SERPINF1

This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]

Full Name

Serpin Family F Member 1

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.

Biological Process

Biological Process agingIEA:Ensembl
Biological Process cellular response to cobalt ionIEA:Ensembl
Biological Process cellular response to dexamethasone stimulusIEA:Ensembl
Biological Process cellular response to glucose stimulusIEA:Ensembl
Biological Process cellular response to retinoic acidIEA:Ensembl
Biological Process epithelial cell proliferation involved in prostate gland developmentIEA:Ensembl
Biological Process kidney developmentIEA:Ensembl
Biological Process negative regulation of angiogenesisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of endopeptidase activityManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of endothelial cell migrationIEA:Ensembl
Biological Process negative regulation of epithelial cell proliferation involved in prostate gland developmentIEA:Ensembl
Biological Process negative regulation of gene expressionIEA:Ensembl
Biological Process negative regulation of inflammatory responseIEA:Ensembl
Biological Process negative regulation of neuron deathIEA:Ensembl
Biological Process ovulation cycleIEA:Ensembl
Biological Process positive regulation of neurogenesisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of neuron projection developmentIEA:Ensembl
Biological Process response to acidic pHIEA:Ensembl
Biological Process response to arsenic-containing substanceIEA:Ensembl
Biological Process response to peptideIEA:Ensembl
Biological Process retina development in camera-type eyeIEA:Ensembl
Biological Process short-term memoryIEA:Ensembl

Cellular Location

Secreted
Melanosome
Enriched in stage I melanosomes.

Involvement in disease

Osteogenesis imperfecta 6 (OI6):
A form of osteogenesis imperfecta, a connective tissue disorder 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.

PTM

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.