Recombinant Human Putative methyltransferase NSUN5 (NSUN5)

Uniprot Id

Q96P11

Target Species

Human

Target Name

NSUN5

Target Full Name

28S rRNA (cytosine-C(5))-methyltransferase

Target Function

S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) 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.

Target Involvement

NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region. 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.

Target Subcellular Location

Nucleus, nucleolus.

Target Protein Families

Class I-like SAM-binding methyltransferase superfamily, RsmB/NOP family

Target Tissue Specificity

Ubiquitous. Detected in placenta, heart and skeletal muscle.

Target Synonyms

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

Target Background

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.