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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
Corresponding disease
DEL10Q23 chromosome 10q22q23 deletions and duplications
HMPS2 hereditary mixed polyposis syndrome 2
JPS3 juvenile polyposis syndrome
Location 10q23.2      Physical location : 88.516.395 - 88.684.944
Synonym name
  • activin A receptor, type 2-like kinase 3
  • serine/threonine-protein kinase receptor R5
  • activin receptor-like kinase 3
  • CD292 antigen
  • Synonym symbol(s) ALK3, ACVRLK3, BMRA, CD292
    EC.number 2.7.11.30
    DNA
    TYPE functioning gene
    STRUCTURE 168.55 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - D10S1786 - D10S551 - D10S541 - BMPR1A - D10S564 - D10S571 - D10S574 - qter
    Authors Ide (98)
    Physical map
    GRID1 10q22 glutamate receptor, ionotropic, delta 1 KIAA0261 10q23.31 KIAA0261 LOC340749 10q23.31 similar to Rpl7a protein OPN4 10q22 opsin 4 (melanopsin) LDB3 10q22.3-q23.2 LIM domain binding 3 BMPR1A 10q22.3-q23.2 bone morphogenetic protein receptor, type IA EMILIN3 10q23.31 elastin microfibril interfacer 3 SNCG 10q26.2-q23.3 synuclein, gamma (breast cancer-specific protein 1) APM2 10q23.31 adipose specific 2 KIAA1975 10q23.31 KIAA1975 protein similar to MRIP2 GLUD1 10q23.3 glutamate dehydrogenase 1 MGC5560 10q23.31 hypothetical protein MGC5560 LOC389991 10 similar to synaptotagmin XV isoform a; chr10 synaptotagmin FAM22A 10q23.31 family with sequence similarity 22, member A LOC387697 10 LOC387697 LOC387698 10 similar to KIAA2020 protein LOC118945 10q23.31 similar to Cathepsin L preproprotein MINPP1 10q23.3 multiple inositol polyphosphate histidine phosphatase, 1 PAPSS2 10q23-q23.2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 FLJ14600 10q23.31 hypothetical protein FLJ14600 MGC35136 10q23.31 hypothetical protein MGC35136 PTEN 10q23.3 phosphatase and tensin homolog (mutated in multiple advanced cancers 1) FLJ11218 10q23.31 hypothetical protein FLJ11218 LOC142910 10q23.31 similar to Triacylglycerol lipase, gastric precursor (Gastric lipase) (GL) LOC389992 10 similar to ribosomal protein L7 LIPF 10q23.33 lipase, gastric LOC118934 10q23.31 similar to hypothetical protein 9930115F20 LOC389993 10 similar to lipase A precursor; Lipase A, lysosomal acid, cholesterol esterase
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3631 - 532 - 2002 12368913
    EXPRESSION
    Rna function mRNA expression was upregulated in the condensed mesenchyme progenitors of palatal bone
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveintestine    
     liver   lowly
    digestivemouthgingiva  highly
    Endocrinethyroid   highly
    Lymphoid/Immunelymph node   highly
    Respiratoryrespiratory tracttrachea  highly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text
  • placenta, trabecular meshwork
  • preferentially expressed in the primary palate and anterior secondary palate during palatal outgrowth
  • 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