LOCUS       NM_001394334            1062 bp    mRNA    linear   PRI 12-JUN-2024
DEFINITION  Homo sapiens SNRPN upstream open reading frame (SNURF), transcript
            variant 3, mRNA.
ACCESSION   NM_001394334
VERSION     NM_001394334.1
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 1062)
  AUTHORS   Cao,Y., AlHumaidi,S.S., Faqeih,E.A., Pitel,B.A., Lundquist,P. and
            Aypar,U.
  TITLE     A novel deletion of SNURF/SNRPN exon 1 in a patient with
            Prader-Willi-like phenotype
  JOURNAL   Eur J Med Genet 60 (8), 416-420 (2017)
   PUBMED   28554868
  REMARK    GeneRIF: A de novo 6.4 kb deletion at 15q11.2, containing exon 1 of
            the SNURF gene and exon 1 of the shortest isoform of the SNRPN gene
            was identified in a patient with Prader-Willi-like phenotype.  DNA
            methylation analysis confirmed the paternal origin of the deletion.
REFERENCE   2  (bases 1 to 1062)
  AUTHORS   Hassan,M. and Butler,M.G.
  TITLE     Prader-Willi syndrome and atypical submicroscopic 15q11-q13
            deletions with or without imprinting defects
  JOURNAL   Eur J Med Genet 59 (11), 584-589 (2016)
   PUBMED   27659713
REFERENCE   3  (bases 1 to 1062)
  AUTHORS   Anderlid,B.M., Lundin,J., Malmgren,H., Lehtihet,M. and Nordgren,A.
  TITLE     Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN
            results in an atypical Prader-Willi syndrome phenotype
  JOURNAL   Am J Med Genet A 164A (2), 425-431 (2014)
   PUBMED   24311433
  REMARK    Review article
REFERENCE   4  (bases 1 to 1062)
  AUTHORS   Izzi,B., Francois,I., Labarque,V., Thys,C., Wittevrongel,C.,
            Devriendt,K., Legius,E., Van den Bruel,A., D'Hooghe,M.,
            Lambrechts,D., de Zegher,F., Van Geet,C. and Freson,K.
  TITLE     Methylation defect in imprinted genes detected in patients with an
            Albright's hereditary osteodystrophy like phenotype and platelet Gs
            hypofunction
  JOURNAL   PLoS One 7 (6), e38579 (2012)
   PUBMED   22679513
  REMARK    GeneRIF: significant IGF2 hypermethylation (20 +/- 10 vs. 14 +/-
            7%; p<0.05) and SNURF hypomethylation (23 +/- 6 vs. 32 6%; p<0.001)
            was found in Albright's hereditary osteodystrophy patients vs.
            controls.
REFERENCE   5  (bases 1 to 1062)
  AUTHORS   Sinnema,M., Einfeld,S.L., Schrander-Stumpel,C.T., Maaskant,M.A.,
            Boer,H. and Curfs,L.M.
  TITLE     Behavioral phenotype in adults with Prader-Willi syndrome
  JOURNAL   Res Dev Disabil 32 (2), 604-612 (2011)
   PUBMED   21227640
  REMARK    GeneRIF: Differences between genetic subtypes were also
            statistically significant in Prader Willi syndrome
REFERENCE   6  (bases 1 to 1062)
  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   7  (bases 1 to 1062)
  AUTHORS   Renz,M., Heim,C., Braunling,O., Czichos,A., Wieland,C. and
            Seelig,H.P.
  TITLE     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
  JOURNAL   Clin Chem 35 (9), 1861-1863 (1989)
   PUBMED   2528429
REFERENCE   8  (bases 1 to 1062)
  AUTHORS   Sharpe,N.G., Williams,D.G., Howarth,D.N., Coles,B. and
            Latchman,D.S.
  TITLE     Isolation of cDNA clones encoding the human Sm B/B' auto-immune
            antigen and specifically reacting with human anti-Sm auto-immune
            sera
  JOURNAL   FEBS Lett 250 (2), 585-590 (1989)
   PUBMED   2753153
REFERENCE   9  (bases 1 to 1062)
  AUTHORS   Rokeach,L.A., Jannatipour,M., Haselby,J.A. and Hoch,S.O.
  TITLE     Primary structure of a human small nuclear ribonucleoprotein
            polypeptide as deduced by cDNA analysis
  JOURNAL   J Biol Chem 264 (9), 5024-5030 (1989)
   PUBMED   2522449
REFERENCE   10 (bases 1 to 1062)
  AUTHORS   Schmauss,C., McAllister,G., Ohosone,Y., Hardin,J.A. and Lerner,M.R.
  TITLE     A comparison of snRNP-associated Sm-autoantigens: human N, rat N
            and human B/B'
  JOURNAL   Nucleic Acids Res 17 (4), 1733-1743 (1989)
   PUBMED   2522186
  REMARK    Erratum:[Nucleic Acids Res 1989 Aug 25;17(16):6777]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090602.16 and AC124312.5.
            
            Summary: This gene is located within the Prader-Willi Syndrome
            critical region on chromosome 15. Transcripts produced from this
            gene initiate at an imprinting center and are paternally-imprinted.
            These transcripts may be bicistronic and also encode SNRPN (small
            nuclear ribonucleoprotein polypeptide N) from a downstream open
            reading frame. The small protein represented by this gene is
            encoded by an evolutionarily-conserved upstream open reading frame
            and is localized to the nucleus. Extensive alternative splicing and
            promoter usage occurs in this region and the full-length nature of
            some of these transcripts has not been determined. Alterations in
            the imprinting center are associated with parental imprint switch
            failure, which may cause Angelman syndrome or Prader-Willi
            syndrome. [provided by RefSeq, Mar 2017].
            
            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 :: SRR14372080.2798586.1, CA771388.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 10318933
            MANE Ensembl match     :: ENST00000577949.6/ ENSP00000463201.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-76                AC090602.16        174078-174153
            77-172              AC124312.5         143535-143630       c
            173-1062            AC124312.5         136923-137812       c
FEATURES             Location/Qualifiers
     source          1..1062
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     gene            1..1062
                     /gene="SNURF"
                     /note="SNRPN upstream open reading frame"
                     /db_xref="GeneID:8926"
                     /db_xref="HGNC:HGNC:11171"
     exon            1..76
                     /gene="SNURF"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..278
                     /gene="SNURF"
                     /codon_start=1
                     /product="SNRPN upstream reading frame protein"
                     /protein_id="NP_001381263.1"
                     /db_xref="CCDS:CCDS10016.1"
                     /db_xref="GeneID:8926"
                     /db_xref="HGNC:HGNC:11171"
                     /translation="MERARDRLHLRRTTEQHVPEVEVQVKRRRTASLSNQECQLYPRR
                     SQQQQVPVVDFQAELRQAFLAETPRGG"
     exon            77..172
                     /gene="SNURF"
                     /inference="alignment:Splign:2.1.0"
     exon            173..1062
                     /gene="SNURF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1043..1048
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNURF"
                     /note="hexamer: AATAAA"
     polyA_site      1062
                     /gene="SNURF"
                     /note="major polyA site"
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 caggttagag ctaatgcagc aatgatcaag aataaagaat
      361 cattaaagaa tggggtgttg ggggttctct taattatcag tgacacatta atttttttcc
      421 ttagagcttc atacaataaa cacattgcag aaagttttag aaagttttgc aggaccttaa
      481 attttctgcc ctgacacttt cgtcatgttt ctgtattcca gttattgtag cgcatgcttt
      541 tcaggtagtt ttcttttgcg ttttttttaa ttatataaaa atatttcact ataaatggct
      601 cttgaatacc ctgttactga atgtttataa tttccttttg tgggaggtgt catttttttc
      661 tgccagtagt ttgaacaaag ctttagtaga tagctttgta taaaacttag aataattttt
      721 tcaaatatgc agatgtgaaa ataaattgaa tcaaggaata tgaacttaag gtacattttt
      781 ctaaattata ttgcaaagta ttaaattagt attcattgct ttcgaaaaat aaagggccag
      841 ttacaacata ctttcacagc attattttaa ttcaaatatg gtttatgtca gtgaattata
      901 aatacacagc acataattaa caatgagtat tagagaatct aaatactttc tcatgcttat
      961 ttactaattc ctttttgttt tgtctttttc tcacttttct gttttaacca atgtatttcc
     1021 tctttgaatc agcagacaat gtaataaaaa tattattcat aa
//
