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P63162

- RSMN_HUMAN

UniProt

P63162 - RSMN_HUMAN

Protein

Small nuclear ribonucleoprotein-associated protein N

Gene

SNRPN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 1 (27 Sep 2004)
      Previous versions | rss
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    Functioni

    May be involved in tissue-specific alternative RNA processing events.

    GO - Molecular functioni

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

    GO - Biological processi

    1. response to hormone Source: Ensembl
    2. RNA splicing Source: UniProtKB

    Keywords - Molecular functioni

    Ribonucleoprotein

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Small nuclear ribonucleoprotein-associated protein N
    Short name:
    snRNP-N
    Alternative name(s):
    Sm protein D
    Short name:
    Sm-D
    Sm protein N
    Short name:
    Sm-N
    Short name:
    SmN
    Tissue-specific-splicing protein
    Gene namesi
    Name:SNRPN
    Synonyms:HCERN3, SMN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:11164. SNRPN.

    Subcellular locationi

    GO - Cellular componenti

    1. small nuclear ribonucleoprotein complex Source: UniProtKB
    2. spliceosomal complex Source: UniProtKB
    3. U1 snRNP Source: Ensembl
    4. U2 snRNP Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti72. Angelman syndrome.
    177910. Prader-Willi syndrome due to imprinting mutation.
    98754. Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15.
    177901. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
    177904. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2.
    177907. Prader-Willi syndrome due to translocation.
    PharmGKBiPA36005.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 240240Small nuclear ribonucleoprotein-associated protein NPRO_0000125523Add
    BLAST

    Proteomic databases

    MaxQBiP63162.
    PaxDbiP63162.
    PRIDEiP63162.

    PTM databases

    PhosphoSiteiP63162.

    Expressioni

    Tissue specificityi

    Expressed in brain and lymphoblasts.1 Publication

    Gene expression databases

    BgeeiP63162.
    CleanExiHS_SNRPN.
    GenevestigatoriP63162.

    Organism-specific databases

    HPAiHPA003482.

    Interactioni

    Subunit structurei

    Interacts with TDRD3.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    POP7O758175EBI-712493,EBI-366574
    SmnQ9VV742EBI-712493,EBI-185315From a different organism.

    Protein-protein interaction databases

    BioGridi112522. 21 interactions.
    IntActiP63162. 15 interactions.
    MINTiMINT-1365854.
    STRINGi9606.ENSP00000336543.

    Structurei

    3D structure databases

    ProteinModelPortaliP63162.
    SMRiP63162. Positions 1-95.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati175 – 1817
    Repeati191 – 1966
    Repeati216 – 2216
    Repeati222 – 2287
    Repeati230 – 2367

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni175 – 23662Repeat-rich regionAdd
    BLAST

    Sequence similaritiesi

    Belongs to the snRNP SmB/SmN family.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG1958.
    HOGENOMiHOG000188899.
    HOVERGENiHBG001019.
    InParanoidiP63162.
    KOiK11100.
    OrthoDBiEOG7J70HT.
    PhylomeDBiP63162.
    TreeFamiTF314232.

    Family and domain databases

    InterProiIPR010920. LSM_dom.
    IPR001163. Ribonucl_LSM.
    IPR006649. Ribonucl_LSM_euk/arc.
    IPR017131. snRNP-assoc_SmB/SmN.
    [Graphical view]
    PfamiPF01423. LSM. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037187. snRNP_SmB/SmN. 1 hit.
    SMARTiSM00651. Sm. 1 hit.
    [Graphical view]
    SUPFAMiSSF50182. SSF50182. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P63162-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MTVGKSSKML QHIDYRMRCI LQDGRIFIGT FKAFDKHMNL ILCDCDEFRK    50
    IKPKNAKQPE REEKRVLGLV LLRGENLVSM TVEGPPPKDT GIARVPLAGA 100
    AGGPGVGRAA GRGVPAGVPI PQAPAGLAGP VRGVGGPSQQ VMTPQGRGTV 150
    AAAAVAATAS IAGAPTQYPP GRGTPPPPVG RATPPPGIMA PPPGMRPPMG 200
    PPIGLPPARG TPIGMPPPGM RPPPPGIRGP PPPGMRPPRP 240
    Length:240
    Mass (Da):24,614
    Last modified:September 27, 2004 - v1
    Checksum:i9A176D043561474C
    GO
    Isoform 2 (identifier: P63162-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MMDSQ

    Note: No experimental confirmation available.

    Show »
    Length:244
    Mass (Da):25,076
    Checksum:i3571C3010653A837
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti43 – 442Missing(PubMed:8363612)Curated
    Sequence conflicti75 – 751E → Q(PubMed:8363612)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MMDSQ in isoform 2. 1 PublicationVSP_056488

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X15892 mRNA. Translation: CAA33901.1.
    J04615 mRNA. Translation: AAA36617.1.
    U41303 mRNA. Translation: AAA98969.1.
    AF400432 mRNA. Translation: AAK92481.1.
    AK123119 mRNA. Translation: BAG53873.1.
    CR450350 mRNA. Translation: CAG29346.1.
    AC090602 Genomic DNA. No translation available.
    AC090983 Genomic DNA. No translation available.
    AC124312 Genomic DNA. No translation available.
    BC000611 mRNA. Translation: AAH00611.1.
    BC003180 mRNA. Translation: AAH03180.1.
    BC024777 mRNA. Translation: AAH24777.1.
    BC025178 mRNA. Translation: AAH25178.1.
    CCDSiCCDS10017.1.
    PIRiA33270.
    RefSeqiNP_003088.1. NM_003097.3.
    NP_073716.1. NM_022805.2.
    NP_073717.1. NM_022806.2.
    NP_073718.1. NM_022807.2.
    NP_073719.1. NM_022808.2.
    UniGeneiHs.555970.
    Hs.564847.
    Hs.578619.
    Hs.585703.
    Hs.621316.
    Hs.632166.
    Hs.728856.
    Hs.731866.
    Hs.733072.
    Hs.737651.

    Genome annotation databases

    EnsembliENST00000346403; ENSP00000306223; ENSG00000128739.
    ENST00000390687; ENSP00000375105; ENSG00000128739.
    ENST00000400097; ENSP00000382969; ENSG00000128739.
    ENST00000400098; ENSP00000382970; ENSG00000128739.
    ENST00000400100; ENSP00000382972; ENSG00000128739.
    ENST00000444203; ENSP00000408767; ENSG00000128739.
    ENST00000577565; ENSP00000463458; ENSG00000128739.
    GeneIDi6638.
    KEGGihsa:6638.
    UCSCiuc001ywp.1. human.

    Polymorphism databases

    DMDMi52783794.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X15892 mRNA. Translation: CAA33901.1 .
    J04615 mRNA. Translation: AAA36617.1 .
    U41303 mRNA. Translation: AAA98969.1 .
    AF400432 mRNA. Translation: AAK92481.1 .
    AK123119 mRNA. Translation: BAG53873.1 .
    CR450350 mRNA. Translation: CAG29346.1 .
    AC090602 Genomic DNA. No translation available.
    AC090983 Genomic DNA. No translation available.
    AC124312 Genomic DNA. No translation available.
    BC000611 mRNA. Translation: AAH00611.1 .
    BC003180 mRNA. Translation: AAH03180.1 .
    BC024777 mRNA. Translation: AAH24777.1 .
    BC025178 mRNA. Translation: AAH25178.1 .
    CCDSi CCDS10017.1.
    PIRi A33270.
    RefSeqi NP_003088.1. NM_003097.3.
    NP_073716.1. NM_022805.2.
    NP_073717.1. NM_022806.2.
    NP_073718.1. NM_022807.2.
    NP_073719.1. NM_022808.2.
    UniGenei Hs.555970.
    Hs.564847.
    Hs.578619.
    Hs.585703.
    Hs.621316.
    Hs.632166.
    Hs.728856.
    Hs.731866.
    Hs.733072.
    Hs.737651.

    3D structure databases

    ProteinModelPortali P63162.
    SMRi P63162. Positions 1-95.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112522. 21 interactions.
    IntActi P63162. 15 interactions.
    MINTi MINT-1365854.
    STRINGi 9606.ENSP00000336543.

    PTM databases

    PhosphoSitei P63162.

    Polymorphism databases

    DMDMi 52783794.

    Proteomic databases

    MaxQBi P63162.
    PaxDbi P63162.
    PRIDEi P63162.

    Protocols and materials databases

    DNASUi 6638.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000346403 ; ENSP00000306223 ; ENSG00000128739 .
    ENST00000390687 ; ENSP00000375105 ; ENSG00000128739 .
    ENST00000400097 ; ENSP00000382969 ; ENSG00000128739 .
    ENST00000400098 ; ENSP00000382970 ; ENSG00000128739 .
    ENST00000400100 ; ENSP00000382972 ; ENSG00000128739 .
    ENST00000444203 ; ENSP00000408767 ; ENSG00000128739 .
    ENST00000577565 ; ENSP00000463458 ; ENSG00000128739 .
    GeneIDi 6638.
    KEGGi hsa:6638.
    UCSCi uc001ywp.1. human.

    Organism-specific databases

    CTDi 6638.
    GeneCardsi GC15P025068.
    GeneReviewsi SNRPN.
    HGNCi HGNC:11164. SNRPN.
    HPAi HPA003482.
    MIMi 182279. gene.
    neXtProti NX_P63162.
    Orphaneti 72. Angelman syndrome.
    177910. Prader-Willi syndrome due to imprinting mutation.
    98754. Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15.
    177901. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
    177904. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2.
    177907. Prader-Willi syndrome due to translocation.
    PharmGKBi PA36005.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1958.
    HOGENOMi HOG000188899.
    HOVERGENi HBG001019.
    InParanoidi P63162.
    KOi K11100.
    OrthoDBi EOG7J70HT.
    PhylomeDBi P63162.
    TreeFami TF314232.

    Miscellaneous databases

    ChiTaRSi SNRPN. human.
    GeneWikii Small_nuclear_ribonucleoprotein_polypeptide_N.
    GenomeRNAii 6638.
    NextBioi 25861.
    PROi P63162.
    SOURCEi Search...

    Gene expression databases

    Bgeei P63162.
    CleanExi HS_SNRPN.
    Genevestigatori P63162.

    Family and domain databases

    InterProi IPR010920. LSM_dom.
    IPR001163. Ribonucl_LSM.
    IPR006649. Ribonucl_LSM_euk/arc.
    IPR017131. snRNP-assoc_SmB/SmN.
    [Graphical view ]
    Pfami PF01423. LSM. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037187. snRNP_SmB/SmN. 1 hit.
    SMARTi SM00651. Sm. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50182. SSF50182. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'."
      Schmauss C., McAllister G., Ohosone Y., Hardin J.A., Lerner M.R.
      Nucleic Acids Res. 17:1733-1743(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Cerebellum.
    2. "Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis."
      Rokeach L.A., Jannatipour M., Haselby J.A., Hoch S.O.
      J. Biol. Chem. 264:5024-5030(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE.
    3. "Expression of the major human ribonucleoprotein (RNP) autoantigens in Escherichia coli and their use in an EIA for screening sera from patients with autoimmune diseases."
      Renz M., Heim C., Braeunling O., Czichos A., Wieland C., Seelig H.P.
      Clin. Chem. 35:1861-1863(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. "Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene."
      Glenn C.C., Saitoh S., Jong M.T., Filbrandt M.M., Surti U., Driscoll D.J., Nicholls R.D.
      Am. J. Hum. Genet. 58:335-346(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    5. Feng Z., Zhang B., Peng X., Yuan J., Qiang B.
      Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Cerebellum.
    7. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    8. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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] (ISOFORM 1).
      Tissue: Brain, Kidney and Uterus.
    10. "Isolation and structural characterization of the rat gene encoding the brain specific snRNP-associated polypeptide 'N'."
      Esposito F., Fiore F., Cimino F., Russo T.
      Biochem. Biophys. Res. Commun. 195:317-326(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-140 (ISOFORM 1).
    11. "Isolation of cDNA clones encoding the human Sm B/B' auto-immune antigen and specifically reacting with human anti-Sm auto-immune sera."
      Sharpe N.G., Williams D.G., Howarth D.N., Coles B., Latchman D.S.
      FEBS Lett. 250:585-590(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 23-218 (ISOFORM 1).
    12. "An imprinted, mammalian bicistronic transcript encodes two independent proteins."
      Gray T.A., Saitoh S., Nicholls R.D.
      Proc. Natl. Acad. Sci. U.S.A. 96:5616-5621(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    13. "Tudor domains bind symmetrical dimethylated arginines."
      Cote J., Richard S.
      J. Biol. Chem. 280:28476-28483(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TDRD3.

    Entry informationi

    Entry nameiRSMN_HUMAN
    AccessioniPrimary (citable) accession number: P63162
    Secondary accession number(s): B3KVR1
    , P14648, P17135, Q0D2Q5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 27, 2004
    Last sequence update: September 27, 2004
    Last modified: October 1, 2014
    This is version 112 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Encoded on a bicistronic transcript that code for two proteins, SNRPN and SNURF.
    Patients with the autoimmune disease systemic lupus erythematosus (SLE) have autoantibodies directed against some of the individual snRNP polypeptides. The most common autoantigen is called Sm. N bears Sm epitopes.

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3