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    BMPR1B bone morphogenetic protein receptor type 1B [ Homo sapiens (human) ]

    Gene ID: 658, updated on 9-Dec-2018

    Summary

    Official Symbol
    BMPR1Bprovided by HGNC
    Official Full Name
    bone morphogenetic protein receptor type 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:1077
    See related
    Ensembl:ENSG00000138696 MIM:603248
    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
    ALK6; AMDD; BDA2; ALK-6; BDA1D; CDw293
    Summary
    This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 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. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
    Expression
    Biased expression in prostate (RPKM 14.5), brain (RPKM 5.7) and 7 other tissues See more
    Orthologs

    Genomic context

    See BMPR1B in Genome Data Viewer
    Location:
    4q22.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (94757977..95158453)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (95679128..96079601)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1438 Neighboring gene BMPR1B divergent transcript Neighboring gene unc-5 netrin receptor C Neighboring gene uncharacterized LOC105377335 Neighboring gene uncharacterized LOC105377337

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Acromesomelic dysplasia, Demirhan type
    MedGen: C4225404 OMIM: 609441 GeneReviews: Not available
    Compare labs
    Brachydactyly, type a1, d
    MedGen: C4225183 OMIM: 616849 GeneReviews: Not available
    Compare labs
    Type A2 brachydactyly
    MedGen: C1832702 OMIM: 112600 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits.
    NHGRI GWA Catalog
    Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.
    NHGRI GWA Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    NHGRI GWA Catalog

    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 BioSystems

    • Axon guidance, organism-specific biosystem (from KEGG)
      Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, conserved biosystem (from KEGG)
      Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • 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
    • Bone Morphogenic Protein (BMP) Signalling and Regulation, organism-specific biosystem (from WikiPathways)
      Bone Morphogenic Protein (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 ...
    • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • 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...
    • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
      Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
    • 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 biosystemBone morphogenetic proteins (BMPs) have many biological activities in various tissues, including bone, cartilage, blood vessels, heart, kidney, neurons, liver and lung. They are members of the Transf...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transforming growth factor beta-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transmembrane receptor protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane receptor protein serine/threonine kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BMP signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
     
    cartilage condensation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cellular response to BMP stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chondrocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    endochondral bone morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    eye development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of chondrocyte proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ovarian cumulus expansion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ovulation cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pattern specification process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cartilage development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteoglycan biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    retinal ganglion cell axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    HFE-transferrin receptor complex IC
    Inferred by Curator
    more info
    PubMed 
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    receptor complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    bone morphogenetic protein receptor type-1B
    Names
    BMP type-1B receptor
    BMPR-1B
    activin receptor-like kinase 6
    bone morphogenetic protein receptor, type IB
    serine/threonine receptor kinase
    NP_001194.1
    NP_001243721.1
    NP_001243722.1
    NP_001243723.1
    XP_011530503.1
    XP_016864047.1
    XP_016864048.1
    XP_016864049.1
    XP_016864050.1

    NCBI Reference Sequences (RefSeq)

    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_009245.1 RefSeqGene

      Range
      5001..405474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001203.2NP_001194.1  bone morphogenetic protein receptor type-1B isoform b precursor

      See identical proteins and their annotated locations for NP_001194.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode isoform b.
      Source sequence(s)
      AC105395, AW299723, BC069796
      Consensus CDS
      CCDS3642.1
      UniProtKB/Swiss-Prot
      O00238
      Related
      ENSP00000426617.1, ENST00000515059.5
      Conserved Domains (2) summary
      cd14219
      Location:198502
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:30106
      Activin_recp; Activin types I and II receptor domain
    2. NM_001256792.1NP_001243721.1  bone morphogenetic protein receptor type-1B isoform b precursor

      See identical proteins and their annotated locations for NP_001243721.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode isoform b.
      Source sequence(s)
      AC092609, AC105395, AK313642
      Consensus CDS
      CCDS3642.1
      UniProtKB/Swiss-Prot
      O00238
      Related
      ENSP00000425444.1, ENST00000512312.5
      Conserved Domains (2) summary
      cd14219
      Location:198502
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:30106
      Activin_recp; Activin types I and II receptor domain
    3. NM_001256793.1NP_001243722.1  bone morphogenetic protein receptor type-1B isoform a precursor

      See identical proteins and their annotated locations for NP_001243722.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC105395, AK299930
      Consensus CDS
      CCDS58919.1
      UniProtKB/Swiss-Prot
      O00238
      Related
      ENSP00000401907.2, ENST00000440890.6
      Conserved Domains (3) summary
      smart00220
      Location:235519
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14219
      Location:228532
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:60140
      Activin_recp; Activin types I and II receptor domain
    4. NM_001256794.1NP_001243723.1  bone morphogenetic protein receptor type-1B isoform b precursor

      See identical proteins and their annotated locations for NP_001243723.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode isoform b.
      Source sequence(s)
      AC105395, AK293008, AK299930
      Consensus CDS
      CCDS3642.1
      UniProtKB/Swiss-Prot
      O00238
      UniProtKB/TrEMBL
      A8KAE3
      Related
      ENSP00000264568.4, ENST00000264568.8
      Conserved Domains (2) summary
      cd14219
      Location:198502
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:30106
      Activin_recp; Activin types I and II receptor domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      94757977..95158453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008559.1XP_016864048.1  bone morphogenetic protein receptor type-1B isoform X1

      UniProtKB/Swiss-Prot
      O00238
      Conserved Domains (2) summary
      cd14219
      Location:198502
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:30106
      Activin_recp; Activin types I and II receptor domain
    2. XM_011532201.2XP_011530503.1  bone morphogenetic protein receptor type-1B isoform X1

      See identical proteins and their annotated locations for XP_011530503.1

      UniProtKB/Swiss-Prot
      O00238
      Conserved Domains (2) summary
      cd14219
      Location:198502
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:30106
      Activin_recp; Activin types I and II receptor domain
    3. XM_017008558.1XP_016864047.1  bone morphogenetic protein receptor type-1B isoform X1

      UniProtKB/Swiss-Prot
      O00238
      Conserved Domains (2) summary
      cd14219
      Location:198502
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:30106
      Activin_recp; Activin types I and II receptor domain
    4. XM_017008561.1XP_016864050.1  bone morphogenetic protein receptor type-1B isoform X1

      UniProtKB/Swiss-Prot
      O00238
      Conserved Domains (2) summary
      cd14219
      Location:198502
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:30106
      Activin_recp; Activin types I and II receptor domain
    5. XM_017008560.1XP_016864049.1  bone morphogenetic protein receptor type-1B isoform X1

      UniProtKB/Swiss-Prot
      O00238
      Conserved Domains (2) summary
      cd14219
      Location:198502
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:30106
      Activin_recp; Activin types I and II receptor domain
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