Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol LTBP4 contributors: mct/npt - updated : 31-03-2015
HGNC name latent transforming growth factor beta binding protein 4
HGNC id 6717
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • possess heparin binding activity, especially in its N-terminal region
  • 36 EGF-like motifs (18 calcium-binding cbEGF)
  • three 8 cysteine residues motif, one of F type(two of LT type)
  • seven ANK repeats
  • three LNR (lin/notch) repeats
  • C-terminal domain associated with the matrix structures, domain supported fibroblast adhesion, a property reduced by soluble heparin (Kantola 2008)
    • mono polymer homomer
    HOMOLOGY
    Homologene
    FAMILY
  • fibrillin superfamily
  • NOTCH family
  • LTBP family
    • CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton,microfilament
    intracellular,nucleus
    text
  • microfibrillar
  • FBLN5 specifically colocalized with LTBP4 on microfibrils
    • basic FUNCTION
  • functioning as a receptor for membrane- bound ligands delta and serrate to regulate cell-fate determination
  • playing an essential role for proper differentiation of ectoderm
  • having functions as an adhesion molecule (Kantola 2008)
  • may contribute to Abdominal Aortic Aneurysm progression (Thompson 2009)
  • LTBP4 functions are modified by tissue-specific expression of the two N-terminally distinct variants, which in addition exhibit significant differences in cellular processing and targeting
  • unique function for LTBP4 during elastic fibrogenesis
  • orchestrates elastin deposition onto microfibrils by binding with FBLN5, which is bound to tropoelastin
  • elastogenic activity of LTBP4 is not dependent on associated TGFB1, but is attributed to LTBP4 itself
  • promoted elastic fiber assembly by facilitating tropoelastin deposition on microfibrils
  • increases elastic fibers by promoting elastin deposition on microfibrils could be an approach toward regenerative treatment for diseases caused by elastic fiber degradation
  • role in regulating FBLN5 dependent elastic fiber assembly
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • extracellular matrix constituent likely bound to TGFB1 complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • regulating the bioavailability of TGF-betas
  • binds directly to fibronectin (FN), which was indispensable for the matrix assembly of LTBP4 (Kantola 2008)
  • LTBP4 is necessary for linear deposition of FBLN5 to microfibrils
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CPVS , ARCL1C
    Susceptibility
  • to Abdominal Aortic Aneurysm
  • to variation of age of ambulatory loss in Duchenne muscular dystrophy
    • Variant & Polymorphism SNP
  • significant association with the LTBP4 21011A>T genotype in Abdominal Aortic Aneurysm (Thompson 2009)
  • in Duchenne muscular dystrophy, individuals homozygous for the IAAM LTBP4 haplotype remained ambulatory significantly longer than those heterozygous or homozygous for the VTTT haplotype
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    dermatologyskin 
    potential therapeutic target for elastic fiber regeneration
    ANIMAL & CELL MODELS
  • mice deficient in Ltbp4 display a defect in lung septation and elastogenesis