LOCUS       NP_038698                240 aa            linear   ROD 26-JUN-2024
DEFINITION  small nuclear ribonucleoprotein-associated protein N [Mus
            musculus].
ACCESSION   NP_038698
VERSION     NP_038698.1
DBSOURCE    REFSEQ: accession NM_013670.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 240)
  AUTHORS   Bhalla,K., Rosier,K., Monnens,Y., Meulemans,S., Vervoort,E.,
            Thorrez,L., Agostinis,P., Meier,D.T., Rochtus,A., Resnick,J.L. and
            Creemers,J.W.M.
  TITLE     Similar metabolic pathways are affected in both Congenital
            Myasthenic Syndrome-22 and Prader-Willi Syndrome
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (5), 167175 (2024)
   PUBMED   38626828
REFERENCE   2  (residues 1 to 240)
  AUTHORS   Jiang,W., Shi,J., Zhao,J., Wang,Q., Cong,D., Chen,F., Zhang,Y.,
            Liu,Y., Zhao,J., Chen,Q., Gu,L., Zhou,W., Wang,C., Fang,Z.,
            Geng,S., Xie,W., Chen,L.N., Yang,Y., Bai,Y., Lin,H. and Li,X.
  TITLE     ZFP57 dictates allelic expression switch of target imprinted genes
  JOURNAL   Proc Natl Acad Sci U S A 118 (5) (2021)
   PUBMED   33500348
REFERENCE   3  (residues 1 to 240)
  AUTHORS   Welden,J.R., Zhang,Z., Duncan,M.J., Falaleeva,M., Wells,T. and
            Stamm,S.
  TITLE     The posterior pituitary expresses the serotonin receptor 2C
  JOURNAL   Neurosci Lett 684, 132-139 (2018)
   PUBMED   29969651
REFERENCE   4  (residues 1 to 240)
  AUTHORS   Marjonen,H., Toivonen,M., Lahti,L. and Kaminen-Ahola,N.
  TITLE     Early prenatal alcohol exposure alters imprinted gene expression in
            placenta and embryo in a mouse model
  JOURNAL   PLoS One 13 (5), e0197461 (2018)
   PUBMED   29763474
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 240)
  AUTHORS   Gray,T.A., Saitoh,S. and Nicholls,R.D.
  TITLE     An imprinted, mammalian bicistronic transcript encodes two
            independent proteins
  JOURNAL   Proc Natl Acad Sci U S A 96 (10), 5616-5621 (1999)
   PUBMED   10318933
REFERENCE   6  (residues 1 to 240)
  AUTHORS   Shemer,R., Birger,Y., Riggs,A.D. and Razin,A.
  TITLE     Structure of the imprinted mouse Snrpn gene and establishment of
            its parental-specific methylation pattern
  JOURNAL   Proc Natl Acad Sci U S A 94 (19), 10267-10272 (1997)
   PUBMED   9294199
  REMARK    GeneRIF: Snrpn gene is imprinted, with monoallelic expression from
            the paternal allele in brain and heart.
REFERENCE   7  (residues 1 to 240)
  AUTHORS   Cattanach,B.M., Barr,J.A., Evans,E.P., Burtenshaw,M., Beechey,C.V.,
            Leff,S.E., Brannan,C.I., Copeland,N.G., Jenkins,N.A. and Jones,J.
  TITLE     A candidate mouse model for Prader-Willi syndrome which shows an
            absence of Snrpn expression
  JOURNAL   Nat Genet 2 (4), 270-274 (1992)
   PUBMED   1303278
REFERENCE   8  (residues 1 to 240)
  AUTHORS   Ozcelik,T., Leff,S., Robinson,W., Donlon,T., Lalande,M.,
            Sanjines,E., Schinzel,A. and Francke,U.
  TITLE     Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed
            gene in the Prader-Willi syndrome critical region
  JOURNAL   Nat Genet 2 (4), 265-269 (1992)
   PUBMED   1303277
REFERENCE   9  (residues 1 to 240)
  AUTHORS   Leff,S.E., Brannan,C.I., Reed,M.L., Ozcelik,T., Francke,U.,
            Copeland,N.G. and Jenkins,N.A.
  TITLE     Maternal imprinting of the mouse Snrpn gene and conserved linkage
            homology with the human Prader-Willi syndrome region
  JOURNAL   Nat Genet 2 (4), 259-264 (1992)
   PUBMED   1303276
REFERENCE   10 (residues 1 to 240)
  AUTHORS   Grimaldi,K., Gerrelli,D., Sharpe,N.G., Lund,T. and Latchman,D.S.
  TITLE     The intronless mouse gene for the tissue specific splicing protein
            SmN is a processed pseudogene containing a stop codon after
            thirty-one amino acids
  JOURNAL   DNA Seq 2 (4), 241-246 (1992)
   PUBMED   1627828
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BY265277.1, AK144386.1,
            AK013607.1, BU708754.1, AC172750.1 and CB523964.1.
            
            Summary: This locus represents a paternally-expressed imprinted
            gene that encodes a component of the small nuclear
            ribonucleoprotein complex, which functions in pre-mRNA processing.
            Genomic and genetic changes in this region result in growth defects
            and lethality; the corresponding region in human is the critical
            region for Prader-Willi Syndrome. Alternative promoter use and
            alternative splicing result in a multitude of transcript variants
            encoding the same protein. Transcript variants may be bicistronic
            and also encode the SNRPN upstream reading frame protein (Snurf)
            from an upstream open reading frame. In addition, long spliced
            transcripts for small nucleolar RNA host gene 14 (Snhg14) may
            originate from the promoters at this locus and incorporate exons
            shared with this gene. [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (1) represents the predominant
            variant. This splice variant is bicistronic and can also encode the
            Snurf protein from an upstream open reading frame.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK144386.1, BC019589.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164141 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            bicistronic transcript :: PMID: 10318933
            imprinted gene         :: PMID: 9294199
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 34.04 cM"
     Protein         1..240
                     /product="small nuclear ribonucleoprotein-associated
                     protein N"
                     /note="sm protein N; tissue-specific-splicing protein; sm
                     protein D"
                     /calculated_mol_wt=24483
     Region          5..83
                     /region_name="Sm_B"
                     /note="Sm protein B; cd01717"
                     /db_xref="CDD:212464"
     Site            order(8,14,22..23,32,36,43..44,69..82)
                     /site_type="other"
                     /note="heptamer interface [polypeptide binding]"
                     /db_xref="CDD:212464"
     Site            order(17..23,25..37,39..43)
                     /site_type="other"
                     /note="Sm1 motif"
                     /db_xref="CDD:212464"
     Site            order(20..25,27,33..34,37,39,41,60,65,67,69..79)
                     /site_type="other"
                     /note="putative hexamer interface [polypeptide binding]"
                     /db_xref="CDD:212464"
     Site            order(36..39,49,59..61,73,75)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:212464"
     Site            69..80
                     /site_type="other"
                     /note="Sm2 motif"
                     /db_xref="CDD:212464"
     Site            108
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678; Dimethylated
                     arginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P63163.1)"
     Site            112
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678; Dimethylated
                     arginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678; propagated from
                     UniProtKB/Swiss-Prot (P63163.1)"
     Site            147
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P14678; propagated from
                     UniProtKB/Swiss-Prot (P63163.1)"
     Region          163..240
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P63163.1)"
     Site            172
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P63163.1)"
     Region          175..236
                     /region_name="Repeat-rich region"
                     /note="propagated from UniProtKB/Swiss-Prot (P63163.1)"
     CDS             1..240
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /coded_by="NM_013670.4:553..1275"
                     /db_xref="CCDS:CCDS39974.1"
                     /db_xref="GeneID:20646"
                     /db_xref="MGI:MGI:98347"
ORIGIN      
        1 mtvgksskml qhidyrmrci lqdgrifigt fkafdkhmnl ilcdcdefrk ikpknakqpe
       61 reekrvlglv llrgenlvsm tvegpppkdt giarvplaga aggpgvgraa grgvpagvpi
      121 pqapaglagp vrgvggpsqq vmtpqgrgtv aaaavaatas iagaptqypp grgtppppvg
      181 ratpppgima pppgmrppmg ppiglpparg tpigmpppgm rppppgirgp pppgmrpprp
//
