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FLASH GENE
Symbol LTBP1 contributors: npt/ - updated : 22-11-2006
HGNC name latent transforming growth factor beta binding protein 1
HGNC id 6714
Location 2p22.3      Physical location : 33.172.368 - 33.624.573
Synonym name TGF-beta1-BP-1
Synonym symbol(s) LTBP-1, MGC163161, TGF-beta1-BP-1
DNA
TYPE functioning gene
STRUCTURE 452.18 kb     34 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
30 - 5298 - 1396 - Higashi, Taipale (1996)
  • a N terminal non cbEGF and 16 cbEGF-like repeats each with six cysteine residues forming disulfide bonds, four 8 cysteine repeats among them three LT specific, and two proline-rich regions
  • 34 - 6148 - 1722 in fibroblasts Olofsson, Higashi, Taipale (1996)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularheart   highly
    Hearing/Equilibriumearinnercochlea highly
    Reproductivemale systemprostate  highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     digestive
    Blood/Hematopoieticplatelet
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 16 EGF-like domains
  • a binding site within three domains of the C terminus
  • isoforms Precursor fibroblast precursor 170-190kDa
    HOMOLOGY
    intraspecies homolog to LTBP family
    homolog to fibrillin
    Homologene
    FAMILY
  • fibrillin superfamily
  • latent TGF-beta binding proteins (LTBPs)
  • CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
    text
  • localizes to extracellular fibrillar structures resembling fibronectin-collagen matrix (Taipale 1996)
  • strong localization only in the outer medial layer (Hirani 2007)
  • basic FUNCTION
  • regulator of TGFB1 metabolism independent structural protein of ECM
  • may be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated
  • may play critical roles in controlling and directing the activity of TGFB1
  • mediates the extracellular matrix (ECM) targeting and accumulation of most TGF-beta in the bone (Koli 2008)
  • differentially regulating TGF-beta activation and extracellular matrix accumulation during osteogenic differentiation (Koli 2008)
  • compete with LTBP2 for binding to fibrillin-containing microfibrils throughout the aortic wall but particularly in the outer medial region where it is predominantly located (Hirani 2007)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • fibrillin-associated microfibrils
  • component of the extracellular matrix and alterations of the pericellular matrix could result in aberrant TGF-beta signaling (Taipale 1996)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding the small TGFB1 complex through its latency associated polypeptide (LAP)
  • interactions between LTBP1 and fibrillins
  • cell & other
    REGULATION
    Other released from the TGFB complex by plasmin,leading to activation of TGFB
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in association with TGFB1 in ovarian cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS