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    bmpr1aa bone morphogenetic protein receptor, type IAa [ Danio rerio (zebrafish) ]

    Gene ID: 58145, updated on 9-Dec-2024

    Summary

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    Official Symbol
    bmpr1aaprovided by ZNC
    Official Full Name
    bone morphogenetic protein receptor, type IAaprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-000502-1
    See related
    Ensembl:ENSDARG00000019728 AllianceGenome:ZFIN:ZDB-GENE-000502-1
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    BR1a; alk3; alk3tr; bmpr1a; BMPR-IA; zgc:136731
    Summary
    Predicted to enable SMAD binding activity and transforming growth factor beta receptor activity, type I. Acts upstream of or within with a positive effect on SMAD protein signal transduction. Acts upstream of or within BMP signaling pathway; circulatory system development; and dorsal/ventral pattern formation. Part of BMP receptor complex. Is expressed in several structures, including blastoderm; digestive system; germ ring; ovarian follicle; and posterior cardinal vein. Human ortholog(s) of this gene implicated in hereditary mixed polyposis syndrome 2; intestinal disease; and juvenile polyposis syndrome. Orthologous to human BMPR1A (bone morphogenetic protein receptor type 1A). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See bmpr1aa in Genome Data Viewer
    Location:
    chromosome: 13
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 13 NC_007124.7 (22555791..22619802)
    105 previous assembly GRCz10 (GCF_000002035.5) 13 NC_007124.6 (22425229..22489352)

    Chromosome 13 - NC_007124.7Genomic Context describing neighboring genes Neighboring gene opsin 4a (melanopsin) Neighboring gene LIM domain binding 3a Neighboring gene multimerin 2a Neighboring gene zgc:193505 Neighboring gene synuclein, gamma a

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A. Demal TJ, et al. Sci Rep, 2019 Feb 27. PMID 30814609, Free PMC Article
    2. Molecular cloning, expression and characterization of the zebrafish bram1 gene, a BMP receptor-associated molecule. Wu KM, et al. J Biomed Sci, 2006 May. PMID 16456708
    3. A tale of two receptors: Bmp heterodimers recruit two type I receptors but use the kinase activity of only one. Christian J. Proc Natl Acad Sci U S A, 2021 May 11. PMID 33893177, Free PMC Article
    4. BMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translation. Jardin N, et al. Development, 2018 Sep 12. PMID 30082270, Free PMC Article
    5. Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1(R206H) -Specific Human Cellular and Zebrafish Models. Wentworth KL, et al. J Bone Miner Res, 2022 Nov. PMID 36153796, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A tale of two receptors: Bmp heterodimers recruit two type I receptors but use the kinase activity of only one.
      Title: A tale of two receptors: Bmp heterodimers recruit two type I receptors but use the kinase activity of only one.
    2. BMP heterodimers signal via distinct type I receptor class functions.
      Title: BMP heterodimers signal via distinct type I receptor class functions.
    3. Data show that BMP signalling controls venous identity via the bone morphogenetic protein receptor type-1A receptor(ALK3/BMPR1A).
      Title: Venous identity requires BMP signalling through ALK3.
    4. Alk3 and Alk3b, as well as SMAD5, are essential cellular mediators of BMP signaling in zebrfish.
      Title: Alk3/Alk3b and Smad5 mediate BMP signaling during lymphatic development in zebrafish.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC136731

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase 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
    		  
    enables transmembrane receptor protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within BMP signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cardiac cell fate specification IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cell surface receptor protein serine/threonine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within determination of heart left/right asymmetry IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of heart left/right asymmetry 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 
    acts_upstream_of_or_within embryonic heart tube left/right pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    		  
    acts_upstream_of_or_within heart looping IMP
    Inferred from Mutant Phenotype
    more info
    		  
    acts_upstream_of_or_within left/right pattern formation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within left/right pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lymph vessel development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of BMP receptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    bone morphogenetic protein receptor, type IAa
    Names
    alk3a
    bone morphogenetic protein receptor, type 1a
    bone morphogenetic protein receptor, type 1aa
    NP_571696.2
    XP_005156936.1
    XP_009305624.1
    XP_021336337.1
    XP_021336340.1

    NCBI Reference Sequences (RefSeq)

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    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_131621.3 → NP_571696.2  bone morphogenetic protein receptor, type IAa precursor

      See identical proteins and their annotated locations for NP_571696.2

      Status: VALIDATED

      Source sequence(s)
      BX005174, CT573135
      UniProtKB/TrEMBL
      A0A8M1PCF6, Q1RLX1
      Related
      ENSDARP00000015287.7, ENSDART00000026768.9
      Conserved Domains (3) summary
      pfam01064
      Location:59 → 134
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:200 → 227
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:233 → 519
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007124.7 Reference GRCz11 Primary Assembly

      Range
      22555791..22619802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005156879.5 → XP_005156936.1  bone morphogenetic protein receptor, type IAa isoform X2

      See identical proteins and their annotated locations for XP_005156936.1

      UniProtKB/TrEMBL
      A0A8M9QFK7, B3DJG0
      Related
      ENSDARP00000152766.1, ENSDART00000183723.1
      Conserved Domains (3) summary
      pfam01064
      Location:58 → 133
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:199 → 226
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:232 → 518
      PKc_like; Protein Kinases, catalytic domain

    2. XM_009307349.4 → XP_009305624.1  bone morphogenetic protein receptor, type IAa isoform X1

      See identical proteins and their annotated locations for XP_009305624.1

      UniProtKB/TrEMBL
      A0A8M1PCF6, Q1RLX1
      Related
      ENSDARP00000150931.1, ENSDART00000193633.1
      Conserved Domains (3) summary
      pfam01064
      Location:59 → 134
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:200 → 227
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:233 → 519
      PKc_like; Protein Kinases, catalytic domain

    3. XM_021480665.2 → XP_021336340.1  bone morphogenetic protein receptor, type IAa isoform X3

      UniProtKB/TrEMBL
      A0A8M9QNI7
      Conserved Domains (2) summary
      pfam08515
      Location:100 → 127
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:133 → 419
      PKc_like; Protein Kinases, catalytic domain

    4. XM_021480662.2 → XP_021336337.1  bone morphogenetic protein receptor, type IAa isoform X1

      UniProtKB/TrEMBL
      A0A8M1PCF6, Q1RLX1
      Conserved Domains (3) summary
      pfam01064
      Location:59 → 134
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:200 → 227
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      cl21453
      Location:233 → 519
      PKc_like; Protein Kinases, catalytic domain

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018394884.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      36379..63256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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