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FLASH GENE
Symbol SERPINF1 contributors: mct - updated : 21-04-2010
HGNC name serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
HGNC id 8824
Corresponding disease
OIVI osteogenesis imperfecta type VI
Location 17p13.3      Physical location : 1.665.258 - 1.680.867
Synonym name
  • pigment epithelium-derived factor
  • proliferation-inducing protein 35
  • Synonym symbol(s) PEDF, EPC-1, PIG35
    DNA
    TYPE functioning gene
    STRUCTURE 15.61 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC390753 17 similar to putative protein LOC390754 17 similar to hypothetical class II basic helix-loop-helix protein LOST1 17p13.3 located at seventeen-p-thirteen point three 1 YWHAE 17p13.3 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide CRK 17p13.3 v-crk sarcoma virus CT10 oncogene homolog (avian) MYO1C 17p13.3-p13.2 myosin IC SKIP 17p13 myosin IC PITPN 17p13.3 phosphotidylinositol transfer protein MGC34680 17p13.3 hypothetical protein MGC34680 RILP 17p13.3 hypothetical protein MGC34680 SCARF1 17p13.3 scavenger receptor class F, member 1 PRPF8 17p13.3 PRP8 pre-mRNA processing factor 8 homolog (yeast) LOC388317 17 LOC388317 MGC14376 17p13.3 hypothetical protein MGC14376 LOC388318 17 LOC388318 FLJ33817 17p13.3 hypothetical protein FLJ33817 SERPINF2 17p13 serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 SERPINF1 17p13.3 serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 KIAA1936 17p13.3 KIAA1936 protein RPA1 17p13.3 replication protein A1, 70kDa NGRH2 LOC388319 17 LOC388319 DPH2L1 17p13.3 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae) OVCA2 17p13.3 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae) HIC1 17p13.3 hypermethylated in cancer 1 C17orf31 17p13.3 chromosome 17 open reading frame 31 SRR 17q13.3 serine racemase LOC388320 17 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) FLJ10534 17p13.3 hypothetical protein FLJ10534 KIAA0397 17p13.3 hypothetical protein FLJ10534 MNT 17p13.3 MAX binding protein MGC3329 17p13.3 hypothetical protein MGC3329
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1542 50 418 - 2010 19945427
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Digestiveliver     Homo sapiens
    Nervousbrain   highly Homo sapiens
     spinal cord     Homo sapiens
    Respiratorylung     Homo sapiens
    Skeleton      Homo sapiens
    Visualeyeretina  highly Homo sapiens
     eyeanterior segmentcornea   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow    Homo sapiens
    Connectivebone    Homo sapiens
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    Nervouscentral    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
     digestive Homo sapiens
    not specificchondrocyte Homo sapiens
    Skeletonosteoblast Homo sapiens
    Skeletonosteoclast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion CNS, plasma
    at STAGE
    physiological period fetal, pregnancy
    cell cycle     cell cycle
    Text retina, widely expressed throughout fetal tissues
    life cycle quiescence
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal region confers a neurite-promoting activity to the protein
  • a signal peptide
  • a serpin domain
  • C terminus of PEDF (AAs 384415) represents one of the four highly conserved regions of the protein
  • secondary structure neurotrophic active site is separated from the serpin reactive-site loop, not only in the primary structure, but also in the folded protein structure
    conjugated GlycoP , RiboP
    isoforms Precursor
    HOMOLOGY
    Homologene
    FAMILY
  • serpin family
  • CATEGORY enzyme , regulatory , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • effective inhibitor of angiogenesis especially in controlling the growth of blood vessels in the eye and in bone (matrix remodeling)
  • preventing against early diabetic retinopathy
  • estrogen sensitive and inhibiting the growth of ovarian tissue
  • neuroprotective and anti-angiogenic factor, may play an important role in the pathogenesis of diabetic retinopathy
  • important neuromodulatory factor that can provide effective neuroprotection and a primary endogenous angiogenic inhibitor in the eye
  • may play a role in the pathogenesis of neurodegenerative diseases and angiogenic disorders, such as Alzheimer's disease, Parkinson disease, neovascular age-related macular degeneration and tumors
  • suspected tumor suppressor gene that plays a key role in the inhibition of epithelial tissue growth
  • inducing apoptosis in endothelial cells by activating MAPK14 dependent cleavage of multiple caspases
  • may play an important role in the pathogenesis of diabetic retinopathy, in cooperation with the VEGF gene
  • possibly involved in bone homeostasis as an inhibitor of bone resorption
  • inhibits osteoclast function via regulating osteoprotegerin expression, and thereby contributes to the maintenance of bone homeostasis
  • neurotrophic factor at first, but it also possesses neuro-protective, pro-differentiation, anti-proliferative and anti-angiogenic functions (most potent endogenous inhibitor of angiogenesis)
  • inhibits osteoclast differentiation and hence bone resorption via osteoprotegerin (OPG) and TNFSF11 (receptor activator of NF-kB ligand) in a dose-dependent manner
  • multifunctional protein and one of the strongest inhibitors of angiogenesis
  • stimulates macrophage-mediated cytotoxicity in a TNFSF10-dependent manner
  • able to enhance the antitumor efficacy of macrophages by inducing a TNFSF10-mediated tumoricidal activity
  • CELLULAR PROCESS cell life, cell death/apoptosis
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text
  • most potent inhjbitor of angiogenesis, inhibiting advanced glycation and product-induced retinal vascular hypermeability
  • acting as a neurotrophic factor
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • regulated through phosphorylation by PRKACA and CSNK2A1
  • novel transcriptional target for NCOR1 repressive action
  • interaction with SERPINF1 (NCOR1 expression is required to maintain intestinal epithelial cell in a proliferative state and identify SERPINF1 as a novel transcriptional target for NCOR1 repressive action)
  • suppressed TNFSF11 activity directly and indirectly
  • TNFSF10-mediated tumoricidal activity of macrophages can be stimulated by SERPINF1
  • mediates the induction of TNFSF10 expression by PPARG
  • may regulate SOST expression by osteocytes leading to enhanced osteoblastic differentiation and increased matrix mineralization (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OIVI
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    expression reduced in non small cell lung cancer
    constitutional        
    contributing to diabetic retinopathy
    tumoral     --low  
    in breast cancer is associated with increased tumor progression
    tumoral     --low  
    during malignant progression of human glioma, hepatoma, breast cancer, ovarian cancer, lung cancer, and melanoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene for diabetic retinopathy
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularboneothers
    a promising candidate for the development of a drug for the treatment of OI patients with inborn loss of PEDF and possibly also for the treatment of other low bone-mass phenotypes
    cancer  
    potential therapeutic value against skeletal disorders and cancers
    ANIMAL & CELL MODELS