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SNRPA Gene

protein-coding   GIFtS: 61
GCID: GC19P041256

Small Nuclear Ribonucleoprotein Polypeptide A

  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 A1 2     Mud12
U1-A2 3     U1 Small Nuclear Ribonucleoprotein A2
U1A2 3     U1 Small Nuclear RNP-Specific A2
U1 SnRNP A2 3     U1 SnRNP-Specific Protein A2

External Ids:    HGNC: 111511   Entrez Gene: 66262   Ensembl: ENSG000000773127   OMIM: 1822855   UniProtKB: P090123   

Export aliases for SNRPA gene to outside databases

Previous GC identifers: GC19P041896 GC19P041648 GC19P045932 GC19P045948 GC19P037690


(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 SNRPA Gene:
The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which
binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates
itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling
of splicing and polyadenylation. (provided by RefSeq, Oct 2010)

GeneCards Summary for SNRPA Gene:
SNRPA (small nuclear ribonucleoprotein polypeptide A) is a protein-coding gene. Diseases associated with SNRPA include mixed connective tissue disease, and connective tissue disease. GO annotations related to this gene include RNA binding and snRNA binding. An important paralog of this gene is SNRPB2.

UniProtKB/Swiss-Prot: SNRPA_HUMAN, P09012
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. U1 snRNP is the first snRNP to interact with
pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. SNRPA
binds stem loop II of U1 snRNA. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and
polyadenylation process. May bind preferentially to the 5'-UGCAC-3' motif on RNAs

Gene Wiki entry for SNRPA (Small nuclear ribonucleoprotein polypeptide A) 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_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNRPA gene promoter:
         SRF   STAT1   SRF (504 AA)   ATF-2   STAT1beta   STAT1alpha   Max   c-Jun   Ik-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNRPA promoter sequence
   Search Chromatin IP Primers for SNRPA

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


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P041256:  view genomic region     (about GC identifiers)

Start:
41,256,542 bp from pter      End:
41,271,297 bp from pter
Size:
14,756 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: SNRPA_HUMAN, P09012 (See protein sequence)
Recommended Name: U1 small nuclear ribonucleoprotein A  
Size: 282 amino acids; 31280 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. Interacts with SFPQ; component
of a snRNP-free complex with SFPQ
Selected PDB 3D structures from and Proteopedia for SNRPA (see all 59):
1AUD (3D)        1CX0 (3D)        1DRZ (3D)        1DZ5 (3D)        1FHT (3D)        1M5K (3D)    

Explore the universe of human proteins at neXtProt for SNRPA: NX_P09012

Explore proteomics data for SNRPA at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys20, Lys60, Lys88, Lys96, Lys98, Lys268, Lys276
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_004587.1  
    ENSEMBL proteins: 
     ENSP00000470534   ENSP00000243563   ENSP00000469224   ENSP00000472449   ENSP00000472258  
     ENSP00000472355   ENSP00000471230  
    Reactome Protein details: P09012

    SNRPA Human Recombinant Protein Products:

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    Novus Biologicals SNRPA Protein
    Novus Biologicals SNRPA Lysates
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    SNRPA Assay Products:

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    Cloud-Clone Corp. CLIAs for SNRPA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR024888 U1_snRNP_A/U2_snRNP_B''
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry P09012

    ProtoNet protein and cluster: P09012

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

    UniProtKB/Swiss-Prot: SNRPA_HUMAN, P09012
    Similarity: Belongs to the RRM U1 A/B'' family
    Similarity: Contains 2 RRM (RNA recognition motif) domains


    SNRPA 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: SNRPA_HUMAN, P09012
    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. U1 snRNP is the first snRNP to interact with
    pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. SNRPA
    binds stem loop II of U1 snRNA. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and
    polyadenylation process. May bind preferentially to the 5'-UGCAC-3' motif on RNAs

         Genatlas biochemistry entry for SNRPA:
    samll ribonucleoprotein U1,A polypeptide

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IDA19561594
    GO:0005515protein binding IPI10688667
    GO:0017069snRNA binding IEA--
         
    SNRPA for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNRPA
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNRPA
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    miRNA
    Products:
        
    miRTarBase miRNAs that target SNRPA:
    hsa-mir-320c (MIRT036163), hsa-let-7b-5p (MIRT052317), hsa-mir-1307-3p (MIRT035815)

    Block miRNA regulation of human, mouse, rat SNRPA using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate SNRPA:
    hsa-miR-644 hsa-miR-1231 hsa-miR-654-3p hsa-miR-106a* hsa-miR-764
    SwitchGear 3'UTR luciferase reporter plasmidSNRPA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SNRPA
    Predesigned siRNA for gene silencing in human, mouse, rat SNRPA

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for SNRPA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SNRPA (NM_004596)
    Sino Biological Human cDNA Clone for SNRPA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPA

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


    (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
    SNRPA_HUMAN, P09012: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IDA9731529
    GO:0005685U1 snRNP IDA--
    GO:0005730NOT nucleolus IDA--

    SNRPA 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 SNRPA 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 processing0.44
    2Gene Expression
    Gene Expression0.40
    3Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SNRPA
        mRNA processing


    1 Reactome Pathway for SNRPA
        mRNA Splicing - Major Pathway


    1 Kegg Pathway  (Kegg details for SNRPA):
        Spliceosome


    SNRPA for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for SNRPA

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

    Selected Interacting proteins for SNRPA (P090121, 2, 3 ENSP000002435634) via UniProtKB, MINT, STRING, and/or I2D (see all 741)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN2Q166372, 3, ENSP000003701194MINT-14308 MINT-7947479 I2D: score=1 STRING: ENSP00000370119
    PTBP1P265992, 3, ENSP000003494284MINT-8332987 MINT-7947479 I2D: score=3 STRING: ENSP00000349428
    SF3A2Q154282, 3, ENSP000002214944MINT-5205386 MINT-7947479 I2D: score=1 STRING: ENSP00000221494
    SMN1Q166372, 3MINT-14308 MINT-7947479 I2D: score=1 
    C19orf43Q9BQ612, 3, ENSP000002427844MINT-8332954 I2D: score=4 STRING: ENSP00000242784
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--

    SNRPA 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 SNRPA

    1 DrugBank Compound for SNRPA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Malonic acidMalonate (see all 2)141-82-2target----

    7 Novoseek inferred chemical compound relationships for SNRPA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 41.5 21 12670951 (4), 16943419 (2), 10742179 (2), 11839494 (1) (see all 8)
    hydrogen 27.4 8 11788718 (2), 12466552 (2), 16407334 (1), 16738410 (1) (see all 6)
    adenine 19.3 6 12466552 (3), 15491147 (1), 16278830 (1)
    guanidine hydrochloride 17.1 1 15476390 (1)
    cysteine 0.481 1 10852733 (1)
    atp 0 2 10648562 (1)
    iron 0 4 1584791 (1)



    SNRPA 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 SNRPA gene: 
    NM_004596.4  

    Unigene Cluster for SNRPA:

    Small nuclear ribonucleoprotein polypeptide A
    Hs.466775  [show with all ESTs]
    Unigene Representative Sequence: NM_004596
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000601545 ENST00000243563(uc002ooz.3) ENST00000601253 ENST00000597353
    ENST00000599362 ENST00000599570 ENST00000601393 ENST00000598923 ENST00000600456
    ENST00000598452 ENST00000596860
    miRNA
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    Block miRNA regulation of human, mouse, rat SNRPA using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate SNRPA:
    hsa-miR-644 hsa-miR-1231 hsa-miR-654-3p hsa-miR-106a* hsa-miR-764
    SwitchGear 3'UTR luciferase reporter plasmidSNRPA 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SNRPA
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    OriGene ORF clones in mouse, rat for SNRPA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SNRPA (NM_004596)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPA
    Primer
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    OriGene qPCR primer pairs and template standards for SNRPA
    OriGene qSTAR qPCR primer pairs in human, mouse for SNRPA
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SNRPA
      QuantiTect SYBR Green Assays in human, mouse, rat SNRPA
      QuantiFast Probe-based Assays in human, mouse, rat SNRPA

    Additional mRNA sequence: 

    AK293140.1 AK313182.1 BC000405.2 BC008290.1 X06347.1 

    17 DOTS entries:

    DT.97854609  DT.100827444  DT.80102050  DT.100827448  DT.121436155  DT.100647055  DT.100827455  DT.305096 
    DT.100750095  DT.121436170  DT.100827445  DT.100827454  DT.121436208  DT.100719490  DT.100827446  DT.100827447 
    DT.95206669 

    Selected AceView cDNA sequences (see all 488):

    CA313815 CR620163 BC000405 CR622302 CR597345 CF128304 AI870262 BM478204 
    BI907674 BQ447022 AW848338 CR609533 BQ671697 BQ689851 BX417996 BQ182227 
    BQ650463 BI768440 BC008290 AI949381 BQ068261 CR611939 CA306578 CR606390 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for SNRPA

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

    SNRPA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNRPA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.466775
        Custom PCR Arrays for SNRPA
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SNRPA
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    QuantiFast Probe-based Assays in human, mouse, rat SNRPA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPA

    (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 SNRPA gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snrpa5 small nuclear ribonucleoprotein polypeptide A   --   7 (15.84 cM) 27187005 
    lizard
    (Anolis carolinensis)
    Reptilia SNRPA6
    small nuclear ribonucleoprotein polypeptide A
    90(a)
    1 ↔ 1
    LGf(2806296-2810905)
    African clawed frog
    (Xenopus laevis)
    Amphibia snf-prov2 sans fille 77.7(n)    X57953.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC064308.12   -- 80.27(n)   324121  BC064308.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta snf1 sans fille 75.08(n)
    77.78(a)
      31442  NM_078490.3  NP_511045.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rnp-21 rnp-2 60.03(n)
    56.22(a)
      177181  NM_068103.3  NP_500504.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSL1(YIR009W)4 U2B component of U2 snRNP, involved in splicing, binds more   --   9(374525-374860) 854826  NP_012274.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons U1A1 U1A 54.99(n)
    54.7(a)
      819371  NM_130326.2  NP_182280.1 
    rice
    (Oryza sativa)
    Liliopsida Os.97662 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.96(n)    AK102716.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNRPA gene
    SNRPB22  
    2 SIMAP similar genes for SNRPA using alignment to 7 protein entries:     SNRPA_HUMAN (see all proteins):
    SNRPB2    RBMX

    SNRPA for paralogs           About GeneDecksing



    (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 SNRPA (see all 301)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1853428231,2
    --41257861(+) GGTCTA/GTGTGC 1 -- int10--------
    rs667432821,2
    C--41257952(+) AAGAAA/GCTGGG 1 -- int13Minor allele frequency- G:0.12WA NA 240
    rs1472987521,2
    --41258008(+) GAGGCC/TGAGGC 1 -- int10--------
    rs1399281031,2
    C--41258090(+) ATACAA/GAATTA 1 -- int10--------
    rs1897604541,2
    --41258215(+) ACAGCC/TTGGGC 1 -- int10--------
    rs1806876521,2
    --41258223(+) GGCAAC/GAAGAG 1 -- int10--------
    rs1859435221,2
    --41258238(+) ACTCCC/GTCTCA 1 -- int10--------
    rs104084521,2
    C,F,H--41258355(+) TAGGAA/GCCCAA 1 -- int111Minor allele frequency- G:0.05NS EA NA WA 1312
    rs1120469261,2
    F--41258381(+) GGTGGT/CTCAGG 1 -- int12Minor allele frequency- C:0.04CSA WA 120
    rs597057651,2
    C--41258485(+) AAAAA-/AAGGCTG 1 -- int11Minor allele frequency- AA:0.00NA 2

    HapMap Linkage Disequilibrium report for SNRPA (41256542 - 41271297 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SNRPA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833832CNV Loss17160897
    esv21537CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SNRPA
    DNA2.0 Custom Variant and Variant Library Synthesis for SNRPA

    (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: 182285    OMIM disorders: --

    13 diseases for SNRPA:    About MalaCards
    mixed connective tissue disease    connective tissue disease    yellow fever    myotonic dystrophy
    tonsillitis    lupus erythematosus    cervicitis    hepatitis
    thyroiditis    cerebritis    malaria    prostatitis
    endotheliitis

    2 diseases from the University of Copenhagen DISEASES database for SNRPA:
    Mixed connective tissue disease     Lupus erythematosus

    SNRPA for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for SNRPA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mixed connective tissue disease 47.7 1 7930595 (1)
    lupus erythematosus systemic 41 5 7930595 (1), 9342149 (1), 8605931 (1), 9328587 (1) (see all 5)
    autoimmune diseases 17.4 1 7687615 (1)


    Export disorders for SNRPA 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 SNRPA gene, integrated from 10 sources (see all 155):
    (articles sorted by number of sources associating them with SNRPA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The snRNP-free U1A (SF-A) complex(es): identification of the largest subunit as PSF, the polypyrimidine-tract binding protein-associated splicing factor. (PubMed id 9848648)1, 2, 9 Lutz C.S.... Alwine J.C. (RNA 1998)
    2. Tertiary structure of RBD2 and backbone dynamics of RBD1 and RBD2 of the human U1A protein determined by NMR spectroscopy. (PubMed id 9265619)1, 2, 9 Lu J. and Hall K.B. (Biochemistry 1997)
    3. Solution structure of the N-terminal RNP domain of U1A protein: the role of C-terminal residues in structure stability and RNA binding. (PubMed id 8609632)1, 2, 9 Avis J.M....Neuhaus D. (J. Mol. Biol. 1996)
    4. Structure, chromosomal localization and evolutionary conservation of the gene encoding human U1 snRNP-specific A protein. (PubMed id 1831431)1, 2, 9 Nelissen R.L.H.... van Venrooij W.J. (Gene 1991)
    5. Crystal structure of the RNA-binding domain of the U1 small nuclear ribonucleoprotein A. (PubMed id 2147232)1, 2, 9 Nagai K.... Evans P.R. (Nature 1990)
    6. Structural basis of the RNA-binding specificity of human U1A protein. (PubMed id 9312034)1, 2, 9 Allain F.H.-T.... Varani G. (EMBO J. 1997)
    7. NMR studies of U1 snRNA recognition by the N-terminal RNP domain of the human U1A protein. (PubMed id 8070414)1, 2, 9 Howe P.W.A.... Varani G. (EMBO J. 1994)
    8. Crystal structure at 1.92-A resolution of the RNA-binding domain of the U1A spliceosomal protein complexed with an RNA hairpin. (PubMed id 7984237)1, 2, 9 Oubridge C.... Nagai K. (Nature 1994)
    9. Identification of molecular contacts between the U1 A small nuclear ribonucleoprotein and U1 RNA. (PubMed id 1833186)1, 2, 9 Jessen T.-H.... Nagai K. (EMBO J. 1991)
    10. Rapid and systematic analysis of the RNA recognition specificities of RNA-binding proteins. (PubMed id 19561594)1, 2 Ray D.... Hughes T.R. (Nat. Biotechnol. 2009)

    (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: 6626 HGNC: 11151 AceView: SNRPA Ensembl:ENSG00000077312 euGenes: HUgn6626
    ECgene: SNRPA Kegg: 6626 H-InvDB: SNRPA

    (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 SNRPA 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 SNRPA gene:
    Search GeneIP for patents involving SNRPA

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



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