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SNRNP200 Gene

protein-coding   GIFtS: 61
GCID: GC02M096940

Small Nuclear Ribonucleoprotein 200kDa (U5)

(Previous names: activating signal cointegrator 1 complex subunit 3-like...)
(Previous symbols: ASCC3L1, RP33)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Small Nuclear Ribonucleoprotein 200kDa (U5)1 2     KIAA07883 5
ASCC3L11 2 3 5     200 KD1
Activating Signal Cointegrator 1 Complex Subunit 3-Like 11 2 3     Retinitis Pigmentosa 33 (Autosomal Dominant)1
RP331 2 5     U5 SnRNP Specific Protein1
HELIC22 3     BRR22
U5-200KD2 3     U5 Small Nuclear Ribonucleoprotein 200 KDa Helicase2
BRR2 Homolog2 3     EC 3.6.4.133
U5 SnRNP-Specific 200 KDa Protein2 3     EC 3.6.18

External Ids:    HGNC: 308591   Entrez Gene: 230202   Ensembl: ENSG000001440287   OMIM: 6016645   UniProtKB: O756433   

Export aliases for SNRNP200 gene to outside databases

Previous GC identifers: GC02M096304 GC02M090901


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 snrnp200-related retinitis pigmentosa, and retinitis pigmentosa 33. GO annotations related to this gene include identical protein binding and ATP-dependent helicase activity. An important paralog of this gene is HELQ.

UniProtKB/Swiss-Prot: U520_HUMAN, O75643
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

Gene Wiki entry for SNRNP200 (ASCC3L1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNRNP200 gene promoter:
         Oct-B1   Elk-1   oct-B3   oct-B2   Nkx5-1   Evi-1   Arnt   SRY   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNRNP200 promoter sequence
   Search Chromatin IP Primers for SNRNP200

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNRNP200


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q11.2   Ensembl cytogenetic band:  2q11.2   HGNC cytogenetic band: 2q11.2

SNRNP200 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNRNP200 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M096940:  view genomic region     (about GC identifiers)

Start:
96,940,074 bp from pter      End:
96,971,307 bp from pter
Size:
31,234 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: U520_HUMAN, O75643 (See protein sequence)
Recommended Name: U5 small nuclear ribonucleoprotein 200 kDa helicase  
Size: 2136 amino acids; 244508 Da
Subunit: 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
Sequence caution: Sequence=BAB14906.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
5 PDB 3D structures from and Proteopedia for SNRNP200:
2Q0Z (3D)        4F91 (3D)        4F92 (3D)        4F93 (3D)        4KIT (3D)    
Secondary accessions: O94884 Q6NZY0 Q6PX59 Q8NBE6 Q96IF2 Q9H7S0
Alternative splicing: 2 isoforms:  O75643-1   O75643-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNRNP200: NX_O75643

Explore proteomics data for SNRNP200 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys358, Lys426, Lys469, Lys479, Lys557, Lys770, Lys1039, Lys1421, Lys1431, Lys1544,
                                 Lys1961
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SNRNP200 (O75643) (see all 6)
     GAIQVVV  TLAWGVN  QNPNYYNL  APTGSGKT 


    See SNRNP200 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_054733.2  
    ENSEMBL proteins: 
     ENSP00000317123   ENSP00000387870   ENSP00000326937  
    Reactome Protein details: O75643

    SNRNP200 Human Recombinant Protein Products:

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    SNRNP200 Assay Products:

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    Cloud-Clone Corp. CLIAs for SNRNP200


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR003593 AAA+_ATPase
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR004179 Sec63-dom
     IPR014756 Ig_E-set
     IPR014001 Helicase_ATP-bd

    Graphical View of Domain Structure for InterPro Entry O75643

    ProtoNet protein and cluster: O75643

    1 Blocks protein domain: IPB004179 Sec63 domain

    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
    Similarity: Belongs to the helicase family. SKI2 subfamily
    Similarity: Contains 2 helicase ATP-binding domains
    Similarity: Contains 2 helicase C-terminal domains
    Similarity: Contains 2 SEC63 domains


    SNRNP200 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: U520_HUMAN, O75643
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding ----
    GO:0004004ATP-dependent RNA helicase activity IDA--
    GO:0004386helicase activity ----
    GO:0005515protein binding IPI18951082
         
    SNRNP200 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for SNRNP200:
     Decreased homologous recombina  Decreased viability  Decreased viability of wild-ty  Synthetic lethal with Ras 
     Upregulation of Wnt/beta-caten 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Snrnp200):
     mortality/aging 

    SNRNP200 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNRNP200
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNRNP200
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    miRNA
    Products:
        
    miRTarBase miRNAs that target SNRNP200:
    hsa-mir-149-5p (MIRT045437), hsa-mir-30b-5p (MIRT046154), hsa-mir-193b-3p (MIRT041550), hsa-mir-548b-3p (MIRT040511), hsa-mir-99a-5p (MIRT048637), hsa-mir-151a-5p (MIRT038194), hsa-mir-425-5p (MIRT039338), hsa-mir-877-3p (MIRT037150)

    Block miRNA regulation of human, mouse, rat SNRNP200 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SNRNP200:
    hsa-miR-3673
    SwitchGear 3'UTR luciferase reporter plasmidSNRNP200 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SNRNP200
    Predesigned siRNA for gene silencing in human, mouse, rat SNRNP200

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SNRNP200 (NM_014014)
    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SNRNP200

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRNP200


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    U520_HUMAN, O75643: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IDA8670905
    GO:0005682U5 snRNP IDA9539711
    GO:0005730NOT nucleolus IDA--

    SNRNP200 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SNRNP200 About    
    See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA Splicing - Minor Pathway0.38
    2Gene Expression
    Gene Expression0.40
    3Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for SNRNP200
        mRNA Splicing - Major Pathway
    mRNA Splicing - Minor Pathway


    1 Kegg Pathway  (Kegg details for SNRNP200):
        Spliceosome


    SNRNP200 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SNRNP200
    Interactions:

        Search GeneGlobe Interaction Network for SNRNP200

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SNRNP200 (O756431, 2, 3 ENSP000003171234) via UniProtKB, MINT, STRING, and/or I2D (see all 1173)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF8Q6P2Q92, 3, ENSP000003043504MINT-7945693 MINT-7947479 MINT-8395092 I2D: score=6 STRING: ENSP00000304350
    SF3B1O755332, 3, ENSP000003353214MINT-7945693 MINT-7947479 MINT-6488791 I2D: score=2 STRING: ENSP00000335321
    PRPF6O949062, 3, ENSP000002660794MINT-7945693 MINT-7947479 I2D: score=6 STRING: ENSP00000266079
    SNRPD3P623182, 3, ENSP000002158294MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000215829
    PLRG1O436602, 3, ENSP000003031914MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000303191
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000354cis assembly of pre-catalytic spliceosome IC9539711
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006200ATP catabolic process IDA--
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--

    SNRNP200 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SNRNP200 (U520)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SNRNP200 gene: 
    NM_014014.4  

    Unigene Cluster for SNRNP200:

    Small nuclear ribonucleoprotein 200kDa (U5)
    Hs.246112  [show with all ESTs]
    Unigene Representative Sequence: NM_014014
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323853(uc002svt.3 uc010yuj.2 uc002svu.3) ENST00000497539
    ENST00000429650 ENST00000480835 ENST00000484372 ENST00000493271 ENST00000480242(uc002svv.1)
    ENST00000480615 ENST00000349783
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate SNRNP200:
    hsa-miR-3673
    SwitchGear 3'UTR luciferase reporter plasmidSNRNP200 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SNRNP200
    Predesigned siRNA for gene silencing in human, mouse, rat SNRNP200
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SNRNP200
      QuantiFast Probe-based Assays in human, mouse, rat SNRNP200

    Additional mRNA sequence: 

    AB018331.2 AF119874.1 AJ844618.1 AK023840.1 AK024391.1 AK026662.1 AK303465.1 AK303663.1 
    AL831994.1 AY572488.1 BC001417.2 BC007577.1 BC065924.1 BC112891.1 

    Selected DOTS entries (see all 27):

    DT.75154158  DT.75174721  DT.100819031  DT.85104902  DT.95363717  DT.95132827  DT.100729402  DT.97864779 
    DT.40195578  DT.100819021  DT.120954363  DT.100707955  DT.91897724  DT.100819018  DT.95079618  DT.100761567 
    DT.100819022  DT.100819024  DT.120903735  DT.120954418  DT.220126  DT.91776891  DT.91776903  DT.92414091 

    Selected AceView cDNA sequences (see all 848):

    CR614576 BM820950 BU628482 CK725022 BU160675 BE350726 BU535695 BE222850 
    BQ925527 AI424753 AU140885 BP351566 AA386249 BI094046 BQ709569 BM740139 
    AI828866 BU507961 AL041341 T30305 AW501311 NM_014014 AB018331 BM789607 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SNRNP200 (see all 10)    About this scheme

    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:                                                                                                                                                            

    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:                                                                                                                                                            

    ExUns: 40 ^ 41 ^ 42 ^ 43 ^ 44a · 44b ^ 45
    SP1:                                          
    SP2:  -     -     -     -     -               
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for SNRNP200

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SNRNP200 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCTGGTAG
    SNRNP200 Expression
    About this image


    SNRNP200 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Ovary (Reproductive System)
     
     Testis (Reproductive System)
     
     Uterus (Reproductive System)
     
     Larynx (Respiratory System)
    SNRNP200 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNRNP200 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.246112

    UniProtKB/Swiss-Prot: U520_HUMAN, O75643
    Tissue specificity: Widely expressed

        Custom PCR Arrays for SNRNP200
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SNRNP200 gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snrnp2001 , 5 small nuclear ribonucleoprotein 200 (U5)1, 5 90.89(n)1
    99.67(a)1
      2 (61.84 cM)5
    3206321  NM_177214.41  NP_796188.21 
     1272083865 
    chicken
    (Gallus gallus)
    Aves SNRNP2006
    small nuclear ribonucleoprotein 200kDa (U5)
    73(a)
    1 ↔ 1
    JH375561.1(16561-20659)
    lizard
    (Anolis carolinensis)
    Reptilia SNRNP2006
    small nuclear ribonucleoprotein 200kDa (U5)
    97(a)
    1 ↔ 1
    GL343858.1(94903-137078)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG348161.12   -- 81.45(n)    BG348161.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BI704412.12   -- 81.1(n)   322497  BI704412.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(3)72Ab1 lethal (3) 72Ab 68.53(n)
    74.91(a)
      39737  NM_140561.4  NP_648818.3 
    worm
    (Caenorhabditis elegans)
    Secernentea snrp-2001 snrp-200 60.58(n)
    61.65(a)
      174901  NM_064309.3  NP_496710.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BRR2(YER172C)4
    BRR21
    RNA-dependent ATPase RNA helicase (DEIH box); required more4
    BRR21
    47.55(n)1
    41.44(a)1
      5(536021-529530)4
    8569191, 4  NP_011099.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons emb15071 emb1507 59.55(n)
    58.48(a)
      838690  NM_001198121.1  NP_001185050.1 
    rice
    (Oryza sativa)
    Liliopsida AK059539.12   -- 73.84(n)    AK059539.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNRNP200 gene
    HELQ2  POLN2  ASCC32  POLQ2  
    2 SIMAP similar genes for SNRNP200 using alignment to 6 protein entries:     U520_HUMAN (see all proteins):
    ASCC3L1    ASCC3

    SNRNP200 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SNRNP200
    PGOHUM00000237479


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SNRNP200 (see all 789)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0655904
    Retinitis pigmentosa 33 (RP33)4--see VAR_0655902 Y C mis40--------
    VAR_0655874
    Retinitis pigmentosa 33 (RP33)4--see VAR_0655872 R C mis40--------
    VAR_0655884
    Retinitis pigmentosa 33 (RP33)4--see VAR_0655882 R H mis40--------
    VAR_0635404
    Retinitis pigmentosa 33 (RP33)4--see VAR_0635402 R L mis40--------
    VAR_0359434
    A colorectal cancer sample4--see VAR_0359432 F L mis40--------
    VAR_0635394
    Retinitis pigmentosa 33 (RP33)4--see VAR_0635392 S L mis40--------
    rs3721051251,2
    C--90901417(+) AAACC-/CT/TC 
            
    TGAGT
    1 -- ds50011CSA 2
    rs1117333561,2
    C--90907774(+) TTTTTT/-GAGAT 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1512905451,2
    --96597643(+) ATGGTA/GGCTCA 1 -- ds50010--------
    rs2000293261,2
    C--96597655(+) CCTGT-/ACAAATCC 1 -- cds10--------

    HapMap Linkage Disequilibrium report for SNRNP200 (96940074 - 96971307 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SNRNP200:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv650e201CNV Deletion23290073
    nsv508155CNV Loss20534489
    nsv874677CNV Loss21882294
    nsv874679CNV Gain21882294
    nsv834305CNV Gain17160897
    esv5003CNV Complex18987735

    Human Gene Mutation Database (HGMD): SNRNP200
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SNRNP200
    DNA2.0 Custom Variant and Variant Library Synthesis for SNRNP200

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601664   
    OMIM disorders: 610359  
    UniProtKB/Swiss-Prot: U520_HUMAN, O75643
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 15 diseases for SNRNP200:    
    About MalaCards
    snrnp200-related retinitis pigmentosa    retinitis pigmentosa 33    retinitis pigmentosa    retinitis
    leber congenital amaurosis    rhyns syndrome    pigmentary retinopathy    blindness
    breast and colorectal cancer    tuberculosis    hiv-1    multiple myeloma
    myeloma    colorectal cancer    malaria

    1 disease from the University of Copenhagen DISEASES database for SNRNP200:
    Retinitis pigmentosa

    SNRNP200 for disorders           About GeneDecksing


    Export disorders for SNRNP200 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SNRNP200 gene, integrated from 10 sources (see all 103):
    (articles sorted by number of sources associating them with SNRNP200)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro. (PubMed id 9539711)1, 2, 3, 9 Laggerbauer B.... Luehrmann R. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. (PubMed id 19878916)1, 2, 3 Zhao C.... Larsson C. (Am. J. Hum. Genet. 2009)
    3. 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. (PubMed id 9872452)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1998)
    4. 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. (PubMed id 8670905)1, 2, 3 Lauber J....Luehrmann R. (EMBO J. 1996)
    5. Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome. (PubMed id 23045696)1, 2 Santos K.F.... Wahl M.C. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. (PubMed id 21618346)1, 2 Benaglio P....Rivolta C. (Hum. Mutat. 2011)
    7. Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. (PubMed id 19710410)1, 2 Li N.... Hejtmancik J.F. (Invest. Ophthalmol. Vis. Sci. 2010)
    8. A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1. (PubMed id 16612614)1, 3 Zhao C....Larsson C. (Hum. Genet. 2006)
    9. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. (PubMed id 16723661)1, 2 Liu S.... Luehrmann R. (RNA 2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 23020 HGNC: 30859 AceView: ASCC3L1 Ensembl:ENSG00000144028 euGenes: HUgn23020
    ECgene: SNRNP200 Kegg: 23020 H-InvDB: SNRNP200

    (According to HUGE)
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    HUGE: KIAA0788

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SNRNP200 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SNRNP200 gene:
    Search GeneIP for patents involving SNRNP200

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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