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

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 yellow fever, and among its related super-pathways are mRNA Processing and Generic Transcription Pathway. 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: Binds stem loop II of U1 snRNA. It 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. In a snRNP-free form (SF-A) may be
involved in coupled pre-mRNA splicing and polyadenylation process. Binds preferentially to the 5'-UGCAC-3' motif
in vitro

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SNRPA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SNRPA_HUMAN, P09012 (See protein sequence)
Recommended Name: U1 small nuclear ribonucleoprotein A  
Size: 282 amino acids; 31280 Da
Subunit: Belongs to the spliceosome where it is associated with snRNP U1. Interacts with SFPQ. Also component of a
snRNP-free complex with SFPQ
Subcellular location: Nucleus
6/59 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P09012

  • SNRPA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNRPA Protein Expression
    REFSEQ proteins: NP_004587.1  
    ENSEMBL proteins: 
     ENSP00000470534   ENSP00000243563   ENSP00000469224   ENSP00000472449   ENSP00000472258  
     ENSP00000472355   ENSP00000471230  
    Reactome Protein details: P09012
    Human Recombinant Protein Products for SNRPA: 
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    Novus Biologicals SNRPA Protein
    Novus Biologicals SNRPA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SNRPA 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IDA9731529

    SNRPA for ontologies           About GeneDecksing



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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)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SNRPA_HUMAN, P09012
    Function: Binds stem loop II of U1 snRNA. It 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. In a snRNP-free form (SF-A) may be
    involved in coupled pre-mRNA splicing and polyadenylation process. Binds preferentially to the 5'-UGCAC-3' motif
    in vitro

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

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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 - Custom generated mouse model solutions for SNRPA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SNRPA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNRPA 
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    miRNA
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    5 QIAGEN miScript miRNA 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:
        
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SNRPA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA0.85
    mRNA Splicing0.82
    mRNA Processing0.85
    mRNA processing0.46
    mRNA Splicing - Major Pathway0.82
    Spliceosome0.31
    2Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SNRPA
        mRNA processing

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


    1         Kegg Pathway  (Kegg details for SNRPA):
        Spliceosome


    SNRPA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SNRPA

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

    5/644 Interacting proteins for SNRPA (P090121, 2, 3 ENSP000002435634) via UniProtKB, MINT, STRING, and/or I2D (see all 644)
    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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SNRPA for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about SNRPA

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    5 QIAGEN miScript miRNA 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:
         
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPA
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    Primer
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      QIAGEN 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 

    24/488 AceView cDNA sequences (see all 488):

    CR606390 BM740167 CR611065 CR614107 CR624653 CA306578 BM478204 BQ671697 
    BC000405 BM701785 AI452558 CR607723 CR617901 BM718224 BM682690 BQ670032 
    BG577318 BP871078 BU633509 CA313815 CR613649 BU630723 CR602490 CR622302 

    GeneLoc Exon Structure

    5/10 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™, 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

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


    SNRPA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             cd34+ cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.466775
        SABiosciences Custom PCR Arrays for SNRPA
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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SNRPA gene from 9/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snrpa1 , 5 small nuclear ribonucleoprotein polypeptide A1, 5 88.97(n)1
    96.44(a)1
      7 (15.84 cM)5
    536071  NM_001046637.11  NP_001040102.11 
     271870055 
    lizard
    (Anolis carolinensis)
    Reptilia SNRPA6
    Uncharacterized protein
    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 69.22(n)
    70.27(a)
      31442  NM_078490.3  NP_511045.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rnp-21 Protein RNP-2 60.03(n)
    56.22(a)
      177181  NM_068103.2  NP_500504.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSL1(YIR009W)4 U2B component of U2 snRNP, involved in splicing, binds the U2 snRNA stem-loop IV in vitro but requires association of Lea1p for in vivo binding; does not contain the conserved C-terminal RNA binding domain found in other family members less   --   9(374525-374860) 854826  NP_012274.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons U1A1 spliceosomal protein 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 cloneJ033105D18, full insert sequence less 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)
    About This Section
    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) 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

    10/301 SNPs in SNRPA are shown (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

    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 182285    OMIM disorders: --

    7 diseases for SNRPA:    About MalaCards
    mixed connective tissue disease    yellow fever    connective tissue disease    myotonic dystrophy
    lupus erythematosus    cervicitis    hepatitis

    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)
    About This Section

    PubMed articles for SNRPA gene, integrated from 9 sources (see all 153):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (2009)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6626 HGNC: 11151 AceView: SNRPA Ensembl:ENSG00000077312 euGenes: HUgn6626
    ECgene: SNRPA Kegg: 6626 H-InvDB: SNRPA

    (According to HUGE)
    About This Section
      --

    (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 SNRPA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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