CFHR5

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Complement factor H-related 5
Identifiers
Symbols CFHR5 ; CFHL5; CFHR5D; FHR-5; FHR5
External IDs OMIM608593 HomoloGene57124 GeneCards: CFHR5 Gene
RNA expression pattern
PBB GE CFHR5 208088 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 81494 n/a
Ensembl ENSG00000134389 n/a
UniProt Q9BXR6 n/a
RefSeq (mRNA) NM_030787 n/a
RefSeq (protein) NP_110414 n/a
Location (UCSC) Chr 1:
196.95 – 196.98 Mb
n/a
PubMed search [1] n/a

Complement factor H-related protein 5 is a protein that in humans is encoded by the CFHR5 gene.[1][2][3]

Function[edit]

CFHR5 is structurally related to complement factor H which plays an important role in the regulation of a branch of the innate immune system called the alternative complement pathway. Like complement factor H, CFHR5 is able to bind to complement C3.[4]

Clinical Significance[edit]

A mutation in CHFR5 was found in patients with the disease CFHR5 nephropathy, which is a common cause of renal disease in Cyprus. The mutated form of the protein found in patients with this disease has impaired ability to bind to complement C3, suggesting that CFHR5 is important in protecting the kidneys from attack by the complement system.[5]

References[edit]

  1. ^ McRae JL, Cowan PJ, Power DA, Mitchelhill KI, Kemp BE, Morgan BP, Murphy BF (Mar 2001). "Human factor H-related protein 5 (FHR-5). A new complement-associated protein". J Biol Chem 276 (9): 6747–54. doi:10.1074/jbc.M007495200. PMID 11058592. 
  2. ^ McRae JL, Murphy BE, Eyre HJ, Sutherland GR, Crawford J, Cowan PJ (Jun 2002). "Location and structure of the human FHR-5 gene". Genetica 114 (2): 157–61. doi:10.1023/A:1015114512924. PMID 12041828. 
  3. ^ "Entrez Gene: CFHR5 complement factor H-related 5". 
  4. ^ McRae JL, Duthy TG, Griggs KM, et al. (2005). "Human factor H-related protein 5 has cofactor activity, inhibits C3 convertase activity, binds heparin and C-reactive protein, and associates with lipoprotein.". J. Immunol. 174 (10): 6250–6. PMID 15879123. 
  5. ^ Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC (September 2010). "Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis". Lancet 376 (9743): 794–801. doi:10.1016/S0140-6736(10)60670-8. PMC 2935536. PMID 20800271. 

External links[edit]

Further reading[edit]