• Gene id: 5176

Gene Summary

• Gene Symbol: SERPINF1   Gene   UCSC   Ensembl
• Aliases: EPC-1, OI12, OI6, PEDF, PIG35
• Gene name: serpin family F member 1
• Alternate names: 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 (al,
• Gene location: 17p13.3 (1761924: 1777573)     Exons: 9     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 612202

Protein Summary

• Protein general information: P36955  
  • Name: Pigment epithelium derived factor (PEDF) (Cell proliferation inducing gene 35 protein) (EPC 1) (Serpin F1)
  • Length: 418  
  • Mass: 46312
  • Tissue specificity: Retinal pigment epithelial cells and blood plasma. {ECO
• Sequence:

  MQALVLLLCIGALLGHSSCQNPASPPEEGSPDPDSTGALVEEEDPFFKVPVNKLAAAVSNFGYDLYRVRSSTSPT
  TNVLLSPLSVATALSALSLGAEQRTESIIHRALYYDLISSPDIHGTYKELLDTVTAPQKNLKSASRIVFEKKLRI
  KSSFVAPLEKSYGTRPRVLTGNPRLDLQEINNWVQAQMKGKLARSTKEIPDEISILLLGVAHFKGQWVTKFDSRK
  TSLEDFYLDEERTVRVPMMSDPKAVLRYGLDSDLSCKIAQLPLTGSMSIIFFLPLKVTQNLTLIEESLTSEFIHD
  IDRELKTVQAVLTVPKLKLSYEGEVTKSLQEMKLQSLFDSPDFSKITGKPIKLTQVEHRAGFEWNEDGAGTTPSP
  GLQPAHLTFPLDYHLNQPFIFVLRDTDTGALLFIGKILDPRGP

• Structural information:
  • Interpro: IPR033832  IPR023795  IPR023796  IPR000215  IPR036186   IPR042178  IPR042185  
  • Prosite: PS00284
  • CDD: cd02052
  • PDB: 1IMV
  • PDBsum: 1IMV
  • STRING: ENSP00000254722
• Other Databases: GeneCards:  SERPINF1  Malacards:  SERPINF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0016525	negative regulation of angiogenesis	IEA	biological process
GO:0050769	positive regulation of neurogenesis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060770	negative regulation of epithelial cell proliferation involved in prostate gland development	IEA	biological process
GO:0016525	negative regulation of angiogenesis	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0042698	ovulation cycle	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0010596	negative regulation of endothelial cell migration	IEA	biological process
GO:0010447	response to acidic pH	IEA	biological process
GO:0007614	short-term memory	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0001822	kidney development	IEA	biological process
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0046685	response to arsenic-containing substance	IEA	biological process
GO:0043203	axon hillock	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0071549	cellular response to dexamethasone stimulus	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:0071279	cellular response to cobalt ion	IEA	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0016525	negative regulation of angiogenesis	IDA	biological process
GO:0005576	extracellular region	IDA	cellular component
GO:0050769	positive regulation of neurogenesis	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Osteogenesis imperfecta	KEGG:H00506
Osteogenesis imperfecta	KEGG:H00506
Retinitis pigmentosa	PMID:18837062
Corneal neovascularization	PMID:19596319
Sciatic neuropathy	PMID:10441236
leukostasis	PMID:16797605
Diabetic retinopathy	PMID:15059706
Diabetic retinopathy	PMID:11723044
venous tributary occlusion of retina	PMID:20714746
Retinal vein occlusion	PMID:21275514
nephroblastoma	PMID:16863836
Transient cerebral ischemia	PMID:18624913
Endometriosis	PMID:23466670
Amyotrophic lateral sclerosis	PMID:12067231
Osteosarcoma	PMID:17458711
Macular degeneration	PMID:16019000
macular retinal edema	PMID:20714746
Brain edema	PMID:17692294
ovarian hyperstimulation syndrome	PMID:23295464
retinoblastoma	PMID:19832843
Retinal degeneration	PMID:10600408
Diabetic retinopathy	PMID:19365032
Diabetic retinopathy	PMID:17658465
type 2 diabetes mellitus	PMID:18715664
type 2 diabetes mellitus	PMID:24530621
type 1 diabetes mellitus	PMID:17971181
obesity	PMID:17491674
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq