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SERPINF1 Gene

protein-coding   GIFtS: 65
GCID: GC17P001665

Serpin Peptidase Inhibitor, Clade F (Alpha-2 Antiplasmin,...

(Previous names: serine (or cysteine) proteinase inhibitor, clade F (alpha-2...)
(Previous symbol: PEDF)
  See SERPINF1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Serpin Peptidase Inhibitor, Clade F (Alpha-2 Antiplasmin, Pigment
Epithelium Derived Factor), Member 11 2
     Serpin F12 3
PEDF1 2 3 5     EPC-12 3
Serine (Or Cysteine) Proteinase Inhibitor, Clade F (Alpha-2 Antiplasmin,
Pigment Epithelium Derived Factor), Member 11 2
     OI62 5
Pigment Epithelium-Derived Factor1 2     Proliferation-Inducing Protein 351
Cell Proliferation-Inducing Gene 35 Protein2 3     OI122

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 GC17P001612


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SERPINF1 Gene:
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)

GeneCards Summary for SERPINF1 Gene:
SERPINF1 (serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1) is a protein-coding gene. Diseases associated with SERPINF1 include osteogenesis imperfecta type 6, and corneal neovascularization. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPING1.

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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010718.17  
Regulatory elements:
   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 Chromatin IP Primers for SERPINF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC17P001665:  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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PEDF_HUMAN, P36955 (See protein sequence)
Recommended Name: Pigment epithelium-derived factor precursor  
Size: 418 amino acids; 46312 Da
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

Explore proteomics data for SERPINF1 at MOPED

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
  • Glycosylation2 at Asn285
  • Modification sites at PhosphoSitePlus

  • See SERPINF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002606.3  
    ENSEMBL proteins: 
     ENSP00000254722   ENSP00000461660   ENSP00000459107   ENSP00000461214   ENSP00000460905  
     ENSP00000459869   ENSP00000460842   ENSP00000458484   ENSP00000461405  

    SERPINF1 Human Recombinant Protein Products:

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    GenScript Purified and Recombinant Proteins for SERPINF1
    Novus Biologicals SERPINF1 Proteins
    Novus Biologicals SERPINF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Sino Biological Cell Lysate for SERPINF1
    ProSpec Recombinant Protein for SERPINF1
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SERPINF1 

    SERPINF1 Antibody Products:

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    Search for Antibodies for SERPINF1 at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for SERPINF1
    LSBio Antibodies in human, mouse, rat for SERPINF1

    SERPINF1 Assay Products:

    EMD Millipore Kits and Assays for the Analysis of SERPINF1
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    R&D Systems ELISAs for SERPINF1 (Serpin F1/PEDF)         (see all)
    GenScript Custom Assay Services for SERPINF1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SERPINF1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SERPIN: Serine (or cysteine) peptidase inhibitors

    3 InterPro protein domains:
     IPR023795 Serpin_CS
     IPR000215 Serpin_fam
     IPR023796 Serpin_dom

    Graphical View of Domain Structure for InterPro Entry P36955

    ProtoNet protein and cluster: P36955

    1 Blocks protein domain: 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


    Find genes that share domains with SERPINF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IBA--
         
    Find genes that share ontologies with SERPINF1           About GenesLikeMe


    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 

    Find genes that share phenotypes with SERPINF1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SERPINF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SERPINF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERPINF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SERPINF1

    miRNA
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    miRTarBase miRNAs that target SERPINF1:
    hsa-mir-335-5p (MIRT017228)

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    SwitchGear 3'UTR luciferase reporter plasmidSERPINF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SERPINF1

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    GenScript: all cDNA clones in your preferred vector: SERPINF1 (NM_002615)
    Sino Biological Human cDNA Clone for SERPINF1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPINF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINF1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PEDF_HUMAN, P36955: Secreted. Melanosome. Note=Enriched in stage I melanosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    cytoskeleton1
    cytosol1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA12737624
    GO:0005615extracellular space IDA--
    GO:0031012colocalizes with extracellular matrix IDA--
    GO:0042470melanosome IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with SERPINF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SERPINF1 About    
    See pathways by source

    SuperPathContained pathways About
    1Apoptotic Pathways in Synovial Fibroblasts
    DHA Signaling0.74
    2PEDF Induced Signaling
    PEDF Induced Signaling0.73

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SERPINF1
        DHA Signaling
    PEDF Induced Signaling



        Pathway & Disease-focused RT2 Profiler PCR Arrays including SERPINF1: 
              Angiogenic Growth Factors in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Angiogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SERPINF1

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

    Selected Interacting proteins for SERPINF1 (P369552, 3 ENSP000002547224) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2A1P684003, ENSP000002172444I2D: score=2 STRING: ENSP00000217244
    MYOCQ999723, ENSP000000375024I2D: score=1 STRING: ENSP00000037502
    MLH1P406923I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    --P380772MINT-7711060 MINT-7711313 MINT-7711083
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IEA--
    GO:0007275multicellular organismal development TAS8473338
    GO:0007568aging IEA--
    GO:0007614short-term memory IEA--
    GO:0008283cell proliferation TAS8473338

    Find genes that share ontologies with SERPINF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SERPINF1 (PEDF)

    Selected Novoseek inferred 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)



    Find genes that share compounds with SERPINF1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254722(uc002ftl.3) ENST00000571360 ENST00000571870 ENST00000573770
    ENST00000576406 ENST00000571149 ENST00000570731 ENST00000577053 ENST00000570820
    ENST00000572048 ENST00000573763 ENST00000572517
    miRNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SERPINF1
      QuantiTect SYBR Green Assays in human, mouse, rat SERPINF1
      QuantiFast Probe-based Assays in human, mouse, rat SERPINF1

    Additional mRNA sequence: 

    AB593011.1 AB593012.1 AB593013.1 AF400442.1 AK315344.1 AY513280.1 BC000522.1 BC013984.2 
    BT007222.1 M76979.1 M90439.1 

    Selected 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 

    Selected AceView cDNA sequences (see all 885):

    CR594378 N32530 AV647439 CA433994 BU618005 CB306534 CR607676 AW338319 
    CR597983 BM723735 R87292 CR601477 CR602559 AJ708976 BQ005910 BU730756 
    AI273448 AA868652 BU077674 AJ346090 BI818930 CR625398 AJ346809 F19085 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SERPINF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATAGACCG
    SERPINF1 Expression
    About this image


    SERPINF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 28) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 5 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Mature retinal pigmented epithelium cells
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     NULL (Uncategorized)    fully expand to see all 3 entries
             Mature retinal pigmented epithelium cells
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Pre-Granulosa Cells Primordial Follicle
             Secondary follicles
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    SERPINF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPINF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532768

    UniProtKB/Swiss-Prot: PEDF_HUMAN, P36955
    Tissue specificity: Retinal pigment epithelial cells and blood plasma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SERPINF1: 
              Angiogenic Growth Factors in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Angiogenesis in human mouse rat

    Primer
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    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

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    This gene was present in the common ancestor of animals.

    Orthologs for SERPINF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpinf11 , 5 serine (or cysteine) peptidase inhibitor, clade F, member 1 less1, 5 84.5(n)1
    87.17(a)1
      11 (45.87 cM)5
    203171  NM_011340.31  NP_035470.31 
     754097695 
    chicken
    (Gallus gallus)
    Aves SERPINF11 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 less 66.75(n)
    63.29(a)
      417561  NM_001257289.1  NP_001244218.1 
    lizard
    (Anolis carolinensis)
    Reptilia SERPINF16
    serpin peptidase inhibitor, clade F (alpha-2 antip...
    58(a)
    1 ↔ 1
    GL343393.1(58395-64949)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.47972 Xenopus laevis transcribed sequence with weak similarity to protein pirA47281 (H.sapiens) A47281 pigment epithelial-differentiating factor precursor - human less 70.16(n)    BJ618065.1 
    zebrafish
    (Danio rerio)
    Actinopterygii serpinf11 serine (or cysteine) peptidase inhibitor, clade F, member 1 less 49.96(n)
    41.6(a)
      447800  NM_001004539.1  NP_001004539.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spn88Eb6
    Spn56
    (see all 3)
    Serine protease inhibitor 5
    (see all 3)
    21(a)
    20(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    3R(11032418-11034484)
    3R(11028791-11032168)


    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)
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    Paralogs for SERPINF1 gene
    SERPING12  SERPINA12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  SERPINA52  
    SERPIND12  SERPINA42  SERPINA32  SERPINA62  SERPINF22  
    4 SIMAP similar genes for SERPINF1 using alignment to 9 protein entries:     PEDF_HUMAN (see all proteins):
    SERPINA2    SERPINA6    SERPINB1    SERPINA1

    Find genes that share paralogs with SERPINF1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SERPINF1 (see all 557)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1996419421,2
    --1566545(+) AAAAA-/AATTTCAA 1 -- int10--------
    rs728224441,2
    C--1566547(+) AAAAAA/TTTCAA 1 -- int12Minor allele frequency- T:0.25NA 4
    rs1444608241,2
    --1653851(+) GAGGCC/TGAGGC 1 -- us2k10--------
    rs1466393591,2
    --1653852(+) AGGCCA/GAGGCA 1 -- us2k10--------
    rs1462300071,2
    C--1653928(+) AAAAC-/ACAAAA
            
    ACAAA
    1 -- us2k10--------
    rs1885119041,2
    --1654028(+) ACCTGA/GGAGGC 1 -- us2k10--------
    rs1932316661,2
    --1654168(+) ATAGAC/TAAAAC 1 -- us2k10--------
    rs1409193521,2
    --1654375(+) ATCTCA/GGGGAA 1 -- us2k10--------
    rs2010760301,2
    C--1654394(+) TTTTTA/TANNNN 1 -- us2k10--------
    rs1502025831,2
    --1654444(+) AAATGC/TTGGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SERPINF1 (1665253 - 1680868 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SERPINF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1946CNV Insertion18451855
    dgv3033n71CNV Loss21882294
    nsv907511CNV Loss21882294
    nsv9490CNV Loss18304495
    nsv907521CNV Gain21882294
    nsv833335CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): SERPINF1
    Locus Specific Mutation Databases (LSDB): SERPINF1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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

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    OMIM gene information: 172860   
    OMIM disorders: 613982  
    UniProtKB/Swiss-Prot: PEDF_HUMAN, P36955
  • Osteogenesis imperfecta 6 (OI6) [MIM:613982]: A form of osteogenesis imperfecta, a connective tissue
    disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma.
    Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality.
    Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing
    loss, and blue sclerae. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence
    classification. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SERPINF1 (see all 23):    
    About MalaCards
    osteogenesis imperfecta type 6    corneal neovascularization    proliferative diabetic retinopathy    diabetic macular edema
    serpinf1-related osteogenesis imperfecta    senile cataract    progressively deforming osteogenesis imperfecta    diabetic retinopathy
    eales disease    leukostasis    macular holes    diabetic cataract
    central retinal vein occlusion    retinal detachment    ocular melanoma    retinal vein occlusion
    retinopathy of prematurity    osteogenesis imperfecta    osteogenesis imperfecta type iii    choroideremia

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

    Find genes that share disorders with SERPINF1           About GenesLikeMe

    Selected Novoseek inferred 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)
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    PubMed articles for SERPINF1 gene, integrated from 10 sources (see all 466):
    (articles sorted by number of sources associating them with SERPINF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    2. 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. (J. Biol. Chem. 1995)
    3. Protein kinase C beta (PRKCB1) and pigment epithelium derived factor (PEDF) gene polymorphisms and diabetic retinopathy in a south Indian cohort. (PubMed id 20141354)1, 4, 9 Uthra S....Kumaramanickavel G. (Ophthalmic Genet. 2010)
    4. 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. (Blood 2005)
    5. 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. (Biochem. J. 2003)
    6. Phenotype and genotype characteristics of age-related macular degeneration in a Japanese population. (PubMed id 20132989)1, 4, 9 Mori K....Inoue S. (Ophthalmology 2010)
    7. 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. (Mol. Vis. 1999)
    8. 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. (J. Biol. Chem. 1993)
    9. Analysis of three pigment epithelium-derived factor gene polymorphisms in patients with exudative age-related macular degeneration. (PubMed id 19223990)1, 4, 9 Mattes D....Weger M. (Mol. Vis. 2009)
    10. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2, 9 Chi A....Hunt D.F. (J. Proteome Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 5176 HGNC: 8824 AceView: SERPINF1 Ensembl:ENSG00000132386 euGenes: HUgn5176
    ECgene: SERPINF1 H-InvDB: SERPINF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SERPINF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SERPINF1 Genetics and Cytogenetics in Oncology and Haematology

    (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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