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    BMPR1A bone morphogenetic protein receptor type 1A [ Homo sapiens (human) ]

    Gene ID: 657, updated on 8-Jul-2021

    Summary

    Official Symbol
    BMPR1Aprovided by HGNC
    Official Full Name
    bone morphogenetic protein receptor type 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:1076
    See related
    Ensembl:ENSG00000107779 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]
    Expression
    Ubiquitous expression in thyroid (RPKM 14.8), endometrium (RPKM 10.0) and 23 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:
    10q23.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (86755786..86927969)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (88516376..88687726)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378409 Neighboring gene VISTA enhancer hs2143 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 Sharpr-MPRA regulatory region 4131 Neighboring gene Sharpr-MPRA regulatory region 565 Neighboring gene multimerin 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Generalized juvenile polyposis/juvenile polyposis coli
    MedGen: C1868081 OMIM: 174900 GeneReviews: Juvenile Polyposis Syndrome
    Compare labs
    Hereditary mixed polyposis syndrome 2
    MedGen: C1864730 OMIM: 610069 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-06-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-24)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    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
    bone morphogenetic protein receptor, type IA
    serine/threonine-protein kinase receptor R5
    NP_004320.2
    XP_011538405.1
    XP_011538406.1

    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.

    Genomic

    1. NG_009362.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_004329.3NP_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)
      AC021036, AC025268, AC067750
      Consensus CDS
      CCDS7378.1
      UniProtKB/Swiss-Prot
      P36894
      Related
      ENSP00000361107.2, ENST00000372037.8
      Conserved Domains (3) summary
      smart00221
      Location:234521
      STYKc; Protein kinase; unclassified specificity
      cd14220
      Location:238524
      STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
      pfam01064
      Location:59138
      Activin_recp; Activin types I and II receptor domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      86755786..86927969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540103.2XP_011538405.1  bone morphogenetic protein receptor type-1A isoform X1

      See identical proteins and their annotated locations for XP_011538405.1

      UniProtKB/Swiss-Prot
      P36894
      Related
      ENSP00000490273.1, ENST00000636056.1
      Conserved Domains (3) summary
      smart00221
      Location:234521
      STYKc; Protein kinase; unclassified specificity
      cd14220
      Location:238524
      STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
      pfam01064
      Location:59138
      Activin_recp; Activin types I and II receptor domain
    2. XM_011540104.2XP_011538406.1  bone morphogenetic protein receptor type-1A isoform X1

      See identical proteins and their annotated locations for XP_011538406.1

      UniProtKB/Swiss-Prot
      P36894
      Conserved Domains (3) summary
      smart00221
      Location:234521
      STYKc; Protein kinase; unclassified specificity
      cd14220
      Location:238524
      STKc_BMPR1a; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IA Receptor
      pfam01064
      Location:59138
      Activin_recp; Activin types I and II receptor domain
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