CFHR5

Protein identityUniProt · HPA

UniProt accession

Q9BXR6

Gene

CFHR5

Ensembl

ENSG00000134389

Chromosome

1

Canonical length

569 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to blood

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

569 residues, UniProt reviewed canonical sequence.

>Q9BXR6|CFHR5
     1  MLLLFSVILI SWVSTVGGEG TLCDFPKIHH GFLYDEEDYN PFSQVPTGEV FYYSCEYNFV
    61  SPSKSFWTRI TCTEEGWSPT PKCLRMCSFP FVKNGHSESS GLIHLEGDTV QIICNTGYSL
   121  QNNEKNISCV ERGWSTPPIC SFTKGECHVP ILEANVDAQP KKESYKVGDV LKFSCRKNLI
   181  RVGSDSVQCY QFGWSPNFPT CKGQVRSCGP PPQLSNGEVK EIRKEEYGHN EVVEYDCNPN
   241  FIINGPKKIQ CVDGEWTTLP TCVEQVKTCG YIPELEYGYV QPSVPPYQHG VSVEVNCRNE
   301  YAMIGNNMIT CINGIWTELP MCVATHQLKR CKIAGVNIKT LLKLSGKEFN HNSRIRYRCS
   361  DIFRYRHSVC INGKWNPEVD CTEKREQFCP PPPQIPNAQN MTTTVNYQDG EKVAVLCKEN
   421  YLLPEAKEIV CKDGRWQSLP RCVESTAYCG PPPSINNGDT TSFPLSVYPP GSTVTYRCQS
   481  FYKLQGSVTV TCRNKQWSEP PRCLDPCVVS EENMNKNNIQ LKWRNDGKLY AKTGDAVEFQ
   541  CKFPHKAMIS SPPFRAICQE GKFEYPICE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFHR5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

156 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFHR5.

Disease | AllUniProt

Conditions CFHR5 is implicated in, by any mechanism.

• CFHR5 deficiency (CFHR5D) MIM:614809

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 367 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• C3 glomerulonephritis

Disease | ImmuneIEDB

Conditions an epitope on CFHR5 was assayed in.

• rheumatoid arthritis B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.83

gnomAD pLI

0

gnomAD missense Z

-0.9

DepMap mean gene effect

0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• complement activation
• complement activation, alternative pathway
• cytolysis by host of symbiont cells
• negative regulation of protein binding

Molecular functions

• complement component C3b binding
• identical protein binding
• protein heterodimerization activity

Cellular components

• extracellular region
• extracellular space
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Sushi/SCR/CCP domain
• Sushi/SCR/CCP superfamily
• Complement System Regulators and Virion Entry Mediators
• Sushi repeat (SCR repeat)

KeywordsUniProt

• Disulfide bond
• Glycoprotein
• Hemolytic uremic syndrome
• Repeat
• Secreted
• Signal
• Sushi