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Symbol SNRNP200 contributors: mct/npt/shn - updated : 23-03-2018
HGNC name small nuclear ribonucleoprotein 200kDa (U5)
HGNC id 30859
Corresponding disease
RP33 retinitis pigmentosa 33
Location 2q11.2      Physical location : 96.940.074 - 96.971.297
Synonym name
  • U5 snRNP-specific protein, 200-KD
  • activating signal cointegrator 1 complex subunit 3-like 1
  • BRR2 homolog
  • U5 small nuclear ribonucleoprotein 200 kDa helicase
  • U5 snRNP-specific 200 kDa protein
  • activating signal cointegrator 1 complex subunit 3-like 1
  • Synonym symbol(s) KIAA0788, U5-200KD, HELIC2, BRR2, ASCC3L1, FLJ11521, RP33
    TYPE functioning gene
    STRUCTURE 31.22 kb     45 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen - D2S2154 - D2S2159 - SNRNP200 - D2S113 - D2S2222 - qter
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    45 - 7184 200 2136 - 2016 27454487
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Endocrinepancreas   highly
    Lymphoid/Immunespleen   highly
    Nervousbrain   highly
    Reproductivefemale systemovary  highly
     male systemtestis  highly
    Respiratorylung   highly
    Urinarykidney   highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal moderately
    cell lineage
    cell lines
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, fetal brain
  • two ring-like helicase cassettes intimately interact and functionally cooperate
  • N-terminal region encompasses two folded domains and adjacent linear elements that clamp and interconnect the helicase cassettes , serving as a versatile protein-protein interaction platform in the spliceosome and some interactions require or are reinforced by the PWI-like domain
  • two DEXH motifs (DEIH and DEVH)
  • the two tandem helicase cassettes both comprise dual RecA-like domains and a noncanonical Sec63 unit (Pena 2009)
  • C-terminal cassette does not seem to engage RNA in the same fashion, it binds ATP and strongly stimulates the N-terminal helicase
  • mono polymer heteromer , polymer
    interspecies ortholog to Snrnp200, Mus musculus
    ortholog to SNRNP200, Pan troglodytes
  • DEXH-box family of putative RNA helicases
  • CATEGORY enzyme , motor/contractile , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • catalyzes unwinding of the U4/U6 RNA duplex in the spliceosome (Laggerbauer et al, 1998)
  • RNA helicase involved in the second step of RNA splicing
  • promoting one or more coformational changes in the dynamic network of RNA-RNA interactions in the spliceosome
  • plays a central and conserved role in nuclear pre-mRNA splicing (Zhao 2009)
  • its function is necessary for unwinding the U4/U6 duplex, a step essential for catalytic activation of the spliceosome (Maeder 2009)
  • essential for U4/U6 di-small nuclear ribonucleoprotein disruption during spliceosome catalytic activation and for spliceosome disassembly, and is the only member of this group that is permanently associated with the spliceosome, thus requiring its faithful regulation
  • Ski2-like RNA helicase , and core component of the spliceosome that must be tightly regulated to ensure correct timing of spliceosome activation
  • DExD/H box RNA helicase crucial for pre-mRNA splicing
  • is required for the assembly of a catalytically active spliceosome on a messenger RNA precursor
  • SNRNP200 helicase provides the key remodeling activity for spliceosome catalytic activation, during which it disrupts the U4/U6 di-snRNP (small nuclear RNA protein), and its activity has to be tightly regulated
  • novel immunoregulatory role of the spliceosomal SNRNP200 helicase as an RNA sensor and TBK1 adaptor for the activation of IRF3-mediated antiviral innate response
  • pre-mRNA splicing factor PRPF8 is a crucial component of the U5 snRNP, and together with EFTUD2 and SNRNP200, it forms a central module of the spliceosome
  • CELLULAR PROCESS nucleotide, RNA splicing
    a component
  • one of the nine specific proteins of U5 SNRNP complex
  • involved in a tri-snRNP complex U4/U6-U5
  • pre-mRNA splicing factor PRPF8 is a crucial component of the U5 snRNP, and together with EFTUD2 and SNRNP200, it forms a central module of the spliceosome
    RNA binding
    small molecule nucleotide,
  • ATP
  • protein
  • PRPF8 protein, a major regulator of the spliceosome, can insert its C-terminal tail into SNRNP200 RNA-binding tunnel, thereby intermittently blocking SNRNP200 RNA-binding, adenosine triphosphatase, and U4/U6 unwinding activities
  • SNW1 interacted with the N-terminus of EFTUD2 as well as two independent regions in the C-terminus of SNRNP200
  • promotes viral RNA sensing and IRF3 activation through the ability of its amino-terminal Sec63 domain (Sec63-1) to bind RNA and to interact with TBK1
  • WBP4 is a novel key player in the regulation of SNRNP200
  • cell & other
    corresponding disease(s) RP33
    Variant & Polymorphism
    Candidate gene
    Therapy target