LOCUS       NM_033124               1792 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens coiled-coil domain containing 65 (CCDC65), transcript
            variant 1, mRNA.
ACCESSION   NM_033124
VERSION     NM_033124.5
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 1792)
  AUTHORS   Jreijiri,F., Cavarocchi,E., Amiri-Yekta,A., Cazin,C.,
            Hosseini,S.H., El Khouri,E., Patrat,C., Thierry-Mieg,N., Ray,P.F.,
            Dulioust,E., Whitfield,M. and Toure,A.
  TITLE     CCDC65, encoding a component of the axonemal Nexin-Dynein
            regulatory complex, is required for sperm flagellum structure in
            humans
  JOURNAL   Clin Genet 105 (3), 317-322 (2024)
   PUBMED   37975235
  REMARK    GeneRIF: CCDC65, encoding a component of the axonemal Nexin-Dynein
            regulatory complex, is required for sperm flagellum structure in
            humans.
REFERENCE   2  (bases 1 to 1792)
  AUTHORS   Zhang,J., He,X., Wu,H., Zhang,X., Yang,S., Liu,C., Liu,S., Hua,R.,
            Zhou,S., Zhao,S., Hu,F., Zhang,J., Liu,W., Cheng,H., Gao,Y.,
            Zhang,F., Cao,Y. and Liu,M.
  TITLE     Loss of DRC1 function leads to multiple morphological abnormalities
            of the sperm flagella and male infertility in human and mouse
  JOURNAL   Hum Mol Genet 30 (21), 1996-2011 (2021)
   PUBMED   34169321
REFERENCE   3  (bases 1 to 1792)
  AUTHORS   Deng,T., Shen,P., Li,A., Zhang,Z., Yang,H., Deng,X., Peng,X.,
            Hu,Z., Tang,Z., Liu,J., Hou,R., Liu,Z. and Fang,W.
  TITLE     CCDC65 as a new potential tumor suppressor induced by metformin
            inhibits activation of AKT1 via ubiquitination of ENO1 in gastric
            cancer
  JOURNAL   Theranostics 11 (16), 8112-8128 (2021)
   PUBMED   34335983
  REMARK    GeneRIF: CCDC65 as a new potential tumor suppressor induced by
            metformin inhibits activation of AKT1 via ubiquitination of ENO1 in
            gastric cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1792)
  AUTHORS   Sigg,M.A., Menchen,T., Lee,C., Johnson,J., Jungnickel,M.K.,
            Choksi,S.P., Garcia,G. 3rd, Busengdal,H., Dougherty,G.W.,
            Pennekamp,P., Werner,C., Rentzsch,F., Florman,H.M., Krogan,N.,
            Wallingford,J.B., Omran,H. and Reiter,J.F.
  TITLE     Evolutionary Proteomics Uncovers Ancient Associations of Cilia with
            Signaling Pathways
  JOURNAL   Dev Cell 43 (6), 744-762 (2017)
   PUBMED   29257953
REFERENCE   5  (bases 1 to 1792)
  AUTHORS   Austin-Tse,C., Halbritter,J., Zariwala,M.A., Gilberti,R.M.,
            Gee,H.Y., Hellman,N., Pathak,N., Liu,Y., Panizzi,J.R.,
            Patel-King,R.S., Tritschler,D., Bower,R., O'Toole,E., Porath,J.D.,
            Hurd,T.W., Chaki,M., Diaz,K.A., Kohl,S., Lovric,S., Hwang,D.Y.,
            Braun,D.A., Schueler,M., Airik,R., Otto,E.A., Leigh,M.W.,
            Noone,P.G., Carson,J.L., Davis,S.D., Pittman,J.E., Ferkol,T.W.,
            Atkinson,J.J., Olivier,K.N., Sagel,S.D., Dell,S.D., Rosenfeld,M.,
            Milla,C.E., Loges,N.T., Omran,H., Porter,M.E., King,S.M.,
            Knowles,M.R., Drummond,I.A. and Hildebrandt,F.
  TITLE     Zebrafish Ciliopathy Screen Plus Human Mutational Analysis
            Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary
            Dyskinesia
  JOURNAL   Am J Hum Genet 93 (4), 672-686 (2013)
   PUBMED   24094744
REFERENCE   6  (bases 1 to 1792)
  AUTHORS   Horani,A., Brody,S.L., Ferkol,T.W., Shoseyov,D., Wasserman,M.G.,
            Ta-shma,A., Wilson,K.S., Bayly,P.V., Amirav,I.,
            Cohen-Cymberknoh,M., Dutcher,S.K., Elpeleg,O. and Kerem,E.
  TITLE     CCDC65 mutation causes primary ciliary dyskinesia with normal
            ultrastructure and hyperkinetic cilia
  JOURNAL   PLoS One 8 (8), e72299 (2013)
   PUBMED   23991085
  REMARK    GeneRIF: Mutation in CCDC65, a nexin-dynein regulatory complex
            member, resulted in a frameshift mutation and PCD
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1792)
  AUTHORS   Lin,J., Tritschler,D., Song,K., Barber,C.F., Cobb,J.S., Porter,M.E.
            and Nicastro,D.
  TITLE     Building blocks of the nexin-dynein regulatory complex in
            Chlamydomonas flagella
  JOURNAL   J Biol Chem 286 (33), 29175-29191 (2011)
   PUBMED   21700706
REFERENCE   8  (bases 1 to 1792)
  AUTHORS   Zheng,Y., Zhang,J., Wang,L., Zhou,Z., Xu,M., Li,J. and Sha,J.H.
  TITLE     Cloning and characterization of a novel sperm tail protein,
            NYD-SP28
  JOURNAL   Int J Mol Med 18 (6), 1119-1125 (2006)
   PUBMED   17089017
  REMARK    GeneRIF: NYD-SP28, a sperm tail protein, was cloned and
            characterized.
REFERENCE   9  (bases 1 to 1792)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB026303.1, BC039317.1 and
            CA314956.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_033124.4.
            
            Summary: This gene encodes a sperm tail protein that is highly
            expressed in adult testis, spermatocytes and spermatids. The
            protein plays a critical role in the assembly of the nexin-dynein
            regulatory complex. Mutations in this gene result in primary
            ciliary dyskinesia. [provided by RefSeq, Nov 2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.205939.1,
                                           SRR5189667.322978.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320516.5/ ENSP00000312706.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                DB026303.1         24-61
            39-1787             BC039317.1         1-1749
            1788-1792           CA314956.1         18-22               c
FEATURES             Location/Qualifiers
     source          1..1792
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.12"
     gene            1..1792
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /note="coiled-coil domain containing 65"
                     /db_xref="GeneID:85478"
                     /db_xref="HGNC:HGNC:29937"
                     /db_xref="MIM:611088"
     exon            1..336
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /inference="alignment:Splign:2.1.0"
     CDS             205..1659
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /note="isoform 1 is encoded by transcript variant 1;
                     testis development protein NYD-SP28; dynein regulatory
                     complex subunit 2"
                     /codon_start=1
                     /product="dynein regulatory complex subunit 2 isoform 1"
                     /protein_id="NP_149115.2"
                     /db_xref="CCDS:CCDS8772.1"
                     /db_xref="GeneID:85478"
                     /db_xref="HGNC:HGNC:29937"
                     /db_xref="MIM:611088"
                     /translation="MPKKEKMAKTPLSDEKQLLLFQQKLLAEEEMAKKKERLLSQFLK
                     DKLAKEEHNSALNLNKINTQWRTVLREVKTRELHKDIEILSQTFERVVDCKDNVIKSL
                     AKDLSEAEEQYAHALRSHLHNVDQLLALQRHRLSLLEESYNMELEALTKEFETERKTI
                     IDQHEKEIHYLQDIFMAMEQNYIDSEYESKLEFQSMWNDLKNMNLEEKHFLRLHLENR
                     VEDLWRKFQDVLKNYTDATEDRKAAFETLQVKDEKSSKEIEVQMKKIQKLQDAITISK
                     GKIMIHSRESEDENRYIRNDKELVLVQLRKLKAQRTQARAASQKNLVRLTLESNATLK
                     ALRKIVDKGEKILKLAEICRKFETEEEKVLPFYSSVLTPKEQEGIQKNNLEELTEELT
                     KVMVDYIGMENFWKRYNKVKLEQLSLQHRRAQLLDINGKLREMLKQYLDGISVSDEVL
                     SQLNPLFIVNYQSNLLQPLSIRIAHPGDKQHPTT"
     exon            337..504
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /inference="alignment:Splign:2.1.0"
     exon            505..674
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /inference="alignment:Splign:2.1.0"
     exon            675..813
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /inference="alignment:Splign:2.1.0"
     exon            814..1011
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1230
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1383
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /inference="alignment:Splign:2.1.0"
     exon            1384..1792
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1770..1775
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /note="hexamer: ATTAAA"
     polyA_site      1792
                     /gene="CCDC65"
                     /gene_synonym="CFAP250; DRC2; FAP250; NYD-SP28"
                     /note="major polyA site"
ORIGIN      
        1 agacgcgtct tacagtggga gagctcagcc tcactgatag ccggggatct ctcctgttcg
       61 agggctgaga tctccggtcc cacaaccgcc cacaaccagg ggcacttctg gaagtcccct
      121 ttctagggac atttttcttc taagctctgt aacgcgggcc gaggcagacc gaggcttctt
      181 tcccggatcc aatcccctgc ccccatgcct aagaaagaaa aaatggccaa gacgcccctg
      241 tccgatgaga agcagctgct tctgtttcag cagaagttgc tggcagagga ggagatggcc
      301 aaaaagaagg agaggctcct cagccagttc ttgaaggaca agctggccaa ggaggaacac
      361 aacagtgctc tgaaccttaa taagattaac acacagtgga gaactgtcct tcgggaagtc
      421 aagaccagag aacttcataa ggacattgag atcctcagcc aaacatttga acgagtggtg
      481 gactgtaagg acaatgtcat caagtcttta gctaaagacc tgtccgaagc cgaggagcag
      541 tacgcccatg ccctgcgcag ccacttgcac aatgttgacc agctcttggc cctgcagagg
      601 caccggctca gtctcctgga ggaaagttac aacatggagc tggaagccct aaccaaggag
      661 tttgagacag aaaggaagac aattattgac caacatgaga aagagattca ctatctgcaa
      721 gatatcttca tggccatgga gcagaactat atagattctg agtatgaaag caagctggag
      781 ttccagagca tgtggaatga tctcaaaaac atgaatttag aagagaagca ctttctaaga
      841 ctgcacctgg agaacagagt agaagatctg tggagaaagt tccaggatgt actcaagaat
      901 tacactgatg ccacagagga tcgaaaggct gcctttgaga ccctgcaggt gaaggatgag
      961 aagagctcca aagagattga agtacagatg aaaaaaatac agaaactaca ggatgccata
     1021 actatttcaa aaggcaagat catgatacac agccgtgaga gtgaagatga gaaccggtat
     1081 atccgtaatg acaaggaatt ggtccttgta caactgcgaa aacttaaggc ccaaagaact
     1141 caggcccggg cagcatccca gaagaactta gtcagactca ccctggaaag taatgccacc
     1201 ctcaaggccc tgagaaagat tgttgataag ggtgaaaaga tccttaaact tgctgaaata
     1261 tgtaggaaat ttgaaaccga agaagaaaaa gtgctgcctt tttattcatc agtattgact
     1321 cctaaggagc aggaggggat tcagaagaat aatctagaag agcttactga ggagctcacc
     1381 aaggtgatgg tggactacat aggaatggag aatttctgga aaaggtacaa caaagtgaaa
     1441 ctggagcaac tgagcctcca acatagacga gcccagctgc tagatatcaa tgggaagctg
     1501 cgggagatgc tgaagcagta cttggatggc atctcagtga gtgacgaagt gctgagccag
     1561 ctcaacccac tctttatagt caactatcaa agcaacttac tccagccctt gtccatacgt
     1621 atagcccatc caggtgataa acaacatcca accacttaaa atataattga agcagcccag
     1681 atgatcttcc acaacctgtg atctaaggaa aaaaatcttt caactcctag agattttttt
     1741 ttttttttga gaaatgtagg gatgttgcta ttaaaaattt ccatggagtt ta
//
