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    Bmpr1a bone morphogenetic protein receptor, type 1A [ Mus musculus (house mouse) ]

    Gene ID: 12166, updated on 9-Dec-2024

    Summary

    Official Symbol
    Bmpr1aprovided by MGI
    Official Full Name
    bone morphogenetic protein receptor, type 1Aprovided by MGI
    Primary source
    MGI:MGI:1338938
    See related
    Ensembl:ENSMUSG00000021796 AllianceGenome:MGI:1338938
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ALK3; Bmpr; SKR5; ALK-3; BMPR-1A; BMPR-IA; 1110037I22Rik
    Summary
    Enables BMP binding activity and BMP receptor activity. Involved in several processes, including circulatory system development; fibrous ring of heart morphogenesis; and positive regulation of cell population proliferation. Acts upstream of or within several processes, including limb morphogenesis; regionalization; and regulation of gene expression. Located in cell surface. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Used to study Ebstein anomaly; Wolff-Parkinson-White syndrome; chromosome 10q23 deletion syndrome; juvenile polyposis syndrome; and osteoarthritis. Human ortholog(s) of this gene implicated in hereditary mixed polyposis syndrome 2; intestinal disease; and juvenile polyposis syndrome. Orthologous to human BMPR1A (bone morphogenetic protein receptor type 1A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in bladder adult (RPKM 18.4), limb E14.5 (RPKM 14.7) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Bmpr1a in Genome Data Viewer
    Location:
    14 B; 14 20.81 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (34133018..34225335, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (34411061..34503336, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_36379 Neighboring gene synuclein, gamma Neighboring gene multimerin 2 Neighboring gene STARR-seq mESC enhancer starr_36380 Neighboring gene RIKEN cDNA 9230112D13 gene Neighboring gene STARR-seq mESC enhancer starr_36382 Neighboring gene STARR-seq mESC enhancer starr_36385 Neighboring gene LIM domain binding 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables BMP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables BMP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables BMP receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables BMP receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables BMP receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables SMAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables activin receptor activity, type I IEA
    Inferred from Electronic Annotation
    more info
     
    enables activin receptor activity, type II IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transforming growth factor beta receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transforming growth factor beta receptor activity, type I IEA
    Inferred from Electronic Annotation
    more info
     
    enables transforming growth factor beta receptor activity, type I ISO
    Inferred from Sequence Orthology
    more info
     
    enables transforming growth factor beta receptor activity, type II IEA
    Inferred from Electronic Annotation
    more info
     
    enables transforming growth factor beta receptor activity, type III IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within BMP signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in BMP signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within Mullerian duct regression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in angiogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within anterior/posterior pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in atrioventricular node cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in atrioventricular valve development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac conduction system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac right ventricle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to BMP stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within central nervous system neuron differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in chondrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within developmental growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in dorsal aorta morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within dorsal/ventral axis specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in dorsal/ventral pattern formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within dorsal/ventral pattern formation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within ectoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic digit morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within embryonic morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endocardial cushion formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endocardial cushion morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fibrous ring of heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within heart formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hindlimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lateral mesoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mesendoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mesoderm formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitral valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of smooth muscle cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural crest cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural plate mediolateral regionalization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural plate pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in outflow tract septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within paraxial mesoderm development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within paraxial mesoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within paraxial mesoderm structural organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within pattern specification process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pharyngeal arch artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within pituitary gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of bone mineralization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cardiac muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cardiac ventricle development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of mesenchymal cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of miRNA transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of transforming growth factor beta2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    NOT involved_in regulation of cardiac muscle cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cardiac muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of cellular senescence IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    NOT involved_in regulation of endothelial cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of lateral mesodermal cell fate specification IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    NOT involved_in regulation of neural crest cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in regulation of neural crest cell fate specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within somatic stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within somitogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in stem cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in tricuspid valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventricular compact myocardium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventricular septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventricular trabecula myocardium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in caveola IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with caveola ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in external side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    bone morphogenetic protein receptor type-1A
    Names
    BMP type-1A receptor
    BMP-2/BMP-4 receptor
    activin receptor-like kinase 3
    serine/threonine-protein kinase receptor R5
    NP_033888.2
    XP_006518532.1
    XP_006518533.1
    XP_036014305.1
    XP_036014306.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_009758.4NP_033888.2  bone morphogenetic protein receptor type-1A precursor

      See identical proteins and their annotated locations for NP_033888.2

      Status: VALIDATED

      Source sequence(s)
      AC160930, AC166105
      Consensus CDS
      CCDS26938.1
      UniProtKB/Swiss-Prot
      P36895
      UniProtKB/TrEMBL
      Q53Z43, Q60607
      Related
      ENSMUSP00000035900.9, ENSMUST00000049005.15
      Conserved Domains (3) summary
      cd14220
      Location:238524
      STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
      pfam01064
      Location:63132
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:205232
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      34133018..34225335 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006518470.5XP_006518533.1  bone morphogenetic protein receptor type-1A isoform X1

      See identical proteins and their annotated locations for XP_006518533.1

      UniProtKB/Swiss-Prot
      P36895
      UniProtKB/TrEMBL
      Q53Z43, Q60607
      Conserved Domains (3) summary
      cd14220
      Location:238524
      STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
      pfam01064
      Location:63132
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:205232
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    2. XM_006518469.5XP_006518532.1  bone morphogenetic protein receptor type-1A isoform X1

      See identical proteins and their annotated locations for XP_006518532.1

      UniProtKB/Swiss-Prot
      P36895
      UniProtKB/TrEMBL
      Q53Z43, Q60607
      Conserved Domains (3) summary
      cd14220
      Location:238524
      STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
      pfam01064
      Location:63132
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:205232
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    3. XM_036158413.1XP_036014306.1  bone morphogenetic protein receptor type-1A isoform X1

      UniProtKB/Swiss-Prot
      P36895
      UniProtKB/TrEMBL
      Q53Z43, Q60607
      Conserved Domains (3) summary
      cd14220
      Location:238524
      STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
      pfam01064
      Location:63132
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:205232
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    4. XM_036158412.1XP_036014305.1  bone morphogenetic protein receptor type-1A isoform X1

      UniProtKB/Swiss-Prot
      P36895
      UniProtKB/TrEMBL
      Q53Z43, Q60607
      Conserved Domains (3) summary
      cd14220
      Location:238524
      STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
      pfam01064
      Location:63132
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:205232
      TGF_beta_GS; Transforming growth factor beta type I GS-motif