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FLASH GENE
Symbol DBR1 contributors: mct - updated : 18-10-2016
HGNC name debranching RNA lariats 1
HGNC id 15594
Location 3q22.3      Physical location : 137.879.829 - 137.893.791
Synonym name
  • RNA lariat debranching enzyme
  • debranching enzyme homolog 1
  • EC.number 3.1.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 13.96 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2690 61.4 544 - 2015 25671812
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal metallophosphodiestearse domain
  • a conserved C terminal domain
  • HOMOLOGY
    intraspecies homolog to S.cerevisiae Drn1/Ygr093w
    Homologene
    FAMILY
  • calcineurin-like phosphodiesterase family
  • CATEGORY enzyme , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • lariat debranching enzyme, hydrolyzing the 2'-5' phosphodiaster linkage at the branchpoint of excised intron lariats
  • turnover of the branched RNA intermediates and products of pre-mRNA splicing is mediated by the lariat-debranching enzyme DBR1
  • is involved in the propagation of retrotransposons and retroviruses
  • is central to eukaryotic RNA metabolism
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of pliceosome
  • INTERACTION
    DNA
    RNA binding
    small molecule
    protein
  • interaction between DBR1 and several factors found in the Intron Large (IL) complex, which is an intermediate complex of the intron degradation pathway
  • CWF19L1 directly interacts with DBR1 through protein-protein interaction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerative 
    decreasing DBR1 activity could be a potential therapeutic approach for ALS
    ANIMAL & CELL MODELS
  • Knockdown of Dbr1 in a human neuronal cell line or in primary rat neurons is sufficient to rescue Tardbp toxicity