Description: Homo sapiens complement factor properdin (CFP), transcript variant 2, mRNA. RefSeq Summary (NM_001145252): This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]. Transcript (Including UTRs) Position: hg19 chrX:47,483,612-47,489,369 Size: 5,758 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chrX:47,483,674-47,489,243 Size: 5,570 Coding Exon Count: 9
ID:PROP_HUMAN DESCRIPTION: RecName: Full=Properdin; AltName: Full=Complement factor P; Flags: Precursor; FUNCTION: A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes. SUBCELLULAR LOCATION: Secreted. DISEASE: Defects in CFP are the cause of properdin deficiency (PFD) [MIM:312060]. PFD results in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III). SIMILARITY: Contains 6 TSP type-1 domains. SEQUENCE CAUTION: Sequence=CAA15658.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFP"; WEB RESOURCE: Name=CFPbase; Note=CFP mutation db; URL="http://bioinf.uta.fi/CFPbase/"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pfc/"; WEB RESOURCE: Name=Wikipedia; Note=Properdin entry; URL="http://en.wikipedia.org/wiki/Properdin";
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.
ModBase Predicted Comparative 3D Structure on P27918
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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.