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Small nuclear ribonucleoprotein-associated protein N (snRNP-N) (Sm protein D) (Sm-D) (Sm protein N) (Sm-N) (SmN) (Tissue-specific-splicing protein)

 RSMN_HUMAN              Reviewed;         240 AA.
P63162; B3KVR1; P14648; P17135; Q0D2Q5;
27-SEP-2004, integrated into UniProtKB/Swiss-Prot.
27-SEP-2004, sequence version 1.
12-SEP-2018, entry version 152.
RecName: Full=Small nuclear ribonucleoprotein-associated protein N;
Short=snRNP-N;
AltName: Full=Sm protein D;
Short=Sm-D;
AltName: Full=Sm protein N;
Short=Sm-N;
Short=SmN;
AltName: Full=Tissue-specific-splicing protein;
Name=SNRPN; Synonyms=HCERN3, SMN;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Cerebellum;
PubMed=2522186; DOI=10.1093/nar/17.4.1733;
Schmauss C., McAllister G., Ohosone Y., Hardin J.A., Lerner M.R.;
"A comparison of snRNP-associated Sm-autoantigens: human N, rat N and
human B/B'.";
Nucleic Acids Res. 17:1733-1743(1989).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND PARTIAL PROTEIN SEQUENCE.
PubMed=2522449;
Rokeach L.A., Jannatipour M., Haselby J.A., Hoch S.O.;
"Primary structure of a human small nuclear ribonucleoprotein
polypeptide as deduced by cDNA analysis.";
J. Biol. Chem. 264:5024-5030(1989).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=2528429;
Renz M., Heim C., Braeunling O., Czichos A., Wieland C., Seelig H.P.;
"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.";
Clin. Chem. 35:1861-1863(1989).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=8571960;
Glenn C.C., Saitoh S., Jong M.T., Filbrandt M.M., Surti U.,
Driscoll D.J., Nicholls R.D.;
"Gene structure, DNA methylation, and imprinted expression of the
human SNRPN gene.";
Am. J. Hum. Genet. 58:335-346(1996).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Feng Z., Zhang B., Peng X., Yuan J., Qiang B.;
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Cerebellum;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
"Cloning of human full open reading frames in Gateway(TM) system entry
vector (pDONR201).";
Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16572171; DOI=10.1038/nature04601;
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.;
"Analysis of the DNA sequence and duplication history of human
chromosome 15.";
Nature 440:671-675(2006).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain, Kidney, and Uterus;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-140 (ISOFORM 1).
PubMed=8363612; DOI=10.1006/bbrc.1993.2047;
Esposito F., Fiore F., Cimino F., Russo T.;
"Isolation and structural characterization of the rat gene encoding
the brain specific snRNP-associated polypeptide 'N'.";
Biochem. Biophys. Res. Commun. 195:317-326(1993).
[11]
NUCLEOTIDE SEQUENCE [MRNA] OF 23-218 (ISOFORM 1).
PubMed=2753153; DOI=10.1016/0014-5793(89)80801-4;
Sharpe N.G., Williams D.G., Howarth D.N., Coles B., Latchman D.S.;
"Isolation of cDNA clones encoding the human Sm B/B' auto-immune
antigen and specifically reacting with human anti-Sm auto-immune
sera.";
FEBS Lett. 250:585-590(1989).
[12]
TISSUE SPECIFICITY.
PubMed=10318933; DOI=10.1073/pnas.96.10.5616;
Gray T.A., Saitoh S., Nicholls R.D.;
"An imprinted, mammalian bicistronic transcript encodes two
independent proteins.";
Proc. Natl. Acad. Sci. U.S.A. 96:5616-5621(1999).
[13]
INTERACTION WITH TDRD3.
PubMed=15955813; DOI=10.1074/jbc.M414328200;
Cote J., Richard S.;
"Tudor domains bind symmetrical dimethylated arginines.";
J. Biol. Chem. 280:28476-28483(2005).
[14]
METHYLATION [LARGE SCALE ANALYSIS] AT ARG-172, AND IDENTIFICATION BY
MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Colon carcinoma;
PubMed=24129315; DOI=10.1074/mcp.O113.027870;
Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V.,
Aguiar M., Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C.,
Vemulapalli V., Bedford M.T., Comb M.J.;
"Immunoaffinity enrichment and mass spectrometry analysis of protein
methylation.";
Mol. Cell. Proteomics 13:372-387(2014).
-!- FUNCTION: May be involved in tissue-specific alternative RNA
processing events.
-!- SUBUNIT: Interacts with TDRD3. {ECO:0000269|PubMed:15955813}.
-!- SUBCELLULAR LOCATION: Nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P63162-1; Sequence=Displayed;
Name=2;
IsoId=P63162-2; Sequence=VSP_056488;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Expressed in brain and lymphoblasts.
{ECO:0000269|PubMed:10318933}.
-!- MISCELLANEOUS: Encoded on a bicistronic transcript that code for
two proteins, SNRPN and SNURF.
-!- MISCELLANEOUS: 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.
-!- SIMILARITY: Belongs to the snRNP SmB/SmN family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; X15892; CAA33901.1; -; mRNA.
EMBL; J04615; AAA36617.1; -; mRNA.
EMBL; U41303; AAA98969.1; -; mRNA.
EMBL; AF400432; AAK92481.1; -; mRNA.
EMBL; AK123119; BAG53873.1; -; mRNA.
EMBL; CR450350; CAG29346.1; -; mRNA.
EMBL; AC090602; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC090983; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC124312; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC000611; AAH00611.1; -; mRNA.
EMBL; BC003180; AAH03180.1; -; mRNA.
EMBL; BC024777; AAH24777.1; -; mRNA.
EMBL; BC025178; AAH25178.1; -; mRNA.
CCDS; CCDS10017.1; -. [P63162-1]
PIR; A33270; A33270.
RefSeq; NP_003088.1; NM_003097.4. [P63162-1]
RefSeq; NP_005669.2; NM_005678.4.
RefSeq; NP_073716.1; NM_022805.3. [P63162-1]
RefSeq; NP_073717.1; NM_022806.3. [P63162-1]
RefSeq; NP_073718.1; NM_022807.3. [P63162-1]
RefSeq; NP_073719.1; NM_022808.3. [P63162-1]
UniGene; Hs.564847; -.
PDB; 5MF9; NMR; -; B=219-225.
PDBsum; 5MF9; -.
ProteinModelPortal; P63162; -.
SMR; P63162; -.
BioGrid; 112522; 117.
CORUM; P63162; -.
IntAct; P63162; 12.
MINT; P63162; -.
STRING; 9606.ENSP00000306223; -.
iPTMnet; P63162; -.
PhosphoSitePlus; P63162; -.
SwissPalm; P63162; -.
BioMuta; SNRPN; -.
DMDM; 52783794; -.
EPD; P63162; -.
PaxDb; P63162; -.
PeptideAtlas; P63162; -.
PRIDE; P63162; -.
ProteomicsDB; 57499; -.
DNASU; 6638; -.
Ensembl; ENST00000346403; ENSP00000306223; ENSG00000128739. [P63162-1]
Ensembl; ENST00000390687; ENSP00000375105; ENSG00000128739. [P63162-1]
Ensembl; ENST00000400097; ENSP00000382969; ENSG00000128739. [P63162-1]
Ensembl; ENST00000400100; ENSP00000382972; ENSG00000128739. [P63162-1]
Ensembl; ENST00000554227; ENSP00000452342; ENSG00000128739. [P63162-2]
Ensembl; ENST00000577565; ENSP00000463458; ENSG00000128739. [P63162-1]
Ensembl; ENST00000642807; ENSP00000495345; ENSG00000128739. [P63162-1]
Ensembl; ENST00000645002; ENSP00000494831; ENSG00000128739. [P63162-1]
GeneID; 6638; -.
GeneID; 8926; -.
KEGG; hsa:6638; -.
KEGG; hsa:8926; -.
UCSC; uc059gty.1; human. [P63162-1]
CTD; 6638; -.
CTD; 8926; -.
DisGeNET; 6638; -.
DisGeNET; 8926; -.
EuPathDB; HostDB:ENSG00000128739.21; -.
GeneCards; SNRPN; -.
GeneReviews; SNRPN; -.
HGNC; HGNC:11164; SNRPN.
HPA; HPA003482; -.
HPA; HPA067842; -.
MalaCards; SNRPN; -.
MIM; 182279; gene.
neXtProt; NX_P63162; -.
OpenTargets; ENSG00000128739; -.
Orphanet; 72; Angelman syndrome.
Orphanet; 177910; Prader-Willi syndrome due to imprinting mutation.
Orphanet; 98754; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15.
Orphanet; 177901; Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
Orphanet; 177904; Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2.
Orphanet; 177907; Prader-Willi syndrome due to translocation.
PharmGKB; PA36005; -.
eggNOG; KOG3168; Eukaryota.
eggNOG; COG1958; LUCA.
GeneTree; ENSGT00670000098029; -.
HOGENOM; HOG000188899; -.
HOVERGEN; HBG001019; -.
InParanoid; P63162; -.
KO; K11100; -.
OMA; HHTFICS; -.
OrthoDB; EOG091G0Y7H; -.
PhylomeDB; P63162; -.
TreeFam; TF314232; -.
Reactome; R-HSA-72163; mRNA Splicing - Major Pathway.
SIGNOR; P63162; -.
ChiTaRS; SNRPN; human.
GeneWiki; Small_nuclear_ribonucleoprotein_polypeptide_N; -.
GenomeRNAi; 6638; -.
PRO; PR:P63162; -.
Proteomes; UP000005640; Chromosome 15.
Bgee; ENSG00000128739; Expressed in 232 organ(s), highest expression level in cerebellum.
CleanEx; HS_SNRPN; -.
ExpressionAtlas; P63162; baseline and differential.
Genevisible; P63162; HS.
GO; GO:0071013; C:catalytic step 2 spliceosome; IBA:GO_Central.
GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0030532; C:small nuclear ribonucleoprotein complex; TAS:UniProtKB.
GO; GO:0005681; C:spliceosomal complex; TAS:UniProtKB.
GO; GO:0005685; C:U1 snRNP; IBA:GO_Central.
GO; GO:0005686; C:U2 snRNP; IBA:GO_Central.
GO; GO:0071004; C:U2-type prespliceosome; IBA:GO_Central.
GO; GO:0005687; C:U4 snRNP; IBA:GO_Central.
GO; GO:0046540; C:U4/U6 x U5 tri-snRNP complex; IBA:GO_Central.
GO; GO:0005682; C:U5 snRNP; IBA:GO_Central.
GO; GO:0003723; F:RNA binding; IBA:GO_Central.
GO; GO:0000398; P:mRNA splicing, via spliceosome; IBA:GO_Central.
GO; GO:0008380; P:RNA splicing; TAS:UniProtKB.
InterPro; IPR001163; LSM_dom_euk/arc.
InterPro; IPR010920; LSM_dom_sf.
InterPro; IPR017131; snRNP-assoc_SmB/SmN.
Pfam; PF01423; LSM; 1.
PIRSF; PIRSF037187; snRNP_SmB/SmN; 1.
SMART; SM00651; Sm; 1.
SUPFAM; SSF50182; SSF50182; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome;
Direct protein sequencing; Methylation; Nucleus; Reference proteome;
Repeat; Ribonucleoprotein; RNA-binding.
CHAIN 1 240 Small nuclear ribonucleoprotein-
associated protein N.
/FTId=PRO_0000125523.
REPEAT 175 181
REPEAT 191 196
REPEAT 216 221
REPEAT 222 228
REPEAT 230 236
REGION 175 236 Repeat-rich region.
MOD_RES 108 108 Asymmetric dimethylarginine; alternate.
{ECO:0000250|UniProtKB:P14678}.
MOD_RES 108 108 Dimethylated arginine; alternate.
{ECO:0000250|UniProtKB:P14678}.
MOD_RES 108 108 Omega-N-methylarginine; alternate.
{ECO:0000250|UniProtKB:P63163}.
MOD_RES 112 112 Asymmetric dimethylarginine; alternate.
{ECO:0000250|UniProtKB:P14678}.
MOD_RES 112 112 Dimethylated arginine; alternate.
{ECO:0000250|UniProtKB:P14678}.
MOD_RES 112 112 Omega-N-methylarginine; alternate.
{ECO:0000250|UniProtKB:P14678}.
MOD_RES 147 147 Omega-N-methylarginine.
{ECO:0000250|UniProtKB:P14678}.
MOD_RES 172 172 Omega-N-methylarginine.
{ECO:0000244|PubMed:24129315}.
VAR_SEQ 1 1 M -> MMDSQ (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_056488.
CONFLICT 43 44 Missing (in Ref. 10). {ECO:0000305}.
CONFLICT 75 75 E -> Q (in Ref. 10). {ECO:0000305}.
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


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