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Description for Protein CFH

complement factor H
10 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 5/0)
(membrane: 1; platelet: 2; secretome: 2)
Summary:
This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short concensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • SUSHI: Sushi domain (SCR repeat)
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04004
    KEGG - Pathway(s):
    hsa04610
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    HF1; Beta 1 H globulin; Beta-1H; Complement factor H isoform a; Complement factor H isoform b; Complement system control protein beta 1H; FH; H factor 1; Factor H; FHL1; HF; HF2; CFHL3; Hypothetical protein MGC88246; H factor 2
    Approved Symbol:
    CFH
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Complement factor H deficiency(Pd);
  • Hemolytic uremic syndrome, atypical(Pd);
  • Macular degeneration, age-related, 4(Pd);
  • Membranoproliferative glomerulonephritis with complement factor H deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00601 Entrez Gene ID: 3075 OMIM ID: 134370 Swissprot Accession: P08603;