RSMN_HUMAN
ID RSMN_HUMAN Reviewed; 240 AA.
AC P63162; B3KVR1; P14648; P17135; Q0D2Q5;
DT 27-SEP-2004, integrated into UniProtKB/Swiss-Prot.
DT 27-SEP-2004, sequence version 1.
DT 03-AUG-2022, entry version 177.
DE RecName: Full=Small nuclear ribonucleoprotein-associated protein N;
DE Short=snRNP-N;
DE AltName: Full=Sm protein D;
DE Short=Sm-D;
DE AltName: Full=Sm protein N;
DE Short=Sm-N;
DE Short=SmN;
DE AltName: Full=Tissue-specific-splicing protein;
GN Name=SNRPN; Synonyms=HCERN3, SMN;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Cerebellum;
RX PubMed=2522186; DOI=10.1093/nar/17.4.1733;
RA Schmauss C., McAllister G., Ohosone Y., Hardin J.A., Lerner M.R.;
RT "A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human
RT B/B'.";
RL Nucleic Acids Res. 17:1733-1743(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND PARTIAL PROTEIN SEQUENCE.
RX PubMed=2522449; DOI=10.1016/s0021-9258(18)83693-6;
RA Rokeach L.A., Jannatipour M., Haselby J.A., Hoch S.O.;
RT "Primary structure of a human small nuclear ribonucleoprotein polypeptide
RT as deduced by cDNA analysis.";
RL J. Biol. Chem. 264:5024-5030(1989).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=2528429;
RA Renz M., Heim C., Braeunling O., Czichos A., Wieland C., Seelig H.P.;
RT "Expression of the major human ribonucleoprotein (RNP) autoantigens in
RT Escherichia coli and their use in an EIA for screening sera from patients
RT with autoimmune diseases.";
RL Clin. Chem. 35:1861-1863(1989).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=8571960;
RA Glenn C.C., Saitoh S., Jong M.T., Filbrandt M.M., Surti U., Driscoll D.J.,
RA Nicholls R.D.;
RT "Gene structure, DNA methylation, and imprinted expression of the human
RT SNRPN gene.";
RL Am. J. Hum. Genet. 58:335-346(1996).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Feng Z., Zhang B., Peng X., Yuan J., Qiang B.;
RL Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, Kidney, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [10]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-140 (ISOFORM 1).
RX PubMed=8363612; DOI=10.1006/bbrc.1993.2047;
RA Esposito F., Fiore F., Cimino F., Russo T.;
RT "Isolation and structural characterization of the rat gene encoding the
RT brain specific snRNP-associated polypeptide 'N'.";
RL Biochem. Biophys. Res. Commun. 195:317-326(1993).
RN [11]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 23-218 (ISOFORM 1).
RX PubMed=2753153; DOI=10.1016/0014-5793(89)80801-4;
RA Sharpe N.G., Williams D.G., Howarth D.N., Coles B., Latchman D.S.;
RT "Isolation of cDNA clones encoding the human Sm B/B' auto-immune antigen
RT and specifically reacting with human anti-Sm auto-immune sera.";
RL FEBS Lett. 250:585-590(1989).
RN [12]
RP TISSUE SPECIFICITY.
RX PubMed=10318933; DOI=10.1073/pnas.96.10.5616;
RA Gray T.A., Saitoh S., Nicholls R.D.;
RT "An imprinted, mammalian bicistronic transcript encodes two independent
RT proteins.";
RL Proc. Natl. Acad. Sci. U.S.A. 96:5616-5621(1999).
RN [13]
RP INTERACTION WITH TDRD3.
RX PubMed=15955813; DOI=10.1074/jbc.m414328200;
RA Cote J., Richard S.;
RT "Tudor domains bind symmetrical dimethylated arginines.";
RL J. Biol. Chem. 280:28476-28483(2005).
RN [14]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-172, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Colon carcinoma;
RX PubMed=24129315; DOI=10.1074/mcp.o113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M.,
RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
CC -!- FUNCTION: May be involved in tissue-specific alternative RNA processing
CC events.
CC -!- SUBUNIT: Interacts with TDRD3. {ECO:0000269|PubMed:15955813}.
CC -!- INTERACTION:
CC P63162; O95400: CD2BP2; NbExp=4; IntAct=EBI-712493, EBI-768015;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P63162-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P63162-2; Sequence=VSP_056488;
CC -!- TISSUE SPECIFICITY: Expressed in brain and lymphoblasts.
CC {ECO:0000269|PubMed:10318933}.
CC -!- MISCELLANEOUS: Encoded on a bicistronic transcript that code for two
CC proteins, SNRPN and SNURF.
CC -!- MISCELLANEOUS: Patients with the autoimmune disease systemic lupus
CC erythematosus (SLE) have autoantibodies directed against some of the
CC individual snRNP polypeptides. The most common autoantigen is called
CC Sm. N bears Sm epitopes.
CC -!- SIMILARITY: Belongs to the snRNP SmB/SmN family. {ECO:0000305}.
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DR EMBL; X15892; CAA33901.1; -; mRNA.
DR EMBL; J04615; AAA36617.1; -; mRNA.
DR EMBL; U41303; AAA98969.1; -; mRNA.
DR EMBL; AF400432; AAK92481.1; -; mRNA.
DR EMBL; AK123119; BAG53873.1; -; mRNA.
DR EMBL; CR450350; CAG29346.1; -; mRNA.
DR EMBL; AC090602; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090983; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC124312; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000611; AAH00611.1; -; mRNA.
DR EMBL; BC003180; AAH03180.1; -; mRNA.
DR EMBL; BC024777; AAH24777.1; -; mRNA.
DR EMBL; BC025178; AAH25178.1; -; mRNA.
DR CCDS; CCDS10017.1; -. [P63162-1]
DR PIR; A33270; A33270.
DR RefSeq; NP_003088.1; NM_003097.4. [P63162-1]
DR RefSeq; NP_005669.2; NM_005678.4.
DR RefSeq; NP_073716.1; NM_022805.3. [P63162-1]
DR RefSeq; NP_073717.1; NM_022806.3. [P63162-1]
DR RefSeq; NP_073718.1; NM_022807.3. [P63162-1]
DR RefSeq; NP_073719.1; NM_022808.3. [P63162-1]
DR PDB; 5MF9; NMR; -; B=219-225.
DR PDBsum; 5MF9; -.
DR AlphaFoldDB; P63162; -.
DR SMR; P63162; -.
DR BioGRID; 112522; 170.
DR CORUM; P63162; -.
DR IntAct; P63162; 110.
DR MINT; P63162; -.
DR STRING; 9606.ENSP00000382972; -.
DR iPTMnet; P63162; -.
DR MetOSite; P63162; -.
DR PhosphoSitePlus; P63162; -.
DR SwissPalm; P63162; -.
DR BioMuta; SNRPN; -.
DR DMDM; 52783794; -.
DR EPD; P63162; -.
DR jPOST; P63162; -.
DR MassIVE; P63162; -.
DR MaxQB; P63162; -.
DR PaxDb; P63162; -.
DR PeptideAtlas; P63162; -.
DR PRIDE; P63162; -.
DR ProteomicsDB; 3764; -.
DR ProteomicsDB; 57499; -. [P63162-1]
DR Antibodypedia; 22280; 162 antibodies from 26 providers.
DR DNASU; 6638; -.
DR Ensembl; ENST00000346403.10; ENSP00000306223.10; ENSG00000128739.23. [P63162-1]
DR Ensembl; ENST00000390687.9; ENSP00000375105.4; ENSG00000128739.23. [P63162-1]
DR Ensembl; ENST00000400097.5; ENSP00000382969.1; ENSG00000128739.23. [P63162-1]
DR Ensembl; ENST00000400100.5; ENSP00000382972.1; ENSG00000128739.23. [P63162-1]
DR Ensembl; ENST00000554227.6; ENSP00000452342.2; ENSG00000128739.23. [P63162-2]
DR Ensembl; ENST00000577565.1; ENSP00000463458.1; ENSG00000128739.23. [P63162-1]
DR Ensembl; ENST00000642807.1; ENSP00000495345.1; ENSG00000128739.23. [P63162-1]
DR Ensembl; ENST00000645002.1; ENSP00000494831.1; ENSG00000128739.23. [P63162-1]
DR GeneID; 6638; -.
DR GeneID; 8926; -.
DR KEGG; hsa:6638; -.
DR KEGG; hsa:8926; -.
DR MANE-Select; ENST00000390687.9; ENSP00000375105.4; NM_003097.6; NP_003088.1.
DR UCSC; uc059gty.1; human. [P63162-1]
DR CTD; 6638; -.
DR CTD; 8926; -.
DR DisGeNET; 6638; -.
DR DisGeNET; 8926; -.
DR GeneCards; SNRPN; -.
DR GeneReviews; SNRPN; -.
DR HGNC; HGNC:11164; SNRPN.
DR HPA; ENSG00000128739; Low tissue specificity.
DR MalaCards; SNRPN; -.
DR MIM; 182279; gene.
DR neXtProt; NX_P63162; -.
DR OpenTargets; ENSG00000128739; -.
DR Orphanet; 411515; Angelman syndrome due to imprinting defect in 15q11-q13.
DR Orphanet; 177910; Prader-Willi syndrome due to imprinting mutation.
DR Orphanet; 98754; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15.
DR Orphanet; 177901; Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
DR Orphanet; 177904; Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2.
DR Orphanet; 177907; Prader-Willi syndrome due to translocation.
DR PharmGKB; PA36005; -.
DR VEuPathDB; HostDB:ENSG00000128739; -.
DR eggNOG; KOG3168; Eukaryota.
DR GeneTree; ENSGT00940000158222; -.
DR HOGENOM; CLU_076902_1_0_1; -.
DR InParanoid; P63162; -.
DR OMA; FAPQRPG; -.
DR OrthoDB; 1630470at2759; -.
DR PhylomeDB; P63162; -.
DR TreeFam; TF314232; -.
DR PathwayCommons; P63162; -.
DR Reactome; R-HSA-72163; mRNA Splicing - Major Pathway.
DR SignaLink; P63162; -.
DR SIGNOR; P63162; -.
DR BioGRID-ORCS; 6638; 12 hits in 1065 CRISPR screens.
DR BioGRID-ORCS; 8926; 5 hits in 1049 CRISPR screens.
DR ChiTaRS; SNRPN; human.
DR GeneWiki; Small_nuclear_ribonucleoprotein_polypeptide_N; -.
DR Pharos; P63162; Tbio.
DR PRO; PR:P63162; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; P63162; protein.
DR Bgee; ENSG00000128739; Expressed in superior frontal gyrus and 99 other tissues.
DR ExpressionAtlas; P63162; baseline and differential.
DR Genevisible; P63162; HS.
DR GO; GO:0071013; C:catalytic step 2 spliceosome; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0030532; C:small nuclear ribonucleoprotein complex; TAS:UniProtKB.
DR GO; GO:0005681; C:spliceosomal complex; TAS:UniProtKB.
DR GO; GO:0005685; C:U1 snRNP; IBA:GO_Central.
DR GO; GO:0005686; C:U2 snRNP; IBA:GO_Central.
DR GO; GO:0071004; C:U2-type prespliceosome; IBA:GO_Central.
DR GO; GO:0005687; C:U4 snRNP; IBA:GO_Central.
DR GO; GO:0046540; C:U4/U6 x U5 tri-snRNP complex; IBA:GO_Central.
DR GO; GO:0005682; C:U5 snRNP; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; IEA:UniProtKB-KW.
DR GO; GO:0000398; P:mRNA splicing, via spliceosome; IBA:GO_Central.
DR GO; GO:0008380; P:RNA splicing; TAS:UniProtKB.
DR InterPro; IPR001163; LSM_dom_euk/arc.
DR InterPro; IPR010920; LSM_dom_sf.
DR InterPro; IPR017131; snRNP-assoc_SmB/SmN.
DR Pfam; PF01423; LSM; 1.
DR PIRSF; PIRSF037187; snRNP_SmB/SmN; 1.
DR SMART; SM00651; Sm; 1.
DR SUPFAM; SSF50182; SSF50182; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Direct protein sequencing; Methylation;
KW Nucleus; Reference proteome; Repeat; Ribonucleoprotein; RNA-binding.
FT CHAIN 1..240
FT /note="Small nuclear ribonucleoprotein-associated protein
FT N"
FT /id="PRO_0000125523"
FT REPEAT 175..181
FT REPEAT 191..196
FT REPEAT 216..221
FT REPEAT 222..228
FT REPEAT 230..236
FT REGION 163..240
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 175..236
FT /note="Repeat-rich region"
FT COMPBIAS 169..240
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 108
FT /note="Asymmetric dimethylarginine; alternate"
FT /evidence="ECO:0000250|UniProtKB:P14678"
FT MOD_RES 108
FT /note="Dimethylated arginine; alternate"
FT /evidence="ECO:0000250|UniProtKB:P14678"
FT MOD_RES 108
FT /note="Omega-N-methylarginine; alternate"
FT /evidence="ECO:0000250|UniProtKB:P63163"
FT MOD_RES 112
FT /note="Asymmetric dimethylarginine; alternate"
FT /evidence="ECO:0000250|UniProtKB:P14678"
FT MOD_RES 112
FT /note="Dimethylated arginine; alternate"
FT /evidence="ECO:0000250|UniProtKB:P14678"
FT MOD_RES 112
FT /note="Omega-N-methylarginine; alternate"
FT /evidence="ECO:0000250|UniProtKB:P14678"
FT MOD_RES 147
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:P14678"
FT MOD_RES 172
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT VAR_SEQ 1
FT /note="M -> MMDSQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056488"
FT CONFLICT 43..44
FT /note="Missing (in Ref. 10)"
FT /evidence="ECO:0000305"
FT CONFLICT 75
FT /note="E -> Q (in Ref. 10)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 240 AA; 24614 MW; 9A176D043561474C CRC64;
MTVGKSSKML QHIDYRMRCI LQDGRIFIGT FKAFDKHMNL ILCDCDEFRK IKPKNAKQPE
REEKRVLGLV LLRGENLVSM TVEGPPPKDT GIARVPLAGA AGGPGVGRAA GRGVPAGVPI
PQAPAGLAGP VRGVGGPSQQ VMTPQGRGTV AAAAVAATAS IAGAPTQYPP GRGTPPPPVG
RATPPPGIMA PPPGMRPPMG PPIGLPPARG TPIGMPPPGM RPPPPGIRGP PPPGMRPPRP
