NSUN5 is a member of the evolutionarily conserved NOL1/NOP2/Sun domain family. The encoded protein may function as a DNA methyltransferase in the nucleus. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.
Protein Aliases: 28S rRNA (cytosine-C(5))-methyltransferase; FLJ10267; MGC986; NOL1-related protein; NOL1/NOP2/Sun domain family member 5; NOL1R; NOP2/Sun domain family, member 5; NOP2/Sun domain family, member 5A; putative methyltransferase NSUN5; Williams Beuren syndrome chromosome region 20A; Williams-Beuren syndrome chromosomal region 20A protein; Williams-Beuren syndrome critical region protein 20 copy A
Gene Aliases: NOL1; NOL1R; NSUN5; NSUN5A; p120; p120(NOL1); WBSCR20; WBSCR20A
UniProt ID: (Human) Q96P11
Entrez Gene ID: (Human) 55695