SERPINF1 (serpin family F member 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5176
Gene name Gene Name - the full gene name approved by the HGNC.
Serpin family F member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SERPINF1
Synonyms (NCBI Gene) Gene synonyms aliases
EPC-1, OI12, OI6, PEDF, PIG35
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
MITF Activation 22115973
PARP1 Repression 18312852
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
172860 8824 ENSG00000132386
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Osteogenesis Imperfecta Osteogenesis imperfecta type 6, osteogenesis imperfecta rs193302872, rs1597357740, rs193302871, rs1597357758, rs193302873, rs369314029, rs398122518, rs398122519, rs1908050941, rs398122520, rs869312908, rs1085307634, rs1597352358, rs1597355244 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Hirschsprung Disease Hirschsprung disease, susceptibility to, 1 N/A N/A ClinVar
Osteoporosis osteoporosis N/A N/A ClinVar
Show/Hide Text Mining Associations (104)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Disease Associate 32362107
Adamantinoma Associate 22113968
Adenocarcinoma Inhibit 11788595
Adenoma Villous Associate 31886225
Alopecia Associate 35862273
Alzheimer Disease Associate 25129075
Aortic Valve Stenosis Associate 23704777
Atherosclerosis Inhibit 17593873
Atherosclerosis Associate 23704777, 28420811
Atrophy Stimulate 34051265