CFHR5

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

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)[1] Band 1q31.3 Start 196,977,556 bp[1] End 197,009,678 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 196.98 – 197.01 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

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]