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 27-MAR-2024, entry version 186. 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 P63162; P13569: CFTR; NbExp=6; IntAct=EBI-712493, EBI-349854; 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 CCDS; CCDS91965.1; -. [P63162-2] 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; 184. DR CORUM; P63162; -. DR IntAct; P63162; 113. DR MINT; P63162; -. DR STRING; 9606.ENSP00000494831; -. DR GlyGen; P63162; 1 site, 1 O-linked glycan (1 site). 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; 9606-ENSP00000382972; -. DR PeptideAtlas; P63162; -. DR ProteomicsDB; 3764; -. DR ProteomicsDB; 57499; -. [P63162-1] DR Pumba; P63162; -. DR Antibodypedia; 22280; 179 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 AGR; HGNC:11164; -. DR AGR; HGNC:11171; -. 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; MGTTKMV; -. DR OrthoDB; 5475294at2759; -. 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 1145 CRISPR screens. DR BioGRID-ORCS; 8926; 5 hits in 1127 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 101 other cell types or tissues. DR ExpressionAtlas; P63162; baseline and differential. 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:0009725; P:response to hormone; IEA:Ensembl. DR GO; GO:0008380; P:RNA splicing; TAS:UniProtKB. DR CDD; cd01717; Sm_B; 1. DR Gene3D; 2.30.30.100; -; 1. DR InterPro; IPR010920; LSM_dom_sf. DR InterPro; IPR047575; Sm. DR InterPro; IPR001163; Sm_dom_euk/arc. DR InterPro; IPR017131; snRNP-assoc_SmB/SmN. DR PANTHER; PTHR10701:SF0; SMALL NUCLEAR RIBONUCLEOPROTEIN-ASSOCIATED PROTEIN B; 1. DR PANTHER; PTHR10701; SMALL NUCLEAR RIBONUCLEOPROTEIN-ASSOCIATED PROTEIN B AND N; 1. DR Pfam; PF01423; LSM; 1. DR PIRSF; PIRSF037187; snRNP_SmB/SmN; 1. DR SMART; SM00651; Sm; 1. DR SUPFAM; SSF50182; Sm-like ribonucleoproteins; 1. DR PROSITE; PS52002; SM; 1. DR Genevisible; P63162; HS. 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 DOMAIN 4..86 FT /note="Sm" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01346" 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 //