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    Bmpr1b bone morphogenetic protein receptor, type 1B [ Mus musculus (house mouse) ]

    Gene ID: 12167, updated on 27-Nov-2024

    Summary

    Official Symbol
    Bmpr1bprovided by MGI
    Official Full Name
    bone morphogenetic protein receptor, type 1Bprovided by MGI
    Primary source
    MGI:MGI:107191
    See related
    Ensembl:ENSMUSG00000052430 AllianceGenome:MGI:107191
    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
    Alk6; SKR6; ALK-6; Acvrlk6; BMPR-1B; BMPR-IB; CFK-43a
    Summary
    This gene encodes a serine/threonine kinase that functions as a receptor for bone morphogenetic proteins (BMPs). The encoded protein is a type I receptor, and forms a complex of two type II and two type I receptors at the cell membrane. This complex signals downstream to activate SMAD transcriptional regulators. This signaling is important in skeletal and bone development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
    Expression
    Biased expression in limb E14.5 (RPKM 1.8), frontal lobe adult (RPKM 1.8) and 11 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:
    3 H1; 3 66.11 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (141540230..141875335, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (141837135..142169585, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene pyruvate dehydrogenase E1 alpha 2 Neighboring gene STARR-seq mESC enhancer starr_09144 Neighboring gene STARR-seq mESC enhancer starr_09145 Neighboring gene unc-5 netrin receptor C Neighboring gene predicted gene 15689 Neighboring gene STARR-seq mESC enhancer starr_09146 Neighboring gene STARR-seq mESC enhancer starr_09149 Neighboring gene STARR-seq mESC enhancer starr_09150 Neighboring gene STARR-seq mESC enhancer starr_09151 Neighboring gene STARR-positive B cell enhancer mm9_chr3:141938065-141938366 Neighboring gene GABA(A) receptor-associated protein-like 2 pseudogene 3 Neighboring gene STARR-positive B cell enhancer mm9_chr3:141945756-141946056 Neighboring gene STARR-positive B cell enhancer ABC_E11225 Neighboring gene PDZ and LIM domain 5 Neighboring gene STARR-seq mESC enhancer starr_09153 Neighboring gene STARR-positive B cell enhancer ABC_E4601 Neighboring gene STARR-seq mESC enhancer starr_09155

    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)

    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 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 serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables transforming growth factor beta receptor 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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
     
    enables transmembrane receptor protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transmembrane signaling receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in 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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within camera-type eye development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cartilage condensation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell surface receptor protein serine/threonine kinase signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    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
     
    involved_in cellular response to growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within central nervous system neuron differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in chondrocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within chondrocyte differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in chondrocyte differentiation 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 
    involved_in endochondral bone morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in estrogen biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inflammatory response IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in negative regulation of chondrocyte proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ovarian cumulus expansion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ovulation cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 cartilage development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    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
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in proteoglycan biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retinal ganglion cell axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite 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 IC
    Inferred by Curator
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    bone morphogenetic protein receptor type-1B
    Names
    BMP type-1B receptor
    activin receptor-like kinase 6
    serine/threonine-protein kinase receptor R6
    NP_001264145.1
    NP_001264146.1
    NP_001264147.1
    NP_001264149.1
    NP_001341972.1
    NP_031586.1
    XP_006501002.1
    XP_006501003.1
    XP_006501005.1
    XP_006501006.1
    XP_030108258.1
    XP_036018761.1
    XP_036018762.1
    XP_036018763.1
    XP_036018764.1
    XP_036018765.1

    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_001277216.3NP_001264145.1  bone morphogenetic protein receptor type-1B isoform a precursor

      See identical proteins and their annotated locations for NP_001264145.1

      Status: VALIDATED

      Source sequence(s)
      AC139128, AC157492, AC161533
      Consensus CDS
      CCDS17874.1
      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
      Related
      ENSMUSP00000096167.2, ENSMUST00000098568.8
      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
    2. NM_001277217.3NP_001264146.1  bone morphogenetic protein receptor type-1B isoform a precursor

      See identical proteins and their annotated locations for NP_001264146.1

      Status: VALIDATED

      Source sequence(s)
      AC139128, AC157492
      Consensus CDS
      CCDS17874.1
      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
      Related
      ENSMUSP00000101837.2, ENSMUST00000106230.2
      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_001277218.2NP_001264147.1  bone morphogenetic protein receptor type-1B isoform a precursor

      See identical proteins and their annotated locations for NP_001264147.1

      Status: VALIDATED

      Source sequence(s)
      AC157492
      Consensus CDS
      CCDS17874.1
      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
      Related
      ENSMUSP00000101839.2, ENSMUST00000106232.8
      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
    4. NM_001277220.2NP_001264149.1  bone morphogenetic protein receptor type-1B isoform b

      See identical proteins and their annotated locations for NP_001264149.1

      Status: VALIDATED

      Source sequence(s)
      AC157492
      UniProtKB/TrEMBL
      Q3USS1
      Conserved Domains (3) summary
      smart00220
      Location:194478
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14219
      Location:187491
      STKc_BMPR1b; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type IB
      pfam01064
      Location:3199
      Activin_recp; Activin types I and II receptor domain
    5. NM_001355043.2NP_001341972.1  bone morphogenetic protein receptor type-1B isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AC157492
      Consensus CDS
      CCDS17874.1
      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
      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
    6. NM_001428393.1NP_001415322.1  bone morphogenetic protein receptor type-1B isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AC139128, AC157492, AC161533
      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
    7. NM_001428394.1NP_001415323.1  bone morphogenetic protein receptor type-1B isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AC139128, AC157492
      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
    8. NM_001428395.1NP_001415324.1  bone morphogenetic protein receptor type-1B isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AC139128, AC157492, AC161533
      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
    9. NM_001428396.1NP_001415325.1  bone morphogenetic protein receptor type-1B isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AC139128, AC157492
      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
    10. NM_001428397.1NP_001415326.1  bone morphogenetic protein receptor type-1B isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AC139128, AC157492, AC161533
      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
    11. NM_001428398.1NP_001415327.1  bone morphogenetic protein receptor type-1B isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AC157492
      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
    12. NM_007560.5NP_031586.1  bone morphogenetic protein receptor type-1B isoform a precursor

      See identical proteins and their annotated locations for NP_031586.1

      Status: VALIDATED

      Source sequence(s)
      AC157492
      Consensus CDS
      CCDS17874.1
      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
      Related
      ENSMUSP00000029948.8, ENSMUST00000029948.15
      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: 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_000069.7 Reference GRCm39 C57BL/6J

      Range
      141540230..141875335 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162871.1XP_036018764.1  bone morphogenetic protein receptor type-1B isoform X1

      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
      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_036162870.1XP_036018763.1  bone morphogenetic protein receptor type-1B isoform X1

      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_006500940.5XP_006501003.1  bone morphogenetic protein receptor type-1B isoform X1

      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_006500942.3XP_006501005.1  bone morphogenetic protein receptor type-1B isoform X1

      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_006500939.5XP_006501002.1  bone morphogenetic protein receptor type-1B isoform X1

      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
    6. XM_036162869.1XP_036018762.1  bone morphogenetic protein receptor type-1B isoform X1

      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
    7. XM_030252398.2XP_030108258.1  bone morphogenetic protein receptor type-1B isoform X1

      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
      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
    8. XM_036162868.1XP_036018761.1  bone morphogenetic protein receptor type-1B isoform X1

      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
    9. XM_006500943.5XP_006501006.1  bone morphogenetic protein receptor type-1B isoform X1

      See identical proteins and their annotated locations for XP_006501006.1

      UniProtKB/Swiss-Prot
      P36898, Q3TRF2
      UniProtKB/TrEMBL
      B2RRZ4
      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
    10. XM_036162872.1XP_036018765.1  bone morphogenetic protein receptor type-1B isoform X2

      Conserved Domains (1) summary
      cd14144
      Location:3289
      STKc_BMPR1; Catalytic domain of the Serine/Threonine Kinase, Bone Morphogenetic Protein Type I Receptor