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Aliases for SNRNP200 Gene

Aliases for SNRNP200 Gene

  • Small Nuclear Ribonucleoprotein 200kDa (U5) 2 3
  • Activating Signal Cointegrator 1 Complex Subunit 3-Like 1 2 3 4
  • ASCC3L1 3 4 6
  • U5 SnRNP-Specific 200 KDa Protein 3 4
  • BRR2 Homolog 3 4
  • U5-200KD 3 4
  • KIAA0788 4 6
  • HELIC2 3 4
  • RP33 3 6
  • U5 Small Nuclear Ribonucleoprotein 200 KDa Helicase 3
  • Retinitis Pigmentosa 33 (Autosomal Dominant) 2
  • U5 SnRNP Specific Protein 2
  • EC 3.6.4.13 4
  • EC 3.6.1 63
  • 200 KD 2
  • BRR2 3

External Ids for SNRNP200 Gene

Previous HGNC Symbols for SNRNP200 Gene

  • ASCC3L1
  • RP33

Previous GeneCards Identifiers for SNRNP200 Gene

  • GC02M096940
  • GC02M090901

Summaries for SNRNP200 Gene

Entrez Gene Summary for SNRNP200 Gene

  • 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]

GeneCards Summary for SNRNP200 Gene

SNRNP200 (Small Nuclear Ribonucleoprotein 200kDa (U5)) is a Protein Coding gene. Diseases associated with SNRNP200 include retinitis pigmentosa 33 and snrnp200-related retinitis pigmentosa. Among its related pathways are Gene Expression and Spliceosome. GO annotations related to this gene include identical protein binding and ATP-dependent helicase activity. An important paralog of this gene is POLN.

UniProtKB/Swiss-Prot for SNRNP200 Gene

  • RNA helicase that plays an essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome.

Gene Wiki entry for SNRNP200 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNRNP200 Gene

Genomics for SNRNP200 Gene

Regulatory Elements for SNRNP200 Gene

Genomic Location for SNRNP200 Gene

Start:
96,274,336 bp from pter
End:
96,305,569 bp from pter
Size:
31,234 bases
Orientation:
Minus strand

Genomic View for SNRNP200 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SNRNP200 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNRNP200 Gene

Proteins for SNRNP200 Gene

  • Protein details for SNRNP200 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75643-U520_HUMAN
    Recommended name:
    U5 small nuclear ribonucleoprotein 200 kDa helicase
    Protein Accession:
    O75643
    Secondary Accessions:
    • O94884
    • Q6NZY0
    • Q6PX59
    • Q8NBE6
    • Q96IF2
    • Q9H7S0

    Protein attributes for SNRNP200 Gene

    Size:
    2136 amino acids
    Molecular mass:
    244508 Da
    Quaternary structure:
    • Component of a core complex containing at least PRPF8, SNRNP200, EFTUD2 and SNRNP40. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, NHP2L1, EFTUD2, SART1 and USP39. Identified in the spliceosome C complex.
    SequenceCaution:
    • Sequence=BAB14906.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SNRNP200 Gene

    Alternative splice isoforms for SNRNP200 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNRNP200 Gene

Proteomics data for SNRNP200 Gene at MOPED

Selected DME Specific Peptides for SNRNP200 Gene

Post-translational modifications for SNRNP200 Gene

  • Ubiquitination at Lys358, Lys426, Lys469, Lys479, Lys557, Lys770, Lys1039, Lys1421, Lys1431, Lys1544, and Lys1961
  • Modification sites at PhosphoSitePlus

Other Protein References for SNRNP200 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for SNRNP200 Gene

Graphical View of Domain Structure for InterPro Entry

O75643

UniProtKB/Swiss-Prot:

U520_HUMAN :
  • O75643
Domain:
  • Contains two helicase domains. The N-terminal helicase domain has catalytic activity by itself, contrary to the C-terminal helicase domain that may have a regulatory role and enhance the activity of the first helicase domain.
  • Contains 2 helicase ATP-binding domains.
  • Contains 2 helicase C-terminal domains.
  • Contains 2 SEC63 domains.
Family:
  • Belongs to the helicase family. SKI2 subfamily.
genes like me logo Genes that share domains with SNRNP200: view

No data available for Gene Families for SNRNP200 Gene

Function for SNRNP200 Gene

Molecular function for SNRNP200 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
RNA helicase that plays an essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome.

Enzyme Numbers (IUBMB) for SNRNP200 Gene

Gene Ontology (GO) - Molecular Function for SNRNP200 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding --
GO:0004004 ATP-dependent RNA helicase activity IDA 23045696
GO:0004386 helicase activity --
GO:0005515 protein binding IPI 18951082
genes like me logo Genes that share ontologies with SNRNP200: view
genes like me logo Genes that share phenotypes with SNRNP200: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNRNP200

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for SNRNP200 Gene

Localization for SNRNP200 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNRNP200 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNRNP200 Gene COMPARTMENTS Subcellular localization image for SNRNP200 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SNRNP200 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 22720776
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IDA 8670905
GO:0005682 U5 snRNP IDA 9539711
GO:0016020 membrane IDA 16210410
genes like me logo Genes that share ontologies with SNRNP200: view

Pathways for SNRNP200 Gene

genes like me logo Genes that share pathways with SNRNP200: view

Pathways by source for SNRNP200 Gene

Gene Ontology (GO) - Biological Process for SNRNP200 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000354 cis assembly of pre-catalytic spliceosome IC 9539711
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0001649 osteoblast differentiation IDA 16210410
GO:0006200 obsolete ATP catabolic process --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with SNRNP200: view

Transcripts for SNRNP200 Gene

Unigene Clusters for SNRNP200 Gene

Small nuclear ribonucleoprotein 200kDa (U5):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNRNP200

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNRNP200 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24a ·
SP1: -
SP2: - - - - - - - - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^ 34a · 34b ^ 35a · 35b ^ 36a · 36b · 36c ^ 37 ^ 38a · 38b · 38c ^ 39 ^
SP1: - - - - - - -
SP2: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: -
SP10:

ExUns: 40 ^ 41 ^ 42 ^ 43 ^ 44a · 44b ^ 45
SP1:
SP2: - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SNRNP200 Gene

GeneLoc Exon Structure for
SNRNP200
ECgene alternative splicing isoforms for
SNRNP200

Expression for SNRNP200 Gene

mRNA expression in normal human tissues for SNRNP200 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for SNRNP200 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.3), Retina (8.3), and Fetal ovary (6.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNRNP200 Gene

SOURCE GeneReport for Unigene cluster for SNRNP200 Gene Hs.246112

mRNA Expression by UniProt/SwissProt for SNRNP200 Gene

O75643-U520_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with SNRNP200: view

Expression partners for SNRNP200 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SNRNP200 Gene

Orthologs for SNRNP200 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNRNP200 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SNRNP200 35
  • 90.42 (n)
  • 99.3 (a)
SNRNP200 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNRNP200 35
  • 92.32 (n)
  • 99.49 (a)
mouse
(Mus musculus)
Mammalia Snrnp200 35
  • 90.89 (n)
  • 99.67 (a)
Snrnp200 16
Snrnp200 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNRNP200 35
  • 99.77 (n)
  • 100 (a)
SNRNP200 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snrnp200 35
  • 90.7 (n)
  • 99.81 (a)
oppossum
(Monodelphis domestica)
Mammalia SNRNP200 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
chicken
(Gallus gallus)
Aves SNRNP200 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNRNP200 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snrnp200 35
  • 80.17 (n)
  • 94.85 (a)
Str.1682 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
snrnp200 35
  • 78.64 (n)
  • 90.53 (a)
snrnp200 36
  • 90 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001519 35
  • 68.71 (n)
  • 74.84 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(3)72Ab 35
  • 68.53 (n)
  • 74.91 (a)
l(3)72Ab 36
  • 75 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea snrp-200 35
  • 60.58 (n)
  • 61.65 (a)
snrp-200 36
  • 61 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR113W 35
  • 48.6 (n)
  • 41.59 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17798g 35
  • 47.25 (n)
  • 39.64 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BRR2 35
  • 47.55 (n)
  • 41.44 (a)
BRR2 36
  • 39 (a)
OneToMany
BRR2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1507 35
  • 59.55 (n)
  • 58.48 (a)
soybean
(Glycine max)
eudicotyledons Gma.7556 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7050 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02685 35
  • 58.24 (n)
  • 52.66 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes brr2 35
  • 52.87 (n)
  • 49.79 (a)
Species with no ortholog for SNRNP200:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNRNP200 Gene

ENSEMBL:
Gene Tree for SNRNP200 (if available)
TreeFam:
Gene Tree for SNRNP200 (if available)

Paralogs for SNRNP200 Gene

Paralogs for SNRNP200 Gene

Selected SIMAP similar genes for SNRNP200 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for SNRNP200 Gene

genes like me logo Genes that share paralogs with SNRNP200: view

Variants for SNRNP200 Gene

Sequence variations from dbSNP and Humsavar for SNRNP200 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs11937 -- 96,274,928(-) GGGGA(C/G)CAGGT utr-variant-3-prime
rs752914 -- 96,282,703(+) tctct(C/T)ggtcc intron-variant
rs772175 -- 96,278,815(+) CTGCA(A/G)GTTGT reference, synonymous-codon
rs772176 -- 96,290,577(-) TAGAT(A/C)CCTGC intron-variant
rs772177 -- 96,294,733(+) TCCTG(A/C)TTCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNRNP200 Gene

Variant ID Type Subtype PubMed ID
dgv650e201 CNV Deletion 23290073
esv5003 CNV Complex 18987735
nsv874677 CNV Loss 21882294
nsv834305 CNV Gain 17160897
nsv874679 CNV Gain 21882294
nsv508155 CNV Loss 20534489

Relevant External Links for SNRNP200 Gene

HapMap Linkage Disequilibrium report
SNRNP200
Human Gene Mutation Database (HGMD)
SNRNP200

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNRNP200 Gene

Disorders for SNRNP200 Gene

(1) OMIM Diseases for SNRNP200 Gene (601664)

UniProtKB/Swiss-Prot

U520_HUMAN
  • Retinitis pigmentosa 33 (RP33) [MIM:610359]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:16723661, ECO:0000269 PubMed:19710410, ECO:0000269 PubMed:19878916, ECO:0000269 PubMed:21618346, ECO:0000269 PubMed:23029027, ECO:0000269 PubMed:23887765, ECO:0000269 PubMed:24319334}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SNRNP200 Gene

genes like me logo Genes that share disorders with SNRNP200: view

No data available for Novoseek inferred disease relationships , Genatlas and External Links for SNRNP200 Gene

Publications for SNRNP200 Gene

  1. The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro. (PMID: 9539711) Laggerbauer B. … Luehrmann R. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23
  2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4
  3. The HeLa 200 kDa U5 snRNP-specific protein and its homologue in Saccharomyces cerevisiae are members of the DEXH-box protein family of putative RNA helicases. (PMID: 8670905) Lauber J. … Luehrmann R. (EMBO J. 1996) 2 3 4
  4. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. (PMID: 19878916) Zhao C. … Larsson C. (Am. J. Hum. Genet. 2009) 2 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4

Products for SNRNP200 Gene

Sources for SNRNP200 Gene

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