated with the pathogenesis of Williams syndrome. NSUN5 is subject to post-translational phosphorylation, probably by ATM or ATR. The gene encoding NSUN5 maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. |