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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SERPINF1 Gene

protein-coding GIFtS: 66
GCID: GC17P001612

serpin peptidase inhibitor, clade F (alpha-2 antiplasmin,...

(Previous names: serine (or cysteine) proteinase inhibitor, clade F (alpha-2...)
(Previous symbol: PEDF)

Explore 98 diseases affiliated with
SERPINF1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Serpin Peptidase Inhibitor, Clade F (Alpha-2 Antiplasmin, Pigment Epithelium Derived Factor), Member 1¹ ²		Serpin F1² ³
PEDF¹ ² ³ ⁵		PIG35¹
EPC-1¹ ² ³		OI12²
Serine (Or Cysteine) Proteinase Inhibitor, Clade F (Alpha-2 Antiplasmin, Pigment Epithelium Derived Factor), Member 1¹ ²		OI6²
Cell Proliferation-Inducing Gene 35 Protein² ³		Pigment Epithelium-Derived Factor²

External Ids:	HGNC: 8824¹	Entrez Gene: 5176²	Ensembl: ENSG00000132386⁷	OMIM: 172860⁵	UniProtKB: P36955³

Export aliases for SERPINF1 gene to outside databases

Previous GC identifers: GC17P001954 GC17P002005 GC17P001616 GC17P001876 GC17P001872

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SERPINF1:

The protein encoded by this gene is a member of the serpin family, although it does not display the serine protease

inhibitory activity shown by many of the other serpin family members. The encoded protein is secreted and strongly

inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in

retinoblastoma cells.(provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: PEDF_HUMAN, P36955

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 exhibits no serine protease inhibitory activity

Gene Wiki entry for SERPINF1 (PEDF)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SERPINF1 gene promoter:
CREB RFX1 deltaCREB Sox9 STAT3 YY1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SERPINF1 promoter sequence

Search SABiosciences Chromatin IP Primers for SERPINF1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERPINF1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.3 Ensembl cytogenetic band: 17p13.3 HGNC cytogenetic band: 17p13.3

SERPINF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINF1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P001612: view genomic region (about GC identifiers)

Start:	1,665,253 bp from pter	End:	1,680,868 bp from pter
Size:	15,616 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PEDF_HUMAN, P36955 (See protein sequence)

Recommended Name: Pigment epithelium-derived factor precursor

Size: 418 amino acids; 46312 Da

Subcellular location: Secreted. Melanosome. Note=Enriched in stage I melanosomes

Developmental stage: Expressed in quiescent cells

Sequence caution: Sequence=AAA84914.1; Type=Frameshift; Positions=356; Sequence=AAA93524.1; Type=Erroneous initiation;

Note=Translation N-terminally shortened;

1 PDB 3D structure from and Proteopedia for SERPINF1:

1IMV (3D)

Secondary accessions: F1T092 Q13236 Q2TU83 Q96CT1 Q96R01 Q9BWA4

Explore the universe of human proteins at neXtProt for SERPINF1: NX_P36955

Post-translational modifications:

The N-terminus is blocked. Extracellular phosphorylation enhances antiangiogenic activity¹

N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P36955

SERPINF1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002606.3

ENSEMBL proteins:

ENSP00000254722 ENSP00000461660 ENSP00000459107 ENSP00000461214 ENSP00000460562

ENSP00000460905 ENSP00000459869 ENSP00000460842 ENSP00000458484 ENSP00000461405

Human Recombinant Protein Products for SERPINF1:

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	Novus Biologicals SERPINF1 Proteins Novus Biologicals SERPINF1 Lysates
	Sino Biological Recombinant Protein for SERPINF1
	ProSpec Recombinant Protein for SERPINF1
	Uscn Proteins for SERPINF1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IDA	12737624
GO:0005615	extracellular space	IDA	--
GO:0031012	colocalizes with extracellular matrix	IDA	--
GO:0042470	melanosome	IEA	--

SERPINF1 for ontologies About GeneDecksing

SERPINF1 Antibody Products:

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	GenScript Custom Superior Antibodies Services for SERPINF1
	Novus Biologicals SERPINF1 Antibodies
	Abcam antibodies for SERPINF1
	Uscn Antibodies for SERPINF1
	ThermoFisher Antibodies for SERPINF1

Assay Products for SERPINF1:

	EMD Millipore Kits and Assays for the Analysis of SERPINF1
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems Multiplex/Array Assay Kits & Reagents for SERPINF1 (Serpin F1/PEDF)
	GenScript Custom Assay Services for SERPINF1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SERPINF1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SERPINF1 for domains About GeneDecksing

3 InterPro domains/families:

IPR023795 Protease_inhib_I4_serpin_CS

IPR023796 Serpin_dom

IPR000215 Serpin_fam

Graphical View of Domain Structure for InterPro Entry P36955

ProtoNet protein and cluster: P36955

1 Blocks protein family: IPB000215 Serpin

UniProtKB/Swiss-Prot: PEDF_HUMAN, P36955

Domain: The N-terminal (AA 44-121) exhibits neurite outgrowth-inducing activity. The C-terminal exposed loop (AA

382-418) is essential for serpin activity

Similarity: Belongs to the serpin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PEDF_HUMAN, P36955

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 exhibits no serine protease inhibitory activity

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	--

SERPINF1 for ontologies About GeneDecksing

Phenotypes:
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Serpinf1):

cardiovascular system	digestive/alimentary	endocrine/exocrine gland	nervous system	pigmentation
reproductive system	vision/eye

SERPINF1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SERPINF1

miRNA Products:		OriGene 3'-UTR Clone: SERPINF1 Browse MicroRNA Expression Plasmids
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against SERPINF1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for SERPINF1
			Sirion Biotech Customized adenovirus for overexpression of SERPINF1 Sirion Biotech Customized adenovirus for potent knockdown of SERPINF1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINF1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINF1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SERPINF1 (NM_002615)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SERPINF1
		Search LifeMap BioReagents cell lines for SERPINF1
		Sirion Biotech Customized stable knockdown cell line services for SERPINF1 Sirion Biotech Customized inducible knockdown cell line services for SERPINF1 Sirion Biotech Customized stable overexpressing cell line services for SERPINF1 Sirion Biotech Customized inducible overexpressing cell line services for SERPINF1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINF1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

PEDF Induced Signaling

PEDF Induced Signaling

1.00

Apoptotic Pathways in Synovial Fibroblasts

DHA Signaling

0.70

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SERPINF1

	DHA Signaling
	PEDF Induced Signaling

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SERPINF1

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

5/9 Interacting proteins for SERPINF1 (P36955^{2, 3} ENSP00000254722⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CSNK2A1	P68400³, ENSP00000217244⁴	I2D: score=2 STRING: ENSP00000217244
MYOC	Q99972³, ENSP00000037502⁴	I2D: score=1 STRING: ENSP00000037502
MLH1	P40692³	I2D: score=1
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
--	P00830²	MINT-7711060 MINT-7711313 MINT-7711083

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001822	kidney development	--	--
GO:0007275	multicellular organismal development	TAS	8473338
GO:0007568	aging	--	--
GO:0007614	short-term memory	--	--
GO:0008283	cell proliferation	TAS	8473338

SERPINF1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SERPINF1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SERPINF1
10/28 Novoseek chemical compound relationships for SERPINF1 gene (see all 28) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
vegf	80.1	354	16019000 (9), 17167405 (9), 19674731 (8), 15148217 (7) (see all 99)
matrigel	46.7	4	17479108 (1), 18487955 (1)
verteporfin	44.8	1	16987905 (1)
serine	35.9	29	8226833 (2), 8814138 (2), 7592790 (2), 8434014 (2) (see all 22)
olmesartan	31.2	2	16948472 (1), 16624340 (1)
triamcinolone acetonide	29.5	14	17167405 (6), 16987905 (3), 18836566 (3)
diphenyleneiodonium	20.8	2	15276019 (1), 15846509 (1)
fluorescein	17	3	18805795 (1)
n acetylcysteine	14.6	7	16948472 (2), 15276019 (1), 12711260 (1), 17593873 (1) (see all 5)
guanylate	11.6	3	10711674 (1), 8586428 (1), 8733141 (1)

Search CenterWatch for drugs/clinical trials and news about SERPINF1 / PEDF

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SERPINF1 gene:

NM_002615.5

Unigene Cluster for SERPINF1:

Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1

Hs.532768 [show with all ESTs]

Unigene Representative Sequence: BM918904

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000254722(uc002ftl.3) ENST00000571360 ENST00000571870 ENST00000573770

ENST00000576406 ENST00000572916 ENST00000571149 ENST00000570731 ENST00000577053

ENST00000570820 ENST00000572048 ENST00000573763 ENST00000572517

miRNA Products:		OriGene 3'-UTR Clone: SERPINF1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPINF1
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SERPINF1
		SwitchGear 3'UTR luciferase reporter plasmid: SERPINF1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERPINF1 (see all 6) OriGene shRNA RFP: SERPINF1 OriGene siRNA: SERPINF1
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		Sirion Biotech Custom design and validation of potent shRNA sequences against SERPINF1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINF1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINF1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SERPINF1 (NM_002615)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERPINF1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPINF1

Additional cDNA sequence:

AB593011.1 AB593012.1 AB593013.1 AF400442.1 AK315344.1 AY513280.1 BC000522.1 BC013984.2

BT007222.1 M76979.1 M90439.1

24/26 DOTS entries (see all 26):

DT.92471429 DT.95289660 DT.95351828 DT.100045994 DT.95185221 DT.101961553 DT.92471427 DT.97868091

DT.100893428 DT.101977899 DT.95185277 DT.100893413 DT.100893419 DT.100893440 DT.120969344 DT.120969346

DT.120969354 DT.120969379 DT.75152510 DT.91693846 DT.92471484 DT.95185278 DT.97790436 DT.92471420

24/885 AceView cDNA sequences (see all 885):

BX445452 BM688707 BM973660 AI148366 BM694797 AV647444 BQ549772 BU077449

CR601478 CR608766 AI220593 AA365774 AA320484 BU077674 AA363941 AW338319

CK903204 BM989050 BM705067 CR626499 CR591530 AI754346 CA414134 BM708279

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINF1 (see all 9) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	·	6c	·	6d	^	7	^	8a	·	8b	·	8c	·	8d	^	9	^	10a	·	10b	·	10c	^	11
SP1:							-		-						-				-								-		-		-
SP2:							-		-		-		-		-				-								-		-		-
SP3:							-		-						-												-		-		-
SP4:							-		-										-
SP5:															-				-

ECgene alternative splicing isoforms for SERPINF1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SERPINF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACATAGACCG

About this image

SERPINF1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retinal Pigmented Epithelium

Mature Retinal Pigmented Epithelium Cells

Selective marker (cell-identifying gene)

Retinal Pigmented Epithelium

Eye

Retinal Pigmented Epithelium

Retinal Pigmented Epithelium Progenitor Cells

Retinal Pigmented Epithelium

Heart

Atrioventricular Node

Atrioventricular Node Cells

Myocardium

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Ovary

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/18 LifeMap Cells (see all 18)

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See SERPINF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SERPINF1

SOURCE GeneReport for Unigene cluster: Hs.532768

UniProtKB/Swiss-Prot: PEDF_HUMAN, P36955

Tissue specificity: Retinal pigment epithelial cells and blood plasma

SABiosciences Expression via Pathway-Focused PCR Arrays including SERPINF1:

Angiogenic Growth Factors in human mouse rat

Cancer PathwayFinder in human mouse rat

Angiogenesis in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SERPINF1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPINF1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINF1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SERPINF1 gene from 8/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SERPINF1¹	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, more	66.75(n) 63.29(a)		417561 XM_003642400.1 XP_003642448.1
lizard (Anolis carolinensis)	Reptilia	SERPINF1⁶	--	58(a)	1 ↔ 1	GL343393.1(60646-64941)
African clawed frog (Xenopus laevis)	Amphibia	Xl.4797²	Xenopus laevis transcribed sequence with weak similarity more	70.16(n)		BJ618065.1
zebrafish (Danio rerio)	Actinopterygii	serpinf1¹	serine (or cysteine) peptidase inhibitor, clade F, more	49.96(n) 41.6(a)		447800 NM_001004539.1 NP_001004539.1
fruit fly (Drosophila melanogaster)	Insecta	Spn100A⁶ Spn2⁶ (see all 26)	Serine protease inhibitor 2 (see all 26)	9(a) 26(a) (see all 26)	possible ortholog possible ortholog (see all 26)	3R(26516366-26518490) 2L(8240414-8241800)
worm (Caenorhabditis elegans)	Secernentea	srp-6⁶ srp-1⁶ (see all 6)	SeRPin family member (srp-1) (see all 6)	21(a) 19(a) (see all 6)	possible ortholog possible ortholog (see all 6)	V(7384214-7386288) V(753335-755049)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G25240⁶ AT1G64010⁶ (see all 10)	serine protease inhibitor-like protein (see all 10)	21(a) 21(a) (see all 10)	many ↔ many many ↔ many (see all 10)	2(10751768-10753134) 1(23750884-23751441)
rice (Oryza sativa)	Liliopsida	-- -- (see all 16)	serpin domain containing protein, putative, expres... serpin domain containing protein, putative, expres... (see all 16)	20(a) 19(a) (see all 16)	many ↔ many many ↔ many (see all 16)	3(23053071-23066803) 1(32248927-32250581)

ENSEMBL Gene Tree for SERPINF1 (if available)
TreeFam Gene Tree for SERPINF1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SERPINF1 gene

SERPING1² SERPINA1² SERPINH1² SERPINA10² SERPINA11² SERPINA7² SERPINA12² SERPINA9²

SERPINA5² SERPIND1² SERPINA4² SERPINA3² SERPINA6² SERPINF2²

6 SIMAP similar genes for SERPINF1 using alignment to 10 protein entries: PEDF_HUMAN (see all proteins):

SERPINH1 SERPINB11 SERPINB1 SERPINA6 SERPINA3 SERPINA1

SERPINF1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs201076030^1,2	C	--	1561210(+)	`TTTTTA/TANNNN`	1	--	us2k¹		0	--	--	--	--
rs73292948^1,2	C	--	1561892(+)	`GCAAAC/GTGATA`	1	--	us2k¹		2		WA	120
rs12940136^1,2	C,F,H	--	1562009(+)	`TGAGGC/TGGAAA`	1	--	us2k¹ tfbs³		11		NS NA WA CSA	1191
rs28481305^1,2		--	1563340(+)	`AGCTGA/GGTCCT`	1	--	int¹		0	--	--	--	--
rs72822439^1,2	C,F	--	1563495(+)	`NNNNCC/TGTCCG`	1	--	int¹		5		NA WA EA	362
rs72822441^1,2	C,F	--	1563571(+)	`ACCCCG/ACCCCT`	1	--	int¹		1		NA	120
rs73976283^1,2	C	--	1563646(+)	`TGGAGG/AGCAGG`	1	--	int¹		1		WA	2
rs201885188^1,2	C	--	1563961(+)	`GGCTTG/TAGTTG`	1	--	int¹		0	--	--	--	--
rs16951640^1,2	C,F	--	1564022(+)	`TGGGCA/GATTGT`	1	--	int¹		5		NA	262
rs75485157^1,2	F	--	1564222(+)	`CGTGTG/ATGCTG`	1	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for SERPINF1 (1665253 - 1680868 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SERPINF1
1 CNV: 32148
Human Gene Mutation Database (HGMD): SERPINF1

Locus Specific Mutation Databases (LSDB): SERPINF1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SERPINF1

DNA2.0 Custom Variant and Variant Library Synthesis for SERPINF1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SERPINF1 for disorders About GeneDecksing

OMIM gene information: 172860 OMIM disorders: --

UniProtKB/Swiss-Prot: PEDF_HUMAN, P36955

Defects in SERPINF1 are the cause of osteogenesis imperfecta type 12 (OI12) [MIM:613982]. OI12 is a connective

tissue disorder characterized by bone fragility, low bone mass, and recurrent fractures. OI12 is characterized by

features compatible with osteogenesis imperfecta type III in the Sillence classification. Patients have normal grayish

sclerae and fractures of long bones and severe vertebral compression fractures, with resulting deformities observed as

early as the first year of life

20/98 diseases for SERPINF1 (see all 98): About MalaCards

osteogenesis imperfecta type iii leber congenital amaurosis miller-dieker syndrome retinoblastoma

osteogenesis imperfecta resting heart rate macular holes proliferative diabetic retinopathy

senile cataract retinal vein occlusion retinal detachment clear cell renal cell carcinoma

primitive neuroectodermal tumor proliferative vitreoretinopathy chorioretinal atrophy macular degeneration

1 disease from the University of Copenhagen DISEASES database for SERPINF1:

Osteogenesis imperfecta

10/61 Novoseek disease relationships for SERPINF1 gene (see all 61) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
proliferative diabetic retinopathy	81	24	17213275 (2), 16604386 (1), 20072643 (1), 12920663 (1) (see all 19)
choroidal neovascularization	76.1	23	15059706 (2), 19850839 (2), 18728623 (1), 19674731 (1) (see all 17)
diabetic retinopathy	72.8	54	18523656 (5), 17213275 (4), 16440585 (4), 15797260 (3) (see all 28)
neovascularization	71.5	30	15059706 (2), 19567100 (2), 15150108 (1), 20072643 (1) (see all 23)
retinal neovascularization	70.4	15	11867604 (3), 18307952 (2), 11723044 (2), 10398599 (1) (see all 7)
retinopathy	60.2	20	12957143 (3), 12920663 (2), 15059706 (1), 16406543 (1) (see all 12)
aqueous humor	58.3	27	16973658 (5), 16764035 (4), 17162928 (3), 12920663 (2) (see all 10)
diabetic macular edema	58	2	16406543 (1), 15096582 (1)
eye diseases	57.7	13	11723044 (2), 17627605 (1), 15823717 (1), 12711260 (1) (see all 10)
drusen	55.8	1	16019000 (1)

Genetic Association Database (GAD): SERPINF1
Human Genome Epidemiology (HuGE) Navigator: SERPINF1 (14 documents)

Export disorders for SERPINF1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SERPINF1 gene, integrated from 9 sources (see all 440):
(articles sorted by number of sources associating them with SERPINF1)

Utopia: connect your pdf to the dynamic
world of online information

Pigment epithelium-derived factor: neurotrophic activity and identification as a member of the serine protease inhibitor gene family. (PubMed id 8434014)^{1, 2, 3, 9} Steele F.R.... Tombran-Tink J. (1993)
Pigment epithelium-derived factor behaves like a noninhibitory serpin. Neurotrophic activity does not require the serpin reactive loop. (PubMed id 7592790)^{1, 2, 9} Becerra S.P.... Notario V. (1995)
Extracellular phosphorylation converts pigment epithelium-derived factor from a neurotrophic to an antiangiogenic factor. (PubMed id 15374885)^{1, 2, 9} Maik-Rachline G.... Seger R. (2005)
Pigment-epithelium-derived factor (PEDF) occurs at a physiologically relevant concentration in human blood: purification and characterization. (PubMed id 12737624)^{1, 2, 9} Petersen S.V.... Enghild J.J. (2003)
Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis. (PubMed id 10398730)^{1, 2, 9} Koenekoop R.... Tombran-Tink J. (1999)
Overexpression of fetal human pigment epithelium-derived factor in Escherichia coli. A functionally active neurotrophic factor. (PubMed id 8226833)^{1, 2, 9} Becerra S.P.... Chader G.J. (1993)
Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)^{1, 2, 9} Chi A....Hunt D.F. (2006)
Pigment epithelium-derived factor Met72Thr polymorphism in patients with diabetic microangiopathy. (PubMed id 12837042)^{1, 4, 9} Yamagishi S....Kimura H. (2002)
Exome sequencing identifies truncating mutations in h uman SERPINF1 in autosomal-recessive osteogenesis imperfecta. (PubMed id 21353196)^{1, 2} Becker J....Netzer C. (2011)
Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)^{1, 2} Oshikawa M.... Kato S. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5176	HGNC: 8824	AceView: SERPINF1	Ensembl:ENSG00000132386	euGenes: HUgn5176
ECgene: SERPINF1	H-InvDB: SERPINF1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SERPINF1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for SERPINF1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for SERPINF1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SERPINF1 gene:
Search GeneIP for patents involving SERPINF1

Licensable Technologies for SERPINF1 gene:

Weizmann Institute:

Novel Mutants of Pigment Epithelium Derived Factor Significantly Elevate its Antiangiogenic Activity

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Corneal Neovascularization
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