LOCUS       NM_178452               2388 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens dynein axonemal assembly factor 1 (DNAAF1), transcript
            variant 1, mRNA.
ACCESSION   NM_178452
VERSION     NM_178452.6
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 2388)
  AUTHORS   Andres-Benito,P., Povedano,M., Torres,P., Portero-Otin,M. and
            Ferrer,I.
  TITLE     Altered Dynein Axonemal Assembly Factor 1 Expression in C-Boutons
            in Bulbar and Spinal Cord Motor-Neurons in Sporadic Amyotrophic
            Lateral Sclerosis
  JOURNAL   J Neuropathol Exp Neurol 78 (5), 416-425 (2019)
   PUBMED   30939186
  REMARK    GeneRIF: DNAAF1 mRNA expression is significantly reduced in the
            anterior horn in sporadic amyotrophic lateral sclerosis patients.
REFERENCE   2  (bases 1 to 2388)
  AUTHORS   Hartill,V.L., van de Hoek,G., Patel,M.P., Little,R., Watson,C.M.,
            Berry,I.R., Shoemark,A., Abdelmottaleb,D., Parkes,E., Bacchelli,C.,
            Szymanska,K., Knoers,N.V., Scambler,P.J., Ueffing,M., Boldt,K.,
            Yates,R., Winyard,P.J., Adler,B., Moya,E., Hattingh,L., Shenoy,A.,
            Hogg,C., Sheridan,E., Roepman,R., Norris,D., Mitchison,H.M.,
            Giles,R.H. and Johnson,C.A.
  TITLE     DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and
            ciliary intraflagellar transport
  JOURNAL   Hum Mol Genet 27 (3), 529-545 (2018)
   PUBMED   29228333
  REMARK    GeneRIF: DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1
            and ciliary intraflagellar transport
REFERENCE   3  (bases 1 to 2388)
  AUTHORS   Litchfield,K., Levy,M., Dudakia,D., Proszek,P., Shipley,C.,
            Basten,S., Rapley,E., Bishop,D.T., Reid,A., Huddart,R.,
            Broderick,P., Castro,D.G., O'Connor,S., Giles,R.H., Houlston,R.S.
            and Turnbull,C.
  TITLE     Rare disruptive mutations in ciliary function genes contribute to
            testicular cancer susceptibility
  JOURNAL   Nat Commun 7, 13840 (2016)
   PUBMED   27996046
  REMARK    GeneRIF: The most significantly mutated cilia-microtubule gene in
            testicular germ cell tumors is DNAAF1 with biallelic inactivation
            and loss of DNAAF1 expression shown in tumors from carriers.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2388)
  AUTHORS   Miao,C., Jiang,Q., Li,H., Zhang,Q., Bai,B., Bao,Y. and Zhang,T.
  TITLE     Mutations in the Motile Cilia Gene DNAAF1 Are Associated with
            Neural Tube Defects in Humans
  JOURNAL   G3 (Bethesda) 6 (10), 3307-3316 (2016)
   PUBMED   27543293
  REMARK    GeneRIF: our findings here demonstrate that mutations in the motile
            cilia gene DNAAF1 could contribute to the pathogenesis of NTDs.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2388)
  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   6  (bases 1 to 2388)
  AUTHORS   Duquesnoy,P., Escudier,E., Vincensini,L., Freshour,J.,
            Bridoux,A.M., Coste,A., Deschildre,A., de Blic,J., Legendre,M.,
            Montantin,G., Tenreiro,H., Vojtek,A.M., Loussert,C., Clement,A.,
            Escalier,D., Bastin,P., Mitchell,D.R. and Amselem,S.
  TITLE     Loss-of-function mutations in the human ortholog of Chlamydomonas
            reinhardtii ODA7 disrupt dynein arm assembly and cause primary
            ciliary dyskinesia
  JOURNAL   Am J Hum Genet 85 (6), 890-896 (2009)
   PUBMED   19944405
  REMARK    GeneRIF: LRRC50, a member of the leucine-rich-repeat superfamily,
            has a key role in cytoplasmic preassembly of dynein arms
REFERENCE   7  (bases 1 to 2388)
  AUTHORS   Loges,N.T., Olbrich,H., Becker-Heck,A., Haffner,K., Heer,A.,
            Reinhard,C., Schmidts,M., Kispert,A., Zariwala,M.A., Leigh,M.W.,
            Knowles,M.R., Zentgraf,H., Seithe,H., Nurnberg,G., Nurnberg,P.,
            Reinhardt,R. and Omran,H.
  TITLE     Deletions and point mutations of LRRC50 cause primary ciliary
            dyskinesia due to dynein arm defects
  JOURNAL   Am J Hum Genet 85 (6), 883-889 (2009)
   PUBMED   19944400
  REMARK    GeneRIF: LRRC50 plays a role in assembly of distinct dynein-arm
            complexes
REFERENCE   8  (bases 1 to 2388)
  AUTHORS   van Rooijen,E., Giles,R.H., Voest,E.E., van Rooijen,C.,
            Schulte-Merker,S. and van Eeden,F.J.
  TITLE     LRRC50, a conserved ciliary protein implicated in polycystic kidney
            disease
  JOURNAL   J Am Soc Nephrol 19 (6), 1128-1138 (2008)
   PUBMED   18385425
  REMARK    GeneRIF: It is proposed that LRRC50 to be a novel candidate gene
            for human cystic kidney disease, involved in regulation of
            microtubule-based cilia and actin-based brush border microvilli
REFERENCE   9  (bases 1 to 2388)
  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 DA349893.1, BC024009.2,
            AL833327.1, AK295990.1, N47170.1, HY223243.1, AA994895.1 and
            HY196988.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_178452.5.
            
            Summary: The protein encoded by this gene is cilium-specific and is
            required for the stability of the ciliary architecture. It is
            involved in the regulation of microtubule-based cilia and
            actin-based brush border microvilli. Mutations in this gene are
            associated with primary ciliary dyskinesia-13. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005423.1, SRR1803611.154944.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378553.10/ ENSP00000367815.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DA349893.1         49-62
            15-1310             BC024009.2         6-1301
            1311-1661           AL833327.1         1330-1680
            1662-1926           AK295990.1         1008-1272
            1927-1975           N47170.1           202-250
            1976-2198           HY223243.1         190-412             c
            2199-2346           BC024009.2         2190-2337
            2347-2355           AA994895.1         36-44               c
            2356-2388           HY196988.1         33-65               c
FEATURES             Location/Qualifiers
     source          1..2388
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
     gene            1..2388
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /note="dynein axonemal assembly factor 1"
                     /db_xref="GeneID:123872"
                     /db_xref="HGNC:HGNC:30539"
                     /db_xref="MIM:613190"
     exon            1..257
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..2311
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /note="isoform 1 is encoded by transcript variant 1; outer
                     row dynein assembly 7 homolog; leucine-rich
                     repeat-containing protein 50; dynein assembly factor 1,
                     axonemal; testicular tissue protein Li 110"
                     /codon_start=1
                     /product="dynein axonemal assembly factor 1 isoform 1"
                     /protein_id="NP_848547.4"
                     /db_xref="CCDS:CCDS10943.2"
                     /db_xref="GeneID:123872"
                     /db_xref="HGNC:HGNC:30539"
                     /db_xref="MIM:613190"
                     /translation="MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEIN
                     DPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPREDREDRGPRMTKSSLQKLCKQHKL
                     YITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM
                     NLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQE
                     CLRLCVLDLSHNKLSDPEILSILESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLT
                     YLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDSIEALAMIKQRAEER
                     KRQRESQERGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCPE
                     KPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPP
                     PPVEVKGEDGDQEPEGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAR
                     EEPTPQAVATEGVFVTELDGTRTEDLETIRLETKETFCIDDLPDLEDDDETGKSLEDQ
                     NMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDI
                     FKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDF
                     LAASSPVPTESAATPPETCVGVAQPSQALPTWDLTAFPAPKAS"
     exon            258..393
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     exon            394..485
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     exon            486..707
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     exon            708..874
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     exon            875..996
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1163
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1661
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     exon            1662..1777
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..1831
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     exon            1832..2198
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     exon            2199..2388
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2347..2352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /note="hexamer: CATAAA"
     polyA_site      2388
                     /gene="DNAAF1"
                     /gene_synonym="CILD13; DAU1; LRRC50; ODA7; swt"
                     /note="major polyA site"
ORIGIN      
        1 gtaaagacta gggcgccagc ggctggcgaa gaaggaaaga gggtactctc tggctgggct
       61 ggggccgtag cgacgtccgc cgcgaacctg ggccccccaa agctgcgggg cgttcggtgt
      121 cgccgaagta aacatgcacc ctgagccctc ggagcctgcg acaggtggtg cagcagagct
      181 ggattgcgcg caggagcccg gcgtggagga gtctgcgggt gaccacggga gcgcaggccg
      241 agggggctgc aaggaagaaa ttaatgatcc taaggaaata tgtgtgggtt cttctgacac
      301 atcctaccac agccagcaga aacagagtgg tgataatggg tcaggtggtc acttcgcaca
      361 cccaagagaa gacagggaag atcggggccc cagaatgact aaaagttccc tgcaaaaact
      421 ctgcaagcag cacaagcttt atattacccc agcattgaat gatacgctgt atttacactt
      481 taaaggtttt gatcgcattg agaacctgga agagtacaca gggctgcgct gtctctggct
      541 gcagagcaat ggaatacaga aaatcgaaaa cctggaggcc caaactgagt tgcgttgcct
      601 cttcttgcaa atgaacttgc tccgtaaaat tgagaacctg gaacctctgc agaaactgga
      661 tgctcttaac ctcagcaaca attacatcaa gaccattgaa aacctctcct gcctcccagt
      721 cctgaacaca ttgcagatgg cccacaatca cctggagacc gtggaggaca ttcagcatct
      781 acaagagtgt ttgaggcttt gtgtccttga cctttcgcac aacaagctga gtgacccgga
      841 gatcctgagc attctggaaa gcatgcccga tttgcgtgta ctgaatttga tgggaaaccc
      901 ggttatcaga cagattccta attacagaag gacagtcact gtacgactaa agcacttaac
      961 atacctggat gatagaccag tgtttccaaa ggacagagct tgtgcggagg cctgggctag
     1021 gggagggtac gcagctgaaa aggaggagag acagcagtgg gagagcaggg agcggaagaa
     1081 gatcacagac agcattgaag ccttggccat gatcaagcag cgggcagagg agaggaaaag
     1141 acagagagag agtcaagaga gaggggagat gacatcttca gatgatggtg agaatgtgcc
     1201 cgccagtgcg gaaggcaagg aggagcctcc cggggacaga gaaacaaggc agaagatgga
     1261 gctatttgtt aaggaaagct ttgaggccaa ggacgagctc tgcccggaaa agccaagtgg
     1321 agaggagccg cctgtggagg ctaaaagaga ggatggaggt ccagagccag aggggaccct
     1381 cccagctgag accctgctac tgtcgtcacc tgtggaggtt aaaggagagg acggagatgg
     1441 agagccagag gggaccctcc cagctgaggc cccaccaccc ccgccacctg tggaggttaa
     1501 aggagaggat ggagatcaag agccagaggg gaccctccca gctgagaccc tgctactgtc
     1561 accgcctgtg aaggttaaag gagaggatgg agatcgagag ccagagggga ccctcccagc
     1621 tgaggcccca ccaccaccgc ccctgggagc tgccagggaa gaaccgactc cccaggctgt
     1681 ggccactgag ggtgtattcg ttacagaact tgatggaacg agaacggaag atttagaaac
     1741 cattagactg gagacaaagg agacattctg cattgatgac ctacctgact tggaagatga
     1801 tgatgaaaca ggcaaatctc tggaagacca gaatatgtgc tttccgaaga ttgaggtcat
     1861 ctcgagcttg agtgatgaca gtgaccctga actggactac acgtcactcc ctgtgctgga
     1921 aaacctcccc acagacactc tgtcaaatat atttgcagtc tctaaagaca cctcaaaggc
     1981 ggctcgggtg cccttcacag acatctttaa aaaagaagct aagagggact tggaaatccg
     2041 aaaacaagac accaagtccc caagacccct gatccaggag ctcagcgacg aggacccctc
     2101 tggccagcta ctgatgcccc ccacctgcca aagagatgct gcaccactca cttccagtgg
     2161 agacagggac agcgacttcc ttgcagcctc ttctccggtg ccgactgaga gcgccgccac
     2221 acccccagag acgtgtgtcg gagttgccca gcccagccaa gctctgccca cgtgggacct
     2281 cactgcattc ccagcaccga aagcatcata gttttcccca gttatatgta gcataaatgg
     2341 tttaatcata aatgtctccc ttaggcatga taaacatttt aacaccca
//
