FBL

Description

The FBL (fibrillarin) is a protein-coding gene located on chromosome 19.

FBL may refer to:

FBL (Fibrillarin) is a S-adenosyl-L-methionine-dependent methyltransferase that can modify both RNA and protein substrates. It plays a crucial role in pre-ribosomal RNA (pre-rRNA) processing by catalyzing the specific 2'-hydroxyl methylation of ribose moieties within pre-rRNA. This methylation is guided by a specific RNA sequence that base pairs with the substrate, ensuring proper positioning of the methylation event. FBL is also involved in the methylation of U6 small nuclear RNA (snRNA) within box C/D ribonucleoprotein (RNP) complexes, a process essential for accurate mRNA splicing. Furthermore, FBL acts as a protein methyltransferase, mediating the methylation of glutamine 105 (Gln-105) on histone H2A (H2AQ104me). This modification disrupts the binding of the FACT complex and is specifically associated with the 35S ribosomal DNA locus. FBL is a component of the small subunit (SSU) processome, a complex involved in the early steps of ribosome biogenesis. Within the nucleolus, the SSU processome assembles, bringing together various ribosome biogenesis factors, an RNA chaperone, and ribosomal proteins. These components collaborate to facilitate RNA folding, modifications, rearrangements, and cleavages, as well as the targeted degradation of pre-ribosomal RNA by the RNA exosome.

FBL is also known as FIB, FLRN, Nop1, RNU3IP1.

Associated Diseases

WES Whole Exome Sequencing