ID:PEDF_HUMAN DESCRIPTION: RecName: Full=Pigment epithelium-derived factor; Short=PEDF; AltName: Full=Cell proliferation-inducing gene 35 protein; AltName: Full=EPC-1; AltName: Full=Serpin F1; Flags: Precursor; 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. SUBCELLULAR LOCATION: Secreted. Melanosome. Note=Enriched in stage I melanosomes. TISSUE SPECIFICITY: Retinal pigment epithelial cells and blood plasma. 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. PTM: The N-terminus is blocked. Extracellular phosphorylation enhances antiangiogenic activity. PTM: N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan. DISEASE: Defects in SERPINF1 are the cause of osteogenesis imperfecta type 12 (OI12) [MIM:613982]. OI12 is a connective tissue disorder characterized by bone fragility, low bone mass, and recurrent fractures. OI12 is characterized by features compatible with osteogenesis imperfecta type III in the Sillence classification. Patients have normal grayish sclerae and fractures of long bones and severe vertebral compression fractures, with resulting deformities observed as early as the first year of life. SIMILARITY: Belongs to the serpin family. SEQUENCE CAUTION: Sequence=AAA84914.1; Type=Frameshift; Positions=356; Sequence=AAA93524.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P36955
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004867 serine-type endopeptidase inhibitor activity GO:0005515 protein binding
Biological Process: GO:0001822 kidney development GO:0007275 multicellular organism development GO:0007568 aging GO:0007614 short-term memory GO:0008283 cell proliferation GO:0010447 response to acidic pH GO:0010596 negative regulation of endothelial cell migration GO:0010629 negative regulation of gene expression GO:0010951 negative regulation of endopeptidase activity GO:0010976 positive regulation of neuron projection development GO:0016525 negative regulation of angiogenesis GO:0042698 ovulation cycle GO:0046685 response to arsenic-containing substance GO:0050728 negative regulation of inflammatory response GO:0050769 positive regulation of neurogenesis GO:0060041 retina development in camera-type eye GO:0060770 negative regulation of epithelial cell proliferation involved in prostate gland development GO:0071279 cellular response to cobalt ion GO:0071300 cellular response to retinoic acid GO:0071333 cellular response to glucose stimulus GO:0071549 cellular response to dexamethasone stimulus GO:1901215 negative regulation of neuron death
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
