Human Gene ENSG00000244255 (ENST00000456570.5) from GENCODE V44
Description: Belongs to the peptidase S1 family. (from UniProt B4E1Z4) 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]. Gencode Transcript: ENST00000456570.5 Gencode Gene: ENSG00000244255.5 Transcript (Including UTRs) Position: hg38 chr6:31,927,698-31,952,048 Size: 24,351 Total Exon Count: 30 Strand: + Coding Region Position: hg38 chr6:31,927,753-31,952,030 Size: 24,278 Coding Exon Count: 30
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.
Pfam Domains: PF00084 - Sushi repeat (SCR repeat) PF00089 - Trypsin PF00092 - von Willebrand factor type A domain
ModBase Predicted Comparative 3D Structure on B4E1Z4
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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.