rRNA 2'-O-methyltransferase fibrillarin; 34 kD nucleolar scleroderma antigen (FBL, FIB1, FLRN)
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Introduction
the name derives from the antigen localization in the dense fibrillar component of nucleoli
Function
- role in pre-rRNA processing
- utilizes the methyl donor S-adenosyl-L-methionine to catalyze 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
- by homology to other fibrillarins, some or all of the N-terminal domain Arg are modified to asymmetric dimethylarginine (DMA)
- interacts with NOLC1 (putative)
- component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles that contain NHP2L1, FBL, NOP5 & NOP56, plus a guide RNA
- associated with the U3 snRNP, U8 snRNP, U13 snRNP, X & Y small nuclear RNAs
- component of several ribosomal & nucleolar protein complexes interacts with PRMT5
Structure
belongs to the fibrillarin family
Compartment
Pathology
- antisera from ~8% of humans with scleroderma recognize fibrillarin
- antibodies to fibrillin are seen in young men with scleroderma & minimal joint involvement
- associated with poor outcomes in scleroderma
- scleroderma complicated by pulmonary hypertension
- diffuse cutaneous scleroderma
- scleroderma complicated by myositis
Laboratory
More general terms
Additional terms
Component of
References
- ↑ Clinical Diagnosis & Management by Laboratory Methods, 19th edition, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1996, pg 1019
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2091
- ↑ UniProt http://www.uniprot.org/uniprot/P22087.html
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 16, 17 American College of Physicians, Philadelphia 2012, 2015