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FLASH GENE
Symbol BMPR1A contributors: mct - updated : 24-06-2015
HGNC name bone morphogenetic protein receptor, type IA
HGNC id 1076
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a small cysteine-rich extracellular region
  • a juxtamembrane region of phosphorylation, glycine and serine rich (GS)
  • a cytoplasmic serine/threonine kinase domain
  • secondary structure a beta-strand framework highly similar to ACVRL1, yet there are significant differences in loops shown previously to be important for binding
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Bmpr1a
    intraspecies homolog to ACVR1
    Homologene
    FAMILY
  • protein kinase superfamily
  • TKL Ser/Thr protein kinase family
  • TGFB receptor subfamily
  • CATEGORY tumor suppressor , receptor membrane G serine/threonine
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type 1 membrane protein
    basic FUNCTION
  • required for signal transduction
  • downstream mediator of Indian Hedgehog
  • regulator of chondrocyte differentiation
  • receptor for BMP2, BMP4, and AMH (inducing regression of Muller ducts)
  • activating Smad proteins (MADH)
  • having a overlapping function with BMPR1B in early chondrogenesis
  • may interact with SF3B4 and modulate the activity of a developmentally relevant splicing factor
  • playing age-dependent roles for BMP signaling in osteoblasts for bone remodeling
  • playing a crucial role in vessel remodeling, vessel integrity and endocardial cushion formation during the development of the circulation system
  • BMPR1A and ACVR1, activate multiple signaling pathways to regulate lens formation
  • in osteoblasts negatively regulates endogenous bone mass and Wnt/beta-catenin signaling and this regulation may be mediated by the activities of SOST and DKK1
  • its signaling plays critical roles in palatal shelf growth and palatal bone formation
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text colonic epithelial cells growth control
    PATHWAY
    metabolism
    signaling signal transduction
    SMAD pathway
    a component
  • complexing with BMPR2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to members of the TGF beta superfamily
  • binding to BMP2 and BMP4
  • GIPC1, ACVR1, BMPR1A, and TGFBR1 are signaling components required for TGFBR3-mediated endothelial cell epithelial-mesenchymal transformation
  • PLXNA2 was associated with both type 1 and 2 BMP receptors, and BMP2 increased the interaction between PLXNA2 and type 1 receptors
  • FGFR3 facilitates BMPR1A to degradation through SMURF1-mediated ubiquitination pathway
  • 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 slightly up-regulated during early differentiation stage
    ASSOCIATED DISORDERS
    corresponding disease(s) JPS3 , HMPS2 , DEL10Q23
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in juvenile polyposis syndrome
    constitutional     --low  
    in lung tissue of pulmonary hypertension
    tumoral       loss of function
    in gastrointestinal tumor
    constitutional     --over  
    cell surface overabundance and constitutive phosphorylation of BMPR1A associated in FOP lymphocytes with a defect in receptor internalization
    constitutional     --over  
    ignificantly increased in both visceral and subcutaneous adipose tissue of overweight and obese subjects compared with lean subjects
    Susceptibility to obesity
    Variant & Polymorphism other
  • four SNPs (rs7095025, rs11202222, rs10788528, and rs7922846) were nominally associated with obesity
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS