LOCUS       NM_001364171            2995 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens outer dynein arm docking complex subunit 1 (ODAD1),
            transcript variant 1, mRNA.
ACCESSION   NM_001364171 XM_005259413
VERSION     NM_001364171.2
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 2995)
  AUTHORS   Kos,R., Israels,J., van Gogh,C.D.L., Altenburg,J., Diepenhorst,S.,
            Paff,T., Boon,E.M.J., Micha,D., Pals,G., Neerincx,A.H.,
            Maitland-van der Zee,A.H. and Haarman,E.G.
  CONSRTM   Amsterdam Mucociliary Clearance Disease (AMCD) Research Group
  TITLE     Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic
            features in patients with a CCDC114 mutation
  JOURNAL   Am J Med Genet C Semin Med Genet 190 (1), 89-101 (2022)
   PUBMED   35343062
  REMARK    GeneRIF: Primary ciliary dyskinesia in Volendam: Diagnostic and
            phenotypic features in patients with a CCDC114 mutation.
REFERENCE   2  (bases 1 to 2995)
  AUTHORS   Braschi,B., Omran,H., Witman,G.B., Pazour,G.J., Pfister,K.K.,
            Bruford,E.A. and King,S.M.
  TITLE     Consensus nomenclature for dyneins and associated assembly factors
  JOURNAL   J Cell Biol 221 (2) (2022)
   PUBMED   35006274
REFERENCE   3  (bases 1 to 2995)
  AUTHORS   Ostrowski,L.E., Yin,W., Smith,A.J., Sears,P.R.,
            Bustamante-Marin,X.M., Dang,H., Hildebrandt,F., Daniels,L.A.,
            Capps,N.A., Sullivan,K.M., Leigh,M.W., Zariwala,M.A. and
            Knowles,M.R.
  TITLE     Expression of a Truncated Form of ODAD1 Associated with an
            Unusually Mild Primary Ciliary Dyskinesia Phenotype
  JOURNAL   Int J Mol Sci 23 (3), 1753 (2022)
   PUBMED   35163670
  REMARK    GeneRIF: Expression of a Truncated Form of ODAD1 Associated with an
            Unusually Mild Primary Ciliary Dyskinesia Phenotype.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2995)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 2995)
  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   6  (bases 1 to 2995)
  AUTHORS   Hjeij,R., Onoufriadis,A., Watson,C.M., Slagle,C.E., Klena,N.T.,
            Dougherty,G.W., Kurkowiak,M., Loges,N.T., Diggle,C.P.,
            Morante,N.F., Gabriel,G.C., Lemke,K.L., Li,Y., Pennekamp,P.,
            Menchen,T., Konert,F., Marthin,J.K., Mans,D.A., Letteboer,S.J.,
            Werner,C., Burgoyne,T., Westermann,C., Rutman,A., Carr,I.M.,
            O'Callaghan,C., Moya,E., Chung,E.M., Sheridan,E., Nielsen,K.G.,
            Roepman,R., Bartscherer,K., Burdine,R.D., Lo,C.W., Omran,H. and
            Mitchison,H.M.
  CONSRTM   UK10K Consortium
  TITLE     CCDC151 mutations cause primary ciliary dyskinesia by disruption of
            the outer dynein arm docking complex formation
  JOURNAL   Am J Hum Genet 95 (3), 257-274 (2014)
   PUBMED   25192045
REFERENCE   7  (bases 1 to 2995)
  AUTHORS   Wu,D.H. and Singaraja,R.R.
  TITLE     Loss-of-function mutations in CCDC114 cause primary ciliary
            dyskinesia
  JOURNAL   Clin Genet 83 (6), 526-527 (2013)
   PUBMED   23506398
REFERENCE   8  (bases 1 to 2995)
  AUTHORS   Onoufriadis,A., Paff,T., Antony,D., Shoemark,A., Micha,D., Kuyt,B.,
            Schmidts,M., Petridi,S., Dankert-Roelse,J.E., Haarman,E.G.,
            Daniels,J.M., Emes,R.D., Wilson,R., Hogg,C., Scambler,P.J.,
            Chung,E.M., Pals,G. and Mitchison,H.M.
  CONSRTM   UK10K
  TITLE     Splice-site mutations in the axonemal outer dynein arm docking
            complex gene CCDC114 cause primary ciliary dyskinesia
  JOURNAL   Am J Hum Genet 92 (1), 88-98 (2013)
   PUBMED   23261303
  REMARK    GeneRIF: Splice-site mutations in the axonemal outer dynein arm
            docking complex gene CCDC114 cause primary ciliary dyskinesia
REFERENCE   9  (bases 1 to 2995)
  AUTHORS   Knowles,M.R., Leigh,M.W., Ostrowski,L.E., Huang,L., Carson,J.L.,
            Hazucha,M.J., Yin,W., Berg,J.S., Davis,S.D., Dell,S.D.,
            Ferkol,T.W., Rosenfeld,M., Sagel,S.D., Milla,C.E., Olivier,K.N.,
            Turner,E.H., Lewis,A.P., Bamshad,M.J., Nickerson,D.A., Shendure,J.
            and Zariwala,M.A.
  CONSRTM   Genetic Disorders of Mucociliary Clearance Consortium
  TITLE     Exome sequencing identifies mutations in CCDC114 as a cause of
            primary ciliary dyskinesia
  JOURNAL   Am J Hum Genet 92 (1), 99-106 (2013)
   PUBMED   23261302
  REMARK    GeneRIF: These results revealed that mutations in CCDC114 are a
            cause of ciliary dysmotility and PCD and further demonstrate the
            utility of exome sequencing to identify genetic causes in
            heterogeneous recessive disorders.
REFERENCE   10 (bases 1 to 2995)
  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
            HY002728.1, HY026155.1, AK128144.1, BC117431.1, AL122083.1 and
            AC008392.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001364171.1.
            
            Summary: This gene encodes a coiled-coil domain-containing protein
            that is a component of the outer dynein arm docking complex in
            cilia cells. Mutations in this gene may cause primary ciliary
            dyskinesia 20. [provided by RefSeq, May 2013].
            
            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 :: SRR14038191.3835011.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000674294.1/ ENSP00000501363.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                HY002728.1         57-121
            66-126              HY026155.1         2-62
            127-1286            AK128144.1         90-1249
            1287-2652           BC117431.1         300-1665
            2653-2993           AL122083.1         1558-1898
            2994-2995           AC008392.6         52899-52900         c
FEATURES             Location/Qualifiers
     source          1..2995
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..2995
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /note="outer dynein arm docking complex subunit 1"
                     /db_xref="GeneID:93233"
                     /db_xref="HGNC:HGNC:26560"
                     /db_xref="MIM:615038"
     exon            1..294
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            295..334
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            335..427
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     CDS             358..2481
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 114; coiled-coil
                     domain containing 114"
                     /codon_start=1
                     /product="outer dynein arm-docking complex subunit 1
                     isoform 1"
                     /protein_id="NP_001351100.1"
                     /db_xref="CCDS:CCDS92659.1"
                     /db_xref="GeneID:93233"
                     /db_xref="HGNC:HGNC:26560"
                     /db_xref="MIM:615038"
                     /translation="MPLGRLAGSARSEEGSEAFLEGMVDWELSRLQRQCKVMEGERRA
                     YSKEVHQRINKQLEEIRRLEEVRGDLQVQISAAQNQVKRLRDSQRLENMDRLLKGRAQ
                     VQAEIEELQEQTRALDKQIQEWETRIFTHSKNVRSPGFILDQKVKIRRRIRILENQLD
                     RVTCHFDNQLVRNAALREELDLLRIDRNRYLNVDRKLKKEIHHLHHLVSTLILSSTSA
                     YAVREEAKAKMGLLRERAEKEEAQSEMEAQVLQRQILHLEQLHHFLKLKNNDRQPDPD
                     VLEKREKQAGEVAEGVWKTSQERLVLCYEDALNKLSQLMGESDPDLLVQKYLEIEERN
                     FAEFNFINEQNLELEHVQEEIKEMQEALVSARASKDDQHLLQEQQQKVLQQRMDKVHS
                     EAERLEARFQDVRGQLEKLKADIQLLFTKAHCDSSMIDDLLGVKTSMGDRDMGLFLSL
                     IEKRLVELLTVQAFLHAQSFTSLADAALLVLGQSLEDLPKKMAPLQPPDTLEDPPGFE
                     ASDDYPMSREELLSQVEKLVELQEQAEAQRQKDLAAAAAKLDGTLSVDLASTQRAGSS
                     TVLVPTRHPHAIPGSILSHKTSRDRGSLGHVTFGGLSSSTGHLPSHITHGDPNTGHVT
                     FGSTSASSGGHVTFRPVSASSYLGSTGYVGSSRGGENTEGGVESGGTASDSSGGLGSS
                     RDHVSSTGPASSTGPGSSTSKDSRG"
     exon            428..527
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            528..717
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            718..840
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            841..954
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1022
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1210
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1345
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1428
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1597
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            1598..1761
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            1762..1859
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            1860..1938
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     exon            1939..2995
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2975..2980
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /note="hexamer: AATAAA"
     polyA_site      2995
                     /gene="ODAD1"
                     /gene_synonym="CCDC114; CILD20"
                     /note="major polyA site"
ORIGIN      
        1 ccgccctcca gcgcgcggac gtggtaggcg gccaagcgtt tttggctgct tcccgggaag
       61 ccgttggtcg cgcttgcgta gtgaaccgct gaggctgtgt tgagcgctcc ttctccgcgc
      121 aactcccggc ttcgacaccg ccttccttcc tatgaatcct taatttaacg tggtcacagt
      181 cagcttaaga ccggcacctc tcgggctccg tcttgtagga cctcggcctg gcttcgaggg
      241 cttccataca ggtcaccgca ggctctttca actcccgccg cttccaggcc cgcgtaacca
      301 gaccacaaca ctgaacttgg agcaccaaga acaggagccc caccctgttt ggccaggatg
      361 cctttgggac gcttggcagg gagcgcccgc tccgaggagg gaagcgaggc atttctggag
      421 ggaatggtgg attgggagct gagtaggctg cagcgacaat gcaaagtgat ggaaggggag
      481 aggcgggcct acagcaagga agtccaccag cgcatcaaca agcaacttga ggagatccgg
      541 cgcttggagg aggtacgggg cgatctccag gtgcagatca gcgcagccca gaaccaggtc
      601 aagcggcttc gggacagtca gcggctggag aacatggacc gcctgctgaa gggccgggcc
      661 caggtgcagg cggagatcga ggagctgcag gagcagacca gggccctgga caagcagatc
      721 caggagtggg agacgcggat ctttacccac agtaagaatg tcaggtcccc gggattcatc
      781 ctggatcaga aggtcaagat caggcgaagg atcaggatcc tagaaaacca gttggacagg
      841 gtcacctgtc actttgacaa ccagctggta cggaatgcgg ccctgcggga ggagctggat
      901 ctgctgcgga tcgacaggaa ccgctatctg aacgtggacc gcaagctgaa gaaggagatc
      961 caccacctgc atcacctggt cagcaccctt atcctctcct ccacctctgc ctacgccgtc
     1021 agggaggagg cgaaggccaa gatgggcttg ctgcgggagc gcgcggagaa agaggaggcc
     1081 cagagcgaga tggaggcgca ggtcctgcag cggcagatct tgcacctgga gcagctgcac
     1141 cacttcctca agctcaagaa caacgaccgg cagccggatc ccgatgtcct ggagaagcgt
     1201 gaaaagcagg ccggggaggt ggccgagggc gtctggaaga cctcccagga gaggctggtg
     1261 ctttgctacg aggacgccct gaataaactg tcccagctga tgggggagag tgaccctgac
     1321 ctgttggtgc agaagtatct ggagatcgag gagcgcaact ttgctgagtt caacttcatc
     1381 aacgagcaga acttggagct ggagcatgtg caggaagaga tcaaggagat gcaggaggct
     1441 ttggtgagcg cacgtgccag caaggatgac cagcatttgc tgcaggagca gcagcagaag
     1501 gtgttgcagc agcgcatgga caaggtgcac tcggaggctg agcgccttga ggcccgcttc
     1561 caggatgtgc ggggacagct ggagaagctc aaggctgata tccagctcct cttcaccaag
     1621 gcccattgcg acagcagcat gatcgatgac ctccttgggg tcaagaccag catgggagac
     1681 cgggacatgg gcctcttcct gagcctcatt gagaagcggc tggtggagct cctgacagtg
     1741 caggccttcc tacatgccca gagcttcacc tccctggccg acgctgccct cctagtgctg
     1801 ggccagagcc tggaggacct tccgaagaag atggccccac ttcagccccc tgacactcta
     1861 gaagaccccc cgggttttga ggccagcgat gactacccca tgagcaggga ggagctgctg
     1921 agccaagtgg agaagctggt ggagctccag gagcaggcgg aggcgcagcg ccagaaggac
     1981 ctggccgccg ccgccgcgaa gctggacggc accctgagcg tggacctggc cagcacccag
     2041 agggccggct ccagtaccgt cctggtgccc accaggcacc cccatgccat ccccgggtcc
     2101 attttgagcc acaagactag cagagaccgt ggctctcttg gccacgtcac ttttggcggc
     2161 ctcagctcca gcactgggca tttgcccagc cacatcacgc acggtgaccc caacactggc
     2221 cacgtgacct tcggctccac cagtgcctcg agtgggggcc acgtgacctt cagacccgtc
     2281 agcgccagca gctacctggg ctccactgga tacgtggggt ccagcagggg cggagaaaac
     2341 acagagggtg gtgtggagag cggaggcaca gcgtctgatt cgagcggagg cctcgggtcc
     2401 agcagagacc acgtctccag caccggccct gcctccagca ctggcccggg ctcctccacc
     2461 agcaaagact cccggggcta acacgagggg cacgcagccc ccaccctgcc ctggctctct
     2521 gtggggtctt tttttgtgtc tctacttccc ctgtttgcct tgtgggtctc tgtctttttc
     2581 tcccagtggc aggcctctgt ctttttgccc cttcaactgt tttcatctgc ccttcatcac
     2641 cgcctcacct gtgtctcccg gttcctttct ctctgctcct gacactgctt ttccctctga
     2701 ctcctgatct cctgttctct gggcttcctg gtcagtgtct gtccgtcttg tctccatatc
     2761 tgccccttcc ctgtctgctg agccctggcc ccctgtggat cccccacctc ctgtttccgg
     2821 ctctctctcc tcatctccat ctcccaggct ctccacgcat cctgtgtccc tgtctctgta
     2881 gctccttact ccccaagagc cccccagtgc tgacaggtgt gggaaaagtc agggcgaaga
     2941 cgccaggttc agcatgggaa aatgggactg tggaaataaa gtatatgtgt ggaga
//
