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    Snrnp70 small nuclear ribonucleoprotein 70 (U1) [ Mus musculus (house mouse) ]

    Gene ID: 20637, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Snrnp70provided by MGI
    Official Full Name
    small nuclear ribonucleoprotein 70 (U1)provided by MGI
    Primary source
    MGI:MGI:98341
    See related
    Ensembl:ENSMUSG00000063511 AllianceGenome:MGI:98341
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    U1-70; Snrp70; Srnp70; U1-70K; Rnu1p70; Rnulp70; 2700022N21Rik; 3200002N22Rik
    Summary
    This gene encodes a subunit of the U1 snRNP (small nuclear ribonucleic particle), one of at least five snRNPs to comprise the spliceosome, which functions in processing of pre-mRNAs. The U1 snRNP has been shown to be important in defining the 5' splice site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 132.4), thymus adult (RPKM 114.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Snrnp70 in Genome Data Viewer
    Location:
    7 B3; 7 29.28 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (45025878..45045177, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (45376454..45395742, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 Neighboring gene STARR-positive B cell enhancer ABC_E2237 Neighboring gene STARR-positive B cell enhancer ABC_E700 Neighboring gene STARR-positive B cell enhancer ABC_E11352 Neighboring gene metastasis associated gene 2 Neighboring gene lin-7 homolog B, crumbs cell polarity complex component Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:52651210-52651456 Neighboring gene potassium voltage-gated channel, shaker-related subfamily, member 7 Neighboring gene neurotrophin 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A human autoimmune protein associated with U1 RNA contains a region of homology that is cross-reactive with retroviral p30gag antigen. Query CC, et al. Cell, 1987 Oct 23. PMID 2959371
    2. Analysis of genomic clones of the murine U1RNA-associated 70-kDa protein reveals a high evolutionary conservation of the protein between human and mouse. Hornig H, et al. Eur J Biochem, 1989 Jun 1. PMID 2525092
    3. Dissection of FUS domains involved in regulation of SnRNP70 gene expression. Nakaya T. FEBS Lett, 2020 Nov. PMID 32915994
    4. Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model. Donadon I, et al. Hum Mol Genet, 2018 Jul 15. PMID 29701768, Free PMC Article
    5. Interaction between the RNA binding domains of Ser-Arg splicing factor 1 and U1-70K snRNP protein determines early spliceosome assembly. Cho S, et al. Proc Natl Acad Sci U S A, 2011 May 17. PMID 21536904, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dissection of FUS domains involved in regulation of SnRNP70 gene expression.
      Title: Dissection of FUS domains involved in regulation of SnRNP70 gene expression.
    2. SAM68 interaction with U1A modulates U1 snRNP recruitment and regulates mTor pre-mRNA splicing.
      Title: SAM68 interaction with U1A modulates U1 snRNP recruitment and regulates mTor pre-mRNA splicing.
    3. This splice-switching class of molecules is the first to specifically correct the ELP1 exon 20 splicing defect. Our data provide proof of principle of ExSpeU1s-adeno-associated virus particles as a novel therapeutic strategy for FD.
      Title: Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables U1 snRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables U1 snRNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables U1 snRNP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of RNA splicing ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of U1 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U1 snRNP ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of U2-type prespliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    part_of ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of spliceosomal complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    U1 small nuclear ribonucleoprotein 70 kDa
    Names
    U1 small nuclear ribonucleoprotein 70 kDa polypeptide A
    U1 snRNP 70 kDa

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_009224.6 → NP_033250.3  U1 small nuclear ribonucleoprotein 70 kDa

      See identical proteins and their annotated locations for NP_033250.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the protein.
      Source sequence(s)
      AC151602
      Consensus CDS
      CCDS21240.1
      UniProtKB/Swiss-Prot
      Q3UIW4, Q62376
      UniProtKB/TrEMBL
      A2RS68
      Related
      ENSMUSP00000074160.8, ENSMUST00000074575.11
      Conserved Domains (2) summary
      cd12236
      Location:102 → 187
      RRM_snRNP70; RNA recognition motif in U1 small nuclear ribonucleoprotein 70 kDa (U1-70K) and similar proteins
      pfam12220
      Location:3 → 93
      U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal

    RNA

    1. NR_126538.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC151602
      Related
      ENSMUST00000211290.2

    2. NR_126539.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC151602
      Related
      ENSMUST00000211366.2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      45025878..45045177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036152829.1 → XP_036008722.1  U1 small nuclear ribonucleoprotein 70 kDa isoform X2

      UniProtKB/TrEMBL
      A0A1B0GRR8, Q6ZWP0
      Conserved Domains (2) summary
      pfam12220
      Location:3 → 93
      U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal
      cl17169
      Location:102 → 164
      RRM_SF; RNA recognition motif (RRM) superfamily

    2. XM_036152830.1 → XP_036008723.1  U1 small nuclear ribonucleoprotein 70 kDa isoform X2

      UniProtKB/TrEMBL
      A0A1B0GRR8, Q6ZWP0
      Related
      ENSMUSP00000147636.2, ENSMUST00000209858.2
      Conserved Domains (2) summary
      pfam12220
      Location:3 → 93
      U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal
      cl17169
      Location:102 → 164
      RRM_SF; RNA recognition motif (RRM) superfamily

    3. XM_036152827.1 → XP_036008720.1  U1 small nuclear ribonucleoprotein 70 kDa isoform X1

      Conserved Domains (2) summary
      pfam12220
      Location:3 → 93
      U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal
      cd12236
      Location:102 → 192
      RRM_snRNP70; RNA recognition motif (RRM) found in U1 small nuclear ribonucleoprotein 70 kDa (U1-70K) and similar proteins

    4. XM_011250831.3 → XP_011249133.1  U1 small nuclear ribonucleoprotein 70 kDa isoform X1

      See identical proteins and their annotated locations for XP_011249133.1

      Conserved Domains (2) summary
      pfam12220
      Location:3 → 93
      U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal
      cd12236
      Location:102 → 192
      RRM_snRNP70; RNA recognition motif (RRM) found in U1 small nuclear ribonucleoprotein 70 kDa (U1-70K) and similar proteins

    5. XM_036152828.1 → XP_036008721.1  U1 small nuclear ribonucleoprotein 70 kDa isoform X1

      Conserved Domains (2) summary
      pfam12220
      Location:3 → 93
      U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal
      cd12236
      Location:102 → 192
      RRM_snRNP70; RNA recognition motif (RRM) found in U1 small nuclear ribonucleoprotein 70 kDa (U1-70K) and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q62376.2 GenPept UniProtKB/Swiss-Prot:Q62376

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