LOCUS       NM_027269               3413 bp    mRNA    linear   ROD 07-FEB-2025
DEFINITION  Mus musculus dynein, axonemal assembly factor 2 (Dnaaf2), mRNA.
ACCESSION   NM_027269
VERSION     NM_027269.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3413)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 3413)
  AUTHORS   Cheong,A., Degani,R., Tremblay,K.D. and Mager,J.
  TITLE     A null allele of Dnaaf2 displays embryonic lethality and mimics
            human ciliary dyskinesia
  JOURNAL   Hum Mol Genet 28 (16), 2775-2784 (2019)
   PUBMED   31107948
  REMARK    GeneRIF: These findings support studies indicating that hypomorphic
            mutations of human DNAAF2 can result in ciliary dyskinesia and
            identify Dnaaf2 as an essential component of cilia function in
            vivo.
REFERENCE   3  (bases 1 to 3413)
  AUTHORS   Dickinson,M.E., Flenniken,A.M., Ji,X., Teboul,L., Wong,M.D.,
            White,J.K., Meehan,T.F., Weninger,W.J., Westerberg,H., Adissu,H.,
            Baker,C.N., Bower,L., Brown,J.M., Caddle,L.B., Chiani,F., Clary,D.,
            Cleak,J., Daly,M.J., Denegre,J.M., Doe,B., Dolan,M.E., Edie,S.M.,
            Fuchs,H., Gailus-Durner,V., Galli,A., Gambadoro,A., Gallegos,J.,
            Guo,S., Horner,N.R., Hsu,C.W., Johnson,S.J., Kalaga,S., Keith,L.C.,
            Lanoue,L., Lawson,T.N., Lek,M., Mark,M., Marschall,S., Mason,J.,
            McElwee,M.L., Newbigging,S., Nutter,L.M., Peterson,K.A.,
            Ramirez-Solis,R., Rowland,D.J., Ryder,E., Samocha,K.E.,
            Seavitt,J.R., Selloum,M., Szoke-Kovacs,Z., Tamura,M., Trainor,A.G.,
            Tudose,I., Wakana,S., Warren,J., Wendling,O., West,D.B., Wong,L.,
            Yoshiki,A., MacArthur,D.G., Tocchini-Valentini,G.P., Gao,X.,
            Flicek,P., Bradley,A., Skarnes,W.C., Justice,M.J., Parkinson,H.E.,
            Moore,M., Wells,S., Braun,R.E., Svenson,K.L., de Angelis,M.H.,
            Herault,Y., Mohun,T., Mallon,A.M., Henkelman,R.M., Brown,S.D.,
            Adams,D.J., Lloyd,K.C., McKerlie,C., Beaudet,A.L., Bucan,M. and
            Murray,S.A.
  CONSRTM   International Mouse Phenotyping Consortium; Jackson Laboratory;
            Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris
            (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for
            Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource
            Center
  TITLE     High-throughput discovery of novel developmental phenotypes
  JOURNAL   Nature 537 (7621), 508-514 (2016)
   PUBMED   27626380
  REMARK    Erratum:[Nature. 2017 Nov 16;551(7680):398. doi:
            10.1038/nature24643.. PMID: 29144450]
REFERENCE   4  (bases 1 to 3413)
  AUTHORS   Dong,F., Shinohara,K., Botilde,Y., Nabeshima,R., Asai,Y.,
            Fukumoto,A., Hasegawa,T., Matsuo,M., Takeda,H., Shiratori,H.,
            Nakamura,T. and Hamada,H.
  TITLE     Pih1d3 is required for cytoplasmic preassembly of axonemal dynein
            in mouse sperm
  JOURNAL   J Cell Biol 204 (2), 203-213 (2014)
   PUBMED   24421334
REFERENCE   5  (bases 1 to 3413)
  AUTHORS   Koscielny,G., Yaikhom,G., Iyer,V., Meehan,T.F., Morgan,H.,
            Atienza-Herrero,J., Blake,A., Chen,C.K., Easty,R., Di Fenza,A.,
            Fiegel,T., Grifiths,M., Horne,A., Karp,N.A., Kurbatova,N.,
            Mason,J.C., Matthews,P., Oakley,D.J., Qazi,A., Regnart,J.,
            Retha,A., Santos,L.A., Sneddon,D.J., Warren,J., Westerberg,H.,
            Wilson,R.J., Melvin,D.G., Smedley,D., Brown,S.D., Flicek,P.,
            Skarnes,W.C., Mallon,A.M. and Parkinson,H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   6  (bases 1 to 3413)
  AUTHORS   Matsuo,M., Shimada,A., Koshida,S., Saga,Y. and Takeda,H.
  TITLE     The establishment of rotational polarity in the airway and
            ependymal cilia: analysis with a novel cilium motility mutant mouse
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 304 (11), L736-L745 (2013)
   PUBMED   23525783
  REMARK    GeneRIF: Observation of cilia orientation based on basal foot
            directions revealed that ciliary motility was not required in the
            alignment of airway cilia, whereas a strong requirement was
            observed in brain ependymal cells.
REFERENCE   7  (bases 1 to 3413)
  AUTHORS   Yang,L., Huang,P., Li,F., Zhao,L., Zhang,Y., Li,S., Gan,Z., Lin,A.,
            Li,W. and Liu,Y.
  TITLE     c-Jun amino-terminal kinase-1 mediates glucose-responsive
            upregulation of the RNA editing enzyme ADAR2 in pancreatic
            beta-cells
  JOURNAL   PLoS One 7 (11), e48611 (2012)
   PUBMED   23139803
REFERENCE   8  (bases 1 to 3413)
  AUTHORS   Omran,H., Kobayashi,D., Olbrich,H., Tsukahara,T., Loges,N.T.,
            Hagiwara,H., Zhang,Q., Leblond,G., O'Toole,E., Hara,C., Mizuno,H.,
            Kawano,H., Fliegauf,M., Yagi,T., Koshida,S., Miyawaki,A.,
            Zentgraf,H., Seithe,H., Reinhardt,R., Watanabe,Y., Kamiya,R.,
            Mitchell,D.R. and Takeda,H.
  TITLE     Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal
            dyneins
  JOURNAL   Nature 456 (7222), 611-616 (2008)
   PUBMED   19052621
  REMARK    GeneRIF: Ktu/PF13 is one of the long-sought proteins involved in
            pre-assembly of dynein arm complexes in the cytoplasm before
            intraflagellar transport loads them for the ciliary compartment
REFERENCE   9  (bases 1 to 3413)
  AUTHORS   Kunarso,G., Wong,K.Y., Stanton,L.W. and Lipovich,L.
  TITLE     Detailed characterization of the mouse embryonic stem cell
            transcriptome reveals novel genes and intergenic splicing
            associated with pluripotency
  JOURNAL   BMC Genomics 9, 155 (2008)
   PUBMED   18400104
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 3413)
  AUTHORS   Challen,G.A., Martinez,G., Davis,M.J., Taylor,D.F., Crowe,M.,
            Teasdale,R.D., Grimmond,S.M. and Little,M.H.
  TITLE     Identifying the molecular phenotype of renal progenitor cells
  JOURNAL   J Am Soc Nephrol 15 (9), 2344-2357 (2004)
   PUBMED   15339983
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC055807.1 and BC058344.1.
            
            [WARNING] On Feb 11, 2025 this sequence was replaced by
            NM_027269.5.
            
            On Sep 17, 2015 this sequence version replaced NM_027269.3.
            
            Summary: This gene encodes a highly conserved protein involved in
            the preassembly of dynein arm complexes which power cilia. These
            complexes are found in some cilia and are assembled in the
            cytoplasm prior to transport for cilia formation. Mutations in the
            human gene have been associated with primary ciliary dyskinesia.
            [provided by RefSeq, Sep 2015].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC055807.1, AB455811.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164134, SAMN01164138
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-2639              BC055807.1         1-2639
            2640-3413           BC058344.1         1225-1998
FEATURES             Location/Qualifiers
     source          1..3413
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 28.73 cM"
     gene            1..3413
                     /gene="Dnaaf2"
                     /gene_synonym="kintoun; Ktu; mknt; TU54"
                     /note="dynein, axonemal assembly factor 2"
                     /db_xref="GeneID:109065"
                     /db_xref="MGI:MGI:1923566"
     exon            1..1938
                     /gene="Dnaaf2"
                     /gene_synonym="kintoun; Ktu; mknt; TU54"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..2589
                     /gene="Dnaaf2"
                     /gene_synonym="kintoun; Ktu; mknt; TU54"
                     /note="dynein assembly factor 2, axonemal"
                     /codon_start=1
                     /product="protein kintoun"
                     /protein_id="NP_081545.3"
                     /db_xref="CCDS:CCDS25948.1"
                     /db_xref="GeneID:109065"
                     /db_xref="MGI:MGI:1923566"
                     /translation="MAKAAASSALEDLDLSREEVQRFTSAFQDPEFRRMFSEYAAEIT
                     DPENRRRYEEEITALERERGVDVRFVHPEPGHVLRTSLDGEHRCYVNVCSNSLVGVPS
                     SRPGPGRGGTAAGSHWSLPYSLAPGRQYAGRNGARYTVYDVVFHPEALALARSHERFR
                     EMLDATALEAVEQQFGVRLDRRNAKTLKIKYKGMPEAAVLRTPLPGGVPAQPEGEPPG
                     LFPDPPYPYRYPAAAAANTARSPASPAPEAVQRPEPTEPRCSVVQRHHVDLQDYRCSR
                     DAAPSTVPHELVVTIELPLLRSVERAELEVKGKLLCLDSRNPDYRLRLSLPYPVDDGR
                     GKAQYNKARRQLVVTLPVALADARQEPPAATPEEPAEETGTDDVARTSAGDFAAAREE
                     SADGTGADHGEKSGVGAPDPGAAHAEGELVPEPEQDFGGDSVAPLDLGKGTSPGDRSL
                     PYSAFPGGDTESLCGDPGVQTNEEQERTRHDTAGSAMGDPGTESIAPVCPPLQCNQDE
                     DSLTLLIQVPGILPQTLHGHLSPVGYELCFSTQDSGYSCTLQFAPENKLSTREPETSV
                     SLNNAVIVLAKSPESHGLWREWYCGLNKESLEERLFINEENVNGFLEEVLCSPLKQAR
                     SLAPPLIEVLQATDEQVQIHAELQECSDPAGLQGKGKGVREGCPLSEAEAADQSATSP
                     AASDSAAAVEALKINTHGSAVDLQHGCPEVPHVLSGKPLQPEAKMDPEFIRESSTTYS
                     TEEKENIREPVISKGEKINGDHPSSLLNKTVVQNIPDFDTIKETNMQDGSVQIIRDHT
                     THCAFSFQNPLLYDLD"
     exon            1939..2082
                     /gene="Dnaaf2"
                     /gene_synonym="kintoun; Ktu; mknt; TU54"
                     /inference="alignment:Splign:2.1.0"
     exon            2083..3390
                     /gene="Dnaaf2"
                     /gene_synonym="kintoun; Ktu; mknt; TU54"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2618..2623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dnaaf2"
                     /gene_synonym="kintoun; Ktu; mknt; TU54"
                     /note="hexamer: AGTAAA"
     polyA_site      2639
                     /gene="Dnaaf2"
                     /gene_synonym="kintoun; Ktu; mknt; TU54"
                     /note="major polyA site"
     regulatory      3370..3375
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dnaaf2"
                     /gene_synonym="kintoun; Ktu; mknt; TU54"
                     /note="hexamer: AATAAA"
     polyA_site      3377
                     /gene="Dnaaf2"
                     /gene_synonym="kintoun; Ktu; mknt; TU54"
ORIGIN      
        1 gcacgcgctg cccggccttg acaatccagc cgttaccttc ttggactggt cagttctcca
       61 tgagccagac tctgaagcgc atcctagaca ctcaattcac cctgatcctt cactgggtct
      121 gggcattggg ccgtgtgggt caccatggcc aaggcggcgg cctcctcagc gctggaggac
      181 ttggatctga gcagagagga ggtgcagcgg ttcacctccg cctttcagga cccagagttc
      241 cgccgaatgt tctccgagta cgccgcggag atcacggacc ccgagaaccg gaggcgctac
      301 gaggaggaga tcacagccct ggagcgggag cgtggggtgg atgtgcggtt cgtgcaccct
      361 gagccgggcc atgtgctgcg taccagcctg gacggggagc accgctgcta cgtgaacgtg
      421 tgcagcaact cactggtagg cgtacctagc agccggcccg gcccggggcg cggcggcacg
      481 gcagctggca gccactggtc cctgccctat agcctggctc ccggccgcca gtatgccggc
      541 cgcaacggcg cccgctacac cgtctacgac gtggtcttcc accccgaagc gctggcgctg
      601 gcccggagcc acgagcgctt ccgcgaaatg ctggacgcca cggccctgga ggcggtggag
      661 cagcagttcg gcgtcaggct ggaccgcagg aacgccaaga ccctgaagat caagtacaag
      721 gggatgcccg aggccgcagt gctccgcacg cccctacccg ggggcgtccc ggcccagccc
      781 gagggggagc caccagggct tttcccggac ccaccatatc cataccgcta ccccgcggca
      841 gcggcggcga acactgcccg ctcgcccgcg tcccccgctc ccgaggccgt gcagcgccca
      901 gagcccacgg agccgcgctg ctccgtggtg cagcgccacc acgtagacct ccaggattac
      961 cgctgctcgc gcgacgcggc cccgagcacc gtgccgcacg agctggtggt caccatcgag
     1021 ctgccgctgc tgcgctcggt cgagcgggcg gagctggagg tgaaggggaa gctgctgtgc
     1081 ctggactcga gaaaccccga ctaccggctg cggctctcgc tgccgtaccc ggtggacgac
     1141 ggccgcggca aggcacagta caacaaggcg cggcggcagc tggtggtcac gctgccggtg
     1201 gcgctggccg acgcgcgcca ggaacccccg gccgcgacac cggaagagcc cgcggaggag
     1261 accggaactg acgacgtagc ccgcacttcc gcgggcgatt ttgcagcggc gcgggaagag
     1321 tctgcagatg gaaccggagc tgaccacggg gagaagagcg gtgtgggagc cccagacccc
     1381 ggggctgcac acgctgaagg ggagctcgtt cccgaaccgg agcaggactt cggaggggac
     1441 tcggtggcac ctctagacct cgggaaaggg acttctcctg gggaccgaag cctcccttac
     1501 tctgctttcc cgggcggcga caccgaatcc ctgtgcggag accccggtgt ccagacgaat
     1561 gaggagcagg agaggacccg ccacgacacc gcgggctcag ccatgggtga ccccggaacc
     1621 gagagcatcg cacccgtgtg ccctccttta cagtgtaatc aggacgaaga ctccttgact
     1681 ttgctcatcc aagtgcctgg gattctgcca caaactcttc acggacatct aagccccgtc
     1741 ggttacgaat tgtgcttctc tacacaagac tcgggttatt cctgcacttt gcagtttgct
     1801 ccagagaata agttgagtac cagagaaccc gagactagcg tttctttaaa taatgcagtc
     1861 atagtactgg caaaatctcc agagagccac ggactttggc gagagtggta ttgtggcttg
     1921 aacaaggagt ctttggagga aagattgttt atcaatgaag aaaatgttaa tgggtttctt
     1981 gaagaggtcc tttgctcccc attgaagcag gcaaggtctc tggccccacc gctgattgag
     2041 gttcttcagg ccactgatga gcaggttcag atccatgcag agttgcagga atgtagtgat
     2101 cctgctgggc ttcaaggaaa gggaaaagga gtcagagaag gctgtcctct gagtgaagca
     2161 gaagccgctg accagtccgc cacctctcca gctgcttctg attcagctgc agcagtcgaa
     2221 gcactaaaaa taaacacgca tggttcagct gtggacctgc aacacggctg tcctgaggtt
     2281 cctcacgtac tgtctggaaa accgctgcaa ccagaggcaa aaatggatcc tgagtttata
     2341 agagaaagta gtactaccta ctcgactgag gaaaaggaaa atataagaga gccagtaata
     2401 agcaaggggg aaaaaataaa tggagatcac ccatcttcat tactgaacaa aactgtggtt
     2461 caaaacatac ctgactttga cactataaaa gagacgaata tgcaggatgg tagtgtgcag
     2521 attattagag accacacgac tcattgtgca ttcagttttc agaatccctt gctatatgat
     2581 ttagactgat gtatatgatt ttgaaattta aaaattgagt aaaaaaaatt gggacctaag
     2641 acaggttgtt tgtgttttta aattgatgta aaaccaaaca tttacagtta attttggtga
     2701 ggaagctggc agcaatccca atgcctagct agcactggga acctgatggt cagtcagttt
     2761 aggtcaggct cagctacaaa attaggggcc agcctaggct acgtgagacc atgccttttt
     2821 aaaaacaaaa acccctggag atacttttct tgaatagttt ccttaataag agaaaatatt
     2881 tatgattttt ttcaaagtat tctttttttg tttttggttt tttttgagac agggtttttc
     2941 tgtgtagcct tggctgtcct gaacctcact ttgtagacca ggctggtctc gaactcagaa
     3001 atctgcctgc ctctgcctcc ccagtgctga gattaaaggc caaagtatct taaaaaacat
     3061 ttatttgggg tcaaggagat gtggagatgt gggtcatcac atgcatatgg aaggcagaag
     3121 actgtgtctc tgggattaag cccaggtcat cggccttggt gggaagccat ctgtctggtc
     3181 ccgtagtttg tgagacctgg gttggttctg tattccctat gtagcctggc ctaccctcaa
     3241 agtcttcctg cctgagtttc tgaggctggg actaaggcat gcatcagcat gctgggttaa
     3301 agatacttag ttggactaca agtagatcct gggtttgtgt tcaatttgat ttttatatta
     3361 aagtttcaaa ataaaaattc attgagttaa aaaaaaaaaa aaaaaaaaaa aaa
//
