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FLASH GENE
Symbol FBLN5 contributors: mct/shn - updated : 31-03-2015
HGNC name fibulin 5
HGNC id 3602
Corresponding disease
ADCL2 cutis laxa, autosomal dominant 2
ARMD3 macular degeneration, age-related 3
CLAR1A cutis laxa, type 1A
PNES peripheral neuropathy, age-related macular degeneration and hyperelastic skin.
Location 14q32.12      Physical location : 92.335.755 - 92.414.046
Synonym name
  • developmental arterie and neural crest epidermal growth factor-like
  • urine p50 protein
  • embryonic vascular EGF-like repeat-containing protein
  • developmental arteries and neural crest epidermal growth factor-like
  • urine p50 protein
  • Synonym symbol(s) EVEC, DANCE, UP50, FBL5, ARMD3, UNQ184/PRO210, FIBL-5, FLJ90059
    DNA
    TYPE functioning gene
    STRUCTURE 78.29 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D14S280 - D14S617 - FBLN5 - D14S1015 - D14S1016 - qter
    Physical map
    RPL21P11 14q32.11 ribosomal protein L21 pseudogene 11 CALM1 14q24-q31 calmodulin 1 (phosphorylase kinase, delta) TTC7L1 14q32.12 tetratricopeptide repeat domain 7 like 1 RPS18P2 14 ribosomal protein S18 pseudogene 2 LOC283588 14q32.12 hypothetical protein LOC283588 RPS6KA5 14q31-q32.1 ribosomal protein S6 kinase, 90kDa, polypeptide 5 C14orf159 14q32.12 chromosome 14 open reading frame 159 GPR68 14q31 G protein-coupled receptor 68 KIAA1509 14q32.12 KIAA1509 LOC388005 14 similar to RIKEN cDNA 0610010D24 KIAA2010 14q32.12 KIAA2010 C14orf161 14q32.12 chromosome 14 open reading frame 161 MTAC2D1 14q32.12 membrane targeting (tandem) C2 domain containing 1 FBLN5 14q32.1 fibulin 5 TRIP11 14q31-q32 thyroid hormone receptor interactor 11 PTMAP7 14 prothymosin, alpha pseudogene 7 MJD 14q24.4-q32.1 Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) NDUFB1 14q31.3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa CPSF2 14q31.3 cleavage and polyadenylation specific factor 2, 100kDa SLC24A4 14q32.12-q32.13 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 RIN3 14q32.13 Ras and Rab interactor 3 LGMN 14q32.1 legumain GOLGA5 14q24.3-q31.3 golgi autoantigen, golgin subfamily a, 5 CHGA 14q32 chromogranin A (parathyroid secretory protein 1) ITPK1 14q31 inositol 1,3,4-triphosphate 5/6 kinase CYB5P3 14q31-q32.1 cytochrome b-5 pseudogene 3 MOAP1 14q32 modulator of apoptosis 1 C14orf109 14q32.13 chromosome 14 open reading frame 109 C14orf142 14q32.13 chromosome 14 open reading frame 142 C14orf130 14q32.13 chromosome 14 open reading frame 130 RPL18AP1 14 ribosomal protein L18a pseudogene 1 RPL36AP4 14 ribosomal protein L36a pseudogene 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2637 52 448 - 1999 10428823
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   highly Homo sapiens
    Digestiveintestinelarge intestinecolon highly
     intestinesmall intestine  moderately
    Endocrinepancreas   moderately
    Lymphoid/Immunespleen   lowly
    Nervousbrain   lowly
    Reproductivefemale systemovary  highly
     female systemplacenta  lowly
     male systemprostate  lowly
     male systemtestis  moderately
    Respiratorylung   lowly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal lowly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text placenta, great vessels and cardiac valves, in developing vasculature
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a modified N-terminal alcium-binding epidermal growth factor domain (cbEGF)
  • five cbEGF domains
  • six calcium-binding epidermal growth factor domains
  • an Arg-Gly-Asp (RGD) motif
  • repeated epidermal-growth-factor-like domains
  • a fibulin-type C-terminal module
  • two potential N-glycosylation site
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Fbln5, Mus musculus
    ortholog to Fbln5, Rattus norvegicus
    ortholog to fbln5, Danio rerio
    ortholog to FBLN5, Pan troglodytes
    Homologene
    FAMILY
  • fibulin family
  • CATEGORY adhesion , secretory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton,microfilament
    text
  • extracellular matrix
  • observed throughout the vessel wall
  • FBLN5 specifically colocalized with LTBP4 on microfibrils
  • basic FUNCTION
  • vascular ligand for integrin receptors playing in vascular development and remodeling, in regulating angiogenesis and endothelial cell function, antagonizing VEGF signaling in endothelial cells, as well as enhanced their expression of the antiangiogenic factor, thrombospondin-1
  • promoting adhesion of endothelial cells through interaction of integrins and the RGD motif
  • essential for elastic fibre development
  • calcium-dependent elastin-binding protein that scaffolding cells to elastic fibers, there by preventing elastinopathy in the skin, lung, and vasculature
  • integrin-binding extracellular matrix protein that mediates endothelial cell adhesion and scaffolds cells to elastic fibers
  • function as angiogenesis inhibitors and suppress tumor growth
  • acting as a bridging peptide between elastin fibers and cell surface integrins in blood vessel wall
  • extracellular matrix glycoprotein that participates in elastogenesis
  • may promote extracellular deposit formation in macular degeneration
  • potently induces elastic fiber assembly and maturation by organizing tropoelastin and cross-linking enzymes onto microfibrils
  • enhances elastic fiber formation in part by improving the self-association properties of tropoelastin (ELN)
  • distinct roles of EFEMP2 and FBLN5 in elastic fiber assembly and how they act in concert to chaperone cross-linked elastin onto microfibrils
  • FBLN2 and FBLN5 cooperatively function to form the internal elastic lamina during postnatal development by directing the assembly of elastic fibers, and are responsible for maintenance of the adult vessel wall after injury
  • dual role of FBLN5 in human placental development
  • integrin-binding matricellular protein that is essential for elastic fiber assembly, regulated the activity of MMP9 to maintain integrity of the vaginal wall and prevented development of Pelvic organ prolapse (POP)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , angiogenesis
    text elastogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
  • Ca2+
  • protein
  • apolipoprotein(a), LPA
  • lysyl oxidase-like 1, LOXL1
  • extracellular superoxide dismutase, ecSOD
  • binding of ELN fragments to FBLN5 was directly proportional to their propensity to coacervate
  • may interfere with choroidal neovascularization by downregulating VEGFA, CXCR4, and TGFB1 expression
  • in response to tension stress, LTBP2 may negatively control the function of FBLN5, thereby modulating the mechanism of oxytalan fiber coalescence
  • LTBP4 potentiates formation of elastic fibers through interacting with FBLN5, a tropoelastin-binding protein necessary for elastogenesis
  • LTBP4 is necessary for linear deposition of FBLN5 to microfibrils
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CLAR1A , ARMD3 , PNES , ADCL2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in disease affecting adult arterial vasculature
    tumoral     --low  
    in cancers of the kidney, breast, ovary, and colon, metastatic
    constitutional     --low  
    in patients with primary spontaneous pneumothorax (PSP who are younger than 25 years
    Susceptibility to age-related macular degeneration and cause autosomal-recessive cutis laxa
    Variant & Polymorphism other missense variations increasing the risk of age-related macular degeneration
    Candidate gene
    Marker
    Therapy target
  • could be a novel therapeutic target for elastic fiber regeneration
  • FBLN5 and ELN are potential targets for the regeneration of elastic fibers
  • ANIMAL & CELL MODELS
  • fibulin 5 -/- mice develop marked elastinopathy owing to the disorganization of elastic fibres, with resulting loose skin, vascular abnormalities and emphysematous lung
  • fibulin 5-/- mice survive to adulthood, but have a tortuous aorta with loss of compliance, severe emphysema, and loose skin
  • Fbln5-/- mice represent a suitable model for further studies to determine mechanistic relationships between arterial compliance and left ventricular (LV) diastolic function