Description: Homo sapiens complement factor B (CFB), mRNA. RefSeq Summary (NM_001710): This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr6:31,913,721-31,918,422 Size: 4,702 Total Exon Count: 12 Strand: + Coding Region Position: hg19 chr6:31,913,999-31,918,422 Size: 4,424 Coding Exon Count: 12
Lupus Erythematosus, Systemic Geoffrey Hom et al. The New England journal of medicine 2008, Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX., The New England journal of medicine.
[PubMed 18204098]
We identified and then confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF00084 - Sushi repeat (SCR repeat) PF00089 - Trypsin PF00092 - von Willebrand factor type A domain PF13519 - von Willebrand factor type A domain
ModBase Predicted Comparative 3D Structure on P00751-2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
