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P97801

- SMN_MOUSE

UniProt

P97801 - SMN_MOUSE

Protein

Survival motor neuron protein

Gene

Smn1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    Functioni

    The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. RNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. axonogenesis Source: MGI
    2. microtubule depolymerization Source: MGI
    3. positive regulation of protein import into nucleus Source: UniProtKB
    4. spliceosomal snRNP assembly Source: UniProtKB

    Keywords - Biological processi

    mRNA processing, mRNA splicing, Neurogenesis

    Keywords - Ligandi

    RNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_206812. snRNP Assembly.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Survival motor neuron protein
    Gene namesi
    Name:Smn1
    Synonyms:Smn
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 13

    Organism-specific databases

    MGIiMGI:109257. Smn1.

    Subcellular locationi

    Cytoplasm By similarity. Nucleusgem By similarity. NucleusCajal body By similarity. Cytoplasmic granule By similarity. CytoplasmmyofibrilsarcomereZ line 1 Publication
    Note: Under stress conditions colocalizes with Rpp20/Pop7 in punctuated cytoplasmic granules. Colocalized and redistributed with ZPR1 from the cytoplasm to nuclear gems (Gemini of coiled bodies) and Cajal bodies By similarity.By similarity

    GO - Cellular componenti

    1. Cajal body Source: UniProtKB
    2. cytoplasm Source: MGI
    3. cytosol Source: UniProtKB
    4. Gemini of coiled bodies Source: UniProtKB
    5. nucleoplasm Source: UniProtKB
    6. nucleus Source: MGI
    7. SMN complex Source: UniProtKB
    8. SMN-Sm protein complex Source: UniProtKB
    9. Z disc Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi131 – 1311E → K: Loss of interaction with SYNCRIP. 1 Publication
    Mutagenesisi257 – 2571S → I: Loss of interaction with SYNCRIP. 1 Publication
    Mutagenesisi267 – 2671Y → C: Loss of interaction with SYNCRIP. 1 Publication
    Mutagenesisi269 – 2691T → I: Loss of interaction with SYNCRIP. 1 Publication
    Mutagenesisi274 – 2741G → V: Loss of interaction with SYNCRIP. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 288288Survival motor neuron proteinPRO_0000218904Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei5 – 51PhosphoserineBy similarity
    Modified residuei22 – 221PhosphothreonineBy similarity
    Modified residuei25 – 251Phosphoserine2 Publications
    Modified residuei28 – 281Phosphoserine2 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiP97801.
    PRIDEiP97801.

    PTM databases

    PhosphoSiteiP97801.

    Expressioni

    Gene expression databases

    ArrayExpressiP97801.
    BgeeiP97801.
    CleanExiMM_SMN1.
    GenevestigatoriP97801.

    Interactioni

    Subunit structurei

    Homodimer. Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG. Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259. Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3. Interacts with OSTF1, LSM10, LSM11 and RPP20/POP7. Interacts (via C-terminal region) with ZPR1 (via C-terminal region). Interacts (via Tudor domain) with COIL.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NS1P031343EBI-309807,EBI-9515229From a different organism.

    Protein-protein interaction databases

    BioGridi203344. 7 interactions.
    IntActiP97801. 4 interactions.
    STRINGi10090.ENSMUSP00000022147.

    Structurei

    3D structure databases

    ProteinModelPortaliP97801.
    SMRiP97801. Positions 23-48, 87-141, 247-276.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini88 – 14861TudorPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni10 – 4132P1 (binding site for GEMIN2)By similarityAdd
    BLAST
    Regioni94 – 204111Required for interaction with RPP20/POP7By similarityAdd
    BLAST
    Regioni235 – 26228P2 (binding site for SNRPB)By similarityAdd
    BLAST
    Regioni274 – 28815Required for interaction with SYNCRIPBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi190 – 1967Poly-Pro
    Compositional biasi212 – 22211Poly-ProAdd
    BLAST
    Compositional biasi239 – 2435Poly-Pro

    Domaini

    The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins.By similarity

    Sequence similaritiesi

    Belongs to the SMN family.Curated
    Contains 1 Tudor domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG296671.
    HOGENOMiHOG000232199.
    HOVERGENiHBG000211.
    InParanoidiP97801.
    KOiK13129.
    OMAiTTPLKQW.
    OrthoDBiEOG7K6PVX.
    PhylomeDBiP97801.
    TreeFamiTF318390.

    Family and domain databases

    InterProiIPR010304. Survival_motor_neuron.
    IPR002999. Tudor.
    [Graphical view]
    PfamiPF06003. SMN. 1 hit.
    [Graphical view]
    SMARTiSM00333. TUDOR. 1 hit.
    [Graphical view]
    PROSITEiPS50304. TUDOR. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P97801-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAMGSGGAGS EQEDTVLFRR GTGQSDDSDI WDDTALIKAY DKAVASFKHA    50
    LKNGDICETP DKPKGTARRK PAKKNKSQKK NATTPLKQWK VGDKCSAVWS 100
    EDGCIYPATI TSIDFKRETC VVVYTGYGNR EEQNLSDLLS PTCEVANSTE 150
    QNTQENESQV STDDSEHSSR SLRSKAHSKS KAAPWTSFLP PPPPMPGSGL 200
    GPGKPGLKFN GPPPPPPLPP PPFLPCWMPP FPSGPPIIPP PPPISPDCLD 250
    DTDALGSMLI SWYMSGYHTG YYMGFRQNKK EGKCSHTN 288
    Length:288
    Mass (Da):31,254
    Last modified:May 1, 1997 - v1
    Checksum:i757B3074649F7458
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U63294 mRNA. Translation: AAC53057.1.
    U77714 mRNA. Translation: AAC53144.1.
    Y12835 mRNA. Translation: CAA73356.1.
    BC045158 mRNA. Translation: AAH45158.1.
    CCDSiCCDS26725.1.
    RefSeqiNP_001239558.1. NM_001252629.1.
    NP_035550.1. NM_011420.2.
    UniGeneiMm.2025.

    Genome annotation databases

    EnsembliENSMUST00000022147; ENSMUSP00000022147; ENSMUSG00000021645.
    GeneIDi20595.
    KEGGimmu:20595.
    UCSCiuc007rqh.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U63294 mRNA. Translation: AAC53057.1 .
    U77714 mRNA. Translation: AAC53144.1 .
    Y12835 mRNA. Translation: CAA73356.1 .
    BC045158 mRNA. Translation: AAH45158.1 .
    CCDSi CCDS26725.1.
    RefSeqi NP_001239558.1. NM_001252629.1.
    NP_035550.1. NM_011420.2.
    UniGenei Mm.2025.

    3D structure databases

    ProteinModelPortali P97801.
    SMRi P97801. Positions 23-48, 87-141, 247-276.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 203344. 7 interactions.
    IntActi P97801. 4 interactions.
    STRINGi 10090.ENSMUSP00000022147.

    PTM databases

    PhosphoSitei P97801.

    Proteomic databases

    PaxDbi P97801.
    PRIDEi P97801.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000022147 ; ENSMUSP00000022147 ; ENSMUSG00000021645 .
    GeneIDi 20595.
    KEGGi mmu:20595.
    UCSCi uc007rqh.1. mouse.

    Organism-specific databases

    CTDi 6606.
    MGIi MGI:109257. Smn1.

    Phylogenomic databases

    eggNOGi NOG296671.
    HOGENOMi HOG000232199.
    HOVERGENi HBG000211.
    InParanoidi P97801.
    KOi K13129.
    OMAi TTPLKQW.
    OrthoDBi EOG7K6PVX.
    PhylomeDBi P97801.
    TreeFami TF318390.

    Enzyme and pathway databases

    Reactomei REACT_206812. snRNP Assembly.

    Miscellaneous databases

    NextBioi 298911.
    PROi P97801.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P97801.
    Bgeei P97801.
    CleanExi MM_SMN1.
    Genevestigatori P97801.

    Family and domain databases

    InterProi IPR010304. Survival_motor_neuron.
    IPR002999. Tudor.
    [Graphical view ]
    Pfami PF06003. SMN. 1 hit.
    [Graphical view ]
    SMARTi SM00333. TUDOR. 1 hit.
    [Graphical view ]
    PROSITEi PS50304. TUDOR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn)."
      Viollet L., Bertrandy S., Brunialti A.L.B., Lefebvre S., Burlet P., Clermont O., Cruaud C., Guenet J.-L., Munnich A., Melki J.
      Genomics 40:185-188(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene."
      Didonato C.J., Chen X.N., Noya D., Korenberg J.R., Nadeau J.H., Simard L.R.
      Genome Res. 7:339-352(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos."
      Schrank B., Goetz R., Gunnersen J.M., Ure J.M., Toyka K.V., Smith A.G., Sendtner M.
      Proc. Natl. Acad. Sci. U.S.A. 94:9920-9925(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: BALB/c.
      Tissue: Brain.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: FVB/N-3.
      Tissue: Mammary gland.
    5. "Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?"
      Rossoll W., Kroening A.-K., Ohndorf U.-M., Steegborn C., Jablonka S., Sendtner M.
      Hum. Mol. Genet. 11:93-105(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SYNCRIP, MUTAGENESIS OF GLU-131; SER-257; TYR-267; THR-269 AND GLY-274.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-25, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic brain.
    7. "A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle."
      Rajendra T.K., Gonsalvez G.B., Walker M.P., Shpargel K.B., Salz H.K., Matera A.G.
      J. Cell Biol. 176:831-841(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-28, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Liver.
    9. "The phagosomal proteome in interferon-gamma-activated macrophages."
      Trost M., English L., Lemieux S., Courcelles M., Desjardins M., Thibault P.
      Immunity 30:143-154(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-25 AND SER-28, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "An SMN-dependent U12 splicing event essential for motor circuit function."
      Lotti F., Imlach W.L., Saieva L., Beck E.S., Hao le T., Li D.K., Jiao W., Mentis G.Z., Beattie C.E., McCabe B.D., Pellizzoni L.
      Cell 151:440-454(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN U12 INTRONS SPLICING.

    Entry informationi

    Entry nameiSMN_MOUSE
    AccessioniPrimary (citable) accession number: P97801
    Secondary accession number(s): O09092
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: May 1, 1997
    Last modified: October 1, 2014
    This is version 128 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3