SERPINF1 (serpin family F member 1)

Gene

• Entrez ID: 5176
• Gene name: Serpin family F member 1
• Gene symbol: SERPINF1
• Synonyms: EPC-1, OI12, OI6, PEDF, PIG35
• 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 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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
MITF	Activation	22115973
PARP1	Repression	18312852

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 32296183
GO:0005576	Component	Extracellular region	IDA	12737624
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0007568	Process	Aging	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:0010951	Process	Negative regulation of endopeptidase activity	IBA	21873635
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IDA	11562499
GO:0042470	Component	Melanosome	IEA
GO:0042698	Process	Ovulation cycle	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:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050769	Process	Positive regulation of neurogenesis	IDA	8226833
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060770	Process	Negative regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
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:1901215	Process	Negative regulation of neuron death	IEA
GO:1901652	Process	Response to peptide	IEA

Other IDs

• MIM: 172860
• HGNC: 8824
• e!Ensembl: ENSG00000132386

Protein

• 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

• Sequence:

  MQALVLLLCIGALLGHSSCQNPASPPEEGSPDPDSTGALVEEEDPFFKVPVNKLAAAVSN
  FGYDLYRVRSSTSPTTNVLLSPLSVATALSALSLGAEQRTESIIHRALYYDLISSPDIHG
  TYKELLDTVTAPQKNLKSASRIVFEKKLRIKSSFVAPLEKSYGTRPRVLTGNPRLDLQEI
  NNWVQAQMKGKLARSTKEIPDEISILLLGVAHFKGQWVTKFDSRKTSLEDFYLDEERTVR
  VPMMSDPKAVLRYGLDSDLSCKIAQLPLTGSMSIIFFLPLKVTQNLTLIEESLTSEFIHD
  IDRELKTVQAVLTVPKLKLSYEGEVTKSLQEMKLQSLFDSPDFSKITGKPIKLTQVEHRA
  GFEWNEDGAGTTPSPGLQPAHLTFPLDYHLNQPFIFVLRDTDTGALLFIGKILDPRGP

• Sequence length: 418

Pathways

KEGG:

Wnt signaling pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	16762588
Osteogenesis imperfecta	Osteogenesis Imperfecta, Osteogenesis imperfecta type III (disorder), Osteogenesis imperfecta type IV (disorder), Osteogenesis Imperfecta, Type VI, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4	rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs137853869, rs121434559, rs72659319, rs72659345, rs121912903, rs121912905, rs121912907, rs869254878, rs72658200, rs74315103, rs121912911, rs72658176, rs72656402, rs121912912, rs267606742, rs72659338, rs72645331, rs66721653, rs67368147, rs72653136, rs72653169, rs66523073, rs72656352, rs72645365, rs72667022, rs72645357, rs72656330, rs66527965, rs72645323, rs72656331, rs72667037, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs67828806, rs72656343, rs1906960583, rs72656314, rs67364703, rs72645347, rs72651618, rs66490707, rs72653170, rs72645320, rs137853892, rs1567856056, rs387906960, rs1555616552, rs137853865, rs137853866, rs193302872, rs193302871, rs193302873, rs137853893, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs587776916, rs398122891, rs318240762, rs372896892, rs398122834, rs749709000, rs397509383, rs397514674, rs398122518, rs398122519, rs398122520, rs387907325, rs387907333, rs387907334, rs387907354, rs387907355, rs387907356, rs387907357, rs727505392, rs786201032, rs786205217, rs786205218, rs786205219, rs786205220, rs797044559, rs794726873, rs72645353, rs869320752, rs137853943, rs797045033, rs863225043, rs869025223, rs869312908, rs878853274, rs72659347, rs72656370, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs369651701, rs886041866, rs886042260, rs886042286, rs886042603, rs886042897, rs72654794, rs72651642, rs140468248, rs137853944, rs1057517662, rs1057517663, rs74315111, rs72648337, rs1057518930, rs1057521085, rs1064794058, rs72658185, rs1555572249, rs67771061, rs1114167416, rs1114167417, rs72656386, rs1114167418, rs906553840, rs67729041, rs67865220, rs1114167412, rs67707918, rs68132885, rs72658119, rs72658143, rs72658150, rs72659310, rs67609234, rs1114167414, rs1114167415, rs72659325, rs67768540, rs1114167406, rs1114167405, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs72656338, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs1114167394, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651661, rs1114167390, rs72651645, rs1114167389, rs1114167388, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167374, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645337, rs72645334, rs72645321, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667016, rs72667012, rs1114167384, rs1114167409, rs1085307634, rs1131692167, rs765659555, rs1131692326, rs1131692320, rs1135401953, rs137853883, rs1555573313, rs72667014, rs1555573621, rs1555572125, rs1260429820, rs67879854, rs1555574143, rs1328384458, rs72648343, rs1555574516, rs1555574641, rs972668240, rs72656392, rs66612022, rs66619856, rs1554395970, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574493, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555571766, rs1555572401, rs1555572456, rs72651635, rs1555573484, rs1298621011, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72667031, rs1555571874, rs72653151, rs72653147, rs1213427451, rs72651620, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555178899, rs1555575370, rs1555572315, rs72645361, rs113994016, rs781272386, rs1554397369, rs1555572406, rs72651634, rs139593707, rs1555572316, rs72651640, rs1554396283, rs763159520, rs72658127, rs1553143741, rs1553143142, rs1554200383, rs1187611948, rs1554200371, rs1555572254, rs867628651, rs72653155, rs138570309, rs1410254723, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555575889, rs1555572759, rs1555574158, rs1555574177, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1554395470, rs1555572161, rs371243939, rs1555986267, rs1555986287, rs1555222973, rs779809838, rs1565789682, rs1557569037, rs1013320485, rs762525651, rs72656375, rs1567752926, rs1567752998, rs1567753046, rs1567753329, rs72653140, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567766329, rs72656326, rs1567753699, rs1567754277, rs72653168, rs72645370, rs1567762257, rs1567766338, rs72658193, rs72648357, rs1562906570, rs72659305, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs72648346, rs1565244847, rs1567757138, rs72656394, rs1562907287, rs1567754589, rs1598288342, rs1567855132, rs72659356, rs773269078, rs1570479611, rs762780039, rs1330779100, rs1598289920, rs72653133, rs1562906013, rs753338851, rs1570454914, rs1229143002, rs1570472113, rs137853939, rs768626850, rs1584324507, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1598299070, rs1598300304, rs1473458290, rs1598285125, rs72653171, rs72653150, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1597352358, rs1597355244, rs1597357740, rs1597357758, rs1597902342, rs1374482728, rs1597905563, rs1570452407, rs1570453963, rs1581634382, rs1597906442, rs1597908085, rs1597907877, rs1584316181, rs1584318953, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs2586486, rs1598286543, rs72654797, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs868166455, rs745891632, rs1021282486, rs780491808, rs1584320553, rs1598298699, rs72648321, rs1598288648, rs1598288967, rs72645352, rs1598298292, rs72645315, rs762979302, rs1598286050, rs1598301619, rs1584330396, rs72653156, rs1598295066, rs137853948, rs1598288002, rs1598289247, rs1652311421, rs1701306294, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs72667030, rs1907889665, rs1907921633, rs1908087291, rs1652352034, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs1906695650, rs72645338, rs1907787005, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs369314029, rs1908050941, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs1791951769, rs1792108270, rs1387151592, rs72656385	21353196, 21353196, 25046257, 25046257
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	21671747

Unknown
Disease name	Disease term	dbSNP ID	References
Corneal ulcer	Corneal Ulcer		19553628
Diabetic cardiomyopathy	Diabetic Angiopathies, Microangiopathy, Diabetic		25381014
Prostatic neoplasms	Prostatic Neoplasms		21671747
Salivary gland neoplasm	Salivary Gland Neoplasms		16762588
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland		16762588
Uveitis	Uveitis		19553628