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

    Gene ID: 658, updated on 9-Oct-2021

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BMPR1B in Genome Data Viewer
    Location:
    4q22.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (94757955..95158453)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (95679106..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 LOC105377337 Neighboring gene UNC5C antisense RNA 1

    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
    A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits.
    GeneReviews: Not available
    Acromesomelic dysplasia, Demirhan type
    MedGen: C4225404 OMIM: 609441 GeneReviews: Not available
    Compare labs
    Brachydactyly type A2
    MedGen: C1832702 OMIM: 112600 GeneReviews: Not available
    Compare labs
    Brachydactyly, type a1, d
    MedGen: C4225183 OMIM: 616849 GeneReviews: Not available
    Compare labs
    Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.
    GeneReviews: Not available
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    GeneReviews: Not available

    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 IEA
    Inferred from Electronic Annotation
    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 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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transmembrane receptor protein serine/threonine kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in BMP signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cartilage condensation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dorsal/ventral pattern formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in endochondral bone morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in eye development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of chondrocyte proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ovarian cumulus expansion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ovulation cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cartilage development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of extrinsic apoptotic signaling pathway via death domain receptors 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 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 protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteoglycan biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal ganglion cell axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of HFE-transferrin receptor complex IC
    Inferred by Curator
    more info
    PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of 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)

    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_009245.1 RefSeqGene

      Range
      4979..405472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001203.3NP_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 (2) 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)
      AC093634, AC105395, AW299723, BC069796
      Consensus CDS
      CCDS3642.1
      UniProtKB/Swiss-Prot
      O00238
      Related
      ENSP00000426617.1, ENST00000515059.6
      Conserved Domains (2) summary
      cd14219
      Location:198502
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:34106
      Activin_recp; Activin types I and II receptor domain
    2. NM_001256792.2NP_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:34106
      Activin_recp; Activin types I and II receptor domain
    3. NM_001256793.2NP_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)
      AC092609, AC105395, AK299930
      Consensus CDS
      CCDS58919.1
      UniProtKB/Swiss-Prot
      O00238
      Related
      ENSP00000401907.2, ENST00000440890.7
      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:34106
      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_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      94757955..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:34106
      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:34106
      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:34106
      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
      Related
      ENSP00000500035.1, ENST00000672698.1
      Conserved Domains (2) summary
      cd14219
      Location:198502
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:34106
      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
      Related
      ENSP00000421671.1, ENST00000509540.6
      Conserved Domains (2) summary
      cd14219
      Location:198502
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:34106
      Activin_recp; Activin types I and II receptor domain
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