LOCUS       NM_012472               3343 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens dynein axonemal assembly factor 11 (DNAAF11),
            transcript variant 1, mRNA.
ACCESSION   NM_012472
VERSION     NM_012472.6
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 3343)
  AUTHORS   Li,Y., Li,Y., Wang,Y., Meng,L., Tan,C., Du,J., Tan,Y.Q., Nie,H.,
            Zhang,Q., Lu,G., Lin,G., Li,H., Zhang,H. and Tu,C.
  TITLE     Identification of novel biallelic LRRC6 variants in male Chinese
            patients with primary ciliary dyskinesia and infertility
  JOURNAL   J Assist Reprod Genet 40 (1), 41-51 (2023)
   PUBMED   36515799
  REMARK    GeneRIF: Identification of novel biallelic LRRC6 variants in male
            Chinese patients with primary ciliary dyskinesia and infertility.
REFERENCE   2  (bases 1 to 3343)
  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 3343)
  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   4  (bases 1 to 3343)
  AUTHORS   Cho,K.J., Noh,S.H., Han,S.M., Choi,W.I., Kim,H.Y., Yu,S., Lee,J.S.,
            Rim,J.H., Lee,M.G., Hildebrandt,F. and Gee,H.Y.
  TITLE     ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic
            pre-assembly of dynein arms
  JOURNAL   PLoS Genet 14 (3), e1007316 (2018)
   PUBMED   29601588
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3343)
  AUTHORS   Kott,E., Duquesnoy,P., Copin,B., Legendre,M., Dastot-Le Moal,F.,
            Montantin,G., Jeanson,L., Tamalet,A., Papon,J.F., Siffroi,J.P.,
            Rives,N., Mitchell,V., de Blic,J., Coste,A., Clement,A.,
            Escalier,D., Toure,A., Escudier,E. and Amselem,S.
  TITLE     Loss-of-function mutations in LRRC6, a gene essential for proper
            axonemal assembly of inner and outer dynein arms, cause primary
            ciliary dyskinesia
  JOURNAL   Am J Hum Genet 91 (5), 958-964 (2012)
   PUBMED   23122589
  REMARK    GeneRIF: Loss-of-function mutations in LRRC6, a gene essential for
            proper axonemal assembly of inner and outer dynein arms, cause
            primary ciliary dyskinesia.
REFERENCE   6  (bases 1 to 3343)
  AUTHORS   Kavlie,R.G., Kernan,M.J. and Eberl,D.F.
  TITLE     Hearing in Drosophila requires TilB, a conserved protein associated
            with ciliary motility
  JOURNAL   Genetics 185 (1), 177-188 (2010)
   PUBMED   20215474
REFERENCE   7  (bases 1 to 3343)
  AUTHORS   Serluca,F.C., Xu,B., Okabe,N., Baker,K., Lin,S.Y.,
            Sullivan-Brown,J., Konieczkowski,D.J., Jaffe,K.M., Bradner,J.M.,
            Fishman,M.C. and Burdine,R.D.
  TITLE     Mutations in zebrafish leucine-rich repeat-containing six-like
            affect cilia motility and result in pronephric cysts, but have
            variable effects on left-right patterning
  JOURNAL   Development 136 (10), 1621-1631 (2009)
   PUBMED   19395640
REFERENCE   8  (bases 1 to 3343)
  AUTHORS   Morgan,G.W., Denny,P.W., Vaughan,S., Goulding,D., Jeffries,T.R.,
            Smith,D.F., Gull,K. and Field,M.C.
  TITLE     An evolutionarily conserved coiled-coil protein implicated in
            polycystic kidney disease is involved in basal body duplication and
            flagellar biogenesis in Trypanosoma brucei
  JOURNAL   Mol Cell Biol 25 (9), 3774-3783 (2005)
   PUBMED   15831481
REFERENCE   9  (bases 1 to 3343)
  AUTHORS   Xue,J.C. and Goldberg,E.
  TITLE     Identification of a novel testis-specific leucine-rich protein in
            humans and mice
  JOURNAL   Biol Reprod 62 (5), 1278-1284 (2000)
   PUBMED   10775177
REFERENCE   10 (bases 1 to 3343)
  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 BC047286.1, DA570320.1,
            BM981867.1, CA426602.1 and AF216667.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_012472.5.
            
            Summary: The protein encoded by this gene contains several
            leucine-rich repeat domains and appears to be involved in the
            motility of cilia. Defects in this gene are a cause of primary
            ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene
            results in multiple transcript variants. Related pseudogenes have
            been identified on chromosomes 4, 11 and 22. [provided by RefSeq,
            Apr 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: SRR1803617.261540.1,
                                           SRR1803611.4793.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000620350.5/ ENSP00000484634.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1560              BC047286.1         23-1582
            1561-2367           DA570320.1         4-810
            2368-2800           BM981867.1         123-555
            2801-3340           CA426602.1         19-558              c
            3341-3343           AF216667.4         55620-55622         c
FEATURES             Location/Qualifiers
     source          1..3343
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.22"
     gene            1..3343
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /note="dynein axonemal assembly factor 11"
                     /db_xref="GeneID:23639"
                     /db_xref="HGNC:HGNC:16725"
                     /db_xref="MIM:614930"
     exon            1..62
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             53..1453
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /note="isoform a is encoded by transcript variant 1;
                     testis-specific leucine-rich repeat protein; protein TILB
                     homolog; seahorse; leucine rich repeat containing 6"
                     /codon_start=1
                     /product="dynein axonemal assembly factor 11 isoform a"
                     /protein_id="NP_036604.2"
                     /db_xref="CCDS:CCDS6365.1"
                     /db_xref="GeneID:23639"
                     /db_xref="HGNC:HGNC:16725"
                     /db_xref="MIM:614930"
                     /translation="MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCR
                     DLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEKIENLEGCEELAKLDLTVNFIGE
                     LSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
                     DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATL
                     SSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQE
                     KLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDV
                     DVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAF
                     KSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPS
                     EEDPTFEDNPEVPPLI"
     exon            63..230
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     exon            231..308
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     exon            309..481
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     exon            482..705
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     exon            706..888
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     exon            889..966
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1026
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1096
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1192
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1278
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..3343
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1622..1627
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /note="hexamer: ATTAAA"
     polyA_site      1641
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /note="major polyA site"
     regulatory      1666..1671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /note="hexamer: AATAAA"
     polyA_site      1687
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /note="major polyA site"
     regulatory      3321..3326
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /note="hexamer: ATTAAA"
     polyA_site      3343
                     /gene="DNAAF11"
                     /gene_synonym="CILD19; LRRC6; LRTP; tilB; TSLRP"
                     /note="major polyA site"
ORIGIN      
        1 gtcattcgag gtccgggtcc ggcttgcggg gtcagcgaac tggagaggcg ccatgggctg
       61 gatcacagaa gatcttatta gacggaatgc tgaacacaac gactgtgtca ttttttccct
      121 ggaggaactc tcgttgcatc agcaagaaat agaaagacta gaacacattg ataaatggtg
      181 ccgggattta aaaattctct atcttcaaaa taatcttatt gggaaaattg aaaatgttag
      241 caaactcaag aaacttgaat atttgaattt agctttaaac aacattgaaa aaatagaaaa
      301 cttggaagga tgtgaagagc tggcaaaact tgacctgact gtgaatttca ttggagagct
      361 gagcagcatt aaaaacttgc agcacaatat ccatctgaag gagctctttc tcatggggaa
      421 cccatgtgct tcctttgacc actataggga gttcgtggta gcaactcttc cacaattaaa
      481 gtggttggat ggtaaagaaa tagagccttc agaaaggatt aaggcattgc aggactattc
      541 agtaattgaa ccacaaatca gagagcagga aaaagatcac tgtcttaaac gagccaaact
      601 caaggaagag gctcagagga aacaccaaga agaggataaa aatgaagaca agagaagtaa
      661 cgcaggcttt gatggacgtt ggtacacaga catcaatgct actctttcct ctttagagag
      721 caaagaccac ctacaggcac cagacacaga ggaacacaac acaaagaaat tagacaacag
      781 tgaagatgac ttggaattct ggaataagcc ctgtttgttt actcctgaat caagattgga
      841 aactcttaga cacatggaaa aacaacggaa gaaacaggaa aaattaagtg aaaaaaagaa
      901 gaaagtgaaa ccacccagga ctttgatcac tgaagatggg aaagccctaa atgtgaatga
      961 gcccaaaatt gacttctctt tgaaagataa cgaaaagcag atcatcctgg accttgctgt
     1021 ctataggtat atggatacct ctttaatcga tgttgatgtg caaccaactt acgtgcgagt
     1081 aatgatcaaa ggaaagccat ttcagcttgt ccttcctgca gaagtgaaac ccgatagtag
     1141 ttctgctaaa agatctcaga caacgggtca tttggtcatc tgcatgccca aggtaggaga
     1201 agtaatcaca ggtggtcagc gagcattcaa atctatgaaa actacctcgg acaggagcag
     1261 agaacaaaca aatacaagaa gcaagcacat ggagaaacta gaagtagacc ctagcaagca
     1321 ctcattccct gatgtgacta acatagttca agagaaaaaa cacacaccca gaagacgacc
     1381 tgaacccaaa attataccaa gtgaggaaga cccaaccttt gaagacaacc ctgaagtgcc
     1441 tccgctgatt tgaaacatct ggctgcgttg ccattggctg agacccacca ggtccagttt
     1501 tggttggtgt agagaccata tgcatattat tcctgggata aacacagagt tatttgtcaa
     1561 tatcgctgct ccagtgtttt aactcttact ttgcatagta atatccttaa gatagcttaa
     1621 aattaaaatg tatgtcttaa atgctataac tcatcattta cctataataa agggttggta
     1681 ttgaaaatgt ttagtaagat catagaacta ttgcataaaa cactgattat aaatactgtc
     1741 tacttatgca aagtattaat tcatagataa aaggactgag tattaaattg gtacttcagc
     1801 aaagtggtca agcttagaag ttaaaactgt aatttcagac ccaattggaa tactttaata
     1861 tgattttaaa cagcatttcc attttccttc ccatgatgtg tctgctttct ctggtggcat
     1921 ggtataatgg caagaatatg agttttgaaa ccagacactc tatatttgga ttccagctca
     1981 atcactttgt aaagaccttc agcaagtcct ttaattctct gagccttagt ggcttcatgt
     2041 ataatctggg aataataaca cttgcctcac aggtttgtct caagataaac tgcagaaagc
     2101 acttagtaca gtgtcagcca tacatttaga gcctcttctc tctctccttc ttccctttct
     2161 cctctctctt ctcctccctt tctcctgtct ctcctcctcc ctgctccttc ttcccctccc
     2221 tccccaatta cttttctccc cttattcttt ttcttcacct ttttactccc catcccactc
     2281 cttctcctct atttccttct ttactttttt aatatcctac ctcttcttta tctagaacat
     2341 tatgaattca atatttcaca tacattgtag gacaaattac tgttactctg atcatgatat
     2401 agcaacattt aagtcagttt ccccaaatat tcattcaaca aatacttatt gagcaactat
     2461 tgagtgctag ccccctctct gttcatcagg gatttagtag taacaaagca gacaaataca
     2521 tacacacaga ctatgtcagg tggtgttcag agctgtgaag gagagtcaga gtgagggaat
     2581 caagggtgat gggtgctttt tcagacaggg cctttctcta ttaaacaggc ttccagtgga
     2641 agactctgct aatgtttagc agataaccaa aatgcatcag ttagaaaaaa atatgatgag
     2701 aatgagggac tggttatagg aatgcaattg ggcacaaatg tgggaagagc tgggtagtga
     2761 agctctagaa gggagaggta gagaattgga agaagaagca ctggtacagg tagacaattc
     2821 agaacttgca cagaatctga gaagctgaag taggactgtg attgggagct tgtggagagg
     2881 tctatggaaa ttatcatgct gctgaaattg ttgcctctat ttatctgcta cccttctggt
     2941 ccgtggccaa gatcctggtg ggtgggcttg gagccagcct tcgtcagcag gcctgcggta
     3001 agaaagatgg gatggacaca cagtggtgga gatcaaggat cagctgcagc aggctgggtc
     3061 cctctgcatc tgtccatcac tgcgactgat ggcaatgact gagtataaca cctttcttca
     3121 tggtcaactc tacccaggaa ccacgtaggg aaggaaattc tggaaaacag ctcccagcct
     3181 tagccaactt gacatatcat aatccaacag aactcaacct ctaccaactt ggaaatcatg
     3241 tacatttgtc aggactgtat ttaatttcca catagagaga aagcaaaatt atacttttga
     3301 ccaaactaat agaattatcc attaaacaaa caaaactgtg cca
//
