LOCUS       NM_003097               1468 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN),
            transcript variant 1, mRNA.
ACCESSION   NM_003097 XM_001716451 XM_943028 XR_245827
VERSION     NM_003097.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1468)
  AUTHORS   Timalsina,B., Choi,H.J. and Moon,I.S.
  TITLE     N-Acetylglucosamine Kinase-Small Nuclear Ribonucleoprotein
            Polypeptide N Interaction Promotes Axodendritic Branching in
            Neurons via Dynein-Mediated Microtubule Transport
  JOURNAL   Int J Mol Sci 24 (14), 11672 (2023)
   PUBMED   37511433
  REMARK    GeneRIF: N-Acetylglucosamine Kinase-Small Nuclear Ribonucleoprotein
            Polypeptide N Interaction Promotes Axodendritic Branching in
            Neurons via Dynein-Mediated Microtubule Transport.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1468)
  AUTHORS   Song,Y., Guo,F., Zhao,Y.Y., Ma,X.J., Wu,L.N., Yu,J.F., Ji,H.F.,
            Shao,M.W., Huang,F.J., Zhao,L., Fan,X.J., Xu,Y.N., Wang,Q.Z. and
            Qin,G.J.
  TITLE     Novel lncRNA-prader willi/angelman region RNA, SNRPN neighbour
            (PWARSN) aggravates tubular epithelial cell pyroptosis by
            regulating TXNIP via dual way in diabetic kidney disease
  JOURNAL   Cell Prolif 56 (2), e13349 (2023)
   PUBMED   36316968
  REMARK    GeneRIF: Novel lncRNA-prader willi/angelman region RNA, SNRPN
            neighbour (PWARSN) aggravates tubular epithelial cell pyroptosis by
            regulating TXNIP via dual way in diabetic kidney disease.
REFERENCE   3  (bases 1 to 1468)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1468)
  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   5  (bases 1 to 1468)
  AUTHORS   Kuslich,C.D., Kobori,J.A., Mohapatra,G., Gregorio-King,C. and
            Donlon,T.A.
  TITLE     Prader-Willi syndrome is caused by disruption of the SNRPN gene
  JOURNAL   Am J Hum Genet 64 (1), 70-76 (1999)
   PUBMED   9915945
REFERENCE   6  (bases 1 to 1468)
  AUTHORS   Reed,M.L. and Leff,S.E.
  TITLE     Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi
            syndrome
  JOURNAL   Nat Genet 6 (2), 163-167 (1994)
   PUBMED   7512861
  REMARK    GeneRIF: SNRPN gene is imprinted, with monoallelic expression from
            the paternal allele in fetal brain and heart, and in adult brain.
REFERENCE   7  (bases 1 to 1468)
  AUTHORS   Glenn,C.C., Porter,K.A., Jong,M.T., Nicholls,R.D. and Driscoll,D.J.
  TITLE     Functional imprinting and epigenetic modification of the human
            SNRPN gene
  JOURNAL   Hum Mol Genet 2 (12), 2001-2005 (1993)
   PUBMED   8111367
REFERENCE   8  (bases 1 to 1468)
  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 1468)
  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 1468)
  AUTHORS   Schmauss,C., Brines,M.L. and Lerner,M.R.
  TITLE     The gene encoding the small nuclear ribonucleoprotein-associated
            protein N is expressed at high levels in neurons
  JOURNAL   J Biol Chem 267 (12), 8521-8529 (1992)
   PUBMED   1533223
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090602.16 and AC124312.5.
            
            On Feb 5, 2020 this sequence version replaced NM_003097.5.
            
            Summary: This gene is located within the Prader-Willi Syndrome
            critical region on chromosome 15 and is imprinted and expressed
            from the paternal allele. It encodes a component of the small
            nuclear ribonucleoprotein complex, which functions in pre-mRNA
            processing and may contribute to tissue-specific alternative
            splicing. Alternative promoter use and alternative splicing result
            in a multitude of transcript variants encoding the same protein.
            Transcript variants that initiate at the CpG island-associated
            imprinting center 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 share exons with this gene. Alterations
            in this region are associated with parental imprint switch failure,
            which may cause Angelman syndrome or Prader-Willi syndrome.
            [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (1) is the predominant splice
            variant and initiates at the imprinting center. This splice variant
            is bicistronic and can also encode the SNURF protein from an
            upstream open reading frame. Variants 1-18 all encode the same
            isoform (b).
            
            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 :: AK098563.1, U41303.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            bicistronic transcript :: PMID: 10318933
            imprinted gene         :: PMID: 7512861
            MANE Ensembl match     :: ENST00000390687.9/ ENSP00000375105.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-76                AC090602.16        174078-174153
            77-172              AC124312.5         143535-143630       c
            173-323             AC124312.5         137662-137812       c
            324-469             AC124312.5         131288-131433       c
            470-621             AC124312.5         130235-130386       c
            622-733             AC124312.5         129328-129439       c
            734-886             AC124312.5         128715-128867       c
            887-1025            AC124312.5         127828-127966       c
            1026-1151           AC124312.5         127426-127551       c
            1152-1468           AC124312.5         127021-127337       c
FEATURES             Location/Qualifiers
     source          1..1468
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     gene            1..1468
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /note="small nuclear ribonucleoprotein polypeptide N"
                     /db_xref="GeneID:6638"
                     /db_xref="HGNC:HGNC:11164"
                     /db_xref="MIM:182279"
     exon            1..76
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /inference="alignment:Splign:2.1.0"
     exon            77..172
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /inference="alignment:Splign:2.1.0"
     exon            173..323
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /inference="alignment:Splign:2.1.0"
     exon            324..469
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /inference="alignment:Splign:2.1.0"
     CDS             467..1189
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /note="isoform b is encoded by transcript variant 1;
                     tissue-specific splicing protein; SM protein N; small
                     nuclear ribonucleoprotein-associated protein N; sm protein
                     D"
                     /codon_start=1
                     /product="small nuclear ribonucleoprotein-associated
                     protein N isoform b"
                     /protein_id="NP_003088.1"
                     /db_xref="CCDS:CCDS10017.1"
                     /db_xref="GeneID:6638"
                     /db_xref="HGNC:HGNC:11164"
                     /db_xref="MIM:182279"
                     /translation="MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCD
                     CDEFRKIKPKNAKQPEREEKRVLGLVLLRGENLVSMTVEGPPPKDTGIARVPLAGAAG
                     GPGVGRAAGRGVPAGVPIPQAPAGLAGPVRGVGGPSQQVMTPQGRGTVAAAAVAATAS
                     IAGAPTQYPPGRGTPPPPVGRATPPPGIMAPPPGMRPPMGPPIGLPPARGTPIGMPPP
                     GMRPPPPGIRGPPPPGMRPPRP"
     exon            470..621
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /inference="alignment:Splign:2.1.0"
     exon            622..733
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /inference="alignment:Splign:2.1.0"
     exon            734..886
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /inference="alignment:Splign:2.1.0"
     exon            887..1025
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1151
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1468
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1300..1305
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /note="hexamer: AATAAA"
     regulatory      1317..1322
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /note="hexamer: ATTAAA"
     polyA_site      1328
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /note="major polyA site"
     polyA_site      1340
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
     regulatory      1444..1449
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /note="hexamer: GATAAA"
     polyA_site      1468
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
ORIGIN      
        1 gcagagtgga gcggccgccg gagatgcctg acgcatctgt ctgaggagcg gtcagtgacg
       61 cgatggagcg ggcaagggat cgcttacacc tgagacgaac tacagaacag cacgtaccag
      121 aggtggaagt ccaagtcaaa cgcagaagga ctgcctcact gagcaaccaa gagtgtcagt
      181 tgtacccgag gcgttctcag cagcagcaag tacctgtggt ggatttccag gctgaactga
      241 ggcaggcatt cttagctgag acaccaagag gtggttaaag ccatattgga gtagcgagga
      301 atctgattcc aagcaaaaac caggctccat ctactctttg aagcttctgc ccagcttgca
      361 ttgtttctag gagaacctgc gtcatacctt tatctatagc cttcccctag gtcttcagaa
      421 gcatcaagtt ttaactgtgg acattggatt tggtggaaca gcaatcatga ctgttggcaa
      481 gagtagcaag atgctgcagc acattgacta tagaatgaga tgtatcctgc aagatggccg
      541 aatcttcatt ggcaccttta aggcttttga caagcatatg aatttgatcc tctgtgattg
      601 tgatgagttc agaaagatca agccaaagaa tgcgaagcaa ccagagcgtg aagaaaagcg
      661 ggttttgggt ctggtgttgc tgcgtgggga gaacttggta tccatgactg tggaggggcc
      721 accccccaaa gatactggca ttgctcgggt accacttgct ggagctgctg gaggccctgg
      781 ggttggtagg gcagctggta gaggagtacc agctggtgtg ccaattcccc aggcccctgc
      841 tggattggca ggccctgtcc gaggagttgg gggaccatcc cagcaggtaa tgactccaca
      901 gggaagaggc actgtagcag ctgctgctgt tgctgcgact gccagtattg ctggagcccc
      961 aacacagtac ccaccaggac ggggcactcc gcccccaccc gtcggcagag caaccccacc
     1021 tccaggcatt atggctcctc cacctggtat gagaccaccc atgggcccac caattgggct
     1081 tccccctgct cgagggacgc caataggcat gccgcctccg ggaatgagac cccctccacc
     1141 aggcattaga ggtccacctc ccccaggaat gcgtccacca agaccttagc atactgttga
     1201 tccatctcag tcactttttc ccctgcaatg cgtcttgtga aattgtgtag agtgtttgtg
     1261 agctttttgt tccctcattc tgcattaata atagctaata ataaatgcat agagcaatta
     1321 aactgtgagg tactgttgta tatatttttt tgcctgttga ttttgatgag atcttaagtt
     1381 actgtggatg agggtgatgc ctattaagca gttgattcaa atcatattct ctttaattct
     1441 taggataaaa aggttttctg ctatctaa
//
