Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
rs398122519	->T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant
rs398122520	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312908	CCCGCTGGACTATCACCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1085307634	C>G,T	Pathogenic	Upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant
rs1555571967	->G	Likely-pathogenic	Intron variant, genic upstream transcript variant, upstream transcript variant
rs1597352358	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1597352466	TCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1597355244	G>A	Pathogenic	Coding sequence variant, stop gained
rs1597357740	TTCTCTTCATTGGCAAGATTCTGGACCCCAGGGGCCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597357758	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017228	hsa-miR-335-5p	Microarray	18185580

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Transcription factor	Regulation	Reference
MITF	Activation	22115973
PARP1	Repression	18312852

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
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0007614	Process	Short-term memory	IEA
GO:0010447	Process	Response to acidic pH	IEA
GO:0010596	Process	Negative regulation of endothelial cell migration	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IBA
GO:0016525	Process	Negative regulation of angiogenesis	IDA	11562499
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0030424	Component	Axon	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	28675934
GO:0042470	Component	Melanosome	IEA
GO:0042698	Process	Ovulation cycle	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043203	Component	Axon hillock	IEA
GO:0046685	Process	Response to arsenic-containing substance	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050769	Process	Positive regulation of neurogenesis	IDA	8226833
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060767	Process	Epithelial cell proliferation involved in prostate gland development	IEA
GO:0060770	Process	Negative regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071279	Process	Cellular response to cobalt ion	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:1901652	Process	Response to peptide	IEA

MIM	HGNC	e!Ensembl
172860	8824	ENSG00000132386

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

MQALVLLLCIGALLGHSSCQNPASPPEEGSPDPDSTGALVEEEDPFFKVPVNKLAAAVSN
FGYDLYRVRSSTSPTTNVLLSPLSVATALSALSLGAEQRTESIIHRALYYDLISSPDIHG
TYKELLDTVTAPQKNLKSASRIVFEKKLRIKSSFVAPLEKSYGTRPRVLTGNPRLDLQEI
NNWVQAQMKGKLARSTKEIPDEISILLLGVAHFKGQWVTKFDSRKTSLEDFYLDEERTVR
VPMMSDPKAVLRYGLDSDLSCKIAQLPLTGSMSIIFFLPLKVTQNLTLIEESLTSEFIHD
IDRELKTVQAVLTVPKLKLSYEGEVTKSLQEMKLQSLFDSPDFSKITGKPIKLTQVEHRA
GFEWNEDGAGTTPSPGLQPAHLTFPLDYHLNQPFIFVLRDTDTGALLFIGKILDPRGP

Sequence length

418

Interactions

View interactions

	KEGG
	Wnt signaling pathway

157

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Likely pathogenic	rs765137033	RCV001814404
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs772728968, rs758551389, rs2151212328, rs1908037067, rs1907706259, rs1085307634, rs369314029, rs1908050941	RCV001553763 RCV002307756 RCV001797900 RCV002277841 RCV002308683 RCV004782399 RCV001260289 RCV001260290
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 RCV002249164 RCV002251209 RCV002251234 RCV002290272 RCV005019345 RCV000210473 RCV003988691 RCV004006227 RCV000022716 RCV002280863 RCV000022718 RCV005010404 RCV000034818 RCV000034819 RCV000034820 RCV006257503 RCV000844851 RCV000844853 RCV000844850 RCV000844852 RCV005225223
SERPINF1-related disorder	Likely pathogenic	rs770542903	RCV003399918

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Benign	rs115672275	RCV005911768
Gastric cancer	Uncertain significance	rs146939364	RCV005913791
Hirschsprung disease, susceptibility to, 1	Benign; Likely benign	rs149399910	RCV000508666
Lung cancer	Likely benign	rs78417249	RCV005919327
Osteogenesis imperfecta type III	Conflicting classifications of pathogenicity; Uncertain significance	rs1597352466, rs1597355459, rs759097183	RCV000860004 RCV000860005 RCV000860006
Osteogenesis Imperfecta, Recessive	Uncertain significance; Benign; Likely benign	rs541151948, rs9913583, rs1804148, rs369156271, rs886052646	RCV000327436 RCV000365793 RCV000343481 RCV000375046 RCV000332770
Osteoporosis	Uncertain significance; Conflicting classifications of pathogenicity	rs749212971, rs140512665	RCV001843448 RCV001843423
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs78417249, rs115672275	RCV005919326 RCV005911769
Sarcoma	Likely benign	rs78417249	RCV005919325
See cases	Uncertain significance	rs2543494882	RCV003128506
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign	rs190292375, rs115672275	RCV005930725 RCV005911770

Show/Hide Text Mining Associations (104)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Bone Diseases	Associate	40649977
Brain Neoplasms	Associate	26277786
Breast Neoplasms	Associate	20229034, 36555293
Buschke Lowenstein Tumor	Inhibit	23569025
Calcinosis Cutis	Inhibit	20229034
Carcinogenesis	Associate	32362107
Carcinoma Hepatocellular	Stimulate	19948828
Carcinoma Hepatocellular	Associate	28771223
Carcinoma Non Small Cell Lung	Inhibit	36281945
Carcinoma Squamous Cell	Inhibit	32372761
Choroidal Neovascularization	Associate	15148217
Choroideremia	Inhibit	20027300
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	34347028
Coronary Artery Disease	Associate	28420811
Developmental Disabilities	Associate	34347028
Diabetes Gestational	Inhibit	28112754
Diabetes Mellitus	Associate	22056417
Diabetic Retinopathy	Associate	19223990, 21067572, 25352747, 37820680
Emphysema	Associate	19723343
Fatigue Syndrome Chronic	Associate	16321154
Fractures Bone	Associate	21353196, 27530920, 34283899, 37047644, 40282376
Fractures Compression	Associate	21353196
Fractures Stress	Associate	34283899
Fragile X Syndrome	Associate	34283899
Gastroesophageal Reflux	Associate	33850461
Glioma	Inhibit	12663639
Glioma	Associate	36980858
Glycogen Storage Disease Type II	Associate	19223990
Hemangioma	Associate	29664206
Hemangioma capillary infantile	Associate	29664206
Hyperglycemia	Inhibit	33328159
Hypothermia	Inhibit	26223306
Hypoxia	Inhibit	22457728
Hypoxia Brain	Inhibit	22457728
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	31851564
Idiopathic Pulmonary Fibrosis	Associate	32362107
Infarction	Inhibit	36769107
Inflammation	Associate	16674952
Inflammation	Inhibit	18586837, 28420811
Insulin Resistance	Associate	22457810
Insulin Resistance	Stimulate	23941060
Kidney Diseases	Associate	34051265
Leber Congenital Amaurosis	Associate	10398730, 10711674
Lung Neoplasms	Associate	34194828
Lymphatic Metastasis	Associate	27936049
Macular Degeneration	Associate	19223990, 19503741, 20228934, 30142832
Macular Edema	Associate	17167405
Melanoma	Associate	16422173, 22457728
Melanoma	Inhibit	19767774, 21673604, 26277786
Metabolic Syndrome	Associate	17593873
Multiple Myeloma	Associate	19690192
Musculoskeletal Diseases	Associate	21353196
Myocardial Infarction	Associate	36769107
Nasopharyngeal Carcinoma	Associate	22952803
Necrosis	Associate	18487955
Neoplasm Invasiveness	Stimulate	27936049
Neoplasm Metastasis	Inhibit	18487955
Neoplasm Metastasis	Associate	28771223, 36555293
Neoplasms	Associate	16422173, 18487955, 19948828, 26987032, 29963784, 35409069, 36207479, 36980858
Neoplasms	Inhibit	16899477, 19253105, 19767774, 24424267
Neoplasms Adipose Tissue	Associate	22457810
Neoplasms Bone Tissue	Associate	23853499
Obesity	Associate	22056417, 22457810, 35606786
Osteoarthritis	Associate	35606786
Osteogenesis Imperfecta	Associate	21353196, 21826736, 21829228, 22113968, 27706701, 31204718, 34283899, 37047644, 40282376
Osteogenesis imperfecta type 6	Associate	21826736, 22113968, 23853499, 24519609, 25257953, 27530920, 30076958, 37047644, 40649977
Osteogenesis Imperfecta Type IV	Associate	35550181
Osteogenesis Imperfecta Type V	Associate	24519609
Osteolysis	Inhibit	18487955
Otosclerosis	Associate	27056980
Ovarian Neoplasms	Inhibit	19253105
Ovarian Neoplasms	Associate	36056141, 36207479
Pancreatic Neoplasms	Associate	25550789
Papillary Thyroid Microcarcinoma	Associate	27936049
Pigmentary Disorder Reticulate with Systemic Manifestations	Stimulate	25159325
Pleural Effusion	Inhibit	16899477
Pleural Effusion Malignant	Inhibit	16899477
Polycystic Ovary Syndrome	Stimulate	23941060
Polypoidal Choroidal Vasculopathy	Associate	15148217, 19503741
Pre Eclampsia	Stimulate	24296084
Prostatic Neoplasms	Associate	18433784, 24424267, 26987032
Psoriasis	Inhibit	32372761
Retinoblastoma	Associate	8434014
Small Cell Lung Carcinoma	Inhibit	26277786
Squamous Cell Carcinoma of Head and Neck	Associate	22430805, 34024816
Stomach Neoplasms	Associate	36505458
Thrombosis	Inhibit	28420811
Triple Negative Breast Neoplasms	Associate	31059004, 36555293
Urinary Bladder Neoplasms	Associate	29963784, 36595851
Vascular Diseases	Inhibit	19253105
Vascular System Injuries	Associate	17593873
Vascular System Injuries	Inhibit	28173817
Venous Insufficiency	Stimulate	31886225
Warts	Inhibit	32372761

SERPINF1 (serpin family F member 1)