LOCUS       NM_013670               2041 bp    mRNA    linear   ROD 26-JUN-2024
DEFINITION  Mus musculus small nuclear ribonucleoprotein N (Snrpn), transcript
            variant 1, mRNA.
ACCESSION   NM_013670
VERSION     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  (bases 1 to 2041)
  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  (bases 1 to 2041)
  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  (bases 1 to 2041)
  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  (bases 1 to 2041)
  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  (bases 1 to 2041)
  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  (bases 1 to 2041)
  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  (bases 1 to 2041)
  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  (bases 1 to 2041)
  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  (bases 1 to 2041)
  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 (bases 1 to 2041)
  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.
            
            On Mar 24, 2017 this sequence version replaced NM_013670.3.
            
            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##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-88                BY265277.1         2-89
            89-546              AK144386.1         2-459
            547-1397            AK013607.1         461-1311
            1398-1410           BU708754.1         558-570
            1411-2013           AK144386.1         1324-1926
            2014-2015           AC172750.1         125181-125182       c
            2016-2041           CB523964.1         465-490
FEATURES             Location/Qualifiers
     source          1..2041
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 34.04 cM"
     gene            1..2041
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /note="small nuclear ribonucleoprotein N"
                     /db_xref="GeneID:20646"
                     /db_xref="MGI:MGI:98347"
     exon            1..164
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /inference="alignment:Splign:2.1.0"
     exon            165..260
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /inference="alignment:Splign:2.1.0"
     exon            261..409
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /inference="alignment:Splign:2.1.0"
     exon            410..555
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /inference="alignment:Splign:2.1.0"
     CDS             553..1275
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /note="sm protein N; tissue-specific-splicing protein; sm
                     protein D"
                     /codon_start=1
                     /product="small nuclear ribonucleoprotein-associated
                     protein N"
                     /protein_id="NP_038698.1"
                     /db_xref="CCDS:CCDS39974.1"
                     /db_xref="GeneID:20646"
                     /db_xref="MGI:MGI:98347"
                     /translation="MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCD
                     CDEFRKIKPKNAKQPEREEKRVLGLVLLRGENLVSMTVEGPPPKDTGIARVPLAGAAG
                     GPGVGRAAGRGVPAGVPIPQAPAGLAGPVRGVGGPSQQVMTPQGRGTVAAAAVAATAS
                     IAGAPTQYPPGRGTPPPPVGRATPPPGIMAPPPGMRPPMGPPIGLPPARGTPIGMPPP
                     GMRPPPPGIRGPPPPGMRPPRP"
     exon            556..707
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /inference="alignment:Splign:2.1.0"
     exon            708..819
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /inference="alignment:Splign:2.1.0"
     exon            820..972
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1111
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1237
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..2020
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1383..1388
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /note="hexamer: AATACA"
     polyA_site      1401
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /note="major polyA site"
     polyA_site      1452
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
     regulatory      1996..2001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
                     /note="hexamer: TATAAA"
     polyA_site      2015
                     /gene="Snrpn"
                     /gene_synonym="2410045I01Rik; HCERN3; Peg4; sm-D; SMN;
                     snRNP-N"
ORIGIN      
        1 ggcaaaaatg tgcgcatgtg cagccattgc ctgggacgca tgcgtaggga gccgcgcgac
       61 aaacctgagc cattgcggca agactagcgc agagaggaga gggagccgga gatgccagac
      121 gcttggttct gaggagtgat ttgcaacgca atggagcgag gaagggatcg cttacacttg
      181 agaagaacta ctgaacagca cgtgcccgag gtcgaggtcc aggtcaaacg tcgaaggaca
      241 gcctcactga gcaaccaaga gtgtcacttg tacccacgac gttctcagca acagcaagtt
      301 cctgtggtgg atttccaggc agaactaaga caggcattct tagctgagac accaagaggt
      361 ggttaaagca gtattgcaac ttcaaggtgg tggaattcaa ggaaaacagg acccatcctc
      421 tgtctgtgaa actttggtca agcttacatt gtttgttaat agcctgcatc gaacctttat
      481 ttatatccct tccccgagta ttaaggatct tgaaatttta gtgttgacaa cggctattgt
      541 ggaacagcaa tcatgactgt gggtaagagt agcaagatgc tgcagcacat tgactatagg
      601 atgagatgta tcctgcaaga tgggagaatc ttcattggca ccttcaaggc ttttgacaag
      661 catatgaatt tgatcctctg tgattgtgat gagttcagga agatcaagcc aaagaatgca
      721 aaacagccag aacgtgaaga aaaacgggtt ttgggtctgg tcttgctacg tggggagaac
      781 ttggtttcaa tgactgtgga gggcccacct cctaaagata ctggcattgc tcgtgtgcct
      841 cttgctggcg ctgcaggtgg ccctggggtt ggaagagcag ctggcagagg agtgccagca
      901 ggtgtaccta ttccccaggc tcctgctgga ttagcaggcc ctgtcagagg agttggaggc
      961 ccatcccagc aggtcatgac cccacaggga agaggcactg ttgcagctgc tgctgttgct
     1021 gctactgcta gcattgcagg agccccaacc cagtacccgc caggacgggg aactccacct
     1081 ccacctgtag gcagagcaac cccacctcca ggcattatgg ctcctccacc tggtatgaga
     1141 ccacccatgg gcccacccat tgggcttccc cctgctcgtg ggacacctat aggcatgcct
     1201 cctccaggaa tgagaccccc tccaccagga attagaggcc cacctccccc aggaatgcgc
     1261 ccaccaagac cctaagatac agttgataaa tctcagccct tctcttcccc tacaatgctt
     1321 cttgtgaaat tgtgtacctg caagcttttt gacccctctt actgcattaa ctatagataa
     1381 taaatacata gagcaattca attggggttt ttctttgtct gctgattttg ttaaagttag
     1441 agtgaaacca aatgtgtttc agtggtgaaa ttattgttaa agattactat attaagttta
     1501 tattaactaa acacagatat gacatttgct caagctaggt tcttaggatc agatagttga
     1561 aatattttcc tgatttctga cattcacttc aagcattggt tcaaaatctt acagataagg
     1621 aaaatcaaga tccatttgct aagatttaca agccattccg gttcaattaa atatgtttca
     1681 cttaaaggtg tgtgaagata tttaagcaga tatttaaatt cacatcattt atggcactgg
     1741 tatgtcatta ttgcttatga attaaaacat ggaatgcaag gtattttcca atcttccaaa
     1801 catgctctat tacttagcag tctataatta tgtttacaac tatacataca tccatataca
     1861 cacatacaca tgcattccat gcatgcatgc gcacacacac acacacacac acacacagac
     1921 atctatcatg tactgggtct attttggttt tagtttgtac atttgtttag gtgcattaat
     1981 tggtattaaa taaattataa aatgattttc ctgaagaaga aaaaaaaaaa aaaaaaaaaa
     2041 a
//
