Endometriosis Knowledgebase

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Gene id

5176

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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, 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, p,

Gene location

17p13.3 (1761964: 1777564) 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 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]

OMIM

172860

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: 46,312

Tissue specificity: Retinal pigment epithelial cells and blood plasma. {ECO

Sequence

MQALVLLLCIGALLGHSSCQNPASPPEEGSPDPDSTGALVEEEDPFFKVPVNKLAAAVSNFGYDLYRVRSSTSPT
TNVLLSPLSVATALSALSLGAEQRTESIIHRALYYDLISSPDIHGTYKELLDTVTAPQKNLKSASRIVFEKKLRI
KSSFVAPLEKSYGTRPRVLTGNPRLDLQEINNWVQAQMKGKLARSTKEIPDEISILLLGVAHFKGQWVTKFDSRK
TSLEDFYLDEERTVRVPMMSDPKAVLRYGLDSDLSCKIAQLPLTGSMSIIFFLPLKVTQNLTLIEESLTSEFIHD
IDRELKTVQAVLTVPKLKLSYEGEVTKSLQEMKLQSLFDSPDFSKITGKPIKLTQVEHRAGFEWNEDGAGTTPSP
GLQPAHLTFPLDYHLNQPFIFVLRDTDTGALLFIGKILDPRGP

Structural information

Interpro:	IPR033832 IPR023795 IPR023796 IPR000215
Prosite:	PS00284
Pfam:	PF00079
CDD:	cd02052
PDB:	1IMV
PDBsum:	1IMV
MINT:	7711036
STRING:	ENSP00000254722;

Other Databases

GeneCards: SERPINF1; Malacards: SERPINF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001822	kidney development	IEA	biological_process
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IDA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0007568	aging	IEA	biological_process
GO:0007614	short-term memory	IEA	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0010447	response to acidic pH	IEA	biological_process
GO:0010596	negative regulation of en dothelial cell migration	IEA	biological_process
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IEA	biological_process
GO:0010976	positive regulation of ne uron projection developme nt	IEA	biological_process
GO:0016525	negative regulation of an giogenesis	IDA	biological_process
GO:0042470	melanosome	IEA	cellular_component
GO:0042698	ovulation cycle	IEA	biological_process
GO:0043203	axon hillock	IEA	cellular_component
GO:0046685	response to arsenic-conta ining substance	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0050728	negative regulation of in flammatory response	IEA	biological_process
GO:0050769	positive regulation of ne urogenesis	IDA	biological_process
GO:0060041	retina development in cam era-type eye	IEA	biological_process
GO:0060770	negative regulation of ep ithelial cell proliferati on involved in prostate g land development	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071279	cellular response to coba lt ion	IEA	biological_process
GO:0071300	cellular response to reti noic acid	IEA	biological_process
GO:0071333	cellular response to gluc ose stimulus	IEA	biological_process
GO:0071549	cellular response to dexa methasone stimulus	IEA	biological_process
GO:1901215	negative regulation of ne uron death	IEA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0001822	kidney development	IEA	biological_process
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IDA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0007568	aging	IEA	biological_process
GO:0007614	short-term memory	IEA	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0010447	response to acidic pH	IEA	biological_process
GO:0010596	negative regulation of en dothelial cell migration	IEA	biological_process
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IEA	biological_process
GO:0010976	positive regulation of ne uron projection developme nt	IEA	biological_process
GO:0016525	negative regulation of an giogenesis	IEA	biological_process
GO:0016525	negative regulation of an giogenesis	IDA	biological_process
GO:0030424	axon	IEA	cellular_component
GO:0042470	melanosome	IEA	cellular_component
GO:0042698	ovulation cycle	IEA	biological_process
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0043203	axon hillock	IEA	cellular_component
GO:0046685	response to arsenic-conta ining substance	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0050728	negative regulation of in flammatory response	IEA	biological_process
GO:0050769	positive regulation of ne urogenesis	IDA	biological_process
GO:0060041	retina development in cam era-type eye	IEA	biological_process
GO:0060770	negative regulation of ep ithelial cell proliferati on involved in prostate g land development	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071279	cellular response to coba lt ion	IEA	biological_process
GO:0071300	cellular response to reti noic acid	IEA	biological_process
GO:0071333	cellular response to gluc ose stimulus	IEA	biological_process
GO:0071549	cellular response to dexa methasone stimulus	IEA	biological_process
GO:1901215	negative regulation of ne uron death	IEA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0016525	negative regulation of an giogenesis	IDA	biological_process
GO:0050769	positive regulation of ne urogenesis	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component

KEGG pathways

hsa04310 Wnt signaling pathway

Diseases

Associated diseases	References
Endometriosis	PMID: 22051848
Macular degeneration	PMID: 19223990
Endometriosis	INFBASE22819570
Osteogenesis imperfecta	KEGG: H00506, OMIM: 172860
Polycystic ovary syndrome (PCOS)	PMID: 21209034
Retinopathy	PMID: 18787502

PubMed references

PMID	Condition	Population details	Associated_genes	Abstract
22051848	Endometrio sis	71 (43 with end ometriosis, 28 without endomet riosis)		Show abstract
22819570	Endometrio sis	60 (40 women wi th ovarian endo metriosis, 20 c ontrol women)	PEDF	Show abstract
21122834	Endometrio sis	72 (42 patients with endometri osis, 30 patien ts without endo metriosis)	PEDF	Show abstract