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FLASH GENE
Symbol BMP1 contributors: mct/pgu - updated : 27-06-2012
HGNC name bone morphogenetic protein 1
HGNC id 1067
Corresponding disease
OIXIII osteogenesis imperfecta, type XIII
Location 8p21.3      Physical location : 22.022.652 - 22.069.837
Synonym name
  • Drosophila tolloid homolog
  • procollagen C-endopeptidase
  • procollagen C-proteinas
  • mammalian tolloid protein
  • Synonym symbol(s) PCP, TLD, FLJ44432, PCOLC
    EC.number 3.4.24.19
    DNA
    TYPE functioning gene
    STRUCTURE 46.95 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked N status confirmed
    Map pter - D8S298 - D8S1951 - BMP1 - D8S405 - D8S439 - cen
    Authors UCSC (2009)
    Physical map
    GFRA2 8p22-p21 GDNF family receptor alpha 2 DOK2 8p21.2 docking protein 2, 56kDa XPO7 8p21 exportin 7 NPM2 8p21.3 nucleophosmin/nucleoplasmin, 2 FGF17 8p21 fibroblast growth factor 17 EPB49 8p21.1 erythrocyte membrane protein band 4.9 (dematin) RAI16 8p21.2 retinoic acid induced 16 FLJ22494 8p21.3 hypothetical protein FLJ22494 HR 8p22-p21 hairless homolog (mouse) FLJ22246 8p21.3 hypothetical protein FLJ22246 LGI3 8p21.2 leucine-rich repeat LGI family, member 3 SFTPC 8p21.2 surfactant, pulmonary-associated protein C BMP1 8p21.2 bone morphogenetic protein 1 PHYHIP 8p21.2 phytanoyl-CoA hydroxylase interacting protein POLR3D 8q21 polymerase (RNA) III (DNA directed) polypeptide D, 44kDa PIWIL2 8p21.2 piwi-like 2 (Drosophila) SLC39A14 8p21.2 solute carrier family 39 (zinc transporter), member 14 PPP3CC 8p21.2 protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma) LOC389639 8 LOC389639 SCAM-1 8p21.2 vinexin beta (SH3-containing adaptor molecule-1) PDLIM2 8p21.2 PDZ and LIM domain 2 (mystique) DBC-1 8p22 p30 DBC protein BIN3 8p21.2 bridging integrator 3 FLJ14107 8p21.2 hypothetical protein FLJ14107 EGR3 8p23-p21 early growth response 3 MGC22776 8p21.2 hypothetical protein MGC22776 RHOBTB2 8p21.2 Rho-related BTB domain containing 2 TNFRSF10B 8p21 tumor necrosis factor receptor superfamily, member 10b LOC389640 8 LOC389640 TNFRSF10C 8p21 tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain
    RNA
    TRANSCRIPTS type messenger
    text with an alternatively spliced isoform with a domain identical to Drosophila dorsal-ventral pattern gene tolloid (TLD), activating TGFB-like molecules (? 1-3)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 splicing 3803 111.2 986 in the plasma, in fetus restricted to the epithelial ectoderm 2011 21453682
  • variant BMP1-3
  • an additional WB and EGF domains
  • circulates in the plasma and is significantly increased in patients with acute bone fracture
  • novel systemic regulator of bone repair
  • important role in bone repair and serve as a novel bone biomarker
  • inhibition of circulating BMP1-3 reduces renal fibrosis
  • 16 splicing 2735 82.3 730 - 2011 21453682
  • variant BMP1-1
  • involved in the biosynthetic processing of a range of ECM precursors, including major and minor fibrillar collagens, the collagen and elastin cross-linking enzyme prolysyl oxidase, cellular anchoring proteins prolaminin-5 nd procollagen VII
  • 17 splicing 3101 88.6 823 - 2011 21453682
  • variant BMP1-2
  • his rich region-different C terminus
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide, a proregion
  • a protease domain, which alone cleaves truncated procollagen VII within the short telopeptide region into fragments of similar size as the full-length enzyme does
  • an astacin-like protease domain
  • three CUB (protein interaction) domains
  • an EGF like domain between CUBII and CUBIII
  • a supplementary specific HIS domain in BMP1/HIS
  • C-terminal domains of BMP1 are important for substrate recognition and for controlling and restricting its proteolytic activity via exosite binding
  • mono polymer dimer
    isoforms Precursor cleaved at a consensus Arg-X-X-Arg to yield C terminus mature dimer
    HOMOLOGY
    interspecies ortholog to Drosophila tolloid TLD
    Homologene
    FAMILY
  • astacin family of metalloproteinases
  • CUB family
  • peptidase M12A family
  • CATEGORY enzyme , signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • acting as a procollagen C-proteinase that process the fibrillar collagen types I-III
  • zinc-dependent metalloproteinase that cleaves a variety of extracellular matrix substrates, including type I procollagen
  • may play an important role in the pathogenesis of myelofibrosis in primary myelofibrosis and are apparently induced by cytokines such as TGFbeta-1
  • might begin to cleave its substrates prior to secretion to the extracellular matrix
  • stimulates the conversion proapo A1 to its phospholipid- (PL-) binding form and it promotes formation of functional HDL and reverse cholesterol transport
  • play key roles in formation of the extracellular matrix (ECM) in vertebrates via biosynthetic processing of precursors into mature functional proteins involved in ECM assembly
  • play key roles in extracellular matrix formation, by converting precursors into mature functional proteins involved in forming the extracellular matrix
  • critically required for mature-collagen generation, downstream of osteoblast maturation, in bone
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text cartilage, bone formation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • Zn2+
  • protein
  • cleaving chordin, releasing BMP4 in its active form (effect of CHRD cleavage depends of CHRD level)
  • cleaving the gamma 2 chain (CAMG2) of laminin 5 complex facilitating basement membrane assembly in the dermal-epidermal junctions
  • interacting with BMP2 and BMP4 through prodomain (specifically binds and regulates signaling by bone morphogenetic proteins 2 and 4)
  • fibronectin binds BMP1-like proteinases and is an important determinant of the in vivo activity levels of BMP1-like proteinases
  • interacting with POSTN (periostin supported BMP1-mediated proteolytic activation of LOX on the extracellular matrix, which promoted collagen cross-linking)
  • cleaves IGFBP3 at a single conserved site, resulting in markedly reduced ability of cleaved IGFBP3 to bind IGF1 or to block IGF1-induced cell signaling
  • cell & other
    REGULATION
    activated by cleaved by subtilin-like convertases
    ASSOCIATED DISORDERS
    corresponding disease(s) OIXIII
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in myelofibrosis
    constitutional germinal mutation      
    a homozygous causative BMP1 mutation, c.34G>C, in a consanguineous family affected by increased bone mineral density and multiple recurrent fractures
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS