LOCUS       NM_021147               1361 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens cyclin O (CCNO), transcript variant 1, mRNA.
ACCESSION   NM_021147
VERSION     NM_021147.5
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 1361)
  AUTHORS   Ma,C., Wu,H., Zhu,D., Wang,Y., Shen,Q., Cheng,H., Zhang,J.,
            Geng,H., Liu,Y., He,X., Tao,F., Cao,Y. and Xu,X.
  TITLE     Bi-allelic mutations in MCIDAS and CCNO cause human infertility
            associated with abnormal gamete transport
  JOURNAL   Clin Genet 100 (6), 731-742 (2021)
   PUBMED   34569065
  REMARK    GeneRIF: Bi-allelic mutations in MCIDAS and CCNO cause human
            infertility associated with abnormal gamete transport.
REFERENCE   2  (bases 1 to 1361)
  AUTHORS   Henriques,A.R., Constant,C., Descalco,A., Pinto,A., Moura Nunes,J.,
            Sampaio,P., Lopes,S.S., Pereira,L. and Bandeira,T.
  TITLE     Primary ciliary dyskinesia due to CCNO mutations-A
            genotype-phenotype correlation contribution
  JOURNAL   Pediatr Pulmonol 56 (8), 2776-2779 (2021)
   PUBMED   34102041
  REMARK    GeneRIF: Primary ciliary dyskinesia due to CCNO mutations-A
            genotype-phenotype correlation contribution.
REFERENCE   3  (bases 1 to 1361)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1361)
  AUTHORS   Gasa,L., Sanchez-Botet,A., Quandt,E., Hernandez-Ortega,S.,
            Jimenez,J., Carrasco-Garcia,M.A., Simonetti,S., Kron,S.J.,
            Ribeiro,M.P., Nadal,E., Villanueva,A. and Clotet,J.
  TITLE     A systematic analysis of orphan cyclins reveals CNTD2 as a new
            oncogenic driver in lung cancer
  JOURNAL   Sci Rep 7 (1), 10228 (2017)
   PUBMED   28860486
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1361)
  AUTHORS   Casey,J.P., McGettigan,P.A., Healy,F., Hogg,C., Reynolds,A.,
            Kennedy,B.N., Ennis,S., Slattery,D. and Lynch,S.A.
  TITLE     Unexpected genetic heterogeneity for primary ciliary dyskinesia in
            the Irish Traveller population
  JOURNAL   Eur J Hum Genet 23 (2), 210-217 (2015)
   PUBMED   24824133
REFERENCE   6  (bases 1 to 1361)
  AUTHORS   Wallmeier,J., Al-Mutairi,D.A., Chen,C.T., Loges,N.T., Pennekamp,P.,
            Menchen,T., Ma,L., Shamseldin,H.E., Olbrich,H., Dougherty,G.W.,
            Werner,C., Alsabah,B.H., Kohler,G., Jaspers,M., Boon,M., Griese,M.,
            Schmitt-Grohe,S., Zimmermann,T., Koerner-Rettberg,C., Horak,E.,
            Kintner,C., Alkuraya,F.S. and Omran,H.
  TITLE     Mutations in CCNO result in congenital mucociliary clearance
            disorder with reduced generation of multiple motile cilia
  JOURNAL   Nat Genet 46 (6), 646-651 (2014)
   PUBMED   24747639
  REMARK    GeneRIF: CCNO mutations have a role in congenital mucociliary
            clearance disorder with reduced generation of multiple motile cilia
REFERENCE   7  (bases 1 to 1361)
  AUTHORS   Schmutz,J., Martin,J., Terry,A., Couronne,O., Grimwood,J.,
            Lowry,S., Gordon,L.A., Scott,D., Xie,G., Huang,W., Hellsten,U.,
            Tran-Gyamfi,M., She,X., Prabhakar,S., Aerts,A., Altherr,M.,
            Bajorek,E., Black,S., Branscomb,E., Caoile,C., Challacombe,J.F.,
            Chan,Y.M., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
            Fotopulos,D., Glavina,T., Gomez,M., Gonzales,E., Goodstein,D.,
            Grigoriev,I., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Israni,S.,
            Jett,J., Kadner,K., Kimball,H., Kobayashi,A., Lopez,F., Lou,Y.,
            Martinez,D., Medina,C., Morgan,J., Nandkeshwar,R., Noonan,J.P.,
            Pitluck,S., Pollard,M., Predki,P., Priest,J., Ramirez,L.,
            Retterer,J., Rodriguez,A., Rogers,S., Salamov,A., Salazar,A.,
            Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N., Wheeler,J.,
            Wu,K., Yang,J., Dickson,M., Cheng,J.F., Eichler,E.E., Olsen,A.,
            Pennacchio,L.A., Rokhsar,D.S., Richardson,P., Lucas,S.M.,
            Myers,R.M. and Rubin,E.M.
  TITLE     The DNA sequence and comparative analysis of human chromosome 5
  JOURNAL   Nature 431 (7006), 268-274 (2004)
   PUBMED   15372022
REFERENCE   8  (bases 1 to 1361)
  AUTHORS   Muller,S.J. and Caradonna,S.
  TITLE     Cell cycle regulation of a human cyclin-like gene encoding
            uracil-DNA glycosylase
  JOURNAL   J Biol Chem 268 (2), 1310-1319 (1993)
   PUBMED   8419333
  REMARK    GeneRIF: This publication corrected the mistaken attribution of
            uracil DNA glycosylase activity to this gene.
REFERENCE   9  (bases 1 to 1361)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
REFERENCE   10 (bases 1 to 1361)
  AUTHORS   Muller,S.J. and Caradonna,S.
  TITLE     Isolation and characterization of a human cDNA encoding uracil-DNA
            glycosylase
  JOURNAL   Biochim Biophys Acta 1088 (2), 197-207 (1991)
   PUBMED   2001396
  REMARK    GeneRIF: This publication initially attributed 'uracil-DNA
            glycosylase' activity to this gene and named it UNG2, but a later
            publication (PubMed ID: 8419333) more correctly identified
            UNG2/CCNO as a member of the cyclin protein family.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK026075.1 and BC004877.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_021147.4.
            
            Summary: This gene encodes a member of the cyclin protein family,
            and the encoded protein is involved in regulation of the cell
            cycle. Disruption of this gene is associated with primary ciliary
            dyskinesia-19. Alternative splicing results in multiple transcript
            variants. This gene, which has a previous symbol of UNG2, was
            erroneously identified as a uracil DNA glycosylase in PubMed ID:
            2001396. A later publication, PubMed ID: 8419333, identified this
            gene's product as a cyclin protein family member. The UNG2 symbol
            is also used as a specific protein isoform name for the UNG gene
            (GeneID 7374), so confusion exists in the scientific literature and
            in some databases for these two genes. [provided by RefSeq, Jul
            2014].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            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 :: AK026075.1, SRR1660807.41818.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000282572.5/ ENSP00000282572.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-821               AK026075.1         73-893
            822-1361            BC004877.2         1187-1726
FEATURES             Location/Qualifiers
     source          1..1361
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q11.2"
     gene            1..1361
                     /gene="CCNO"
                     /gene_synonym="CCNU; CILD29; UDG2"
                     /note="cyclin O"
                     /db_xref="GeneID:10309"
                     /db_xref="HGNC:HGNC:18576"
                     /db_xref="MIM:607752"
     exon            1..466
                     /gene="CCNO"
                     /gene_synonym="CCNU; CILD29; UDG2"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..1138
                     /gene="CCNO"
                     /gene_synonym="CCNU; CILD29; UDG2"
                     /note="cyclin U; cyclin domain containing"
                     /codon_start=1
                     /product="cyclin-O"
                     /protein_id="NP_066970.3"
                     /db_xref="CCDS:CCDS34157.1"
                     /db_xref="GeneID:10309"
                     /db_xref="HGNC:HGNC:18576"
                     /db_xref="MIM:607752"
                     /translation="MVTPCPTSPSSPAARAGRRDNDQNLRAPVKKSRRPRLRRKQPLH
                     PLNPCPLPGDSGICDLFESPSSGSDGAESPSAARGGSPLPGPAQPVAQLDLQTFRDYG
                     QSCYAFRKAQESHFHPREALARQPQVTAESRCKLLSWLIPVHRQFGLSFESLCLTVNT
                     LDRFLTTTPVAADCFQLLGVTSLLIACKQVEVHPPRVKQLLALCCGAFSRQQLCNLEC
                     IVLHKLHFTLGAPTISFFLEHFTHARVEAGQAEASEALEAQALARGVAELSLADYAFT
                     SYSPSLLAICCLALADRMLRVSRPVDLRLGDHPEAALEDCMGKLQLLVAINSTSLTHM
                     LPVQICEKCSLPPSSK"
     exon            467..652
                     /gene="CCNO"
                     /gene_synonym="CCNU; CILD29; UDG2"
                     /inference="alignment:Splign:2.1.0"
     exon            653..1361
                     /gene="CCNO"
                     /gene_synonym="CCNU; CILD29; UDG2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1337..1342
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCNO"
                     /gene_synonym="CCNU; CILD29; UDG2"
                     /note="hexamer: AATAAA"
     polyA_site      1361
                     /gene="CCNO"
                     /gene_synonym="CCNU; CILD29; UDG2"
                     /note="major polyA site"
ORIGIN      
        1 ggcctccttc gcactttcga gtgcgcgttt gctgcccgcc gcagcccggg cgttgaaggt
       61 agtaaagcgg ccacccggcc gcatcatggt gaccccctgt cccaccagcc cctcgagccc
      121 cgccgcccga gcggggaggc gggacaacga ccagaacctt cgcgccccgg tgaagaagag
      181 caggcgtccg cgcctccgga ggaagcagcc gctgcatccc ctgaacccgt gcccgctccc
      241 gggagactcc ggcatttgcg acctgttcga gtcccccagc tccggctcag acggcgcaga
      301 gagcccctct gcggcgcggg gtggtagccc cctgcccggc ccggcccagc ccgtggcgca
      361 gctagatcta cagaccttcc gcgactacgg ccagagctgc tacgccttcc gcaaggcgca
      421 ggagagccac ttccacccgc gggaggcgct ggcacggcag ccacaagtga cggcggaatc
      481 ccgctgtaag ctgctcagct ggctgatccc ggtgcaccgc caattcggcc tctccttcga
      541 gtcgctgtgc ctgacggtga acactctgga ccgcttcctc accaccacgc cggtggctgc
      601 agactgcttc cagctgcttg gggtcacctc cttgctcatc gcttgcaaac aggtggaggt
      661 gcacccgccg cgcgtgaagc agcttctggc cctctgctgc ggcgccttct cccggcagca
      721 gctctgcaac ctcgagtgca tcgtgctgca caagctgcac ttcaccctgg gtgcgcccac
      781 cattagcttc ttcctggagc atttcacgca cgctcgcgtg gaggcggggc aggctgaggc
      841 ctccgaagct ctggaagcgc aagccctggc gcggggggtg gcagagctga gtctggccga
      901 ctatgccttc accagctact ccccttccct cctggcgatc tgctgcctgg cgctggcgga
      961 ccgcatgctg cgggtctcgc ggcccgtgga cttgcgactg ggagaccacc cggaggcggc
     1021 gctggaggac tgtatgggca agttgcagct gctggtggcc ataaacagta cttccttgac
     1081 tcacatgctg cccgttcaga tctgcgagaa gtgcagcctg cccccgagct cgaaataaaa
     1141 cagatccttc gtttcctttt agtccctggc ccggctgctg gacctctccc gtagcctcag
     1201 aagagtgcag tactggtcca cagagaaggc ttcaggacct gcttggtcag ctgcaggttg
     1261 taaatagtgt acgatactag catctggtat tttatttatt ttgcagcgag cacatgagga
     1321 agctgagtct ttcaccaata aacagttgtg gtttgtctaa a
//
