Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol BMPR1A contributors: mct - updated : 24-06-2015
HGNC name bone morphogenetic protein receptor, type IA
HGNC id 1076
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