LOCUS       NM_018139               2977 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens dynein axonemal assembly factor 2 (DNAAF2), transcript
            variant 1, mRNA.
ACCESSION   NM_018139
VERSION     NM_018139.3
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 2977)
  AUTHORS   Dong,L., Zhang,L., Li,X., Mei,S., Shen,Y., Fu,L., Zhao,S., Tang,X.
            and Tang,Y.
  TITLE     Clinical and genetic analysis of two patients with primary ciliary
            dyskinesia caused by a novel variant of DNAAF2
  JOURNAL   BMC Pediatr 23 (1), 616 (2023)
   PUBMED   38053031
  REMARK    GeneRIF: Clinical and genetic analysis of two patients with primary
            ciliary dyskinesia caused by a novel variant of DNAAF2.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2977)
  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   3  (bases 1 to 2977)
  AUTHORS   Sun,M., Zhang,Y., JiyunYang, Wang,Y., Tan,H., Wang,H., Lei,T.,
            Li,X., Zhang,X., Xiong,W., Dou,K. and Ma,Y.
  TITLE     Novel compound heterozygous DNAAF2 mutations cause primary ciliary
            dyskinesia in a Han Chinese family
  JOURNAL   J Assist Reprod Genet 37 (9), 2159-2170 (2020)
   PUBMED   32638265
  REMARK    GeneRIF: Novel compound heterozygous DNAAF2 mutations cause primary
            ciliary dyskinesia in a Han Chinese family.
REFERENCE   4  (bases 1 to 2977)
  AUTHORS   Maurizy,C., Quinternet,M., Abel,Y., Verheggen,C., Santo,P.E.,
            Bourguet,M., C F Paiva,A., Bragantini,B., Chagot,M.E., Robert,M.C.,
            Abeza,C., Fabre,P., Fort,P., Vandermoere,F., M F Sousa,P.,
            Rain,J.C., Charpentier,B., Cianferani,S., Bandeiras,T.M.,
            Pradet-Balade,B., Manival,X. and Bertrand,E.
  TITLE     The RPAP3-Cterminal domain identifies R2TP-like quaternary
            chaperones
  JOURNAL   Nat Commun 9 (1), 2093 (2018)
   PUBMED   29844425
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2977)
  AUTHORS   Fassad,M.R., Shoemark,A., le Borgne,P., Koll,F., Patel,M.,
            Dixon,M., Hayward,J., Richardson,C., Frost,E., Jenkins,L.,
            Cullup,T., Chung,E.M.K., Lemullois,M., Aubusson-Fleury,A., Hogg,C.,
            Mitchell,D.R., Tassin,A.M. and Mitchison,H.M.
  TITLE     C11orf70 Mutations Disrupting the Intraflagellar
            Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause
            Primary Ciliary Dyskinesia
  JOURNAL   Am J Hum Genet 102 (5), 956-972 (2018)
   PUBMED   29727692
REFERENCE   6  (bases 1 to 2977)
  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   7  (bases 1 to 2977)
  AUTHORS   Orvedahl,A., Sumpter,R. Jr., Xiao,G., Ng,A., Zou,Z., Tang,Y.,
            Narimatsu,M., Gilpin,C., Sun,Q., Roth,M., Forst,C.V., Wrana,J.L.,
            Zhang,Y.E., Luby-Phelps,K., Xavier,R.J., Xie,Y. and Levine,B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   8  (bases 1 to 2977)
  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 2977)
  AUTHORS   Heilig,R., Eckenberg,R., Petit,J.L., Fonknechten,N., Da Silva,C.,
            Cattolico,L., Levy,M., Barbe,V., de Berardinis,V., Ureta-Vidal,A.,
            Pelletier,E., Vico,V., Anthouard,V., Rowen,L., Madan,A., Qin,S.,
            Sun,H., Du,H., Pepin,K., Artiguenave,F., Robert,C., Cruaud,C.,
            Bruls,T., Jaillon,O., Friedlander,L., Samson,G., Brottier,P.,
            Cure,S., Segurens,B., Aniere,F., Samain,S., Crespeau,H., Abbasi,N.,
            Aiach,N., Boscus,D., Dickhoff,R., Dors,M., Dubois,I., Friedman,C.,
            Gouyvenoux,M., James,R., Madan,A., Mairey-Estrada,B., Mangenot,S.,
            Martins,N., Menard,M., Oztas,S., Ratcliffe,A., Shaffer,T.,
            Trask,B., Vacherie,B., Bellemere,C., Belser,C., Besnard-Gonnet,M.,
            Bartol-Mavel,D., Boutard,M., Briez-Silla,S., Combette,S.,
            Dufosse-Laurent,V., Ferron,C., Lechaplais,C., Louesse,C.,
            Muselet,D., Magdelenat,G., Pateau,E., Petit,E.,
            Sirvain-Trukniewicz,P., Trybou,A., Vega-Czarny,N., Bataille,E.,
            Bluet,E., Bordelais,I., Dubois,M., Dumont,C., Guerin,T.,
            Haffray,S., Hammadi,R., Muanga,J., Pellouin,V., Robert,D.,
            Wunderle,E., Gauguet,G., Roy,A., Sainte-Marthe,L., Verdier,J.,
            Verdier-Discala,C., Hillier,L., Fulton,L., McPherson,J.,
            Matsuda,F., Wilson,R., Scarpelli,C., Gyapay,G., Wincker,P.,
            Saurin,W., Quetier,F., Waterston,R., Hood,L. and Weissenbach,J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
  REMARK    Erratum:[Nature. 2023 Aug;620(7973):E17. doi:
            10.1038/s41586-023-06403-y.. PMID: 37491470]
REFERENCE   10 (bases 1 to 2977)
  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 AL139099.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 13, 2020 this sequence version replaced NM_018139.2.
            
            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 this
            gene have been associated with primary ciliary dyskinesia. Multiple
            transcript variants encoding different isoforms have been found for
            this gene.[provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: FJ158843.1, SRR14038193.2432386.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153427, SAMEA2467148
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298292.13/ ENSP00000298292.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1958              AL139099.3         27389-29346
            1959-2102           AL139099.3         34478-34621
            2103-2977           AL139099.3         36585-37459
FEATURES             Location/Qualifiers
     source          1..2977
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.3"
     gene            1..2977
                     /gene="DNAAF2"
                     /gene_synonym="C14orf104; CILD10; KTU; PF13"
                     /note="dynein axonemal assembly factor 2"
                     /db_xref="GeneID:55172"
                     /db_xref="HGNC:HGNC:20188"
                     /db_xref="MIM:612517"
     exon            1..1958
                     /gene="DNAAF2"
                     /gene_synonym="C14orf104; CILD10; KTU; PF13"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..2609
                     /gene="DNAAF2"
                     /gene_synonym="C14orf104; CILD10; KTU; PF13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     kintoun; protein kintoun; dynein assembly factor 2,
                     axonemal"
                     /codon_start=1
                     /product="protein kintoun isoform 1"
                     /protein_id="NP_060609.2"
                     /db_xref="CCDS:CCDS9691.2"
                     /db_xref="GeneID:55172"
                     /db_xref="HGNC:HGNC:20188"
                     /db_xref="MIM:612517"
                     /translation="MAKAAASSSLEDLDLSGEEVQRLTSAFQDPEFRRMFSQYAEELT
                     DPENRRRYEAEITALERERGVEVRFVHPEPGHVLRTSLDGARRCFVNVCSNALVGAPS
                     SRPGSGGDRGAAPGSHWSLPYSLAPGREYAGRSSSRYMVYDVVFHPDALALARRHEGF
                     RQMLDATALEAVEKQFGVKLDRRNAKTLKAKYKGTPEAAVLRTPLPGVIPARPDGEPK
                     GPLPDFPYPYQYPAAPGPRAPSPPEAALQPAPTEPRYSVVQRHHVDLQDYRCSRDSAP
                     SPVPHELVITIELPLLRSAEQAALEVTRKLLCLDSRKPDYRLRLSLPYPVDDGRGKAQ
                     FNKARRQLVVTLPVVLPAARREPAVAVAAAAPEESADRSGTDGQACASAREGEAGPAR
                     SRAEDGGHDTCVAGAAGSGVTTLGDPEVAPPPAAAGEERVPKPGEQDLSRHAGSPPGS
                     VEEPSPGGENSPGGGGSPCLSSRSLAWGSSAGRESARGDSSVETREESEGTGGQRSAC
                     AMGGPGTKSGEPLCPPLLCNQDKETLTLLIQVPRIQPQSLQGDLNPLWYKLRFSAQDL
                     VYSFFLQFAPENKLSTTEPVISISSNNAVIELAKSPESHGHWREWYYGVNNDSLEERL
                     FVNEENVNEFLEEVLSSPFKQSMSLTPPLIEVLQVTDNKIQINAKLQECSNSDQLQGK
                     EERVNEESHLTEKEYIEHCNTPTTDSDSSIAVKALQIDSFGLVTCFQQESLDVSQMIL
                     GKSQQPESKMQSEFIKEKSATCSNEEKDNLNESVITEEKETDGDHLSSLLNKTTVHNI
                     PGFDSIKETNMQDGSVQVIKDHVTNCAFSFQNSLLYDLD"
     exon            1959..2102
                     /gene="DNAAF2"
                     /gene_synonym="C14orf104; CILD10; KTU; PF13"
                     /inference="alignment:Splign:2.1.0"
     exon            2103..2977
                     /gene="DNAAF2"
                     /gene_synonym="C14orf104; CILD10; KTU; PF13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2953..2958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF2"
                     /gene_synonym="C14orf104; CILD10; KTU; PF13"
                     /note="hexamer: AATAAA"
     polyA_site      2977
                     /gene="DNAAF2"
                     /gene_synonym="C14orf104; CILD10; KTU; PF13"
                     /note="major polyA site"
ORIGIN      
        1 gtcactgtac gctgcccaga aactctgagg cggatccccc aacccagtgt cagactgatc
       61 gcctttggcc cgagggcgag gagccacagg acagtatggc caaagcggcg gcctcctcgt
      121 cgctggagga cttggacctg agcggagagg aggtccagcg gctcacctcc gccttccagg
      181 acccggagtt ccggcgaatg ttctcccagt acgccgagga gctcaccgac ccggagaacc
      241 ggcggcgcta cgaggcggag atcaccgcgc tagagcgtga gcgcggggtg gaagtgcggt
      301 tcgtgcaccc ggagcccggc catgtgctgc gcaccagcct ggacggggcg cggcgctgct
      361 ttgtgaatgt ctgcagcaac gcgttggtgg gcgcgcccag cagccggccc ggctccggtg
      421 gcgaccgggg cgcagctcct ggcagccact ggtccctgcc ctacagcctg gcgcccggcc
      481 gcgagtacgc ggggcgcagc agcagccgct acatggtcta cgacgtggtc ttccatccag
      541 acgcgcttgc gctggcccgg cggcacgagg gcttccgcca gatgctggac gccacggccc
      601 tggaggccgt cgagaagcag ttcggcgtga agctggaccg caggaatgcc aagaccctga
      661 aggccaagta taaggggacc ccagaggctg cggtgctgcg cacgcccctg cccggggtca
      721 tccccgcaag gcctgacggg gagccgaagg gtcctctccc ggacttcccc tacccttacc
      781 agtacccggc agcccccggg ccccgggcgc cctcccctcc ggaagcggcc ttgcagcccg
      841 cccccaccga gcctcgctac agcgtggtgc agcgccacca cgtggacctc caggattacc
      901 gctgctccag ggactcagcc ccgagccccg tgccccatga gctggtgatc accatcgaac
      961 tgccgctgtt gcgctcggcc gagcaggcgg cgctggaggt aacgagaaag ctgctgtgcc
     1021 tcgactcgag gaaacctgac taccggctgc ggctctcgct cccgtaccca gtggacgatg
     1081 gccgcggcaa ggcacaattc aacaaggccc ggcggcagct ggtggttacg ctgccagtgg
     1141 tgctgccggc cgcgcgccgg gagcccgctg tcgccgtcgc cgccgccgcg ccggaagagt
     1201 ccgcggaccg gtccggaact gacggccagg cctgcgcttc cgctcgcgag ggggaggcgg
     1261 gacccgcgag gagtcgcgcg gaggacggag gccacgatac ctgcgtggct ggggctgcgg
     1321 gctccggggt caccaccctg ggcgacccgg aggtggcgcc tccgccggcc gcagctggag
     1381 aggagcgtgt ccccaagccg ggggagcagg acttgagcag gcacgcgggg tcaccgccgg
     1441 gcagcgtgga ggagccatct cctggaggag aaaactcacc tggtggcgga ggctcccctt
     1501 gtttgtcctc ccggagcctg gcgtggggtt cttctgcggg aagagagagt gcgcgcggag
     1561 atagcagtgt ggaaacacgc gaggagtcgg agggcacggg cggccagcgc tcagcctgcg
     1621 ccatgggtgg tcccgggacc aagagcgggg agcctttgtg tcctccgtta ctgtgtaatc
     1681 aggacaaaga aaccttgact ctgctcattc aggtgcctcg gatccagccg caaagtcttc
     1741 aaggagattt gaatcccctc tggtacaaat tacgcttctc cgcacaagac ttagtttatt
     1801 ccttcttttt gcaatttgct ccagagaata aattgagtac cacagaacct gtgattagca
     1861 tttcttcaaa caatgcagtg atagaactgg caaaatctcc agagagccat ggacattgga
     1921 gagagtggta ttatggtgta aacaacgatt ctttggagga aaggttattt gtcaatgaag
     1981 aaaatgttaa tgagtttctt gaagaggtcc tgagctctcc attcaaacag tctatgtcct
     2041 tgaccccacc attaattgaa gttcttcaag ttactgataa taagattcaa attaatgcaa
     2101 agttgcaaga atgtagtaac tctgatcagc tacaaggaaa ggaggaaaga gtaaatgaag
     2161 aaagtcatct aactgaaaag gaatatatag aacattgtaa cacccctaca actgattctg
     2221 attcatctat agcagttaaa gcactacaaa tagatagctt tggtttagtt acatgctttc
     2281 aacaagagtc tcttgatgtt tctcaaatga tacttggaaa atctcagcaa cctgagtcaa
     2341 aaatgcaatc tgaatttata aaagaaaaaa gtgctacttg ttcaaatgag gaaaaagata
     2401 acttaaacga gtcagtaata actgaagaga aagaaacaga tggagatcac ctatcttcat
     2461 tactgaacaa aactacggtt cacaatatac ctggattcga cagcataaaa gaaaccaata
     2521 tgcaggatgg tagtgtgcag gtcattaaag atcatgtgac caattgtgca ttcagttttc
     2581 agaattcttt gctatatgat ttggattaat tctatataat tttggacttt taaatattaa
     2641 ggttaaaaaa tacctgtatc taaaattgat tctgttaact gttgtcttaa aactaaaggt
     2701 attaaagtat aaaattaaaa tttgcaattt tttttaaaaa attgcaattt tgattctcat
     2761 gggggaaatt ggagataatt tttttttttt tgcctctgga gtttaaagtt tccttatgga
     2821 gataagtttt gtgattcctg taatagatgt gtatgttttc tatttgagag ttaaaacatt
     2881 tgagagttaa aacatttagt tttaatacaa cctatgtata tatacttctg tgttaaattt
     2941 tgctttgtca ttaataaaat ttaaaaatat tcactaa
//
