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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
Physical map
CGI-127 2p23.3 yippee protein LBH 2p23.3 likely ortholog of mouse limb-bud and heart gene FLJ37965 CAPN13 2p22-p21 likely ortholog of mouse limb-bud and heart gene GALNT14 2p23.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) EHD3 2p21.1 EH-domain containing 3 LOC391361 2 similar to ribosomal protein L21 XDH 2p23-p22.2 xanthine dehydrogenase SRD5A2 2p23 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) LOC391362 2 similar to human alpha-catenin LOC339736 2p23.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) CGI-27 2p23.2 C21orf19-like protein LOC84661 2p23.2 dpy-30-like protein SPG4 2p22-p21 spastic paraplegia 4 (autosomal dominant; spastin) SLC30A6 2p22.3 solute carrier family 30 (zinc transporter), member 6 RH-II/GuBp1 2p22-p21 RH-II/GuB pseudogene 1 CARD12 2p22-p21 caspase recruitment domain family, member 12 MGC11061 2p23.2 hypothetical protein MGC11061 BIRC6 2p22-p21 baculoviral IAP repeat-containing 6 (apollon) FLJ20272 2p23.2-p23.1 hypothetical protein FLJ20272 LOC391363 2 similar to Latent transforming growth factor beta binding protein, isoform 1L precursor (LTBP-1) (Transforming growth factor beta-1 binding protein 1) (TGF-beta1-BP-1) LTBP1 2p22-p21 latent transforming growth factor beta binding protein 1 RASGRP3 2p25.1-p24.1 RAS guanyl releasing protein 3 (calcium and DAG-regulated) DKFZP564F0522 2p23.1 DKFZP564F0522 protein LOC391364 2 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC151325 2p23.1 similar to hypothetical protein BC013995 LOC344371 2p23.1 similar to ADP,ATP carrier protein, fibroblast isoform (ADP/ATP translocase 2) (Adenine nucleotide translocator 2) (ANT 2) MRPL50P1 2p22.3 similar to ADP,ATP carrier protein, fibroblast isoform (ADP/ATP translocase 2) (Adenine nucleotide translocator 2) (ANT 2)
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