CFHR5 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
CFHR5
Official Name
complement factor H related 5 [Source:HGNC Symbol;Acc:HGNC:24668]
Ensembl ID
ENSG00000134389
Bio databases IDs NCBI: 81494 Ensembl: ENSG00000134389
Aliases complement factor H related 5, factor H related protein 5
Synonyms CFHL5, CFHR5D, complement factor H related 5, FHR-5
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CFHR5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • CCP
  • protein binding
  • Sushi repeat (SCR repeat)
  • identical protein binding
  • protein heterodimerization
  • SUSHI repeat

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • COVID-19
  • glomerulonephritis C3
  • asthma
  • Alzheimer disease
  • atypical hemolytic uremic syndrome
  • age-related macular degeneration
  • CFHR5 deficiency
regulated by
  • Hepatitis B virus subtype ayw
  • ENV
regulates

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • plasma
  • glomerular basement membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CFHR5 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • complement activation
  • complement activation, alternative pathway
  • cytolysis by host of symbiont cells
  • negative regulation of protein binding

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • macromolecular complex
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • complement component C3b binding
  • identical protein binding
  • protein binding
  • protein heterodimerization activity

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