Recombinant Human Putative ribosomal RNA methyltransferase 1 (FTSJ1)

Uniprot Id

Q9UET6

Target Species

Human

Target Name

FTSJ1

Target Full Name

tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase

Target Function

Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs.

Target Involvement

Mental retardation, X-linked 44 (MRX44)

Target Subcellular Location

Cytoplasm.

Target Protein Families

Class I-like SAM-binding methyltransferase superfamily, RNA methyltransferase RlmE family, TRM7 subfamily

Target Tissue Specificity

Found in fetal brain, lung, liver and kidney. In the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus.

Target Research Area

Epigenetics and Nuclear Signaling

Target Synonyms

CDLIV; FTSJ 1; FtsJ homolog 1 (E. coli); FtsJ homolog 1; FtsJ RNA methyltransferase homolog 1; FTSJ1; JM23; Mental retardation X linked 44; Mental retardation X linked 9; MRX44 ; MRX9; Protein ftsJ homolog 1; Putative ribosomal RNA methyltransferase 1; RRMJ1; RRMJ1_HUMAN; rRNA (uridine 2' O ) methyltransferase ; rRNA (uridine-2''-O-)-methyltransferase; SPB1; TRM7

Target Background

This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants.