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FLASH GENE
Symbol LTBP3 contributors: mct/npt - updated : 22-05-2018
HGNC name latent transforming growth factor beta binding protein 3
HGNC id 6716
Corresponding disease
GLSD3 geleophysic dysplasia 3
OLSS oligodontia, short stature
Location 11q13.1      Physical location : 65.306.030 - 65.325.699
Synonym name latent TGF beta binding protein 3
Synonym symbol(s) LTBP-3, LTBP2, pp6425, DKFZp586M2123, FLJ33431, FLJ39893, FLJ42533, FLJ44138, DASS, GPHYSD3, STHAG6
DNA
TYPE functioning gene
STRUCTURE 19.83 kb     27 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   transcription factor
text structure
  • one alternatively spliced exon
  • GC-rich TATA-less promoter contained several transcription initiation sites and putative binding sites for multiple sequence specific transcription factors including Sp1, AP-1, c-Ets, MZF-1, Runx1 and members of the GATA-family (Kantola 2005)
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 4721 139 1303 - 2014 25187517
    27 - 4580 134 1256 - 2014 25187517
    27 - 4576 - 1139 - 2014 25187517
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Lymphoid/Immunespleen   highly
     thymus   highly
    Reproductivefemale systemovary  highly
     male systemprostate  highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal fibrillin 4-cys motif
  • a non cb EGF-like motif
  • 13 other EGF-like motifs (12cb EGF-like)
  • four 8 cysteine residues repeats (one of F, three of LT type)
  • HOMOLOGY
    intraspecies homolog to LTBP1
    homolog to fibrillin
    Homologene
    FAMILY
  • fibrillin superfamily
  • LTBP family
  • CATEGORY structural protein , signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix (ECM) protein
    basic FUNCTION
  • may play critical roles in controlling and directing the activity of TGFB1
  • may have a structural role in the extra cellular matrix (ECM)
  • required for targeting and activation of TGFB, and in particular regulates the bioavailability of TGFB in chondrocytes (Noor 2009)
  • playing an important role in development of the axial skeleton (Noor 2009)
  • important regulatory role in TGF-beta activation and autocrine growth control in MSCs (Mesenchymal stem cells) (Koli 2008)
  • differentially regulating TGF-beta activation and extracellular matrix accumulation during osteogenic differentiation (Koli 2008)
  • in Marfan syndrome, improper localization of latent TGFB1 complexes composed of LTBP3 and TGFB1 contributes to aortic disease progression
  • is important for craniofacial morphogenesis and hard tissue mineralization, as it is essential for activation of transforming growth factor-beta (TGFB1)
  • is required for ameloblast differentiation and for the formation of decussating enamel prisms, to prevent enamel nodule formation, and for proper root morphogenesis
  • represents a novel oncotarget that has distinctive functions in the regulation of angiogenesis-dependent tumor cell intravasation, a critical process during early cancer dissemination
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming part of the large latent transforming growth factor beta precursor complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • one isoform binding to the 100kDa latent TGFB1 complex, through the latency associated polypeptide (LAP)
  • LTBP2, LTBP3 inhibit the proprotein convertase PCSK5
  • regulating the bioavailability of TGF-betas, and having an essential role in the secretion and targeting of TGF-beta1
  • MALAT1 directly interacted with SP1 and LTBP3 promoter to increase expression of LTBP3 gene
  • cell & other
    REGULATION
    induced by TGF beta 1 (promoter activity is mediated by Smad3/4 and AP-1 binding elements) (Kantola 2005)
    Other released from the TGFB complex by plasmin leading to activation of TGFB
    ASSOCIATED DISORDERS
    corresponding disease(s) OLSS , GLSD3
    Susceptibility
  • to thoracic aortic aneurysms and dissections
  • Variant & Polymorphism other
  • homozygous LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections, isolated or associated to others syndromes
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS

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