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    Dbr1 debranching RNA lariats 1 [ Mus musculus (house mouse) ]

    Gene ID: 83703, updated on 9-Dec-2024

    Summary

    Official Symbol
    Dbr1provided by MGI
    Official Full Name
    debranching RNA lariats 1provided by MGI
    Primary source
    MGI:MGI:1931520
    See related
    Ensembl:ENSMUSG00000032469 AllianceGenome:MGI:1931520
    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
    Summary
    Enables RNA lariat debranching enzyme activity. Acts upstream of or within mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and hemolymphoid system. Human ortholog(s) of this gene implicated in brain disease. Orthologous to human DBR1 (debranching RNA lariats 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 8.4), liver E14 (RPKM 7.1) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Dbr1 in Genome Data Viewer
    Location:
    9 E3.3; 9 51.86 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (99457839..99467060)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (99575786..99585007)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1600029I14 gene Neighboring gene NME/NM23 family member 9 Neighboring gene STARR-seq mESC enhancer starr_25026 Neighboring gene armadillo repeat containing 8 Neighboring gene STARR-positive B cell enhancer ABC_E6796 Neighboring gene alpha-1,4-N-acetylglucosaminyltransferase Neighboring gene DAZ interacting protein 1-like

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (2) 
    • Targeted (2) 

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA lariat debranching enzyme activity  
    enables RNA lariat debranching enzyme activity PubMed 
    enables RNA lariat debranching enzyme activity  
    enables RNA lariat debranching enzyme activity  
    enables metal ion binding  
    Component Evidence Code Pubs
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus  
    located_in nucleus  

    General protein information

    Preferred Names
    lariat debranching enzyme
    Names
    debranching enzyme homolog 1
    NP_001355227.1
    NP_113580.2

    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_001368298.1NP_001355227.1  lariat debranching enzyme isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC156497
    2. NM_031403.3NP_113580.2  lariat debranching enzyme isoform 1

      See identical proteins and their annotated locations for NP_113580.2

      Status: VALIDATED

      Source sequence(s)
      AK050090
      Consensus CDS
      CCDS23435.1
      UniProtKB/Swiss-Prot
      Q8C1T9, Q8C7J7, Q923B1, Q99MT1
      Related
      ENSMUSP00000070991.6, ENSMUST00000066650.12
      Conserved Domains (3) summary
      cd00844
      Location:3264
      MPP_Dbr1_N; Dbr1 RNA lariat debranching enzyme, N-terminal metallophosphatase domain
      pfam00149
      Location:1229
      Metallophos; Calcineurin-like phosphoesterase
      pfam05011
      Location:246377
      DBR1; Lariat debranching enzyme, C-terminal 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_000075.7 Reference GRCm39 C57BL/6J

      Range
      99457839..99467060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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