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MGP001433

UniProt Annotations

Entry Information
Gene Namecomplement factor H
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P08603-1; Sequence=Displayed; Name=2; Synonyms=FHL-1; IsoId=P08603-2; Sequence=VSP_001190, VSP_001191;
CautionAccording to a report, Asn-217 is not glycosylated (PubMed:17591618). Another study observed glycosylation at this position (PubMed:19139490). {ECO:0000305|PubMed:17591618, ECO:0000305|PubMed:19139490}.
DiseaseBasal laminar drusen (BLD) [MIM:126700]: Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss. {ECO:0000269|PubMed:18252232}. Note=The gene represented in this entry is involved in disease pathogenesis.
DiseaseComplement factor H deficiency (CFHD) [MIM:609814]: A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome. {ECO:0000269|PubMed:10803850, ECO:0000269|PubMed:11158219, ECO:0000269|PubMed:11170895, ECO:0000269|PubMed:11170896, ECO:0000269|PubMed:12020532, ECO:0000269|PubMed:14978182, ECO:0000269|PubMed:16612335, ECO:0000269|PubMed:9312129}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]: 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:10577907, ECO:0000269|PubMed:10762557, ECO:0000269|PubMed:11851332, ECO:0000269|PubMed:12960213, ECO:0000269|PubMed:14583443, ECO:0000269|PubMed:14978182, ECO:0000269|PubMed:20513133, ECO:0000269|PubMed:9551389}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
DiseaseMacular degeneration, age-related, 4 (ARMD4) [MIM:610698]: 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:22019782}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
FunctionFactor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway.
InteractionP01024:C3; NbExp=2; IntAct=EBI-1223708, EBI-6863106; P16946:ennX (xeno); NbExp=2; IntAct=EBI-1223708, EBI-6403567;
Sequence CautionSequence=CAB41739.1; Type=Frameshift; Positions=341; Evidence={ECO:0000305};
SimilarityContains 20 Sushi (CCP/SCR) domains. {ECO:0000255|PROSITE-ProRule:PRU00302}.
Subcellular LocationSecreted.
Tissue SpecificityExpressed by the liver and secreted in plasma.
Web ResourceName=CFHbase; Note=CFH mutation db; URL="http://structure.bmc.lu.se/idbase/CFHbase/";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cfh/";
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