Version 5.4
Homo sapiens Protein: CFHR5
Summary
InnateDB Protein IDBP-105539.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CFHR5
Protein Name complement factor H-related 5
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000256785
InnateDB Gene IDBG-105535 (CFHR5)
Protein Structure
UniProt Annotation
Function Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. {ECO:0000269PubMed:23487775}.
Subcellular Localization Secreted.
Disease Associations Note=Defects in CFHR5 have been found in patients with atypical hemolytic uremic syndrome and may contribute to the disease. Atypical hemolytic uremic syndrome 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. Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype. {ECO:0000269PubMed:20513133, ECO:0000269PubMed:22622361}.CFHR5 deficiency (CFHR5D) [MIM:614809]: A progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections. {ECO:0000269PubMed:20800271, ECO:0000269PubMed:22503529}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed by the liver and secreted in plasma.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006957 complement activation, alternative pathway
Cellular Component
GO:0005576 extracellular region
Protein Structure and Domains
PDB ID
InterPro IPR000436 Sushi/SCR/CCP
PFAM PF00084
PRINTS
PIRSF
SMART SM00032
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BXR6
PhosphoSite PhosphoSite-Q9BXR6
TrEMBL Q5VYL6
UniProt Splice Variant
Entrez Gene 81494
UniGene Hs.282594
RefSeq NP_110414
HUGO HGNC:24668
OMIM 608593
CCDS CCDS1387
HPRD 06508
IMGT
EMBL AF295327 AL139418 AL353809 BC111773
GenPept AAI11774 AAK15619

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca