NSUN5 Recombinant Rabbit Monoclonal Antibody [PSH05-07] (HA722223)

UNIPROT #

Q96P11

PROTEIN NAME

NSUN5

SYNONYMS

FLJ10267 antibody;MGC986 antibody;NOL1 antibody;NOL1-related protein antibody;NOL1/NOP2/Sun domain family member 5 antibody;NOL1R antibody;NOP2/Sun domain family, member 5 antibody;NOP2/Sun domain family, member 5A antibody;NSUN5 antibody;NSUN5_HUMAN antibody;p120 antibody;Putative methyltransferase NSUN5 antibody;WBSCR20 antibody;WBSCR20A antibody;Williams Beuren syndrome chromosome region 20A antibody;Williams-Beuren syndrome chromosomal region 20A protein antibody;Williams-Beuren syndrome critical region protein 20 copy A antibody

SUBCELLULAR LOCATION

Nucleus, nucleolus.

FUNCTION

Putative methyltransferase NSUN5 is an enzyme that in humans is encoded by the NSUN5 gene. S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C5 position of cytosine 3782 (m5C3782) in 28S rRNA. m5C3782 promotes protein translation without affecting ribosome biogenesis and fidelity. Required for corpus callosum and cerebral cortex development (By similarity). This 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 two transcript variants encoding different isoforms.