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MGP001560

UniProt Annotations

Entry Information

Gene Name	complement factor I
Protein Entry	CFAI_HUMAN
UniProt ID	P05156
Species	Human

Comments

Comment type	Description
Catalytic Activity	Inactivates complement subcomponents C3b, iC3b and C4b by proteolytic cleavage.
Disease	Complement factor I deficiency (CFI deficiency) [MIM:610984]: Autosomal recessive condition associated with a propensity to pyogenic infections. {ECO:0000269\|PubMed:12562389, ECO:0000269\|PubMed:17018561, ECO:0000269\|PubMed:8613545}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Hemolytic uremic syndrome atypical 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. {ECO:0000269\|PubMed:15173250, ECO:0000269\|PubMed:16621965, ECO:0000269\|PubMed:17106690, ECO:0000269\|PubMed:20513133}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
Disease	Macular degeneration, age-related, 13 (ARMD13) [MIM:615439]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269\|PubMed:23685748}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Function	Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively.
Sequence Caution	Sequence=CAA68416.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity	Belongs to the peptidase S1 family. {ECO:0000255\|PROSITE-ProRule:PRU00274}.
Similarity	Contains 1 Kazal-like domain. {ECO:0000255\|PROSITE- ProRule:PRU00798}.
Similarity	Contains 1 peptidase S1 domain. {ECO:0000255\|PROSITE- ProRule:PRU00274}.
Similarity	Contains 1 SRCR domain. {ECO:0000255\|PROSITE- ProRule:PRU00196}.
Similarity	Contains 2 LDL-receptor class A domains. {ECO:0000255\|PROSITE-ProRule:PRU00124}.
Subcellular Location	Secreted, extracellular space.
Subunit	Heterodimer of a light and heavy chains; disulfide- linked. The fully processed and mature protein circulates as a zymogen, and is allosterically activated by substrate-induced remodeling of the active site. {ECO:0000269\|PubMed:21768352}.
Tissue Specificity	Plasma.
Web Resource	Name=CFIbase; Note=CFI mutation db; URL="http://structure.bmc.lu.se/idbase/CFIbase/";