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    SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 [ Homo sapiens (human) ]

    Gene ID: 23020, updated on 15-Jun-2019

    Summary

    Official Symbol
    SNRNP200provided by HGNC
    Official Full Name
    small nuclear ribonucleoprotein U5 subunit 200provided by HGNC
    Primary source
    HGNC:HGNC:30859
    See related
    Ensembl:ENSG00000144028 MIM:601664
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BRR2; RP33; HELIC2; ASCC3L1; U5-200KD
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 33.5), ovary (RPKM 29.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See SNRNP200 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (96274336..96305569, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96940074..96971307, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 127 Neighboring gene VISTA enhancer hs1919 Neighboring gene cytosolic iron-sulfur assembly component 1 Neighboring gene ITPRIP like 1 Neighboring gene non-SMC condensin I complex subunit H

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify small nuclear ribonucleoprotein 200kDa (SNRNP200), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify small nuclear ribonucleoprotein 200kDa (SNRNP200), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify small nuclear ribonucleoprotein 200kDa (SNRNP200), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify small nuclear ribonucleoprotein 200kDa (SNRNP200), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Rev rev HIV-1 Rev interacting protein, small nuclear ribonucleoprotein 200kDa (SNRNP200), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with SNRNP200 is increased by RRE PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
      Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...
    • Spliceosome, organism-specific biosystem (from KEGG)
      Spliceosome, organism-specific biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, conserved biosystem (from KEGG)
      Spliceosome, conserved biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, 35S U5-snRNP, organism-specific biosystem (from KEGG)
      Spliceosome, 35S U5-snRNP, organism-specific biosystemStructural complex; Genetic information processing; Spliceosome
    • Spliceosome, 35S U5-snRNP, conserved biosystem (from KEGG)
      Spliceosome, 35S U5-snRNP, conserved biosystemStructural complex; Genetic information processing; Spliceosome
    • Spliceosome, U4/U6.U5 tri-snRNP, organism-specific biosystem (from KEGG)
      Spliceosome, U4/U6.U5 tri-snRNP, organism-specific biosystemStructural complex; Genetic information processing; Spliceosome
    • Spliceosome, U4/U6.U5 tri-snRNP, conserved biosystem (from KEGG)
      Spliceosome, U4/U6.U5 tri-snRNP, conserved biosystemStructural complex; Genetic information processing; Spliceosome
    • mRNA Splicing, organism-specific biosystem (from REACTOME)
      mRNA Splicing, organism-specific biosystemThe process in which excision of introns from the primary transcript of messenger RNA (mRNA) is followed by ligation of the two exon termini exposed by removal of each intron, is called mRNA splicing...
    • mRNA Splicing - Major Pathway, organism-specific biosystem (from REACTOME)
      mRNA Splicing - Major Pathway, organism-specific biosystemThe splicing of pre-mRNA occurs within a large, very dynamic complex, designated the 'spliceosome'. The 50-60S spliceosomes are estimated to be 40-60 nm in diameter, and have molecular weights in the...
    • mRNA Splicing - Minor Pathway, organism-specific biosystem (from REACTOME)
      mRNA Splicing - Minor Pathway, organism-specific biosystemThe splicing of a subset of pre-mRNA introns occurs by a second pathway, designated the AT-AC or U12-dependent splicing pathway. AT-AC introns have highly conserved, non-canonical splice sites that ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11521

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding HDA PubMed 
    RNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    U2-type catalytic step 1 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    U2-type precatalytic spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    U4/U6 x U5 tri-snRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    U4/U6 x U5 tri-snRNP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    U5 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    U5 snRNP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane HDA PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    post-mRNA release spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    U5 small nuclear ribonucleoprotein 200 kDa helicase
    Names
    BRR2 homolog
    U5 snRNP-specific 200 kDa protein
    activating signal cointegrator 1 complex subunit 3-like 1
    bad response to refrigeration 2 homolog
    small nuclear ribonucleoprotein 200kDa (U5)
    small nuclear ribonucleoprotein, U5 200kDa subunit
    NP_054733.2

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_016973.1 RefSeqGene

      Range
      4991..36224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014014.5NP_054733.2  U5 small nuclear ribonucleoprotein 200 kDa helicase

      See identical proteins and their annotated locations for NP_054733.2

      Status: REVIEWED

      Source sequence(s)
      AB018331, AW190145, AY572488, DB067751
      Consensus CDS
      CCDS2020.1
      UniProtKB/Swiss-Prot
      O75643
      Related
      ENSP00000317123.5, ENST00000323853.10
      Conserved Domains (4) summary
      smart00611
      Location:18092125
      SEC63; Domain of unknown function in Sec63p, Brr2p and other proteins
      COG1204
      Location:4521241
      BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
      PRK00254
      Location:13101897
      PRK00254; ski2-like helicase; Provisional
      cd18021
      Location:13251515
      DEXHc_Brr2_2; C-terminal D[D/E]X[H/Q]-box helicase domain of spliceosomal Brr2 RNA helicase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      96274338..96305546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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