Homo sapiens Gene: CFHR5

Summary
InnateDB Gene IDBG-105535.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol CFHR5
Gene Name complement factor H-related 5
Synonyms CFHL5; CFHR5D; FHR-5; FHR5
Species Homo sapiens
Ensembl Gene ENSG00000134389
Encoded Proteins
IDBP-105537 complement factor H-related 5
IDBP-105539 complement factor H-related 5
Entrez Gene
Summary This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 1: 196946667-196978804
Strand Forward strand
Band q31.3
Transcripts
ENST00000367414  ENSP00000356384
ENST00000256785  ENSP00000256785
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
Accession GO Term
Molecular Function
Biological Process
GO:0006957 complement activation, alternative pathway
Cellular Component
GO:0005576 extracellular region
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9BXR6 
TrEMBL Q5VYL6
UniProt Splice Variant
Entrez Gene 81494 
UniGene Hs.282594
RefSeq NM_030787 
HUGO 24668 
OMIM 608593
CCDS CCDS1387 
HPRD 06508
IMGT
EMBL AF295327 AL139418 AL353809 BC111773
GenPept AAI11774  AAK15619  CAH72548  CAI21982 
ImmGen CFHR5 (murine) 
RNA Seq Atlas 81494