LOCUS       NM_213607               3442 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens dynein axonemal assembly factor 19 (DNAAF19),
            transcript variant 1, mRNA.
ACCESSION   NM_213607
VERSION     NM_213607.3
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 3442)
  AUTHORS   Zubair,M., Khan,R., Ma,A., Hameed,U., Khan,M., Abbas,T., Ahmad,R.,
            Zhou,J.T., Shah,W., Hussain,A., Ahmed,N., Khan,I., Khan,K.,
            Zhang,Y.W., Zhang,H., Wu,L.M. and Shi,Q.H.
  TITLE     A recurrent homozygous missense mutation in CCDC103 causes
            asthenoteratozoospermia due to disorganized dynein arms
  JOURNAL   Asian J Androl 24 (3), 255-259 (2022)
   PUBMED   35259782
  REMARK    GeneRIF: A recurrent homozygous missense mutation in CCDC103 causes
            asthenoteratozoospermia due to disorganized dynein arms.
REFERENCE   2  (bases 1 to 3442)
  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   3  (bases 1 to 3442)
  AUTHORS   King,S.M. and Patel-King,R.S.
  TITLE     The outer dynein arm assembly factor CCDC103 forms molecular
            scaffolds through multiple self-interaction sites
  JOURNAL   Cytoskeleton (Hoboken) 77 (1-2), 25-35 (2020)
   PUBMED   31858719
  REMARK    GeneRIF: The outer dynein arm assembly factor CCDC103 forms
            molecular scaffolds through multiple self-interaction sites.
REFERENCE   4  (bases 1 to 3442)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3442)
  AUTHORS   Pereira,R., Oliveira,M.E., Santos,R., Oliveira,E., Barbosa,T.,
            Santos,T., Goncalves,P., Ferraz,L., Pinto,S., Barros,A.,
            Oliveira,J. and Sousa,M.
  TITLE     Characterization of CCDC103 expression profiles: further insights
            in primary ciliary dyskinesia and in human reproduction
  JOURNAL   J Assist Reprod Genet 36 (8), 1683-1700 (2019)
   PUBMED   31273583
  REMARK    GeneRIF: Pathogenic variants in CCDC103 are associated with primary
            ciliary dyskinesia.
REFERENCE   6  (bases 1 to 3442)
  AUTHORS   Shoemark,A., Moya,E., Hirst,R.A., Patel,M.P., Robson,E.A.,
            Hayward,J., Scully,J., Fassad,M.R., Lamb,W., Schmidts,M., Dixon,M.,
            Patel-King,R.S., Rogers,A.V., Rutman,A., Jackson,C.L., Goggin,P.,
            Rubbo,B., Ollosson,S., Carr,S., Walker,W., Adler,B.,
            Loebinger,M.R., Wilson,R., Bush,A., Williams,H., Boustred,C.,
            Jenkins,L., Sheridan,E., Chung,E.M.K., Watson,C.M., Cullup,T.,
            Lucas,J.S., Kenia,P., O'Callaghan,C., King,S.M., Hogg,C. and
            Mitchison,H.M.
  TITLE     High prevalence of CCDC103 p.His154Pro mutation causing primary
            ciliary dyskinesia disrupts protein oligomerisation and is
            associated with normal diagnostic investigations
  JOURNAL   Thorax 73 (2), 157-166 (2018)
   PUBMED   28790179
  REMARK    GeneRIF: The CCDC103 p.His154Pro mutation is more prevalent than
            previously thought in the South Asian community in the UK and
            causes primary ciliary dyskinesia that can be difficult to diagnose
            using pathology-based clinical tests.
REFERENCE   7  (bases 1 to 3442)
  AUTHORS   Casey,J.P., Goggin,P., McDaid,J., White,M., Ennis,S., Betts,D.R.,
            Lucas,J.S., Elnazir,B. and Lynch,S.A.
  TITLE     A case report of primary ciliary dyskinesia, laterality defects and
            developmental delay caused by the co-existence of a single gene and
            chromosome disorder
  JOURNAL   BMC Med Genet 16, 45 (2015)
   PUBMED   26123568
  REMARK    GeneRIF: A variable and complex phenotype caused by the
            co-inheritance of a single gene mutation in CCDC103 and a
            microduplication at 17q12, both on chromosome 17.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3442)
  AUTHORS   Tarkar,A., Loges,N.T., Slagle,C.E., Francis,R., Dougherty,G.W.,
            Tamayo,J.V., Shook,B., Cantino,M., Schwartz,D., Jahnke,C.,
            Olbrich,H., Werner,C., Raidt,J., Pennekamp,P., Abouhamed,M.,
            Hjeij,R., Kohler,G., Griese,M., Li,Y., Lemke,K., Klena,N., Liu,X.,
            Gabriel,G., Tobita,K., Jaspers,M., Morgan,L.C., Shapiro,A.J.,
            Letteboer,S.J., Mans,D.A., Carson,J.L., Leigh,M.W., Wolf,W.E.,
            Chen,S., Lucas,J.S., Onoufriadis,A., Plagnol,V., Schmidts,M.,
            Boldt,K., Roepman,R., Zariwala,M.A., Lo,C.W., Mitchison,H.M.,
            Knowles,M.R., Burdine,R.D., Loturco,J.J. and Omran,H.
  CONSRTM   UK10K
  TITLE     DYX1C1 is required for axonemal dynein assembly and ciliary
            motility
  JOURNAL   Nat Genet 45 (9), 995-1003 (2013)
   PUBMED   23872636
REFERENCE   9  (bases 1 to 3442)
  AUTHORS   Panizzi,J.R., Becker-Heck,A., Castleman,V.H., Al-Mutairi,D.A.,
            Liu,Y., Loges,N.T., Pathak,N., Austin-Tse,C., Sheridan,E.,
            Schmidts,M., Olbrich,H., Werner,C., Haffner,K., Hellman,N.,
            Chodhari,R., Gupta,A., Kramer-Zucker,A., Olale,F., Burdine,R.D.,
            Schier,A.F., O'Callaghan,C., Chung,E.M., Reinhardt,R.,
            Mitchison,H.M., King,S.M., Omran,H. and Drummond,I.A.
  TITLE     CCDC103 mutations cause primary ciliary dyskinesia by disrupting
            assembly of ciliary dynein arms
  JOURNAL   Nat Genet 44 (6), 714-719 (2012)
   PUBMED   22581229
  REMARK    GeneRIF: These results identify Ccdc103 as a dynein arm attachment
            factor that causes primary ciliary dyskinesia when mutated.
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 3442)
  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 DA185416.1, AK023156.1,
            AK289760.1, AC015936.14 and BQ448043.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_213607.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK023156.1, SRR1660809.191446.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000417826.3/ ENSP00000391692.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                DA185416.1         18-62
            46-53               AK023156.1         1-8
            54-323              AK289760.1         1-270
            324-324             AC015936.14        75881-75881
            325-1535            AK289760.1         272-1482
            1536-1731           BQ448043.1         19-214              c
            1732-3442           AC015936.14        78001-79711
FEATURES             Location/Qualifiers
     source          1..3442
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..3442
                     /gene="DNAAF19"
                     /gene_synonym="CCDC103; CILD17; PR46b; SMH"
                     /note="dynein axonemal assembly factor 19"
                     /db_xref="GeneID:388389"
                     /db_xref="HGNC:HGNC:32700"
                     /db_xref="MIM:614677"
     exon            1..131
                     /gene="DNAAF19"
                     /gene_synonym="CCDC103; CILD17; PR46b; SMH"
                     /inference="alignment:Splign:2.1.0"
     exon            132..283
                     /gene="DNAAF19"
                     /gene_synonym="CCDC103; CILD17; PR46b; SMH"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..869
                     /gene="DNAAF19"
                     /gene_synonym="CCDC103; CILD17; PR46b; SMH"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 103; coiled-coil
                     domain containing 103"
                     /codon_start=1
                     /product="dynein axonemal assembly factor 19 isoform 1"
                     /protein_id="NP_998772.1"
                     /db_xref="CCDS:CCDS11490.1"
                     /db_xref="GeneID:388389"
                     /db_xref="HGNC:HGNC:32700"
                     /db_xref="MIM:614677"
                     /translation="MERNDIINFKALEKELQAALTADEKYKRENAAKLRAVEQRVASY
                     EEFRGIVLASHLKPLERKDKMGGKRTVPWNCHTIQGRTFQDVATEISPEKAPLQPETS
                     ADFYRDWRRHLPSGPERYQALLQLGGPRLGCLFQTDVGFGLLGELLVALADHVGPADR
                     AAVLGILCSLASTGRFTLNLSLLSRAERESCKGLFQKLQAMGNPRSVKEGLSWEEQGL
                     EEQSGGLQEEERLLQELLELYQVD"
     exon            284..416
                     /gene="DNAAF19"
                     /gene_synonym="CCDC103; CILD17; PR46b; SMH"
                     /inference="alignment:Splign:2.1.0"
     exon            417..3442
                     /gene="DNAAF19"
                     /gene_synonym="CCDC103; CILD17; PR46b; SMH"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1024
                     /gene="DNAAF19"
                     /gene_synonym="CCDC103; CILD17; PR46b; SMH"
                     /note="major polyA site"
     regulatory      1711..1716
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF19"
                     /gene_synonym="CCDC103; CILD17; PR46b; SMH"
                     /note="hexamer: AATAAA"
     polyA_site      1745
                     /gene="DNAAF19"
                     /gene_synonym="CCDC103; CILD17; PR46b; SMH"
                     /note="major polyA site"
     polyA_site      3442
                     /gene="DNAAF19"
                     /gene_synonym="CCDC103; CILD17; PR46b; SMH"
ORIGIN      
        1 agctgcgggc gtggtctgcg cggggttgcc ctcctgttct ggtttatcag gggatcccca
       61 aagaaagcaa ggggaccaag gccgggactg ctggggtgaa ggtccgggag gctgagtaag
      121 gggacggaag ggcacaggcc atggaaagga atgacatcat caacttcaag gctttggaga
      181 aagagctgca ggctgcactc actgctgatg agaagtacaa acgggagaat gctgccaagt
      241 tacgggcagt ggaacagagg gtggcttcct atgaggagtt caggggtatt gtccttgcat
      301 cacatctgaa gccactggag cggaaggata agatgggagg aaagagaact gtgccctgga
      361 actgtcacac tattcaggga aggaccttcc aggatgtggc cactgaaatc tccccggaga
      421 aagcccccct ccagcccgag acgtctgctg acttctatcg tgattggcga cgacacttgc
      481 caagtgggcc agagcgctac caggctctac tgcagcttgg gggtccaagg ctcggctgcc
      541 tcttccagac agatgtggga tttggacttc ttggggagct gctggtggca ctggctgatc
      601 acgtggggcc ggctgaccgg gcagcggtgc tggggatcct atgcagcctg gcgagcactg
      661 ggcgcttcac cctgaaccta agcctgctga gccgggcaga gagagagagc tgcaagggct
      721 tgtttcagaa gctgcaagcc atgggcaacc ccagatccgt gaaggagggg ctcagctggg
      781 aggagcaggg tctggaggag cagtctggtg ggctccagga ggaggagagg ctcctgcagg
      841 agctgctgga gctgtaccag gttgactgat gcggcaagct accctcagag gtcccagtgg
      901 tcactggagg cagttttttg gttgttgtct tgggggttct gcaggaccat aataagaaac
      961 ccacacctgg ttcccttctc aacttggaat tttcagagca aaaacaggaa tcaagtcttc
     1021 cccacttctc cagtccctca gtgtctcgct gttttgaact gtgtgtatcc atggacagtc
     1081 aagagctcag gaagttgaga gcggttttgt ttcccaccct tagagtctgc caagcctcta
     1141 gcccactggc cttgagagat gagtgtgtgc ccaaccaaat gctggctata ccagttacag
     1201 cctccactca taaaagggaa aaagcaaaat ctttatggta aacaaacact gatctccaca
     1261 gctcttaaca agaatgttta tagccccaaa ccaatgaatg gacatgtaat caacaaatga
     1321 tcaaatacta catcatttga ggtgttgaat tttcccctag agactcagtt cttgtgcagg
     1381 ttgggcctgg gaaagtccca agccatcagc tcaggtccag ccagcctccc ggatggccag
     1441 atatgcagga gggtgggttt ccttcatccc ccaggttgat gaaagacttt tccaccaggc
     1501 tggcagggca gggcctggag cactgaggca gagatctccc tgcccgagca cctcggcccg
     1561 cccttctcat tccggtttcc tttgacccat tcttgggtga gcgccagtgt tctagaaagg
     1621 ggagtaaagg ccaggttcta gaatggcttt ccccccccac cctgagatca ggtctggaat
     1681 gttagaaggg catcttgtac atccactggg aataaattgc cttgcacttg gcggcttcct
     1741 ctgcagattg ttgctgcttt tcctggctgc ataatccttt cctcatctag aggcttccgc
     1801 ttagcagagc tttctaggag ccctatgagc ctttaatgcc ctggttttgc cctgcccctc
     1861 tgacccctgc ctccttcagg tatgcacctg gccctcacca ctgtgctcct gtgggcatgg
     1921 gggctccagg cctttgaaat tgtggagaag gaaaacattt ttcagaggac cccctgccct
     1981 gctttcctga tgtttgaaaa tgcagcctac ctggccgaca tgagctttga gcttccctgt
     2041 cactgcaaac ccgaagaggt gccagctgta gtctggttct accaaaagca cctaggtagc
     2101 agccacacca aagtgctgac ggactttgat gggcgggtgc tgacggaggc agcccaggta
     2161 cgtgtgggca gcgacatgct gacccgcttc agcatccgca tgttcagctt gttggttttc
     2221 agggctcagt ctgaggactc aggcctgtac ttctgcggca cccgcaaggg ggactacttt
     2281 tacgcctacg atgtggacat ccagaacagt gagggaatgg tggccacttt ccaggacaag
     2341 ggccaggagc cctttgcaga tgaatactat gggcacctcc atgtcttcac caccttctgg
     2401 gaatggaccc cctgtgaccg ctgcggagtg cgtggggagc agtggcgcat cggcctctgc
     2461 tacctgcaga gcccagacct ctccccacgc tacctcaagg ccgtgcccga tgtggtgtct
     2521 tgtggctcaa gggctgtgcc aaggaagctg cggaccaagg ccagggacca cacgcctgag
     2581 gtgctggttc ggagctgctt agtaccctgt gagaagacaa agaccatccg ggagggcgtg
     2641 ctggccatca ttaactatgt gtccaaagtg ggcagccggc cctgggtgcc ccaggtgccc
     2701 attcagttcc accagcagag actgggccat ggactcatca tctcctgtcc tggggcccgg
     2761 ccagagcatg cagtggcctg ggacaaagac cgccagcacc tctaccgcac acagtacctg
     2821 aagggtgtca acaggtccat gagggtgttc attgaccacg gcaaccagct ccacatccgc
     2881 ttcacccagc tggatgaccg gggcatctac tattgctgga ggcagggtgt gctagttgct
     2941 ggcttccggc tgggtgtgac atctcatggg cactacccag cctcgttctc agatcctgag
     3001 actcgctcgg ctgtggagct caccctgata ggctacctgc tcatcacagc agtctttgtc
     3061 accattcact tctgtcgttg ctgctgctac ttatttcact gttgtcccag cttctccccc
     3121 taggagctct cttcagctct gaagaccagt tgtccttcaa tgtgtttgtt aaatgatacc
     3181 agatgtctct gggtgggtac cctgggttgg gacaggtggt aggaacatgt ggacaaatct
     3241 gttacagcct gctccccatt ttcatgggca ggtctgggac ctgatctgag aagtggaggg
     3301 gcctgaggct ggtgggagat tggggactga gctcaggatg gaagtagggc acatgtgttt
     3361 cctgacttca catttaggtc agagaaggaa agtgtgaact cagatttatc cagtggtaaa
     3421 cactgatcag tgttgaatca tg
//
