SERPINF1

Gene Information
 
Gene Symbol
SERPINF1
 
Aliases
EPC-1, OI12, OI6, PEDF, PIG35
 
Entrez Gene ID
 
Gene Name
Serpin family F member 1
 
Chromosomal Location
17p13.3
 
HGNC ID
 
Summary
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0010951 Biological process Negative regulation of endopeptidase activity IBA 21873635
GO:0016525 Biological process Negative regulation of angiogenesis IDA 11562499
GO:0050769 Biological process Positive regulation of neurogenesis IDA 8226833
GO:0005576 Cellular component Extracellular region IDA 12737624
GO:0005615 Cellular component Extracellular space HDA 20551380
Protein Information
 
Protein Name
Pigment epithelium-derived factor, alpha-2 antiplasmin, cell proliferation-inducing gene 35 protein, serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1, serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1, testis tissue sperm-binding protein Li 70n
 
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.
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00079 Serpin
Pathways
 
KEGG
 
 

Wnt signaling pathway

 

Interactions
 
STRING MINT IntAct
ENSP00000217961 P08842 P08842
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Diabetic Cardiomyopathies
Endocrine System Diseases
PCOS
Eye Diseases
Corneal ulcer
Uveitis
Musculoskeletal Diseases
Osteogenesis Imperfecta
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS, Insulin resistance 
 
Rotterdam criteria 
Related 
96 PCOS women, 63 controls 
The serum PEDF level is elevated in women with PCOS and is associated with IR. PEDF may play a role in the pathogenesis of IR in PCOS 

| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412