LOCUS       NM_181426               3848 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens coiled-coil domain 39 molecular ruler complex subunit
            (CCDC39), mRNA.
ACCESSION   NM_181426
VERSION     NM_181426.2
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 3848)
  AUTHORS   Wilken,A., Hoben,I.M., Wolter,A., Loges,N.T., Olbrich,H., Aprea,I.,
            Dworniczak,B., Raidt,J. and Omran,H.
  TITLE     Primary Ciliary Dyskinesia Associated Disease-Causing Variants in
            CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy
            Chains DNAH1, DNAH6, and DNAH7
  JOURNAL   Cells 13 (14), 1200 (2024)
   PUBMED   39056782
  REMARK    GeneRIF: Primary Ciliary Dyskinesia Associated Disease-Causing
            Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner
            Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3848)
  AUTHORS   Shi,X., Geng,H., Yu,H., Hu,X., Wang,G., Yang,J. and Zhao,H.
  TITLE     Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary
            Dyskinesia and Kartagener Syndrome
  JOURNAL   Biomed Res Int 2022, 7130555 (2022)
   PUBMED   35795318
  REMARK    GeneRIF: Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary
            Dyskinesia and Kartagener Syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3848)
  AUTHORS   Chen,D., Liang,Y., Li,J., Zhang,X., Zheng,R., Wang,X., Zhang,H. and
            Shen,Y.
  TITLE     A novel CCDC39 mutation causes multiple morphological abnormalities
            of the flagella in a primary ciliary dyskinesia patient
  JOURNAL   Reprod Biomed Online 43 (5), 920-930 (2021)
   PUBMED   34674941
  REMARK    GeneRIF: A novel CCDC39 mutation causes multiple morphological
            abnormalities of the flagella in a primary ciliary dyskinesia
            patient.
REFERENCE   4  (bases 1 to 3848)
  AUTHORS   Blanchon,S., Legendre,M., Bottier,M., Tamalet,A., Montantin,G.,
            Collot,N., Faucon,C., Dastot,F., Copin,B., Clement,A., Filoche,M.,
            Coste,A., Amselem,S., Escudier,E., Papon,J.F. and Louis,B.
  TITLE     Deep phenotyping, including quantitative ciliary beating
            parameters, and extensive genotyping in primary ciliary dyskinesia
  JOURNAL   J Med Genet 57 (4), 237-244 (2020)
   PUBMED   31772028
  REMARK    GeneRIF: Deep phenotyping, including quantitative ciliary beating
            parameters, and extensive genotyping in primary ciliary dyskinesia.
REFERENCE   5  (bases 1 to 3848)
  AUTHORS   Fassad,M.R., Shoman,W.I., Morsy,H., Patel,M.P., Radwan,N.,
            Jenkins,L., Cullup,T., Fouda,E., Mitchison,H.M. and Fasseeh,N.
  TITLE     Clinical and genetic spectrum in 33 Egyptian families with
            suspected primary ciliary dyskinesia
  JOURNAL   Clin Genet 97 (3), 509-515 (2020)
   PUBMED   31650533
  REMARK    GeneRIF: Clinical and genetic spectrum in 33 Egyptian families with
            suspected primary ciliary dyskinesia.
REFERENCE   6  (bases 1 to 3848)
  AUTHORS   Becker-Heck,A., Zohn,I.E., Okabe,N., Pollock,A., Lenhart,K.B.,
            Sullivan-Brown,J., McSheene,J., Loges,N.T., Olbrich,H.,
            Haeffner,K., Fliegauf,M., Horvath,J., Reinhardt,R., Nielsen,K.G.,
            Marthin,J.K., Baktai,G., Anderson,K.V., Geisler,R., Niswander,L.,
            Omran,H. and Burdine,R.D.
  TITLE     The coiled-coil domain containing protein CCDC40 is essential for
            motile cilia function and left-right axis formation
  JOURNAL   Nat Genet 43 (1), 79-84 (2011)
   PUBMED   21131974
REFERENCE   7  (bases 1 to 3848)
  AUTHORS   Merveille,A.C., Davis,E.E., Becker-Heck,A., Legendre,M., Amirav,I.,
            Bataille,G., Belmont,J., Beydon,N., Billen,F., Clement,A.,
            Clercx,C., Coste,A., Crosbie,R., de Blic,J., Deleuze,S.,
            Duquesnoy,P., Escalier,D., Escudier,E., Fliegauf,M., Horvath,J.,
            Hill,K., Jorissen,M., Just,J., Kispert,A., Lathrop,M., Loges,N.T.,
            Marthin,J.K., Momozawa,Y., Montantin,G., Nielsen,K.G., Olbrich,H.,
            Papon,J.F., Rayet,I., Roger,G., Schmidts,M., Tenreiro,H.,
            Towbin,J.A., Zelenika,D., Zentgraf,H., Georges,M., Lequarre,A.S.,
            Katsanis,N., Omran,H. and Amselem,S.
  TITLE     CCDC39 is required for assembly of inner dynein arms and the dynein
            regulatory complex and for normal ciliary motility in humans and
            dogs
  JOURNAL   Nat Genet 43 (1), 72-78 (2011)
   PUBMED   21131972
  REMARK    GeneRIF: Functional analyses indicated that CCDC39 localizes to
            ciliary axonemes and is essential for assembly of inner dynein arms
            and the dynein regulatory complex.
REFERENCE   8  (bases 1 to 3848)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   9  (bases 1 to 3848)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (bases 1 to 3848)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC399927.1, AL122120.1 and BG205877.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 30, 2018 this sequence version replaced NM_181426.1.
            
            Summary: The protein encoded by this gene is involved in the
            motility of cilia and flagella. The encoded protein is essential
            for the assembly of dynein regulatory and inner dynein arm
            complexes, which regulate ciliary beat. Defects in this gene are a
            cause of primary ciliary dyskinesia type 14 (CILD14). [provided by
            RefSeq, Jul 2011].
            
            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 :: AK304270.1, SRR1803615.176119.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000476379.6/ ENSP00000417960.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-548               DC399927.1         7-554
            549-2107            AL122120.1         1312-2870
            2108-2580           BG205877.1         125-597
            2581-3848           AL122120.1         3184-4451
FEATURES             Location/Qualifiers
     source          1..3848
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.33"
     gene            1..3848
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /note="coiled-coil domain 39 molecular ruler complex
                     subunit"
                     /db_xref="GeneID:339829"
                     /db_xref="HGNC:HGNC:25244"
                     /db_xref="MIM:613798"
     exon            1..199
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..2935
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /note="coiled-coil domain containing 39"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 39"
                     /protein_id="NP_852091.1"
                     /db_xref="CCDS:CCDS46964.1"
                     /db_xref="GeneID:339829"
                     /db_xref="HGNC:HGNC:25244"
                     /db_xref="MIM:613798"
                     /translation="MSSEFLAELHWEDGFAIPVANEENKLLEDQLSKLKDERASLQDE
                     LREYEERINSMTSHFKNVKQELSITQSLCKARERETESEEHFKAIAQRELGRVKDEIQ
                     RLENEMASILEKKSDKENGIFKATQKLDGLKCQMNWDQQALEAWLEESAHKDSDALTL
                     QKYAQQDDNKIRALTLQLERLTLECNQKRKILDNELTETISAQLELDKAAQDFRKIHN
                     ERQELIKQWENTIEQMQKRDGDIDNCALELARIKQETREKENLVKEKIKFLESEIGNN
                     TEFEKRISVADRKLLKCRTAYQDHETSRIQLKGELDSLKATVNRTSSDLEALRKNISK
                     IKKDIHEETARLQKTKNHNEIIQTKLKEITEKTMSVEEKATNLEDMLKEEEKDVKEVD
                     VQLNLIKGVLFKKAQELQTETMKEKAVLSEIEGTRSSLKHLNHQLQKLDFETLKQQEI
                     MYSQDFHIQQVERRMSRLKGEINSEEKQALEAKIVELRKSLEEKKSTCGLLETQIKKL
                     HNDLYFIKKAHSKNSDEKQSLMTKINELNLFIDRSEKELDKAKGFKQDLMIEDNLLKL
                     EVKRTREMLHSKAEEVLSLEKRKQQLYTAMEERTEEIKVHKTMLASQIRYVDQERENI
                     STEFRERLSKIEKLKNRYEILTVVMLPPEGEEEKTQAYYVIKAAQEKEELQREGDCLD
                     AKINKAEKEIYALENTLQVLNSCNNNYKQSFKKVTPSSDEYELKIQLEEQKRAVDEKY
                     RYKQRQIRELQEDIQSMENTLDVIEHLANNVKEKLSEKQAYSFQLSKETEEQKPKLER
                     VTKQCAKLTKEIRLLKDTKDETMEEQDIKLREMKQFHKVIDEMLVDIIEENTEIRIIL
                     QTYFQQSGLELPTASTKGSRQSSRSPSHTSLSARSSRSTSTSTSQSSIKVLELKFPAS
                     SSLVGSPSRPSSASSSSSNVKSKKSSK"
     exon            200..319
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            320..466
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            467..625
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            626..718
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            719..847
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            848..1039
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..1143
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1276
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1471
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1636
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            1637..1774
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            1775..1983
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..2107
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            2108..2267
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            2268..2374
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            2375..2515
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            2516..2695
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            2696..2778
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     exon            2779..3848
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3829..3834
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /note="hexamer: AATAAA"
     polyA_site      3848
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /note="major polyA site"
ORIGIN      
        1 ggcaattgcc gcggcactgt gcaggtgcct gggcttgacg cgggtgctgc tcacccgctg
       61 tacaagaagg cggatctttg ctctgtatct tctctatccg tttgcagtca tgagtagcga
      121 attcctggct gagctgcact gggaggatgg gttcgccatc ccggtggcga acgaggagaa
      181 caagctactg gaagatcagt tgtcaaagct gaaggatgaa agagcaagct tgcaagatga
      241 gttacgtgag tatgaagagc gaattaattc tatgacttct cacttcaaaa atgttaagca
      301 agagctctca attacacagt ctctttgcaa agcaagggag cgtgagactg aaagtgaaga
      361 acattttaag gccattgctc aaagagaatt gggacgagtg aaagatgaaa ttcaacggct
      421 ggaaaatgag atggcttcaa tactggaaaa gaaaagtgat aaagaaaatg gcatatttaa
      481 agccactcaa aaattggatg gtttgaaatg tcaaatgaac tgggaccagc aagcattgga
      541 ggcctggtta gaagaatcag ctcataaaga tagtgatgct ctcactctcc agaagtatgc
      601 acaacaagat gataataaaa tcagggcact gactctgcaa ttagaaagac taactttgga
      661 atgtaatcag aaaagaaaga tacttgacaa cgaacttaca gagactataa gcgcacagtt
      721 agaattggat aaagcagcac aagattttcg taagattcat aatgaaagac aagaactcat
      781 taaacaatgg gagaacacaa tagaacagat gcagaagagg gatggagaca tagataactg
      841 tgctttggaa ttagcaagga taaagcagga aacgagagaa aaagaaaatt tggttaaaga
      901 aaagatcaag tttttggaaa gtgagattgg gaataacaca gagtttgaga aaagaatttc
      961 tgtggctgat cgtaaacttt taaaatgtag aacggcatat caggaccatg aaactagtag
     1021 aattcagctg aagggtgagc tggattcttt aaaagccact gtgaatagaa cttccagtga
     1081 tttagaagct ctgaggaaaa atatttccaa gataaagaag gacattcatg aagaaacagc
     1141 aaggttacaa aaaactaaaa atcataatga gataatacaa acaaaattaa aggagataac
     1201 tgagaaaacc atgtctgtag aagagaaagc tactaatttg gaagatatgc taaaggagga
     1261 ggaaaaagat gtgaaggaag tagatgttca actgaacctc ataaaaggtg tgctgtttaa
     1321 gaaagctcag gagttacaga ctgagacaat gaaagaaaaa gctgttttat cagaaattga
     1381 aggaactcgt tcctctctga aacatctcaa ccatcagtta caaaaactgg attttgaaac
     1441 cttgaagcag caagaaatta tgtacagcca ggattttcac attcaacaag tggaacggag
     1501 aatgtcacgg ttaaagggag aaattaattc agaagaaaaa caagcgcttg aagcaaaaat
     1561 tgttgaactt aggaagtctt tggaagagaa aaaatctaca tgtggccttt tggaaacaca
     1621 gatcaagaag cttcataatg atctttattt tatcaagaag gcacatagta aaaacagtga
     1681 tgaaaaacag tcccttatga ccaaaataaa tgaactaaac cttttcatcg acagatcaga
     1741 gaaagaactt gataaagcca aaggttttaa gcaggatttg atgatagagg acaatctttt
     1801 aaaacttgaa gttaagcgta ctcgagaaat gcttcacagt aaggcagaag aagttctttc
     1861 cctagaaaaa agaaaacagc aattatacac agcaatggaa gagcgaactg aagaaatcaa
     1921 ggttcataaa acaatgcttg cgtcacaaat aagatatgtt gatcaagaac gggaaaacat
     1981 aagcactgag tttcgcgagc ggctaagtaa aattgagaag ctgaagaata gatatgaaat
     2041 tctgactgtt gttatgctgc ctcctgaagg agaagaggag aaaacacagg cctattatgt
     2101 aataaaggct gctcaagaaa aagaagaact tcaaagggaa ggtgactgtt tggatgccaa
     2161 gatcaacaaa gctgaaaaag aaatctacgc tctagaaaat acccttcaag tgctgaacag
     2221 ctgtaacaac aattataagc aatcttttaa aaaagtgact ccatctagtg atgagtatga
     2281 gctaaaaatt caactagaag aacaaaaaag agctgttgat gaaaaataca gatacaaaca
     2341 aagacaaatc agagaacttc aagaagacat ccagagcatg gaaaatacat tagatgttat
     2401 agaacatttg gcaaataatg ttaaagaaaa gttatcagag aagcaggctt attcatttca
     2461 actaagtaaa gaaacggagg agcagaagcc aaaattagaa agagtgacca aacagtgtgc
     2521 aaaactcaca aaggaaatcc gtcttttgaa agacacaaaa gatgaaacaa tggaagaaca
     2581 agacatcaaa cttcgtgaaa tgaaacagtt tcacaaagtt attgatgaaa tgttagttga
     2641 tatcatagaa gaaaatactg agatccgtat tatccttcaa acatactttc aacagagtgg
     2701 gttagaacta cctacagcta gcacaaaagg cagtcgtcag agctctagat ctccttcaca
     2761 tacttcacta tcagcaaggt catctaggag tacaagtaca tctacttctc agtcttcaat
     2821 taaagtactg gagcttaaat tcccggcctc ctcttcacta gtaggcagcc cttctaggcc
     2881 atctagtgct agtagtagct ctagtaatgt taagagcaaa aagagcagca aataaacatt
     2941 ttaatctctt ctgaaaaagt tgtaaacaca aaaacaaaaa tatactttaa aatacaaaac
     3001 gacccaacac attttatcta gtggaaagtg taaaaactta gtggtaagtg taaaaactga
     3061 tagttttaaa aaaaaaggaa cgttctcatt ttctctactg ttttcttcat actgaagaaa
     3121 ttaatagcag attcttgaca aggctacatg ttatacaagc ataggaaaaa tgctgtattt
     3181 cactgtaatt ctgatgttcg tagtgttaga aaatagtttg cttcattatt tcacgaaact
     3241 acactcactt ctaatgtaac aatctttcaa gaagaaattt ctaaagattt actgtactat
     3301 tatgagcgta ttgcaatgtg aaaatctcat ttaccctaca agacaccaaa attaggtttt
     3361 ctttattcaa agtaactatt tctcagactt ttggggagaa aaattgttaa aggcagtttc
     3421 ttcttttgct ataattttta accaaaaaat agcatcaacc cctacccacc ccaccccccc
     3481 aaaaaaaaac cggtaagaga aacactgtat atcaatttta aaatgcagca taaatttaga
     3541 aaaatcactt ctgaccttga aataaatcac ttctgacctt gaaataaacg cattaaagat
     3601 ttgctttcag atacagccaa ccaagtataa acaattttga aattttcttg atttaataaa
     3661 cgatttaatg aaagctaggt atgacttgat ttgcaataga aatttcattt acagttggag
     3721 gtagactgcc aaatgtagta gtttttccag ttaacacttc attataacat gtgcccaaca
     3781 ctttgtactc ttggaataga gtgtggaata ttataaaact ggattttaaa taaatgtatt
     3841 agaattca
//
