LOCUS       NM_001130997            1193 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens cyclin Q (CCNQ), transcript variant 2, mRNA.
ACCESSION   NM_001130997
VERSION     NM_001130997.3
KEYWORDS    RefSeq.
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 1193)
  AUTHORS   Duster,R., Ji,Y., Pan,K.T., Urlaub,H. and Geyer,M.
  TITLE     Functional characterization of the human Cdk10/Cyclin Q complex
  JOURNAL   Open Biol 12 (3), 210381 (2022)
   PUBMED   35291876
  REMARK    GeneRIF: Functional characterization of the human Cdk10/Cyclin Q
            complex.
REFERENCE   2  (bases 1 to 1193)
  AUTHORS   Robert,T., Dock-Bregeon,A.C. and Colas,P.
  TITLE     Functional characterization of CDK10 and cyclin M truncated
            variants causing severe developmental disorders
  JOURNAL   Mol Genet Genomic Med 9 (10), e1782 (2021)
   PUBMED   34369103
  REMARK    GeneRIF: Functional characterization of CDK10 and cyclin M
            truncated variants causing severe developmental disorders.
REFERENCE   3  (bases 1 to 1193)
  AUTHORS   Boczek,N.J., Kruisselbrink,T., Cousin,M.A., Blackburn,P.R.,
            Klee,E.W., Gavrilova,R.H. and Lanpher,B.C.
  TITLE     Multigenerational pedigree with STAR syndrome: A novel FAM58A
            variant and expansion of the phenotype
  JOURNAL   Am J Med Genet A 173 (5), 1328-1333 (2017)
   PUBMED   28322501
  REMARK    GeneRIF: this is the first occurrence of a nonsense variant in
            FAM58A described in individuals with STAR syndrome and the
            phenotype in this pedigree suggests that tethered cord and hearing
            loss are features of STAR syndrome.
REFERENCE   4  (bases 1 to 1193)
  AUTHORS   Orge,F.H., Dar,S.A., Blackburn,C.N., Grimes-Hodges,S.J. and
            Mitchell,A.L.
  TITLE     Ocular manifestations of X-linked dominant FAM58A mutation in toe
            syndactyly, telecanthus, anogenital, and renal malformations
            ('STAR') syndrome
  JOURNAL   Ophthalmic Genet 37 (3), 323-327 (2016)
   PUBMED   26882209
  REMARK    GeneRIF: These ophthalmic findings are the first reported to our
            knowledge in association with STAR syndrome. The literature
            frequently demonstrates that patients with developmental anomalies
            often have ocular manifestations, warranting a full ophthalmic
            examination when the diagnosis of STAR syndrome has been made or is
            being considered.
REFERENCE   5  (bases 1 to 1193)
  AUTHORS   Guen,V.J., Gamble,C., Perez,D.E., Bourassa,S., Zappel,H.,
            Gartner,J., Lees,J.A. and Colas,P.
  TITLE     STAR syndrome-associated CDK10/Cyclin M regulates actin network
            architecture and ciliogenesis
  JOURNAL   Cell Cycle 15 (5), 678-688 (2016)
   PUBMED   27104747
REFERENCE   6  (bases 1 to 1193)
  AUTHORS   Guen,V.J., Gamble,C., Flajolet,M., Unger,S., Thollet,A.,
            Ferandin,Y., Superti-Furga,A., Cohen,P.A., Meijer,L. and Colas,P.
  TITLE     CDK10/cyclin M is a protein kinase that controls ETS2 degradation
            and is deficient in STAR syndrome
  JOURNAL   Proc Natl Acad Sci U S A 110 (48), 19525-19530 (2013)
   PUBMED   24218572
REFERENCE   7  (bases 1 to 1193)
  AUTHORS   Li,H., Gan,W., Lu,L., Dong,X., Han,X., Hu,C., Yang,Z., Sun,L.,
            Bao,W., Li,P., He,M., Sun,L., Wang,Y., Zhu,J., Ning,Q., Tang,Y.,
            Zhang,R., Wen,J., Wang,D., Zhu,X., Guo,K., Zuo,X., Guo,X., Yang,H.,
            Zhou,X., Zhang,X., Qi,L., Loos,R.J., Hu,F.B., Wu,T., Liu,Y.,
            Liu,L., Yang,Z., Hu,R., Jia,W., Ji,L., Li,Y. and Lin,X.
  CONSRTM   DIAGRAM Consortium; AGEN-T2D Consortium
  TITLE     A genome-wide association study identifies GRK5 and RASGRP1 as type
            2 diabetes loci in Chinese Hans
  JOURNAL   Diabetes 62 (1), 291-298 (2013)
   PUBMED   22961080
REFERENCE   8  (bases 1 to 1193)
  AUTHORS   Unger,S., Bohm,D., Kaiser,F.J., Kaulfuss,S., Borozdin,W.,
            Buiting,K., Burfeind,P., Bohm,J., Barrionuevo,F., Craig,A.,
            Borowski,K., Keppler-Noreuil,K., Schmitt-Mechelke,T., Steiner,B.,
            Bartholdi,D., Lemke,J., Mortier,G., Sandford,R., Zabel,B.,
            Superti-Furga,A. and Kohlhase,J.
  TITLE     Mutations in the cyclin family member FAM58A cause an X-linked
            dominant disorder characterized by syndactyly, telecanthus and
            anogenital and renal malformations
  JOURNAL   Nat Genet 40 (3), 287-289 (2008)
   PUBMED   18297069
  REMARK    GeneRIF: Mutations in the cyclin family member FAM58A cause an
            X-linked dominant disorder characterized by syndactyly, telecanthus
            and anogenital and renal malformations.
REFERENCE   9  (bases 1 to 1193)
  AUTHORS   Kim,J.M., Lee,K.H., Jeon,Y.J., Oh,J.H., Jeong,S.Y., Song,I.S.,
            Kim,J.M., Lee,D.S. and Kim,N.S.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   10 (bases 1 to 1193)
  AUTHORS   Li,S., MacLachlan,T.K., De Luca,A., Claudio,P.P., Condorelli,G. and
            Giordano,A.
  TITLE     The cdc-2-related kinase, PISSLRE, is essential for cell growth and
            acts in G2 phase of the cell cycle
  JOURNAL   Cancer Res 55 (18), 3992-3995 (1995)
   PUBMED   7664269
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG766429.1 and BC001909.1.
            
            On May 31, 2019 this sequence version replaced NM_001130997.2.
            
            Summary: Mutations in this gene have been shown to cause an
            X-linked dominant STAR syndrome that typically manifests
            syndactyly, telecanthus and anogenital and renal malformations. The
            protein encoded by this gene contains a cyclin-box-fold domain
            which suggests it may have a role in controlling nuclear cell
            division cycles. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms. [provided by
            RefSeq, Oct 2008].
            
            Transcript Variant: This variant (2) differs in the 3' coding
            region, compared to variant 1, resulting in an isoform (2) with a
            region missing from the C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1767184.1,
                                           SRR14038194.2259621.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-141               BG766429.1         40-180
            142-723             BC001909.1         120-701
            724-1193            BC001909.1         762-1231
FEATURES             Location/Qualifiers
     source          1..1193
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1193
                     /gene="CCNQ"
                     /gene_synonym="CycM; FAM58A"
                     /note="cyclin Q"
                     /db_xref="GeneID:92002"
                     /db_xref="HGNC:HGNC:28434"
                     /db_xref="MIM:300708"
     exon            1..178
                     /gene="CCNQ"
                     /gene_synonym="CycM; FAM58A"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..753
                     /gene="CCNQ"
                     /gene_synonym="CycM; FAM58A"
                     /note="isoform 2 is encoded by transcript variant 2;
                     cyclin M; cyclin-related protein FAM58A; CDK10-activating
                     cyclin; family with sequence similarity 58 member A"
                     /codon_start=1
                     /product="cyclin-Q isoform 2"
                     /protein_id="NP_001124469.1"
                     /db_xref="CCDS:CCDS76054.1"
                     /db_xref="GeneID:92002"
                     /db_xref="HGNC:HGNC:28434"
                     /db_xref="MIM:300708"
                     /translation="MEAPEGGGGGPAARGPEGQPAPEARVHFRVARFIMEAGVKLGMR
                     SIPIATACTIYHKFFCETNLDAYDPYLIAMSSIYLAGKVEEQHLRTRDIINVSNRYFN
                     PSGEPLELDSRFWELRDSIVQCELLMLRVLRFQVSFQHPHKYLLHYLVSLQNWLNRHS
                     WQRTPVAVTAWALLRDSYHGALCLRFQAQHIAVAVLYLALQVYGVEVPAEVEAEKPWW
                     QIYTMDTEIP"
     exon            179..362
                     /gene="CCNQ"
                     /gene_synonym="CycM; FAM58A"
                     /inference="alignment:Splign:2.1.0"
     exon            363..495
                     /gene="CCNQ"
                     /gene_synonym="CycM; FAM58A"
                     /inference="alignment:Splign:2.1.0"
     exon            496..723
                     /gene="CCNQ"
                     /gene_synonym="CycM; FAM58A"
                     /inference="alignment:Splign:2.1.0"
     exon            724..1193
                     /gene="CCNQ"
                     /gene_synonym="CycM; FAM58A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1172..1177
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCNQ"
                     /gene_synonym="CycM; FAM58A"
                     /note="hexamer: AATAAA"
     polyA_site      1193
                     /gene="CCNQ"
                     /gene_synonym="CycM; FAM58A"
                     /note="major polyA site"
ORIGIN      
        1 acctccagtt ctgccggctt ctgcgcgccg gggccgcctc tccttccgcc ggtgccgcgg
       61 cgcctcatgg aagccccgga gggcggcgga ggggggcctg cagcgcgggg cccggagggg
      121 cagccggcgc ccgaagccag ggtgcacttc cgagtggcga ggttcatcat ggaggcaggt
      181 gtcaagctag ggatgcggtc cattcccatt gccactgctt gcaccattta ccataagttc
      241 ttttgcgaga ccaacctgga cgcctatgac ccttacctga ttgccatgtc ttcaatttac
      301 ttggccggca aagtggaaga gcagcacctg cggactcgtg acatcatcaa tgtgtccaac
      361 aggtacttta acccaagcgg tgagcccctg gaattggact cccgcttctg ggaactccgg
      421 gacagcatcg tgcagtgtga gcttctcatg ctgagagttc tgcgcttcca ggtctccttc
      481 cagcatccac acaagtacct gctccactac ctggtttccc tccagaactg gctgaaccgc
      541 cacagctggc agcggacccc tgttgccgtc accgcctggg ccctgctgcg ggacagctac
      601 catggggcgc tgtgcctccg cttccaggcc cagcacatcg ccgtggcggt gctctacctg
      661 gccctgcagg tctacggagt tgaggtgccc gccgaggtcg aggctgagaa gccgtggtgg
      721 cagatttata ccatggacac agagatcccc taaggtcctg gcccaggcct gcccaaagag
      781 aagcccagga tggtcggctg cctggggaca ttgtcaccac gtcgccatga cggctggtcc
      841 ccacaggacc agctgggagg actggttgtg ctgctggaga agggctggag aaggcaatgg
      901 catgctgccg ctttgccagt ccctagaagt cgcggtgcag gtgatggtgg gagccgcgcc
      961 tccagcgggc aggccgggag tgtactgtgt gcagctgacc caaggcagcc acatctgcgt
     1021 ttgtcctttg agaggacttt gactacaata caggcatgac atcaatgaaa ggaaagtcat
     1081 gaaatcgatg agactgaatc cctacggatt tcttaaaagc cagatttgta gggagaatga
     1141 atgtgcaacg tggctgaaat ctattttgtg taataaaagg tgatacaagt caa
//
