LOCUS       NM_006392               1913 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens NOP56 ribonucleoprotein (NOP56), transcript variant 1,
            mRNA.
ACCESSION   NM_006392
VERSION     NM_006392.4
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 1913)
  AUTHORS   Morikawa,T., Miura,S., Uchiyama,Y., Hiruki,S., Sun,Y., Fujioka,R.
            and Shibata,H.
  TITLE     Hexanucleotide repeat expansion in SCA36 reduces the expression of
            genes involved in ribosome biosynthesis and protein translation
  JOURNAL   J Hum Genet 69 (9), 411-416 (2024)
   PUBMED   38811808
  REMARK    GeneRIF: Hexanucleotide repeat expansion in SCA36 reduces the
            expression of genes involved in ribosome biosynthesis and protein
            translation.
REFERENCE   2  (bases 1 to 1913)
  AUTHORS   Ruffo,P., De Amicis,F., La Bella,V. and Conforti,F.L.
  TITLE     Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC
            Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from
            Southern Italy
  JOURNAL   Cells 13 (8), 677 (2024)
   PUBMED   38667292
  REMARK    GeneRIF: Investigating Repeat Expansions in NIPA1, NOP56, and
            NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis
            Patients from Southern Italy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1913)
  AUTHORS   Zhao,S., Zhang,D., Liu,S. and Huang,J.
  TITLE     The roles of NOP56 in cancer and SCA36
  JOURNAL   Pathol Oncol Res 29, 1610884 (2023)
   PUBMED   36741964
  REMARK    GeneRIF: The roles of NOP56 in cancer and SCA36.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1913)
  AUTHORS   Singh,S., Vanden Broeck,A., Miller,L., Chaker-Margot,M. and
            Klinge,S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   5  (bases 1 to 1913)
  AUTHORS   Watkins,N.J., Dickmanns,A. and Luhrmann,R.
  TITLE     Conserved stem II of the box C/D motif is essential for nucleolar
            localization and is required, along with the 15.5K protein, for the
            hierarchical assembly of the box C/D snoRNP
  JOURNAL   Mol Cell Biol 22 (23), 8342-8352 (2002)
   PUBMED   12417735
REFERENCE   6  (bases 1 to 1913)
  AUTHORS   Scherl,A., Coute,Y., Deon,C., Calle,A., Kindbeiter,K.,
            Sanchez,J.C., Greco,A., Hochstrasser,D. and Diaz,J.J.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
REFERENCE   7  (bases 1 to 1913)
  AUTHORS   Andersen,J.S., Lyon,C.E., Fox,A.H., Leung,A.K., Lam,Y.W., Steen,H.,
            Mann,M. and Lamond,A.I.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
REFERENCE   8  (bases 1 to 1913)
  AUTHORS   Gautier,T., Berges,T., Tollervey,D. and Hurt,E.
  TITLE     Nucleolar KKE/D repeat proteins Nop56p and Nop58p interact with
            Nop1p and are required for ribosome biogenesis
  JOURNAL   Mol Cell Biol 17 (12), 7088-7098 (1997)
   PUBMED   9372940
REFERENCE   9  (bases 1 to 1913)
  AUTHORS   Arias,M., Quintans,B., Garcia-Murias,M. and Sobrido,M.J.
  TITLE     Spinocerebellar Ataxia Type 36 - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25101480
REFERENCE   10 (bases 1 to 1913)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA805367.1, BC104793.1 and
            BC035369.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006392.3.
            
            Summary: Nop56p is a yeast nucleolar protein that is part of a
            complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p
            is required for assembly of the 60S ribosomal subunit and is
            involved in pre-rRNA processing. The protein encoded by this gene
            is similar in sequence to Nop56p and is also found in the
            nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to
            1500-2500 copies in an intron of this gene results in
            spinocerebellar ataxia 36. Multiple transcript variants encoding
            several different isoforms have been found for this gene, but the
            full-length nature of most of them has not been determined.
            [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            
            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 :: BX647439.1, SRR3476690.609502.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329276.10/ ENSP00000370589.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-237               DA805367.1         46-282
            238-1850            BC104793.1         338-1950
            1851-1913           BC035369.1         1841-1903
FEATURES             Location/Qualifiers
     source          1..1913
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..1913
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /note="NOP56 ribonucleoprotein"
                     /db_xref="GeneID:10528"
                     /db_xref="HGNC:HGNC:15911"
                     /db_xref="MIM:614154"
     exon            1..32
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..1814
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /note="nucleolar protein 5A (56kDa with KKE/D repeat);
                     NOP56 ribonucleoprotein homolog"
                     /codon_start=1
                     /product="nucleolar protein 56"
                     /protein_id="NP_006383.2"
                     /db_xref="CCDS:CCDS13030.1"
                     /db_xref="GeneID:10528"
                     /db_xref="HGNC:HGNC:15911"
                     /db_xref="MIM:614154"
                     /translation="MVLLHVLFEHAVGYALLALKEVEEISLLQPQVEESVLNLGKFHS
                     IVRLVAFCPFASSQVALENANAVSEGVVHEDLRLLLETHLPSKKKKVLLGVGDPKIGA
                     AIQEELGYNCQTGGVIAEILRGVRLHFHNLVKGLTDLSACKAQLGLGHSYSRAKVKFN
                     VNRVDNMIIQSISLLDQLDKDINTFSMRVREWYGYHFPELVKIINDNATYCRLAQFIG
                     NRRELNEDKLEKLEELTMDGAKAKAILDASRSSMGMDISAIDLINIESFSSRVVSLSE
                     YRQSLHTYLRSKMSQVAPSLSALIGEAVGARLIAHAGSLTNLAKYPASTVQILGAEKA
                     LFRALKTRGNTPKYGLIFHSTFIGRAAAKNKGRISRYLANKCSIASRIDCFSEVPTSV
                     FGEKLREQVEERLSFYETGEIPRKNLDVMKEAMVQAEEAAAEITRKLEKQEKKRLKKE
                     KKRLAALALASSENSSSTPEECEEMSEKPKKKKKQKPQEVPQENGMEDPSISFSKPKK
                     KKSFSKEELMSSDLEETAGSTSIPKRKKSTPKEETVNDPEEAGHRSGSKKKRKFSKEE
                     PVSSGPEEAVGKSSSKKKKKFHKASQED"
     exon            33..122
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     exon            123..237
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     exon            238..399
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     exon            400..598
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     exon            599..786
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     exon            787..938
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1039
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..1188
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1310
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1311..1448
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1449..1913
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1893..1898
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /note="hexamer: AATAAA"
     polyA_site      1913
                     /gene="NOP56"
                     /gene_synonym="NOL5A; SCA36"
                     /note="major polyA site"
ORIGIN      
        1 attgcgagcc gaacccggga gctggcgcca tggtgctgtt gcacgtgctg tttgagcacg
       61 cggtcggcta cgcgctgctg gcgctgaagg aagtggagga gatcagtctg ctgcagccgc
      121 aggtggagga gtctgtgctc aacctgggca aattccacag catcgttcgt ctggtggcct
      181 tttgtccctt tgcctcatcc caggttgcct tggaaaatgc caacgccgtg tctgaagggg
      241 ttgttcatga ggacctccgc ctgctcttgg agacccacct gccgtccaaa aagaagaaag
      301 tactcttggg agttggggat cccaagattg gtgccgcaat acaggaggag ttagggtaca
      361 actgccagac tggaggagtc atagctgaga tcctgcgagg agttcgtctg cacttccaca
      421 atctggtgaa gggtctgacc gatctgtcag cttgtaaagc acagctgggg ctgggacaca
      481 gctattcccg tgccaaagtt aagtttaatg tgaaccgggt ggacaatatg atcatccagt
      541 ccattagcct cctggaccag ctggataagg acatcaatac cttctctatg cgtgtcaggg
      601 agtggtacgg gtatcacttt ccggagctgg tgaagatcat caacgacaat gccacatact
      661 gccgtcttgc ccagtttatt ggaaaccgaa gggaactgaa tgaggacaag ctggagaagc
      721 tggaggagct gacaatggat ggggccaagg ctaaggctat tctggatgcc tcacggtcct
      781 ccatgggcat ggacatatct gccattgact tgataaacat cgagagcttc tccagtcgtg
      841 tggtgtcttt atctgaatac cgccagagcc tacacactta cctgcgctcc aagatgagcc
      901 aagtagcccc cagcctgtca gccctaattg gggaagcggt aggtgcacgt ctcatcgcac
      961 atgctggcag cctcaccaac ctggccaagt atccagcatc cacagtgcag atccttgggg
     1021 ctgaaaaggc cctgttcaga gccctgaaga caaggggtaa cactccaaaa tatggactca
     1081 ttttccactc caccttcatt ggccgagcag ctgccaagaa caaaggccgc atctcccgat
     1141 acctggcaaa caaatgcagt attgcctcac gaatcgattg cttctctgag gtgcccacga
     1201 gtgtattcgg ggagaagctt cgagaacaag ttgaagagcg actgtccttc tatgagactg
     1261 gagagatacc acgaaagaat ctggatgtca tgaaggaagc aatggttcag gcagaggaag
     1321 cggctgctga gattactagg aagctggaga aacaggagaa gaaacgctta aagaaggaaa
     1381 agaaacggct ggctgcactt gccctcgcgt cttcagaaaa cagcagtagt actccagagg
     1441 agtgtgagga gatgagtgaa aaacccaaaa agaagaaaaa gcaaaagccc caggaggttc
     1501 ctcaggagaa tggaatggaa gacccatcta tctctttctc caaacccaag aaaaagaaat
     1561 ctttttccaa ggaggagttg atgagtagcg atcttgaaga gaccgctggc agcaccagta
     1621 ttcccaagag gaagaagtct acacccaagg aggaaacagt taatgaccct gaggaggcag
     1681 gccacagaag tggctccaag aaaaagagga aattctccaa agaggagccg gtcagcagtg
     1741 ggcctgaaga ggcggttggc aagagcagct ccaagaagaa gaaaaagttc cataaagcat
     1801 cccaggaaga ttagaatgca aatggacatt ctctgggagg tggggcatac catagcccaa
     1861 ggtgacattt cccaccctgt gccgtgttcc ccaataaaaa caaattcaca aga
//
