Format

Send to:

Choose Destination
    • Showing Current items.

    Snrpn small nuclear ribonucleoprotein N [ Mus musculus (house mouse) ]

    Gene ID: 20646, updated on 12-Aug-2019

    Summary

    Official Symbol
    Snrpnprovided by MGI
    Official Full Name
    small nuclear ribonucleoprotein Nprovided by MGI
    Primary source
    MGI:MGI:98347
    See related
    Ensembl:ENSMUSG00000102252
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    SMN; Peg4; sm-D; HCERN3; snRNP-N; 2410045I01Rik
    Summary
    This locus represents a paternally-expressed imprinted gene that encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing. Genomic and genetic changes in this region result in growth defects and lethality; the corresponding region in human is the critical region for Prader-Willi Syndrome. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants may be bicistronic and also encode the SNRPN upstream reading frame protein (Snurf) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (Snhg14) may originate from the promoters at this locus and incorporate exons shared with this gene. [provided by RefSeq, Mar 2017]
    Expression
    Biased expression in cerebellum adult (RPKM 199.4), cortex adult (RPKM 198.6) and 8 other tissues See more
    Orthologs

    Genomic context

    See Snrpn in Genome Data Viewer
    Location:
    7 B5; 7 34.04 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (59982495..60450177, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (67127388..67285105, complement)

    Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 14 Neighboring gene small nucleolar RNA SNORD107 Neighboring gene small nucleolar RNA, C/D box 64 Neighboring gene SNRPN upstream reading frame Neighboring gene pyruvate dehydrogenase complex, component X pseudogene Neighboring gene 1110014K08Rik pseudogene Neighboring gene predicted gene, 18129 Neighboring gene modulator of retrovirus infection homolog Neighboring gene sorbitol dehydrogenase pseudogene Neighboring gene G kinase anchoring protein 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC18604, MGC30325

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    U1 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    U1 snRNP ISO
    Inferred from Sequence Orthology
    more info
     
    U2 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    U2 snRNP ISO
    Inferred from Sequence Orthology
    more info
     
    U2-type prespliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    U4 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    U4/U6 x U5 tri-snRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    U5 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    small nuclear ribonucleoprotein-associated protein N
    Names
    sm protein D
    sm protein N
    tissue-specific-splicing protein

    NCBI Reference Sequences (RefSeq)

    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_001082961.2NP_001076430.1  small nuclear ribonucleoprotein-associated protein N

      See identical proteins and their annotated locations for NP_001076430.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter compared to variant 1.
      Source sequence(s)
      AC172750, AK013607, AK144386, BQ042870, BU708754, BY269658, CB523964
      Consensus CDS
      CCDS39974.1
      UniProtKB/Swiss-Prot
      P63163
      UniProtKB/TrEMBL
      Q3UN87
      Conserved Domains (1) summary
      cd01717
      Location:583
      Sm_B; Sm protein B
    2. NM_001082962.2NP_001076431.1  small nuclear ribonucleoprotein-associated protein N

      See identical proteins and their annotated locations for NP_001076431.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter compared to variant 1.
      Source sequence(s)
      AC046145, AC172750, AK013607, AK144386, BU614958, BU708754, CB523964
      Consensus CDS
      CCDS39974.1
      UniProtKB/Swiss-Prot
      P63163
      UniProtKB/TrEMBL
      Q3UN87
      Related
      ENSMUSP00000096003.3, ENSMUST00000098402.4
      Conserved Domains (1) summary
      cd01717
      Location:583
      Sm_B; Sm protein B
    3. NM_001349690.1NP_001336619.1  small nuclear ribonucleoprotein-associated protein N

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter compared to variant 1.
      Source sequence(s)
      AC172750, AK144386, BC072564, CB523964
      Conserved Domains (1) summary
      cd01717
      Location:583
      Sm_B; Sm protein B
    4. NM_001349691.1NP_001336620.1  small nuclear ribonucleoprotein-associated protein N

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter compared to variant 1.
      Source sequence(s)
      AC046145, AC172750
      Conserved Domains (1) summary
      cd01717
      Location:583
      Sm_B; Sm protein B
    5. NM_001349692.1NP_001336621.1  small nuclear ribonucleoprotein-associated protein N

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents use of an alternate promoter compared to variant 1.
      Source sequence(s)
      AC046145, AC167813, AC172750
      Conserved Domains (1) summary
      cd01717
      Location:583
      Sm_B; Sm protein B
    6. NM_001349693.1NP_001336622.1  small nuclear ribonucleoprotein-associated protein N

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) represents use of an alternate promoter compared to variant 1.
      Source sequence(s)
      AC167813, AC172750
      Conserved Domains (1) summary
      cd01717
      Location:583
      Sm_B; Sm protein B
    7. NM_001349694.1NP_001336623.1  small nuclear ribonucleoprotein-associated protein N

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1.
      Source sequence(s)
      AC167813, AC172750
      Conserved Domains (1) summary
      cd01717
      Location:583
      Sm_B; Sm protein B
    8. NM_001349695.1NP_001336624.1  small nuclear ribonucleoprotein-associated protein N

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1.
      Source sequence(s)
      AC167813, AC172750
      Conserved Domains (1) summary
      cd01717
      Location:583
      Sm_B; Sm protein B
    9. NM_013670.4NP_038698.1  small nuclear ribonucleoprotein-associated protein N

      See identical proteins and their annotated locations for NP_038698.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant variant. This splice variant is bicistronic and can also encode the Snurf protein from an upstream open reading frame.
      Source sequence(s)
      AC172750, AK013607, AK144386, BU708754, BY265277, CB523964
      Consensus CDS
      CCDS39974.1
      UniProtKB/Swiss-Prot
      P63163
      UniProtKB/TrEMBL
      Q3UN87
      Related
      ENSMUSP00000055941.10, ENSMUST00000059305.16
      Conserved Domains (1) summary
      cd01717
      Location:583
      Sm_B; Sm protein B

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCm38.p6 C57BL/6J

    Genomic

    1. NC_000073.6 Reference GRCm38.p6 C57BL/6J

      Range
      59982495..60450177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center