CFP

This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]

Description

Complement factor properdin

Tissue specificity

Group enriched (bone marrow, lymphoid tissue)

Subcell location

Vesicles

Predicted location

Intracellular, Secreted to blood

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (47623172 - 47630305)

Ensembl ID

ENSG00000126759  (ver. 103.38)

Orthologs

Mouse Cfp: ENSMUSG00000001128

UniProt

P27918

neXtProt

NX_P27918

Human splice variants
Mouse splice variants

Protein structure