Aliases for FBL Gene
External Ids for FBL Gene
Previous GeneCards Identifiers for FBL Gene
This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]
GeneCards Summary for FBL Gene
FBL (Fibrillarin) is a Protein Coding gene. Diseases associated with FBL include van maldergem syndrome 1 and systemic scleroderma. Among its related pathways are Gene Expression and TNF-alpha/NF-kB Signaling Pathway. GO annotations related to this gene include poly(A) RNA binding and methyltransferase activity. An important paralog of this gene is FBLL1.
UniProtKB/Swiss-Prot for FBL Gene
S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA. Also acts as a protein methyltransferase by mediating methylation of Gln-105 of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus (PubMed:24352239).