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

Gene ID: 20646, updated on 21-Dec-2022

Summary

Official Symbol
Snrpnprovided by MGI
Official Full Name
small nuclear ribonucleoprotein Nprovided by MGI
Primary source
MGI:MGI:98347
See related
Ensembl:ENSMUSG00000102252 AllianceGenome:MGI:98347
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
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Genomic context

See Snrpn in Genome Data Viewer
Location:
7 B5; 7 34.04 cM
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (59632243..60099925, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (59982495..60450177, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 14 Neighboring gene small nucleolar RNA, C/D box 107 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 Neighboring gene sorbitol dehydrogenase-like

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)
  • Targeted (8)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

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
enables RNA 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
PubMed 
Component Evidence Code Pubs
part_of U1 snRNP IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of U1 snRNP ISO
Inferred from Sequence Orthology
more info
 
part_of U2 snRNP IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of U2 snRNP ISO
Inferred from Sequence Orthology
more info
 
part_of U2-type prespliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of U4 snRNP IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of U4/U6 x U5 tri-snRNP complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of U5 snRNP IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of catalytic step 2 spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in 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)

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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_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
    A0A6P5Q1R2, A0A8C6MYE8, 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
    A0A6P5Q1R2, A0A8C6MYE8, Q3UN87
    Related
    ENSMUSP00000096003.4, ENSMUST00000098402.5
    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
    Consensus CDS
    CCDS39974.1
    UniProtKB/TrEMBL
    A0A6P5Q1R2, A0A8C6MYE8, Q3UN87
    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
    Consensus CDS
    CCDS39974.1
    UniProtKB/TrEMBL
    A0A6P5Q1R2, A0A8C6MYE8, Q3UN87
    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
    Consensus CDS
    CCDS39974.1
    UniProtKB/TrEMBL
    A0A6P5Q1R2, A0A8C6MYE8, Q3UN87
    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
    Consensus CDS
    CCDS39974.1
    UniProtKB/TrEMBL
    A0A6P5Q1R2, A0A8C6MYE8, Q3UN87
    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
    Consensus CDS
    CCDS39974.1
    UniProtKB/TrEMBL
    A0A6P5Q1R2, A0A8C6MYE8, Q3UN87
    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
    Consensus CDS
    CCDS39974.1
    UniProtKB/TrEMBL
    A0A6P5Q1R2, A0A8C6MYE8, Q3UN87
    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
    A0A6P5Q1R2, A0A8C6MYE8, Q3UN87
    Related
    ENSMUSP00000055941.11, ENSMUST00000059305.17
    Conserved Domains (1) summary
    cd01717
    Location:583
    Sm_B; Sm protein B

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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
    59632243..60099925 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)