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

Gene ID: 23020, updated on 16-Apr-2024

Summary

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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; AllianceGenome:HGNC:30859
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
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Genomic context

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See SNRNP200 in Genome Data Viewer
Location:
2q11.2
Exon count:
45
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (96274338..96305546, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (96780946..96812154, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96940076..96971284, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 127 Neighboring gene VISTA enhancer hs1919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16213 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:96933152-96934351 Neighboring gene cytosolic iron-sulfur assembly component 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:96944520-96945719 Neighboring gene Sharpr-MPRA regulatory region 61 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:96972365-96972993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96991242-96991742 Neighboring gene ITPRIP like 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:97000977-97001818 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:97001819-97002660 Neighboring gene non-SMC condensin I complex subunit H

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Long-range allostery mediates cooperative adenine nucleotide binding by the Ski2-like RNA helicase Brr2. Absmeier E, et al. J Biol Chem, 2021 Jul. PMID 34048711, Free PMC Article
  2. Depletion of SNRNP200 inhibits the osteo-/dentinogenic differentiation and cell proliferation potential of stem cells from the apical papilla. Su X, et al. BMC Dev Biol, 2020 Nov 18. PMID 33203369, Free PMC Article
  3. Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa. Gerth-Kahlert C, et al. Invest Ophthalmol Vis Sci, 2019 Jul 1. PMID 31260034
  4. Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response. Tremblay N, et al. PLoS Pathog, 2016 Jul. PMID 27454487, Free PMC Article
  5. Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. Bowne SJ, et al. Mol Vis, 2013. PMID 24319334, Free PMC Article

See all (277) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Tracing Allostery in the Spliceosome Ski2-like RNA Helicase Brr2.
    Title: Tracing Allostery in the Spliceosome Ski2-like RNA Helicase Brr2.
  2. Depletion of SNRNP200 inhibits the osteo-/dentinogenic differentiation and cell proliferation potential of stem cells from the apical papilla.
    Title: Depletion of SNRNP200 inhibits the osteo-/dentinogenic differentiation and cell proliferation potential of stem cells from the apical papilla.
  3. Long-range allostery mediates cooperative adenine nucleotide binding by the Ski2-like RNA helicase Brr2.
    Title: Long-range allostery mediates cooperative adenine nucleotide binding by the Ski2-like RNA helicase Brr2.
  4. The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit.
    Title: The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit.
  5. FBP21's C-Terminal Domain Remains Dynamic When Wrapped around the c-Sec63 Unit of Brr2 Helicase
    Title: FBP21's C-Terminal Domain Remains Dynamic When Wrapped around the c-Sec63 Unit of Brr2 Helicase.
  6. The phenotype characteristics in autosomal dominant and recessive SNRNP200 mutations show distinct features, with earlier severe disease in the recessive case and a variable disease expression in the dominant inheritance pattern.
    Title: Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
  7. Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
    Title: Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
  8. Frame-shift mutations and nonconservative amino acid changes in PRPF8 typically cause severe clinical phenotypes. The conservative missense variant p.PRPF8-Arg2310Lys that is not altering the global charge of the C-terminal tail, and variants located at the basis of the C-terminal tail show milder clinical phenotypes, in accordance with functional data on PRPF8/SNRNP200 interactions in yeast.
    Title: Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.
  9. Biochemical and biophysical analyses revealed that an intrinsically disordered region of FBP21 binds to an extended surface of the C-terminal Sec63 unit of Brr2. Additional contacts in the C-terminal helicase cassette are required for allosteric inhibition of Brr2 helicase activity.
    Title: A new role for FBP21 as regulator of Brr2 helicase activity.
  10. This work identifies a novel immunoregulatory role of the spliceosomal SNRNP200 helicase as an RNA sensor and TBK1 adaptor for the activation of IRF3-mediated antiviral innate response
    Title: Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Retinitis pigmentosa 33
MedGen: C1835895 OMIM: 610359 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11521

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding HDA PubMed 
enables RNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA helicase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA helicase activity TAS
Traceable Author Statement
more info
  
enables helicase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cis assembly of pre-catalytic spliceosome IC
Inferred by Curator
more info
 PubMed 
involved_in mRNA splicing, via spliceosome IC
Inferred by Curator
more info
 PubMed 
involved_in mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mRNA splicing, via spliceosome NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
  
involved_in osteoblast differentiation HDA PubMed 
involved_in spliceosome conformational change to release U4 (or U4atac) and U1 (or U11) IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spliceosome conformational change to release U4 (or U4atac) and U1 (or U11) IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of U2-type catalytic step 1 spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U2-type precatalytic spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U4/U6 x U5 tri-snRNP complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U4/U6 x U5 tri-snRNP complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of U5 snRNP IDA
Inferred from Direct Assay
more info
 PubMed 
part_of catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
part_of spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of spliceosomal complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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)

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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.

Genomic

  1. NG_016973.1 RefSeqGene

    Range
    5014..36222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014014.5 → NP_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, O94884, Q6NZY0, Q6PX59, Q8NBE6, Q96IF2, Q9H7S0
    UniProtKB/TrEMBL
    A4FU77
    Related
    ENSP00000317123.5, ENST00000323853.10
    Conserved Domains (5) summary
    smart00611
    Location:1809 → 2125
    SEC63; Domain of unknown function in Sec63p, Brr2p and other proteins
    COG1204
    Location:452 → 1241
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    PRK00254
    Location:1310 → 1897
    PRK00254; ski2-like helicase; Provisional
    cd18021
    Location:1325 → 1515
    DEXHc_Brr2_2; C-terminal D[D/E]X[H/Q]-box helicase domain of spliceosomal Brr2 RNA helicase
    pfam18149
    Location:254 → 363
    Helicase_PWI; N-terminal helicase PWI domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    96780946..96812154 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75643.2 GenPept UniProtKB/Swiss-Prot:O75643

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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