LOCUS       NM_012144               2529 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens dynein axonemal intermediate chain 1 (DNAI1),
            transcript variant 1, mRNA.
ACCESSION   NM_012144
VERSION     NM_012144.4
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 2529)
  AUTHORS   Stevanovic,N., Skakic,A., Minic,P., Sovtic,A., Stojiljkovic,M.,
            Pavlovic,S. and Andjelkovic,M.
  TITLE     Identification and Classification of Novel Genetic Variants: En
            Route to the Diagnosis of Primary Ciliary Dyskinesia
  JOURNAL   Int J Mol Sci 22 (16), 8821 (2021)
   PUBMED   34445527
  REMARK    GeneRIF: Identification and Classification of Novel Genetic
            Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2529)
  AUTHORS   Dougherty,G.W., Mizuno,K., Nothe-Menchen,T., Ikawa,Y., Boldt,K.,
            Ta-Shma,A., Aprea,I., Minegishi,K., Pang,Y.P., Pennekamp,P.,
            Loges,N.T., Raidt,J., Hjeij,R., Wallmeier,J., Mussaffi,H.,
            Perles,Z., Elpeleg,O., Rabert,F., Shiratori,H., Letteboer,S.J.,
            Horn,N., Young,S., Strunker,T., Stumme,F., Werner,C., Olbrich,H.,
            Takaoka,K., Ide,T., Twan,W.K., Biebach,L., Grosse-Onnebrink,J.,
            Klinkenbusch,J.A., Praveen,K., Bracht,D.C., Hoben,I.M., Junger,K.,
            Gutzlaff,J., Cindric,S., Aviram,M., Kaiser,T., Memari,Y.,
            Dzeja,P.P., Dworniczak,B., Ueffing,M., Roepman,R., Bartscherer,K.,
            Katsanis,N., Davis,E.E., Amirav,I., Hamada,H. and Omran,H.
  TITLE     CFAP45 deficiency causes situs abnormalities and asthenospermia by
            disrupting an axonemal adenine nucleotide homeostasis module
  JOURNAL   Nat Commun 11 (1), 5520 (2020)
   PUBMED   33139725
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2529)
  AUTHORS   Blanchon,S., Legendre,M., Bottier,M., Tamalet,A., Montantin,G.,
            Collot,N., Faucon,C., Dastot,F., Copin,B., Clement,A., Filoche,M.,
            Coste,A., Amselem,S., Escudier,E., Papon,J.F. and Louis,B.
  TITLE     Deep phenotyping, including quantitative ciliary beating
            parameters, and extensive genotyping in primary ciliary dyskinesia
  JOURNAL   J Med Genet 57 (4), 237-244 (2020)
   PUBMED   31772028
  REMARK    GeneRIF: Deep phenotyping, including quantitative ciliary beating
            parameters, and extensive genotyping in primary ciliary dyskinesia.
REFERENCE   4  (bases 1 to 2529)
  AUTHORS   Takeuchi,K., Kitano,M., Kiyotoshi,H., Ikegami,K., Ogawa,S.,
            Ikejiri,M., Nagao,M., Fujisawa,T. and Nakatani,K.
  TITLE     A targeted next-generation sequencing panel reveals novel mutations
            in Japanese patients with primary ciliary dyskinesia
  JOURNAL   Auris Nasus Larynx 45 (3), 585-591 (2018)
   PUBMED   28939216
  REMARK    GeneRIF: A novel mutation causing primary ciliary dyskinesia was
            found in Japanese patients.
REFERENCE   5  (bases 1 to 2529)
  AUTHORS   Jeanson,L., Thomas,L., Copin,B., Coste,A., Sermet-Gaudelus,I.,
            Dastot-Le Moal,F., Duquesnoy,P., Montantin,G., Collot,N.,
            Tissier,S., Papon,J.F., Clement,A., Louis,B., Escudier,E.,
            Amselem,S. and Legendre,M.
  TITLE     Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory
            Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal
            Disorganization
  JOURNAL   Hum Mutat 37 (8), 776-785 (2016)
   PUBMED   27120127
REFERENCE   6  (bases 1 to 2529)
  AUTHORS   Tai,C.Y., Dujardin,D.L., Faulkner,N.E. and Vallee,R.B.
  TITLE     Role of dynein, dynactin, and CLIP-170 interactions in LIS1
            kinetochore function
  JOURNAL   J Cell Biol 156 (6), 959-968 (2002)
   PUBMED   11889140
REFERENCE   7  (bases 1 to 2529)
  AUTHORS   Zariwala,M., Noone,P.G., Sannuti,A., Minnix,S., Zhou,Z.,
            Leigh,M.W., Hazucha,M., Carson,J.L. and Knowles,M.R.
  TITLE     Germline mutations in an intermediate chain dynein cause primary
            ciliary dyskinesia
  JOURNAL   Am J Respir Cell Mol Biol 25 (5), 577-583 (2001)
   PUBMED   11713099
REFERENCE   8  (bases 1 to 2529)
  AUTHORS   Guichard,C., Harricane,M.C., Lafitte,J.J., Godard,P., Zaegel,M.,
            Tack,V., Lalau,G. and Bouvagnet,P.
  TITLE     Axonemal dynein intermediate-chain gene (DNAI1) mutations result in
            situs inversus and primary ciliary dyskinesia (Kartagener syndrome)
  JOURNAL   Am J Hum Genet 68 (4), 1030-1035 (2001)
   PUBMED   11231901
REFERENCE   9  (bases 1 to 2529)
  AUTHORS   Pennarun,G., Escudier,E., Chapelin,C., Bridoux,A.M., Cacheux,V.,
            Roger,G., Clement,A., Goossens,M., Amselem,S. and Duriez,B.
  TITLE     Loss-of-function mutations in a human gene related to Chlamydomonas
            reinhardtii dynein IC78 result in primary ciliary dyskinesia
  JOURNAL   Am J Hum Genet 65 (6), 1508-1519 (1999)
   PUBMED   10577904
REFERENCE   10 (bases 1 to 2529)
  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 DB046118.1, AF091619.1 and
            AI784188.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_012144.3.
            
            Summary: This gene encodes a member of the dynein intermediate
            chain family. The encoded protein is part of the dynein complex in
            respiratory cilia. The inner- and outer-arm dyneins, which bridge
            between the doublet microtubules in axonemes, are the
            force-generating proteins responsible for the sliding movement in
            axonemes. The intermediate and light chains, thought to form the
            base of the dynein arm, help mediate attachment and may also
            participate in regulating dynein activity. Mutations in this gene
            result in abnormal ciliary ultrastructure and function associated
            with primary ciliary dyskinesia and Kartagener syndrome.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) encodes 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 :: BC030583.2, AF091619.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242317.9/ ENSP00000242317.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                DB046118.1         54-83
            31-2468             AF091619.1         1-2438
            2469-2529           AI784188.1         12-72               c
FEATURES             Location/Qualifiers
     source          1..2529
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..2529
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /note="dynein axonemal intermediate chain 1"
                     /db_xref="GeneID:27019"
                     /db_xref="HGNC:HGNC:2954"
                     /db_xref="MIM:604366"
     exon            1..249
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     CDS             202..2301
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     immotile cilia syndrome 1; dynein, axonemal, intermediate
                     polypeptide 1; testis tissue sperm-binding protein Li 87P"
                     /codon_start=1
                     /product="dynein axonemal intermediate chain 1 isoform 1"
                     /protein_id="NP_036276.1"
                     /db_xref="CCDS:CCDS6557.1"
                     /db_xref="GeneID:27019"
                     /db_xref="HGNC:HGNC:2954"
                     /db_xref="MIM:604366"
                     /translation="MIPASAKAPHKQPHKQSISIGRGTRKRDEDSGTEVGEGTDEWAQ
                     SKATVRPPDQLELTDAELKEEFTRILTANNPHAPQNIVRYSFKEGTYKPIGFVNQLAV
                     HYTQVGNLIPKDSDEGRRQHYRDELVAGSQESVKVISETGNLEEDEEPKELETEPGSQ
                     TDVPAAGAAEKVTEEELMTPKQPKERKLTNQFNFSERASQTYNNPVRDRECQTEPPPR
                     TNFSATANQWEIYDAYVEELEKQEKTKEKEKAKTPVAKKSGKMAMRKLTSMESQTDDL
                     IKLSQAAKIMERMVNQNTYDDIAQDFKYYDDAADEYRDQVGTLLPLWKFQNDKAKRLS
                     VTALCWNPKYRDLFAVGYGSYDFMKQSRGMLLLYSLKNPSFPEYMFSSNSGVMCLDIH
                     VDHPYLVAVGHYDGNVAIYNLKKPHSQPSFCSSAKSGKHSDPVWQVKWQKDDMDQNLN
                     FFSVSSDGRIVSWTLVKRKLVHIDVIKLKVEGSTTEVPEGLQLHPVGCGTAFDFHKEI
                     DYMFLVGTEEGKIYKCSKSYSSQFLDTYDAHNMSVDTVSWNPYHTKVFMSCSSDWTVK
                     IWDHTIKTPMFIYDLNSAVGDVAWAPYSSTVFAAVTTDGKAHIFDLAINKYEAICNQP
                     VAAKKNRLTHVQFNLIHPIIIVGDDRGHIISLKLSPNLRKMPKEKKGQEVQKGPAVEI
                     AKLDKLLNLVREVKIKT"
     exon            250..282
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            283..381
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            382..462
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            463..589
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            590..702
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            703..822
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            823..882
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1017
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1102
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1220
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..1264
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1512
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1602
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1603..1690
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1691..1770
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1771..1919
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1920..2019
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            2020..2202
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     exon            2203..2529
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2508..2513
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /note="hexamer: AATAAA"
     polyA_site      2529
                     /gene="DNAI1"
                     /gene_synonym="CILD1; DIC1; ICS1; oda6; PCD"
                     /note="major polyA site"
ORIGIN      
        1 ggttgctggg taaccgcgtc agggagttgg attctatcct gcaagggcac ggggacccac
       61 aacgacggct gtccctaaag aaccgttgcg actggtaact gaagtggaag agagtccaga
      121 tttcttgtgt gtggtcaagg agacggacaa actttttgtc ttcagacgag ggagcgtttt
      181 gtaggctctc caggggttga gatgattcct gcttctgcga aggctcccca taaacagcct
      241 cataagcaga gcatcagcat aggcagagga accaggaaga gagatgaaga ttcagggact
      301 gaagtgggag aaggcacaga tgaatgggcc caatccaaag ccacagttag accccctgac
      361 cagctggagt tgaccgatgc ggagttaaag gaggagttca ctcggatttt gacagccaac
      421 aacccacacg caccccagaa cattgtcagg tacagcttca aagaaggcac atataagcct
      481 attggctttg tgaaccaact ggcagttcac tacacccagg ttgggaacct gatccccaaa
      541 gactcagatg aaggacggcg gcagcattac cgcgatgaat tagtggcagg ttctcaggag
      601 tctgtcaagg tgatttcaga aacaggaaac ctcgaagaag acgaagagcc caaggagtta
      661 gaaactgagc ctgggagtca aacagatgtg cctgcagctg gggcagctga aaaagtgact
      721 gaagaagaat tgatgactcc taagcagccc aaggagagaa agctcactaa ccagttcaac
      781 ttcagtgaga gggcctcaca gacctacaac aaccctgtcc gggatcgaga atgccagacg
      841 gagcctcctc ccaggacaaa cttttcagcc acagccaatc agtgggagat ctatgatgcc
      901 tatgtagagg aacttgagaa gcaggaaaag accaaagaga aggagaaggc aaagacccca
      961 gtggctaaaa aatcagggaa gatggccatg aggaagctga catctatgga gtctcagact
     1021 gatgatctca tcaaattgtc ccaagctgct aagatcatgg agcggatggt caaccagaat
     1081 acatatgatg acattgctca agattttaag tactatgacg atgctgctga tgaataccgg
     1141 gaccaggtgg gtaccctgct gccgctctgg aagttccaaa atgacaaagc caagcgcctg
     1201 tccgtcactg ccctctgctg gaatccaaag tacagggatc tgtttgcagt gggatatggc
     1261 tcttatgact tcatgaagca gagccggggc atgctgctgc tctacagcct gaagaacccc
     1321 agcttccctg agtacatgtt cagcagcaac agcggcgtca tgtgtctcga catccacgtg
     1381 gaccacccct acctggtggc agtaggccac tatgacggca acgtggccat ttacaacctc
     1441 aagaagcccc actcccagcc ctccttctgc agctcagcca agtctggcaa gcactcagac
     1501 cctgtgtggc aggtcaagtg gcagaaggat gacatggacc aaaaccttaa cttcttctct
     1561 gtgtcatctg acggcaggat tgtgtcttgg actctcgtga agagaaagct ggttcacata
     1621 gatgtcatca agctgaaggt ggaaggcagc accacggaag ttcctgaggg gttgcagctg
     1681 cacccagtgg gttgtggcac tgcctttgac ttccacaaag agattgacta catgttccta
     1741 gtgggcacag aggagggaaa aatctacaag tgctctaaat cctactccag ccaattcctc
     1801 gacacctatg acgcccacaa catgtcagtg gacactgtgt cctggaaccc ataccacacc
     1861 aaggtcttca tgtcctgcag ctccgactgg acagtgaaga tctgggacca caccatcaag
     1921 accccgatgt tcatctatga cctgaactca gccgtgggtg atgtggcctg ggcgccatac
     1981 tcttctactg tgttcgcagc agtcaccaca gatgggaagg cccacatatt tgacttagcc
     2041 atcaacaagt atgaggccat ctgcaaccag cctgtggcgg ccaaaaagaa caggctcacc
     2101 cacgtgcagt tcaatctcat ccaccccatc atcattgtgg gcgatgaccg tgggcacatc
     2161 atcagcctca agctctcacc caatttgcgc aagatgccaa aggaaaagaa ggggcaggag
     2221 gtgcagaagg gtccagctgt ggagattgcg aaactggaca aactgctgaa cctggtgagg
     2281 gaagtgaaaa tcaagacctg aggggctggc ctcagtctct gtcccatcgc ttgaatacag
     2341 tactcctagg gcttgaccct ggtacccagc ccagccttag cacccagcat gtgaccccac
     2401 tcctgatcag gtcccagcat cttcccttct tgttctgttc cttaaggtcc cagcacctta
     2461 ccccaggact tggtcttcaa ccaccattac ccctctaact ttgcacaaat aaacctgtgt
     2521 agaaaccca
//
