SERPINF1
Developmental stage
Expressed in quiescent cells.
Domain
The N-terminal (AA 44-121) exhibits neurite outgrowth-inducing activity. The C-terminal exposed loop (AA 382-418) is essential for serpin activity.
Function
Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.
Involvement in disease
Osteogenesis imperfecta 6
OI6
A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The N-terminus is blocked. Extracellular phosphorylation enhances antiangiogenic activity.
N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan.
Sequence Similarities
Belongs to the serpin family.
Tissue Specificity
Retinal pigment epithelial cells and blood plasma.
Cellular localization
- Secreted
- Melanosome
- Enriched in stage I melanosomes.
Alternative names
PEDF, PIG35, SERPINF1, Pigment epithelium-derived factor, Cell proliferation-inducing gene 35 protein, EPC-1, Serpin F1