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SNRPC Gene

protein-coding   GIFtS: 57
GCID: GC06P037287

Small Nuclear Ribonucleoprotein Polypeptide C

  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 Polypeptide C1 2     U1 Small Nuclear Ribonucleoprotein C2
U1C2 3     U1 Small Nuclear RNP Specific C2
U1 SnRNP C2 3     U1 SnRNP Protein C2
Yhc12     U1-C3

External Ids:    HGNC: 111571   Entrez Gene: 66312   Ensembl: ENSG000001245627   OMIM: 6035225   UniProtKB: P092343   

Export aliases for SNRPC gene to outside databases

Previous GC identifers: GC06P034727 GC06P034772 GC06P034833 GC06P034725 GC06P034447 GC06P034826 GC06P035771 GC06P036301


(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 SNRPC Gene:
This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP)
particle required for the formation of the spliceosome. The encoded protein participates in the processing of
nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by
patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene.
Alternative splicing results in a non-coding transcript variant.(provided by RefSeq, Oct 2009)

GeneCards Summary for SNRPC Gene:
SNRPC (small nuclear ribonucleoprotein polypeptide C) is a protein-coding gene. Diseases associated with SNRPC include connective tissue disease, and herpes simplex. GO annotations related to this gene include single-stranded RNA binding and protein homodimerization activity.

UniProtKB/Swiss-Prot: RU1C_HUMAN, P09234
Function: Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5'
splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5'
splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5'
splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates E complex formation
by stabilizing the base pairing of the 5' end of the U1 snRNA and the 5' splice-site region

Gene Wiki entry for SNRPC (Small nuclear ribonucleoprotein polypeptide C) 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_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNRPC gene promoter:
         PPAR-gamma1   CP2   FOXC1   POU2F1a   c-Myb   PPAR-gamma2   LCR-F1   Evi-1   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNRPC promoter sequence
   Search Chromatin IP Primers for SNRPC

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


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

Entrez Gene cytogenetic band: 6p21.31   Ensembl cytogenetic band:  6p21.31   HGNC cytogenetic band: 6p21

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P037287:  view genomic region     (about GC identifiers)

Start:
34,724,871 bp from pter      End:
34,741,634 bp from pter
Size:
16,764 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RU1C_HUMAN, P09234 (See protein sequence)
Recommended Name: U1 small nuclear ribonucleoprotein C  
Size: 159 amino acids; 17394 Da
Subunit: U1 snRNP is composed of the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that
assemble in an heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP, and at
least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. SNRPC/U1-C interacts with U1
snRNA and the 5' splice-site region of the pre-mRNA
Sequence caution: Sequence=CAI20351.1; Type=Erroneous gene model prediction;
2 PDB 3D structures from and Proteopedia for SNRPC:
2VRD (3D)        3CW1 (3D)    
Secondary accessions: Q5TAL3

Explore the universe of human proteins at neXtProt for SNRPC: NX_P09234

Explore proteomics data for SNRPC at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys3, Lys40, Lys52
  • Modification sites at PhosphoSitePlus

  • See SNRPC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003084.1  
    ENSEMBL proteins: 
     ENSP00000244520   ENSP00000363130   ENSP00000363129  

    SNRPC Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene MassSpec for SNRPC
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    Novus Biologicals SNRPC Proteins
    Novus Biologicals SNRPC Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for SNRPC
    Cloud-Clone Corp. Proteins for SNRPC

    SNRPC Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for SNRPC
    Cloud-Clone Corp. Antibodies for SNRPC
    ThermoFisher Antibodies for SNRPC
    LSBio Antibodies in human, mouse, rat for SNRPC

    SNRPC Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SNRPC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SNRPC
    Cloud-Clone Corp. CLIAs for SNRPC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR013085 Znf_U1-C
     IPR003604 Znf_U1
     IPR000690 Znf_C2H2_matrin
     IPR017340 U1_snRNP-C

    Graphical View of Domain Structure for InterPro Entry P09234

    ProtoNet protein and cluster: P09234

    1 Blocks protein domain: IPB003604 Zn-finger

    UniProtKB/Swiss-Prot: RU1C_HUMAN, P09234
    Similarity: Belongs to the U1 small nuclear ribonucleoprotein C family
    Similarity: Contains 1 matrin-type zinc finger


    SNRPC 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: RU1C_HUMAN, P09234
    Function: Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5'
    splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5'
    splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5'
    splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates E complex formation
    by stabilizing the base pairing of the 5' end of the U1 snRNA and the 5' splice-site region

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003727single-stranded RNA binding IDA8798632
    GO:0003729mRNA binding IEA--
    GO:0005515protein binding IPI12486009
    GO:0008270zinc ion binding IDA15312772
         
    SNRPC for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for SNRPC:
     Decreased viability  Decreased viability of wild-ty  Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNRPC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SNRPC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNRPC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SNRPC

    miRNA
    Products:
        
    miRTarBase miRNAs that target SNRPC:
    hsa-mir-296-3p (MIRT038366), hsa-let-7a-5p (MIRT052477), hsa-mir-16-5p (MIRT031425), hsa-mir-26b-5p (MIRT028793), hsa-let-7f-5p (MIRT051360), hsa-mir-98-5p (MIRT027399), hsa-mir-23b-3p (MIRT023480), hsa-mir-877-3p (MIRT037015)

    Block miRNA regulation of human, mouse, rat SNRPC using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SNRPC:
    hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c
    SwitchGear 3'UTR luciferase reporter plasmidSNRPC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SNRPC
    Predesigned siRNA for gene silencing in human, mouse, rat SNRPC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SNRPC

    Clone
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    OriGene clones in human, mouse for SNRPC (see all 6)
    OriGene ORF clones in mouse, rat for SNRPC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SNRPC (NM_003093)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPC

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SNRPC
    Browse ESI BIO Cell Lines and PureStem Progenitors for SNRPC 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPC


    (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
    RU1C_HUMAN, P09234: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000243commitment complex IEA--
    GO:0005634nucleus IDA--
    GO:0005685U1 snRNP IDA15312772
    GO:0005730NOT nucleolus IDA--
    GO:0015030Cajal body IDA10068039

    SNRPC 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 SNRPC About    
    See pathways by source

    SuperPathContained pathways About
    1Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for SNRPC):
        Spliceosome


    SNRPC for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for SNRPC

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

    Selected Interacting proteins for SNRPC (P092341, 2, 3 ENSP000002445204) via UniProtKB, MINT, STRING, and/or I2D (see all 118)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBM10P981751, 2, ENSP000003668294EBI-766589,EBI-721525 MINT-8332152 MINT-8333009 STRING: ENSP00000366829
    GIGYF2Q6Y7W62, 3, ENSP000003871704MINT-65890 I2D: score=3 STRING: ENSP00000387170
    SF3A2Q154282, 3, ENSP000002214944MINT-5205395 I2D: score=1 STRING: ENSP00000221494
    WDR83Q9BRX91, 2, ENSP000002427964EBI-766589,EBI-7705033 MINT-8332075 MINT-8333031 STRING: ENSP00000242796
    SNRNP70P086213, ENSP000002214484I2D: score=3 STRING: ENSP00000221448
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000387spliceosomal snRNP assembly IDA8972845
    GO:0000395mRNA 5'-splice site recognition IEA--
    GO:0000398mRNA splicing, via spliceosome IDA8972845

    SNRPC 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 SNRPC (RU1C)

    1 Novoseek inferred chemical compound relationship for SNRPC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 38.8 2 8532530 (1), 9588745 (1)



    SNRPC for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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 SNRPC gene: 
    NM_003093.2  

    Unigene Cluster for SNRPC:

    Small nuclear ribonucleoprotein polypeptide C
    Hs.1063  [show with all ESTs]
    Unigene Representative Sequence: BU603692
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000244520(uc003ojt.2 uc021yyv.1) ENST00000374018 ENST00000374017(uc021yyw.1)
    ENST00000474635
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SNRPC using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SNRPC:
    hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c
    SwitchGear 3'UTR luciferase reporter plasmidSNRPC 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SNRPC
    Predesigned siRNA for gene silencing in human, mouse, rat SNRPC
    Clone
    Products:
         
    OriGene clones in human, mouse for SNRPC (see all 6)
    OriGene ORF clones in mouse, rat for SNRPC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SNRPC (NM_003093)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPC
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SNRPC
    OriGene qSTAR qPCR primer pairs in human, mouse for SNRPC
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SNRPC
      QuantiTect SYBR Green Assays in human, mouse, rat SNRPC
      QuantiFast Probe-based Assays in human, mouse, rat SNRPC

    Additional mRNA sequence: 

    AK223098.1 AK311955.1 BC121082.1 BC121083.1 M18465.1 NR_029472.1 X12517.1 

    10 DOTS entries:

    DT.419516  DT.100678757  DT.91770583  DT.91770580  DT.95217217  DT.97782342  DT.100678761  DT.97859659 
    DT.80100501  DT.91923145 

    Selected AceView cDNA sequences (see all 520):

    BU174697 AA381953 BQ268969 BM463622 AI742714 CA440703 AA314789 AW516571 
    AI084611 BU194250 BG474126 CB989658 BM794885 BM793932 AI126177 BU949465 
    CB159857 BU176879 CF129463 CD109745 AA187230 CA407298 AA381595 AI670099 

    GeneLoc Exon Structure


    (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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    SNRPC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTGTGAT
    SNRPC Expression
    About this image


    SNRPC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Thyroid (Endocrine System)
     
     Testis (Reproductive System)
     
     Placenta (Extraembryonic Tissues)
    SNRPC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNRPC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1063
        Custom PCR Arrays for SNRPC
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SNRPC
    OriGene qSTAR qPCR primer pairs in human, mouse for SNRPC
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SNRPC
    QuantiTect SYBR Green Assays in human, mouse, rat SNRPC
    QuantiFast Probe-based Assays in human, mouse, rat SNRPC
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPC

    (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 SNRPC gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snrpc5 U1 small nuclear ribonucleoprotein C   --   17 (14.59 cM) 27839974 
    chicken
    (Gallus gallus)
    Aves SNRPC6
    U1 small nuclear ribonucleoprotein C
    98(a)
    1 ↔ 1
    26(4248039-4252009)
    lizard
    (Anolis carolinensis)
    Reptilia SNRPC6
    small nuclear ribonucleoprotein polypeptide C
    84(a)
    1 ↔ 1
    4(121155843-121161266)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.11582 X.laevis mRNA for snRNP C protein 80.65(n)    X63892.1 
    zebrafish
    (Danio rerio)
    Actinopterygii snrpc2 small nuclear ribonucleoprotein polypeptide C 77.92(n)   192330  AY099526.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta snRNP-U1-C6
    small ribonucleoprotein particle U1 subunit C
    59(a)
    1 ↔ 1
    3R(14808686-14809370)
    worm
    (Caenorhabditis elegans)
    Secernentea F08B4.76
    Protein F08B4.7 (F08B4.7) mRNA, complete cds
    53(a)
    1 ↔ 1
    IV(8686751-8687810) WBGene00017238
    rice
    (Oryza sativa)
    Liliopsida Os.56302 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.55(n)    AK060957.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNRPC gene

    SNRPC for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for SNRPC
    PGOHUM00000247291 PGOHUM00000234972 PGOHUM00000237820 PGOHUM00000235661 PGOHUM00000236008


    (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 SNRPC (see all 401)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs94698591,2
    C,F,H--34722902(+) TATAGC/ACTATC 2 -- us2k122Minor allele frequency- A:0.49NS EA NA WA CSA 2337
    rs614079261,2
    C,F--34723104(+) AAAAAT/ATAAAA 2 -- us2k12Minor allele frequency- A:0.11WA EA 238
    rs728922381,2
    C--34723136(+) CAGGTG/ACCTGT 2 -- us2k14Minor allele frequency- A:0.12NA WA EA 360
    rs1397124201,2
    --34723536(+) TATGAC/GATAGT 2 -- us2k10--------
    rs69414531,2
    C,F,A,H--34723895(+) cgggcG/Acggtg 2 -- us2k1 tfbs316Minor allele frequency- A:0.15NS EA NA 2222
    rs1452102161,2
    --34724023(+) AAAATC/TAGCCG 2 -- us2k10--------
    rs734157791,2
    C--34724095(+) GAACCC/AGGGAG 2 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1446089091,2
    C--34724194(+) AAAAC-/AAAAAT
            
    AAATT
    2 -- us2k10--------
    rs1162923541,2
    F--34724354(+) GCAGTG/CGTGCG 2 -- us2k11Minor allele frequency- C:0.06WA 118
    rs1914819981,2
    --34724663(+) CACCAC/GGTTGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SNRPC (34724871 - 34741634 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SNRPC:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv885795CNV Loss21882294
    nsv462905CNV Gain19166990
    dgv6831n71CNV Gain21882294
    nsv885796CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603522    OMIM disorders: --

    4 diseases for SNRPC:    
    About MalaCards
    connective tissue disease    herpes simplex    hiv-1    neuronitis


    SNRPC for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SNRPC gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmune diseases 21.7 1 8960101 (1)


    Export disorders for SNRPC 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 SNRPC gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with SNRPC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human U1 snRNP-specific C protein: complete cDNA and protein sequence and identification of a multigene family in mammals. (PubMed id 2971157)1, 2, 3 Sillekens P.T.G.... van Venrooij W.J. (Nucleic Acids Res. 1988)
    2. The structure and biochemical properties of the human spliceosomal protein U1C. (PubMed id 15312772)1, 2, 9 Muto Y.... Nagai K. (J. Mol. Biol. 2004)
    3. Homodimerization of the human U1 snRNP-specific protein C. (PubMed id 8532530)1, 3, 9 Gunnewiek J.M....Nelissen R.L. (Nucleic Acids Res. 1995)
    4. Zinc finger-like structure in U1-specific protein C is essential for specific binding to U1 snRNP. (PubMed id 1826349)1, 2, 9 Nelissen R.L.H....van Venrooij W.J. (Nucleic Acids Res. 1991)
    5. Protein stoichiometry of a multiprotein complex, the human spliceosomal U1 small nuclear ribonucleoprotein: absolute quantification using isotope-coded tags and mass spectrometry. (PubMed id 15525645)1, 2, 9 Hochleitner E.O.... Lottspeich F. (J. Biol. Chem. 2005)
    6. Involvement of U1 small nuclear ribonucleoproteins (snRNP) in 5' splice site-U1 snRNP interaction. (PubMed id 8798632)1, 2, 9 Rossi F.... Cathala G. (J. Biol. Chem. 1996)
    7. Isolation and characterization of a complementary DNA expressing human U1 small nuclear ribonucleoprotein C polypeptide. (PubMed id 2961811)1, 2 Yamamoto K....Miyamoto T. (J. Immunol. 1988)
    8. Cloning and characterization of two processed pseudogenes and the cDNA for the murine U1 snRNP-specific protein C. (PubMed id 9031639)1, 9 Nelissen R.L....Van Venrooij W.J. (Gene 1997)
    9. Human monoclonal autoantibody fragments from combinatorial antibody libraries directed to the U1snRNP associated U1C protein; epitope mapping, immunolocalization and V-gene usage. (PubMed id 10068039)1, 9 Hoet R.M....van Venrooij W.J. (Mol. Immunol. 1998)
    10. At least three linear regions but not the zinc-finger domain of U1C protein are exposed at the surface of the protein in solution and on the human spliceosomal U1 snRNP particle. (PubMed id 9826776)1, 9 Dumortier H....Muller S. (Nucleic Acids Res. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 6631 HGNC: 11157 AceView: SNRPC Ensembl:ENSG00000124562 euGenes: HUgn6631
    ECgene: SNRPC Kegg: 6631 H-InvDB: SNRPC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SNRPC Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SNRPC gene:
    Search GeneIP for patents involving SNRPC

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



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