Version: 8.0.0
Date: Tue Jan 28 2025
SNRNP200
Homo sapiensHGNC:30859
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SNRNP200

Species
Homo sapiens
Symbol
SNRNP200
Name
small nuclear ribonucleoprotein U5 subunit 200
Synonyms
  • activating signal cointegrator 1 complex subunit 3-like 1
  • ASCC3L1
Biotype
protein coding gene
Automated Description
Enables RNA helicase activity and identical protein binding activity. Involved in spliceosome conformational change to release U4 (or U4atac) and U1 (or U11). Located in nucleoplasm. Part of spliceosomal complex and spliceosomal snRNP complex. Implicated in retinitis pigmentosa and retinitis pigmentosa 33.
RGD Description
Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR47961
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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    Allele Synonyms
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
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      Knock-down targets
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          SNRNP200 molecule type
          Interactor gene
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            Genetic Interactions

            SNRNP200 role
            SNRNP200 genetic perturbation
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