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FLASH GENE
Symbol BMPR1B contributors: mct - updated : 04-04-2018
HGNC name bone morphogenetic protein receptor, type IB
HGNC id 1077
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a small cysteine-rich extracellular ligand binding domain
  • a juxtamembrane region of phosphorylation, glycine and serine rich (GS)
  • a cytoplasmic serine/threonine kinase domain
  • a NANDOR domain at the C terminus (non-activating, non-down regulating box)
    • conjugated HemoP
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Bmpr1b
    intraspecies homolog to ACVR1
    Homologene
    FAMILY
  • TGFBR superfamily
  • ser/thr family of protein kinases
    • CATEGORY receptor membrane serine/threonine
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • required for signal transduction
  • involved in protein amino acid phosphorylation
  • playing a role in regulation of skeletogenesis and in the initial steps of cartilage condensation
  • having a overlapping function with BMPR1A in early chondrogenesis
  • playing a role in genital development and in ovarian function
  • playing a key role in the mitosis as well as intracellular BMP signaling of pulmonary arterial smooth muscle cell (pphPASMC)
  • has a novel role modulating the activity of the actin-severing protein cofilin
  • BMPR1B plays distinct roles from BMPR1A and ACVR1 in maintaining bone mass and transducing BMP signaling
    • CELLULAR PROCESS cell life, cell death/apoptosis
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text
  • initial step of chondrogenesis
  • activated BMPR1B increases apoptosis
    • PATHWAY
    metabolism
    signaling signal transduction
    a component complexing with BMPR2
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding members of TGF-beta superfamily activating Smad proteins (MADH1, MADH5, MADH8)
  • ODAM and BMPRIB interacted through the C-terminus of ODAM, which resulted in increased ODAM phosphorylation in the presence of BMP2
  • ACVR1 is required for chondrocyte proliferation and differentiation, particularly in craniofacial and axial elements, but exerts coordinated functions with both BMPR1A and BMPR1B throughout the developing endochondral skeleton
  • STK11 negatively regulates BMPR1A, BMPR1B signaling
    • cell & other
    REGULATION
    activated by BMPR2
    Other induced and increased importantly during early osteoblastic differentiation
    ASSOCIATED DISORDERS
    corresponding disease(s) BDA2 , AMDHG , BDC3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in pulmonary arterial smooth muscle cells from primary pulmonary hypertension
    constitutional germinal mutation     loss of function
    causes Pierre Robin sequence
    constitutional       loss of function
    of BMP receptor signalling may inhibit the normal steroidogenic differentiation required for maturation in older patients
    Susceptibility to acromesomelic chondrodysplasia, Hunter-Thompson type
    Variant & Polymorphism other
  • homozygous missense variant (c.1190T > G, p.Met397Arg) that segregates with acromesomelic chondrodysplasia, Hunter-Thompson type
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS