LOCUS       NM_001256715            2118 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens dynein axonemal assembly factor 3 (DNAAF3), transcript
            variant 3, mRNA.
ACCESSION   NM_001256715
VERSION     NM_001256715.2
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 2118)
  AUTHORS   Guo,Z., Chen,W., Huang,J., Wang,L. and Qian,L.
  TITLE     Clinical and genetic analysis of patients with primary ciliary
            dyskinesia caused by novel DNAAF3 mutations
  JOURNAL   J Hum Genet 64 (8), 711-719 (2019)
   PUBMED   31186518
  REMARK    GeneRIF: as the first report on DNAAF3 mutations in PCD patients in
            China, our study not only expands the spectrum of DNAAF3 mutations
            but also further complements the detailed phenotype characteristics
            of these patients.
REFERENCE   2  (bases 1 to 2118)
  AUTHORS   Blue,E., Louie,T.L., Chong,J.X., Hebbring,S.J., Barnes,K.C.,
            Rafaels,N.M., Knowles,M.R., Gibson,R.L., Bamshad,M.J. and
            Emond,M.J.
  CONSRTM   U.S. National Heart, Lung, and Blood Institute "Grand Opportunity"
            Exome Sequencing Project (LungGO)
  TITLE     Variation in Cilia Protein Genes and Progression of Lung Disease in
            Cystic Fibrosis
  JOURNAL   Ann Am Thorac Soc 15 (4), 440-448 (2018)
   PUBMED   29323929
  REMARK    GeneRIF: Genetic variants within DNAH6, DNAH14, and DNAAF3 are
            associated with variation in lung function among persons with
            cystic fibrosis.
REFERENCE   3  (bases 1 to 2118)
  AUTHORS   Mitchison,H.M., Schmidts,M., Loges,N.T., Freshour,J., Dritsoula,A.,
            Hirst,R.A., O'Callaghan,C., Blau,H., Al Dabbagh,M., Olbrich,H.,
            Beales,P.L., Yagi,T., Mussaffi,H., Chung,E.M., Omran,H. and
            Mitchell,D.R.
  TITLE     Mutations in axonemal dynein assembly factor DNAAF3 cause primary
            ciliary dyskinesia
  JOURNAL   Nat Genet 44 (4), 381-389,S1-S2 (2012)
   PUBMED   22387996
  REMARK    GeneRIF: study identified loss-of-function mutations in the human
            DNAAF3 gene in individuals from families with situs inversus and
            defects in the assembly of inner and outer dynein arm
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2118)
  AUTHORS   Meeks,M., Walne,A., Spiden,S., Simpson,H., Mussaffi-Georgy,H.,
            Hamam,H.D., Fehaid,E.L., Cheehab,M., Al-Dabbagh,M.,
            Polak-Charcon,S., Blau,H., O'Rawe,A., Mitchison,H.M., Gardiner,R.M.
            and Chung,E.
  TITLE     A locus for primary ciliary dyskinesia maps to chromosome 19q
  JOURNAL   J Med Genet 37 (4), 241-244 (2000)
   PUBMED   10745040
REFERENCE   5  (bases 1 to 2118)
  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 DB093464.1 and BC016843.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001256715.1.
            
            Summary: The protein encoded by this gene is required for the
            assembly of axonemal inner and outer dynein arms and plays a role
            in assembling dynein complexes for transport into cilia. Defects in
            this gene are a cause of primary ciliary dyskinesia type 2 (CILD2).
            Several transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (3) uses two alternate splice
            sites, compared to variant 1. These differences cause translation
            initiation at a downstream AUG and result in an isoform (3) with a
            shorter N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC016843.1, SRR14038192.3853875.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000524407.7/ ENSP00000432046.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-61                DB093464.1         110-170
            62-2118             BC016843.1         1-2057
FEATURES             Location/Qualifiers
     source          1..2118
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..2118
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /note="dynein axonemal assembly factor 3"
                     /db_xref="GeneID:352909"
                     /db_xref="HGNC:HGNC:30492"
                     /db_xref="MIM:614566"
     exon            1..91
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     exon            92..180
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1721
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /note="isoform 3 is encoded by transcript variant 3;
                     UPF0470 protein C19orf51"
                     /codon_start=1
                     /product="dynein axonemal assembly factor 3 isoform 3"
                     /protein_id="NP_001243644.1"
                     /db_xref="CCDS:CCDS59422.1"
                     /db_xref="GeneID:352909"
                     /db_xref="HGNC:HGNC:30492"
                     /db_xref="MIM:614566"
                     /translation="MTTPAGSGSGFGSVSWWGLSPALDLQAESPPVDPDSQADTVHSN
                     PELDVLLLGSVDGRHLLRTLSRAKFWPRRRFNFFVLENNLEAVARHMLIFSLALEEPE
                     KMGLQERSETFLEVWGNALLRPPVAAFVRAQADLLAHLVPEPDRLEEQLPWLSLRALK
                     FRERDALEAVFRFWAGGEKGPQAFPMSRLWDSRLRHYLGSRYDARRGVSDWDLRMKLH
                     DRGAQVIHPQEFRRWRDTGVAFELRDSSAYHVPNRTLASGRLLSYRGERVAARGYWGD
                     IATGPFVAFGIEADDESLLRTSNGQPVKTAGEITQHNVTELLRDVAAWGRARATGGDL
                     EEQQHAEGSPEPGTPAAPTPESFTVHFLPLNSAQTLHHKSCYNGRFQLLYVACGMVHL
                     LIPELGACVAPGGNLIVELARYLVDVRQEQLQGFNTRVRELAQAAGFAPQTGARPSET
                     FARFCKSQESALGNTVPAVEPGTPPLDILAQPLEASNPALEGLTQPLQGGTPHCEPCQ
                     LPSESPGSLSEVLAQPQGALAPPNCESDSKTGV"
     exon            181..323
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     exon            324..417
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     exon            418..575
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     exon            576..758
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     exon            759..884
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     exon            885..1007
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1143
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1258
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     exon            1259..1333
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..2118
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2097..2102
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /note="hexamer: AGTAAA"
     polyA_site      2118
                     /gene="DNAAF3"
                     /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22"
                     /note="major polyA site"
ORIGIN      
        1 gactctgggc agcggttgtg gagtgccgcg ggtccacagt gctgcactga gcagagagga
       61 aggggcgtcc cgggatattt ggaggataaa gggtgatgac cacacctgcc ggctccggca
      121 gcggcttcgg ctccgtgtcc tggtggggcc tgtccccggc gctggacctg caggctgaaa
      181 gtcctcctgt ggacccagac tcccaggccg atacagtgca cagcaacccc gagctagatg
      241 tgctgcttct gggctctgtg gatggacggc acctgctgcg gaccctgtcc cgagcgaagt
      301 tctggcctcg caggaggttc aacttctttg tgctggagaa taatctggaa gctgtggccc
      361 gacacatgct gatcttcagc ctagccctgg aggaaccgga gaagatgggg ctgcaagagc
      421 gaagcgagac cttcctggaa gtgtggggga acgcgctgct gcgcccgcca gtggccgcct
      481 tcgtgcgtgc ccaggccgac ctgctggcgc acctggtccc cgagcccgac cgcctggagg
      541 aacagctgcc ctggctcagc ctccgcgccc tcaagttccg cgagcgggat gccctggagg
      601 ccgtattccg cttctgggct ggcggcgaga aagggcccca ggcgttcccc atgagccgcc
      661 tctgggactc gcgcctgcgc cactacctgg gctcccgcta cgacgcccgg cgcggtgtca
      721 gcgactggga cctgcgcatg aagctgcatg accgcggggc tcaagtcatt cacccccagg
      781 agttccgacg ctggcgggac acaggcgtcg cctttgaact cagggactcc agcgcctatc
      841 atgtgcccaa ccggaccctg gcgtccggtc gcctcctgag ctaccgtggg gagcgcgtgg
      901 cagcgcgcgg gtactggggg gacatcgcca cggggccctt cgtggccttc ggcatcgaag
      961 cggacgacga gagcctcctg cggacgagca acggccagcc agtcaagacg gccggggaga
     1021 tcactcaaca caacgtgacg gagctgctcc gcgacgtggc cgcctggggg cgcgcgagag
     1081 ccaccggggg ggacctggag gagcagcagc acgcggaggg aagcccggag ccagggactc
     1141 cagcagcccc gaccccggaa tctttcaccg tccacttcct gccgctcaat tctgctcaga
     1201 ctctccacca caagagctgc tacaacggcc gattccagct cctctatgtg gcctgtggta
     1261 tggtccatct tctcatccct gagcttgggg cctgtgtggc acccggaggg aacttgattg
     1321 tggaattagc ccggtacctg gtggacgtgc ggcaggagca gctgcaggga ttcaacaccc
     1381 gggtcaggga gctagctcag gcagctggat ttgctccaca gaccggggcc aggccttcag
     1441 agaccttcgc acgtttctgc aagtcccagg aatcagctct gggcaacact gtcccagctg
     1501 tggaacccgg aactccgccc cttgacatcc tggcccagcc tcttgaagcc agcaacccag
     1561 cccttgaggg cctgacccag cctctgcagg gtgggacccc acactgtgag ccctgccagc
     1621 tgccctctga gtctccaggt tcactctcag aggttctggc tcagcctcag ggggccttgg
     1681 ctccgcccaa ctgtgagtca gactccaaaa ctggagtctg acccaacccc tagacacccc
     1741 ttatctccaa cttccaaagt caggttgtag gatgagaacc cgctgatacc attctaagtc
     1801 cgctgctaga gtcctcaatt ttattctaat cattcccact cagtacccgc cacccccacc
     1861 ccgggagtgt tggtagactt tcaaattcca tttctgagat tctatggtct attcctagaa
     1921 ttctagattg ttctctcaga attccaaatt ccacttctga ggctctaagc ccagcctagg
     1981 atctgacact gagtctcagg cccttgactt tggccccctt gttcccaggc accctgtggc
     2041 tgactagggg ctggggtgtc tcctcaccag ggcctggtca gcacccagat ggttcaagta
     2101 aagcaagttg tgtccacc
//
