Human Gene CFI (ENST00000394634.7) from GENCODE V44
Description: Homo sapiens complement factor I (CFI), transcript variant 13, non-coding RNA. (from RefSeq NR_164673) RefSeq Summary (NM_000204): This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]. Gencode Transcript: ENST00000394634.7 Gencode Gene: ENSG00000205403.15 Transcript (Including UTRs) Position: hg38 chr4:109,740,695-109,801,999 Size: 61,305 Total Exon Count: 13 Strand: - Coding Region Position: hg38 chr4:109,740,893-109,801,971 Size: 61,079 Coding Exon Count: 13
ID:CFAI_HUMAN DESCRIPTION: RecName: Full=Complement factor I; EC=3.4.21.45; AltName: Full=C3B/C4B inactivator; Contains: RecName: Full=Complement factor I heavy chain; Contains: RecName: Full=Complement factor I light chain; Flags: Precursor; FUNCTION: Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively. CATALYTIC ACTIVITY: Inactivates complement subcomponents C3b, iC3b and C4b by proteolytic cleavage. SUBUNIT: Heterodimer of a light and heavy chains linked by disulfide bonds. SUBCELLULAR LOCATION: Secreted, extracellular space. TISSUE SPECIFICITY: Plasma. DISEASE: Defects in CFI are a cause of susceptibility to hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]. An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Note=Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype. DISEASE: Defects in CFI are the cause of complement factor I deficiency (CFI deficiency) [MIM:610984]. CFI deficiency is an autosomal recessive condition associated with a propensity to pyogenic infections. SIMILARITY: Belongs to the peptidase S1 family. SIMILARITY: Contains 1 Kazal-like domain. SIMILARITY: Contains 2 LDL-receptor class A domains. SIMILARITY: Contains 1 peptidase S1 domain. SIMILARITY: Contains 1 SRCR domain. SEQUENCE CAUTION: Sequence=CAA68416.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=CFIbase; Note=CFI mutation db; URL="http://bioinf.uta.fi/CFIbase/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFI";
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 P05156
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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
