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    BMPR1A bone morphogenetic protein receptor, type IA [ Homo sapiens (human) ]

    Gene ID: 657, updated on 24-Aug-2015
    Official Symbol
    BMPR1Aprovided by HGNC
    Official Full Name
    bone morphogenetic protein receptor, type IAprovided by HGNC
    Primary source
    HGNC:HGNC:1076
    See related
    HPRD:03192; MIM:601299
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALK3; SKR5; CD292; ACVRLK3; 10q23del
    Summary
    The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]
    Orthologs
    See BMPR1A in Epigenomics, MapViewer
    Location:
    10q22.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (86755786..86925188)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (88516396..88684945)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378409 Neighboring gene opsin 4 Neighboring gene LIM domain binding 3 Neighboring gene RNA polymerase II associated protein 2 pseudogene 1 Neighboring gene RNA, U1 small nuclear 19, pseudogene Neighboring gene multimerin 2 Neighboring gene synuclein, gamma (breast cancer-specific protein 1) Neighboring gene ankyrin repeat and GTPase domain Arf GTPase activating protein 11 Neighboring gene adipogenesis regulatory factor

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hereditary mixed polyposis syndrome 2
    MedGen: C1864730 OMIM: 610069 GeneReviews: Not available
    Compare labs
    Juvenile polyposis syndrome
    MedGen: C0345893 OMIM: 174900 GeneReviews: Juvenile Polyposis Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2011-10-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2011-10-28)

    ClinGen Genome Curation Page

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Treatment of pulmonary arterial smooth muscle cells with HIV-1 gp120 downregulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins PubMed
    Nef nef Treatment of pulmonary arterial smooth muscle cells with HIV-1 Nef downregulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins PubMed
    Tat tat Treatment of pulmonary arterial smooth muscle cells with HIV-1 Tat modulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins PubMed

    Go to the HIV-1, Human Interaction Database

    • BMP signaling, organism-specific biosystem (from KEGG)
      BMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • BMP signaling, conserved biosystem (from KEGG)
      BMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • BMP signalling and regulation, organism-specific biosystem (from WikiPathways)
      BMP signalling and regulation, organism-specific biosystem"BMP signals are mediated by type I and II BMP receptors and their downstream molecules Smad1, 5 and 8. Phosphorylated Smad1, 5 and 8 proteins form a complex with Smad4 and then are translocated into...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
      Endochondral Ossification, organism-specific biosystem
      Endochondral Ossification
    • Heart Development, organism-specific biosystem (from WikiPathways)
      Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by BMP, organism-specific biosystem (from REACTOME)
      Signaling by BMP, organism-specific biosystemThe TGF-beta/BMP (bone morphogenetic protein) pathway incorporates several signalling pathways that share most, but not all, components of a central signal transduction engine. The general signalling...
    • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor signaling protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    BMP signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
     
    Mullerian duct regression IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to BMP stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    developmental growth IEA
    Inferred from Electronic Annotation
    more info
     
    dorsal/ventral axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    ectoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic organ development IEA
    Inferred from Electronic Annotation
    more info
     
    endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart formation IEA
    Inferred from Electronic Annotation
    more info
     
    hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    lateral mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    mesendoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    neural crest cell development IEA
    Inferred from Electronic Annotation
    more info
     
    neural plate mediolateral regionalization IEA
    Inferred from Electronic Annotation
    more info
     
    odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    palate development IEA
    Inferred from Electronic Annotation
    more info
     
    paraxial mesoderm structural organization IEA
    Inferred from Electronic Annotation
    more info
     
    pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of SMAD protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cellular senescence IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of lateral mesodermal cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction by protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    stem cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    HFE-transferrin receptor complex IC
    Inferred by Curator
    more info
    PubMed 
    colocalizes_with caveola IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    bone morphogenetic protein receptor type-1A
    Names
    ALK-3
    BMP type-1A receptor
    BMPR-1A
    activin A receptor, type II-like kinase 3
    activin receptor-like kinase 3
    serine/threonine-protein kinase receptor R5
    NP_004320.2

    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.

    Genomic

    1. NG_009362.1 RefSeqGene

      Range
      5001..173550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_298

    mRNA and Protein(s)

    1. NM_004329.2NP_004320.2  bone morphogenetic protein receptor type-1A precursor

      See identical proteins and their annotated locations for NP_004320.2

      Status: REVIEWED

      Source sequence(s)
      BC028383, BM819272, Z22535
      Consensus CDS
      CCDS7378.1
      UniProtKB/Swiss-Prot
      P36894
      Conserved Domains (3) summary
      pfam00069
      Location:237519
      Pkinase; Protein kinase domain
      pfam01064
      Location:59138
      Activin_recp; Activin types I and II receptor domain
      cd14220
      Location:238524
      STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

      Range
      86755786..86925188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540103.1XP_011538405.1  

      See identical proteins and their annotated locations for XP_011538405.1

      UniProtKB/Swiss-Prot
      P36894
      Conserved Domains (3) summary
      pfam00069
      Location:237519
      Pkinase; Protein kinase domain
      pfam01064
      Location:59138
      Activin_recp; Activin types I and II receptor domain
      cd14220
      Location:238524
      STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
    2. XM_011540104.1XP_011538406.1  

      See identical proteins and their annotated locations for XP_011538406.1

      UniProtKB/Swiss-Prot
      P36894
      Conserved Domains (3) summary
      pfam00069
      Location:237519
      Pkinase; Protein kinase domain
      pfam01064
      Location:59138
      Activin_recp; Activin types I and II receptor domain
      cd14220
      Location:238524
      STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      88798078..88966382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)