ribosomal RNA methyltransferase 1; protein ftsJ homolog 1; rRNA (uridine-2'-O-)-methyltransferase-1 (FTSJ1)

Function

S-adenosyl-L-methionine + rRNA = S-adenosyl-L-homocysteine + rRNA containing 2'-O-methyluridine

Structure

• belongs to the methyltransferase superfamily, RlmE family

Alternative splicing

named isoforms=2

Expression

• found in fetal brain, lung, liver & kidney
• in the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus & thalamus

Pathology

• defects in FTSJ1 are the cause of mental retardation X-linked type 44

More general terms

• methyltransferase
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=24140
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:24140
• OMIM: https://mirror.omim.org/entry/300499
• OMIM: https://mirror.omim.org/entry/309549
• UniProt: http://www.uniprot.org/uniprot/Q9UET6.html