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Gene Symbol |
SERPINF1 |
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Aliases |
EPC-1, OI12, OI6, PEDF, PIG35 |
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Entrez Gene ID |
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Gene Name |
Serpin family F member 1 |
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Chromosomal Location |
17p13.3 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
Gene |
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Transcript |
ENST00000254722, ENST00000571360, ENST00000573770, ENST00000576406, ENST00000571149, ENST00000570731, ENST00000577053, ENST00000572048, ENST00000573763, ENST00000633761, ENST00000632258, ENST00000632001, ENST00000632188 |
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Protein |
ENSP00000254722, ENSP00000461660, ENSP00000459107, ENSP00000461214, ENSP00000460905, ENSP00000459869, ENSP00000460842, ENSP00000458484, ENSP00000461405, ENSP00000488386, ENSP00000488572, ENSP00000488890, ENSP00000488345
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Protein Information |
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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 |
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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. |
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UniProt |
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PDB |
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Pfam |
Pfam Accession |
Pfam ID |
PF00079 |
Serpin |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000217961 |
P08842 |
P08842 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Cardiovascular Diseases |
Diabetic Cardiomyopathies |
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Endocrine System Diseases |
PCOS |
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Eye Diseases |
Corneal ulcer |
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Uveitis |
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Musculoskeletal Diseases |
Osteogenesis Imperfecta |
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Neoplasms |
Adenoid Cystic Carcinoma |
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Salivary Gland Neoplasms |
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Prostate cancer |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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PCOS, Insulin resistance |
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Rotterdam criteria |
Related
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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 |
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