SERPINF1 (serpin family F member 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5176
Gene name Serpin family F member 1
Gene symbol SERPINF1
Synonyms (NCBI Gene)
EPC-1OI12OI6PEDFPIG35
Chromosome 17
Chromosome location 17p13.3
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 ne
SNPs SNP information provided by dbSNP.
15
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
SNP ID Visualize variation Clinical significance Consequence
rs140512665 C>A,G,T Conflicting-interpretations-of-pathogenicity, uncertain-significance 5 prime UTR variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs143827025 G>C Conflicting-interpretations-of-pathogenicity, uncertain-significance 5 prime UTR variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs193302872 C>G Not-provided, pathogenic Stop gained, coding sequence variant
rs193302873 C>G,T Not-provided, pathogenic Missense variant, stop gained, coding sequence variant
rs398122518 TG>- Pathogenic Frameshift variant, coding sequence variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT017228 hsa-miR-335-5p Microarray 18185580
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
MITF Activation 22115973
PARP1 Repression 18312852
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (38)
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 17032652, 25416956, 25910212, 28514442, 32296183, 33961781
GO:0005576 Component Extracellular region IDA 12737624
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
172860 8824 ENSG00000132386
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36955
Protein name Pigment epithelium-derived factor (PEDF) (Cell proliferation-inducing gene 35 protein) (EPC-1) (Serpin F1)
Protein 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 exh
PDB 1IMV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 56 → 415 Serpin (serine protease inhibitor) Domain
Tissue specificity TISSUE SPECIFICITY: Retinal pigment epithelial cells and blood plasma. {ECO:0000269|PubMed:12737624}.
Sequence
Sequence length 418
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Wnt signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the skeletal system Likely pathogenic rs765137033 RCV001814404
★★★★★
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta Likely pathogenic; Pathogenic rs772728968, rs758551389, rs2151212328, rs1908037067, rs1907706259, rs1085307634, rs369314029, rs1908050941 RCV001553763
RCV002307756
RCV001797900
RCV002277841
RCV002308683
View all (3 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type 6 Pathogenic; Likely pathogenic rs2151212834, rs369973630, rs763291398, rs1272920425, rs1555572921, rs767448036, rs2151213460, rs2543494977, rs1341566934, rs869312908, rs2543470300, rs2543482778, rs193302872, rs193302871, rs193302873
View all (10 more)		 RCV001374459
RCV002073408
RCV001728120
RCV001839466
RCV002250782
View all (21 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SERPINF1-related disorder Likely pathogenic rs770542903 RCV003399918
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (36)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (280)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans BEFREE 22288782
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 30326915
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15150108
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 30841855
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 16361561
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 27431441
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma CTD_human_DG 16762588
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 11727737, 11748590, 15823717, 18226801, 19503741, 19778186, 20678803, 21174599, 21191149, 21386905, 25820866, 26697494, 28452939, 28679845, 29351407
View all (2 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration LHGDN 19223990
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25129075 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations