CFHR5

CFHR5
Identifiers
Aliases	CFHR5, CFHL5, CFHR5D, FHR-5, FHR5, complement factor H related 5
External IDs	OMIM: 608593; HomoloGene: 57124; GeneCards: CFHR5; OMA:CFHR5 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	197,009,678 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; testicle; ; gonad; ; kidney; ; blood; ; thoracic segment of trunk; ; structure with developmental contribution from neural crest; ; heart; ; atrium; ; intestine;
	n/a
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; protein homodimerization activity; protein heterodimerization activity;
Cellular component	extracellular region; protein-containing complex;
Biological process	complement activation, alternative pathway; regulation of complement activation; negative regulation of protein binding; positive regulation of cytolysis;
	Sources:Amigo / QuickGO
Orthologs
	81494
	n/a
	ENSG00000134389
	n/a
	Q9BXR6
	n/a
	NM_030787
	n/a
	NP_110414
	n/a
	Wikidata
View/Edit Human

Complement factor H-related protein 5 is a protein that in humans is encoded by the CFHR5 gene.^[3]^[4]^[5]

Function

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.^[6]

Clinical Significance

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.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000134389 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: CFHR5 complement factor H-related 5".
^ 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. doi:10.4049/jimmunol.174.10.6250. PMID 15879123.
^ 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

GeneReviews/NCBI/NIH/UW entry on Dense Deposit Disease/Membranoproliferative Glomerulonephritis Type II
Human CFHR5 genome location and CFHR5 gene details page in the UCSC Genome Browser.

Närkiö-Mäkelä M, Hellwage J, Tahkokallio O, Meri S (2001). "Complement-regulator factor H and related proteins in otitis media with effusion". Clin. Immunol. 100 (1): 118–26. doi:10.1006/clim.2001.5043. PMID 11414752.
Murphy B, Georgiou T, Machet D, et al. (2002). "Factor H-related protein-5: a novel component of human glomerular immune deposits". Am. J. Kidney Dis. 39 (1): 24–7. doi:10.1053/ajkd.2002.29873. PMID 11774097.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
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. doi:10.4049/jimmunol.174.10.6250. PMID 15879123.
Abrera-Abeleda MA, Nishimura C, Smith JL, et al. (2006). "Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)". J. Med. Genet. 43 (7): 582–9. doi:10.1136/jmg.2005.038315. PMC 2564553. PMID 16299065.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Monteferrante G, Brioschi S, Caprioli J, et al. (2007). "Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome". Mol. Immunol. 44 (7): 1704–8. doi:10.1016/j.molimm.2006.08.004. PMID 17000000.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000134389 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11058592-3] 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.

[pmid12041828-4] 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.

[entrez-5] "Entrez Gene: CFHR5 complement factor H-related 5".

[McRae-6] 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. doi:10.4049/jimmunol.174.10.6250. PMID 15879123.

[pmid20800271-7] 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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

Function

Clinical Significance

References

External links

Further reading