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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SNRNP70 Gene

protein-coding   GIFtS: 60
GCID: GC19P049588

small nuclear ribonucleoprotein 70kDa (U1)

(Previous name: small nuclear ribonucleoprotein 70kDa (RNP antigen) )
(Previous symbols: RNPU1Z, RPU1, SNRP70)
 Explore 19 diseases affiliated with
SNRNP70 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SNRNP70    

Aliases
for SNRNP70 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Small Nuclear Ribonucleoprotein 70kDa (U1)1 2     U1RNP2 5
RNPU1Z1 2 3 5     Small Nuclear Ribonucleoprotein 70kDa (RNP Antigen)1
RPU11 2 3 5     U170K2
SNRP701 2 3 5     U1AP2
U1-70K1 2 3     U1 Small Nuclear Ribonucleoprotein 70 KDa2
Snp11 2     U1AP13
U1 SnRNP 70 KDa2 3     SnRNP701

External Ids:    HGNC: 111501   Entrez Gene: 66252   Ensembl: ENSG000001048527   OMIM: 1807405   UniProtKB: P086213   

Export aliases for SNRNP70 gene to outside databases

Previous GC identifers: GC19P054285 GC19P054287 GC19P045964


Summaries
for SNRNP70 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: RU17_HUMAN, P08621
Function: Mediates the splicing of pre-mRNA by binding to the loop I region of U1-snRNA. The truncated isoforms cannot
bind U1-snRNA

Gene Wiki entry for SNRNP70 (SnRNP70)


Genomic Views
for SNRNP70 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNRNP70 gene promoter:
         NF-YA   SREBP-1c   SREBP-1b   NF-YB   CBF-B   CBF-A   SREBP-1a   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SNRNP70 promoter sequence
   Search SABiosciences Chromatin IP Primers for SNRNP70

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNRNP70


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

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

SNRNP70 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNRNP70 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P049588:  view genomic region     (about GC identifiers)

Start:
 49,588,465 bp from pter      End:
 49,611,870 bp from pter
Size:
 23,406 bases      Orientation:
 plus strand

Proteins
for SNRNP70 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: RU17_HUMAN, P08621 (See protein sequence)
Recommended Name: U1 small nuclear ribonucleoprotein 70 kDa  
Size: 437 amino acids; 51557 Da
Subunit: Interacts with SCNM1 (By similarity). Found in a pre-mRNA splicing complex with SFRS4, SFRS5, SNRNP70, SNRPA1,
SRRM1 and SRRM2. Found in a pre-mRNA exonic splicing enhancer (ESE) complex with SNRNP70, SNRPA1, SRRM1 and
TRA2B/SFRS10. Interacts with dephosphorylated SFRS13A and SFPQ. Interacts with NUDT21/CPSF5, CPSF6, SCAF11, and ZRANB2
Subcellular location: Nucleus. Nucleus speckle (By similarity). Nucleus, nucleoplasm (By similarity). Note=Colocalizes
with SCNM1 and LUC7L2 in nuclear speckles (By similarity)
Miscellaneous: Major ribonucleoprotein antigen recognized by the sera from patients with autoimmune diseases, such as
systemic lupus erythematosus
Sequence caution: Sequence=CAA28352.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAA29964.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA29966.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
4 PDB 3D structures from and Proteopedia for SNRNP70:
2L5I (3D)        2L5J (3D)        3CW1 (3D)        3PGW (3D)    
Secondary accessions: B3KUA3 P78493 P78494 Q15364 Q15686 Q15687 Q15689 Q99377 Q9UE45 Q9UE46 Q9UE47
Q9UE48 Q9UFQ6
Alternative splicing: 4 isoforms:  P08621-1   P08621-2   P08621-3   P08621-4   

Explore the universe of human proteins at neXtProt for SNRNP70: NX_P08621

Post-translational modifications:

  • The N-terminus is blocked1
  • Extensively phosphorylated on serine residues in the C-terminal region1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P08621

    • SNRNP70 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003080.2  
    ENSEMBL proteins: 
     ENSP00000221448   ENSP00000385077   ENSP00000444479  
    Reactome Protein details: P08621
    Human Recombinant Protein Products: 
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    Novus Biologicals SNRNP70 Protein
    Novus Biologicals SNRNP70 Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SNRNP70
    Uscn Proteins for SNRNP70

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18559850
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IDA9731529
    GO:0016607nuclear speck IEA--


    SNRNP70 for ontologies           About GeneDecksing



    SNRNP70 Antibody Products: 
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    Uscn ELISAs and CLIAs for SNRNP70

    Protein Domains /
    Families
    for SNRNP70 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SNRNP70 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR022023 U1snRNP70_N
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry P08621

    ProtoNet protein and cluster: P08621

    1 Blocks protein family: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: RU17_HUMAN, P08621
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    Function
    for SNRNP70 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: RU17_HUMAN, P08621
    Function: Mediates the splicing of pre-mRNA by binding to the loop I region of U1-snRNA. The truncated isoforms cannot
    bind U1-snRNA

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SNRNP70:
    hsa-miR-605 hsa-miR-590-3p hsa-miR-421
    SwitchGear 3'UTR luciferase reporter plasmid: SNRNP70 3' UTR sequence
    Inhib. RNA
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    Browse OriGene siRNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SNRNP70

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRNP70 

    Cell Line
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    Search LifeMap BioReagents cell lines for SNRNP70

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRNP70

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003723RNA binding IMP2467746
    GO:0005515protein binding IPI--


    SNRNP70 for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for SNRNP70:
     Decreased Salmonella enterica   Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 
     Increased gamma-H2AX phosphory 


    Pathways & Interactions
    for SNRNP70 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mRNA Splicing - Major Pathway
    		mRNA Splicing1.00
    		mRNA Processing0.82
    		mRNA Splicing - Major Pathway1.00
    		mRNA processing0.48
    		Processing of Capped Intron-Containing Pre-mRNA0.96
    		Spliceosome0.31
    2Generic Transcription Pathway
    		Gene Expression0.46

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for SNRNP70 
        mRNA processing

    5        Reactome Pathways for SNRNP70
        mRNA Splicing - Major Pathway
    mRNA Splicing
    Gene Expression
    mRNA Processing
    Processing of Capped Intron-Containing Pre-mRNA


    1         Kegg Pathway  (Kegg details for SNRNP70):
        Spliceosome


    SNRNP70 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SNRNP70

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

    5/867 Interacting proteins for SNRNP70 (P086211, 2, 3 ENSP000002214484) via UniProtKB, MINT, STRING, and/or I2D (see all 867)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3, ENSP000003700834MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000370083
    SMN2Q166372, 3, ENSP000003701194MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000370119
    SMAD9O151982, 3, ENSP000003691544MINT-62151 MINT-61940 I2D: score=4 STRING: ENSP00000369154
    DDX17Q928412, 3, ENSP000003800334MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000380033
    CUL1Q136162, 3, ENSP000003268044MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000326804
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006397mRNA processing TAS3028775
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--
    GO:0043484regulation of RNA splicing IMP2467746


    SNRNP70 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SNRNP70 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SNRNP70 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SNRNP70
    1 Novoseek chemical compound relationship for SNRNP70 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 32.5 4 9085842 (1), 18202700 (1), 18414657 (1), 8332490 (1)

    Search CenterWatch for drugs/clinical trials and news about SNRNP70 / RU17 

    Transcripts
    for SNRNP70 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SNRNP70 gene (2 alternative transcripts): 
    NM_001009820.1  NM_003089.4  

    Unigene Cluster for SNRNP70:

    Small nuclear ribonucleoprotein 70kDa (U1)
    Hs.467097  [show with all ESTs]
    Unigene Representative Sequence: AL832819
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221448(uc002pmh.2 uc002pmk.3) ENST00000401730(uc002pmm.3 uc021uxh.1)
    ENST00000544278

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SNRNP70:
    hsa-miR-605 hsa-miR-590-3p hsa-miR-421
    SwitchGear 3'UTR luciferase reporter plasmid: SNRNP70 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SNRNP70 (see all 4)
    OriGene shRNA RFP: SNRNP70
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SNRNP70
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNRNP70
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNRNP70

    Additional cDNA sequence: 

    AK027127.1 AK056808.1 AK096783.1 AK293120.1 AL117399.1 AL117507.1 AL832819.1 BC000342.2 
    BC001315.1 M22636.1 X06811.1 X06812.1 X06813.1 X06814.1 X06815.1 X06816.1 
    X06817.1 X06818.1 X06819.1 X07401.1 X07402.1 X07403.1 X84841.1 

    24/34 DOTS entries (see all 34):

    DT.97855508  DT.40245034  DT.97855505  DT.100888463  DT.100806143  DT.100888451  DT.102836261  DT.100888442 
    DT.95073530  DT.100888469  DT.100031168  DT.100888429  DT.92461032  DT.121435144  DT.100888461  DT.100888459 
    DT.100888452  DT.75116992  DT.121434960  DT.40273532  DT.100031171  DT.100644846  DT.121435118  DT.121435119 

    24/48 AceView cDNA sequences (see all 48):

    X84841 X06811 AK056808 CR613069 CR623618 CR624326 CR592978 CR599254 
    CR611785 BC001315 X07402 CR617222 CR616069 CR595497 M22636 AL832819 
    CR608261 NM_003089 CR596341 X06816 CR600727 CR593135 CR612805 CR624970 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for SNRNP70 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ·
    SP1:                          -                             -                             -                 -                 -     -           -               
    SP2:                          -                             -                             -     -     -     -                 -     -                           
    SP3:                          -                             -                             -           -     -                 -     -                           
    SP4:                          -                             -                             -     -     -     -                 -     -           -               
    SP5:                          -     -     -                 -                                                                                                   

    ExUns: 12d
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for SNRNP70

    Expression
    for SNRNP70 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SNRNP70 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGTCTGAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SNRNP70 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SNRNP70 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNRNP70

    SOURCE GeneReport for Unigene cluster: Hs.467097
        SABiosciences Custom PCR Arrays for SNRNP70
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRNP70

    Orthologs
    for SNRNP70 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SNRNP70 gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Snrnp701 , 5 small nuclear ribonucleoprotein 70 (U1)1, 5 86.9(n)1
    98.16(a)1    		   7 (29.28 cM)5
    206371  NM_009224.41  NP_033250.31 
     453764545 
    lizard
    (Anolis carolinensis)    		 Reptilia SNRNP706
    		 --
    		 78(a)
    		 1 ↔ 1
    		 6(80019094-80032470)
    African clawed frog
    (Xenopus laevis)    		 Amphibia LOC3979462 U1 70K 76.9(n)    X12430.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufc20b042 wufc20b04 74.19(n)   324143  57060615 
    fruit fly
    (Drosophila melanogaster)    		 Insecta snRNP-U1-70K1 small ribonucleoprotein particle U1 subunit 70K 58.41(n)
    62.24(a)    		   33982  NM_057857.4  NP_477205.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea rnp-71 Protein RNP-7 52.16(n)
    49.69(a)    		   176002  NM_066164.6  NP_498565.2 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons U1-70K1 U1 small nuclear ribonucleoprotein-70K 49.95(n)
    47.91(a)    		   824230  NM_114927.3  NP_190636.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.46692 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 70.83(n)    AK059504.1 


    ENSEMBL Gene Tree for SNRNP70 (if available)
    TreeFam Gene Tree for SNRNP70 (if available) 

    Paralogs
    for SNRNP70 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNRNP70 gene
    SNRNP352  
    1 SIMAP similar gene for SNRNP70 using alignment to 3 protein entries:     RU17_HUMAN (see all proteins):
    DKFZp434N041

    SNRNP70 for paralogs           About GeneDecksing



    Genomic Variants
    for SNRNP70 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/456 NCBI SNPs in SNRNP70 are shown (see all 456)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1874510231,2
    		--49586479(+) TGAGAA/TAGAGT 1 -- us2k10--------
    rs116670691,2
    		C,F,A,H,--49586556(+) TCAAGC/TGATTC 1 -- us2k1 tfbs35Minor allele frequency- T:0.50NA WA 10
    rs1912826181,2
    		--49586557(+) CAAGCA/GATTCT 1 -- us2k10--------
    rs116670721,2
    		C,H,--49586561(+) CGATTA/CTCCTG 1 -- us2k12Minor allele frequency- C:0.25NA WA 4
    rs1831541671,2
    		--49586651(+) GTTTCA/GCCATG 1 -- us2k10--------
    rs1462275311,2
    		--49586748(+) ACACCC/TGGCCT 1 -- us2k10--------
    rs1878265631,2
    		--49586812(+) CAGTCA/GTGCAA 1 -- us2k10--------
    rs1390867301,2
    		--49586884(+) GGTGCA/GTGCCA 1 -- us2k10--------
    rs1926490461,2
    		--49586986(+) CCCACC/TTCGGC 1 -- us2k10--------
    rs129737701,2
    		C,F--49587046(+) tctttC/Tttttt 1 -- us2k1 trp32Minor allele frequency- T:0.50NA 4

    HapMap Linkage Disequilibrium report for SNRNP70 (49588465 - 49611870 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SNRNP70
         2 CNVs: 5109 32261

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    Disorders / Diseases
    for SNRNP70 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SNRNP70 for disorders           About GeneDecksing

    OMIM gene information: 180740    OMIM disorders: --

    19 diseases for SNRNP70:    About MalaCards
    mixed connective tissue disease    connective tissue disease    facial hemiatrophy    dna topoisomerase i
    heart block    congenital heart block    lupus erythematosus    cutaneous lupus erythematosus
    systemic lupus erythematosus    cytomegalovirus infection    systemic scleroderma    herpes simplex
    polymyositis    myositis    scleroderma    schizophrenia
    thyroiditis    malaria    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for SNRNP70:
    Mixed connective tissue disease     Systemic lupus erythematosus     Systemic scleroderma     Myositis

    5 Novoseek disease relationships for SNRNP70 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mixed connective tissue disease 60.4 3 15743477 (2), 11069087 (1)
    lupus erythematosus systemic 52.3 4 16263701 (1), 19035498 (1), 11069087 (1), 18202700 (1)
    autoimmune response 46.4 1 11069087 (1)
    autoimmune diseases 12.3 1 18202700 (1)
    tumors 0 1 10022522 (1)


    Export disorders for SNRNP70 gene to outside databases

    Publications
    for SNRNP70 gene

    (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)
    About This Section

    PubMed articles for SNRNP70 gene, integrated from 9 sources (see all 139):
    (articles sorted by number of sources associating them with SNRNP70)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human U1-70K ribonucleoprotein antigen gene: organization, nucleotide sequence, and mapping to locus 19q13.3. (PubMed id 2147422)1, 2, 9 Spritz R.A.... Mohrenweiser H.W. (1990)
    2. Association of polyadenylation cleavage factor I with U1 snRNP. (PubMed id 14561889)1, 2, 9 Awasthi S. and Alwine J.C. (2003)
    3. Identification of an snRNP-associated kinase activity that phosphorylates arginine/serine rich domains typical of splicing factors. (PubMed id 8332490)1, 2, 9 Woppmann A....Luehrmann R. (1993)
    4. Nuclear relocalization of the pre-mRNA splicing factor PSF during apoptosis involves hyperphosphorylation, masking of antigenic epitopes, and changes in protein interactions. (PubMed id 11514619)1, 2, 9 Shav-Tal Y.... Zipori D. (2001)
    5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)
    9. Dephosphorylated SRp38 acts as a splicing repressor in response to heat shock. (PubMed id 14765198)1, 2 Shin C.... Manley J.L. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for SNRNP70 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SNRNP70 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6625 HGNC: 11150 AceView: SNRP70 Ensembl:ENSG00000104852 euGenes: HUgn6625
    ECgene: SNRNP70 Kegg: 6625 H-InvDB: SNRNP70

    Other Databases showing SNRNP70 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SNRNP70 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SNRNP70 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SNRNP70 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SNRNP70 gene:
    Search GeneIP for patents involving SNRNP70

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



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    About This Section

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