LOCUS       NM_172639               1402 bp    mRNA    linear   ROD 07-FEB-2025
DEFINITION  Mus musculus deleted in primary ciliary dyskinesia (Dpcd),
            transcript variant 1, mRNA.
ACCESSION   NM_172639
VERSION     NM_172639.3
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 1402)
  AUTHORS   McCallum-Loudeac,J., Moody,E., Williams,J., Johnstone,G.,
            Sircombe,K.J., Clarkson,A.N. and Wilson,M.J.
  TITLE     Deletion of a conserved genomic region associated with adolescent
            idiopathic scoliosis leads to vertebral rotation in mice
  JOURNAL   Hum Mol Genet 33 (9), 787-801 (2024)
   PUBMED   38280229
REFERENCE   2  (bases 1 to 1402)
  AUTHORS   Cova,G., Glaser,J., Schopflin,R., Prada-Medina,C.A., Ali,S.,
            Franke,M., Falcone,R., Federer,M., Ponzi,E., Ficarella,R.,
            Novara,F., Wittler,L., Timmermann,B., Gentile,M., Zuffardi,O.,
            Spielmann,M. and Mundlos,S.
  TITLE     Combinatorial effects on gene expression at the Lbx1/Fgf8 locus
            resolve split-hand/foot malformation type 3
  JOURNAL   Nat Commun 14 (1), 1475 (2023)
   PUBMED   36928426
  REMARK    Erratum:[Nat Commun. 2023 May 18;14(1):2839. doi:
            10.1038/s41467-023-38736-7.. PMID: 37202388]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1402)
  AUTHORS   Dafinger,C., Rinschen,M.M., Borgal,L., Ehrenberg,C., Basten,S.G.,
            Franke,M., Hohne,M., Rauh,M., Gobel,H., Bloch,W., Wunderlich,F.T.,
            Peters,D.J.M., Tasche,D., Mishra,T., Habbig,S., Dotsch,J.,
            Muller,R.U., Bruning,J.C., Persigehl,T., Giles,R.H., Benzing,T.,
            Schermer,B. and Liebau,M.C.
  TITLE     Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary
            integrity and causes renal disease and hydrocephalus
  JOURNAL   Exp Mol Med 50 (6), 1-17 (2018)
   PUBMED   29959317
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1402)
  AUTHORS   Marinic,M., Aktas,T., Ruf,S. and Spitz,F.
  TITLE     An integrated holo-enhancer unit defines tissue and gene
            specificity of the Fgf8 regulatory landscape
  JOURNAL   Dev Cell 24 (5), 530-542 (2013)
   PUBMED   23453598
REFERENCE   5  (bases 1 to 1402)
  AUTHORS   Vogel,P., Read,R.W., Hansen,G.M., Payne,B.J., Small,D., Sands,A.T.
            and Zambrowicz,B.P.
  TITLE     Congenital hydrocephalus in genetically engineered mice
  JOURNAL   Vet Pathol 49 (1), 166-181 (2012)
   PUBMED   21746835
REFERENCE   6  (bases 1 to 1402)
  AUTHORS   Vogel,P., Read,R., Hansen,G.M., Freay,L.C., Zambrowicz,B.P. and
            Sands,A.T.
  TITLE     Situs inversus in Dpcd/Poll-/-, Nme7-/-, and Pkd1l1-/- mice
  JOURNAL   Vet Pathol 47 (1), 120-131 (2010)
   PUBMED   20080492
  REMARK    GeneRIF: situs inversus in Dpcd/Poll-/- knockout mice
REFERENCE   7  (bases 1 to 1402)
  AUTHORS   Zariwala,M., O'Neal,W.K., Noone,P.G., Leigh,M.W., Knowles,M.R. and
            Ostrowski,L.E.
  TITLE     Investigation of the possible role of a novel gene, DPCD, in
            primary ciliary dyskinesia
  JOURNAL   Am J Respir Cell Mol Biol 30 (4), 428-434 (2004)
   PUBMED   14630615
REFERENCE   8  (bases 1 to 1402)
  AUTHORS   Geremek,M. and Witt,M.
  TITLE     Primary ciliary dyskinesia: genes, candidate genes and chromosomal
            regions
  JOURNAL   J Appl Genet 45 (3), 347-361 (2004)
   PUBMED   15306728
  REMARK    Review article
REFERENCE   9  (bases 1 to 1402)
  AUTHORS   Kobayashi,Y., Watanabe,M., Okada,Y., Sawa,H., Takai,H.,
            Nakanishi,M., Kawase,Y., Suzuki,H., Nagashima,K., Ikeda,K. and
            Motoyama,N.
  TITLE     Hydrocephalus, situs inversus, chronic sinusitis, and male
            infertility in DNA polymerase lambda-deficient mice: possible
            implication for the pathogenesis of immotile cilia syndrome
  JOURNAL   Mol Cell Biol 22 (8), 2769-2776 (2002)
   PUBMED   11909969
REFERENCE   10 (bases 1 to 1402)
  AUTHORS   Sidow,A., Bulotsky,M.S., Kerrebrock,A.W., Birren,B.W.,
            Altshuler,D., Jaenisch,R., Johnson,K.R. and Lander,E.S.
  TITLE     A novel member of the F-box/WD40 gene family, encoding dactylin, is
            disrupted in the mouse dactylaplasia mutant
  JOURNAL   Nat Genet 23 (1), 104-107 (1999)
   PUBMED   10471509
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BB656836.1, AK077347.1, AC126454.3 and BQ032258.1.
            
            On Oct 12, 2017 this sequence version replaced NM_172639.2.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK077347.1, BU557686.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                BB656836.1         1-30
            31-1338             AK077347.1         2-1309
            1339-1339           AC126454.3         178624-178624
            1340-1383           AK077347.1         1311-1354
            1384-1402           BQ032258.1         1-19                c
FEATURES             Location/Qualifiers
     source          1..1402
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 38.75 cM"
     gene            1..1402
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
                     /note="deleted in primary ciliary dyskinesia"
                     /db_xref="GeneID:226162"
                     /db_xref="MGI:MGI:1924407"
     exon            1..123
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..671
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neighbor of Dac; protein DPCD"
                     /codon_start=1
                     /product="protein DPCD isoform 1"
                     /protein_id="NP_766227.1"
                     /db_xref="CCDS:CCDS29862.1"
                     /db_xref="GeneID:226162"
                     /db_xref="MGI:MGI:1924407"
                     /translation="MAVTSWLEVLRSAEKTALLQDGKRMVHYLFPDGKEMAEEYDEKT
                     SELLVRKWRVKNALGALGQWQLEVGEPVPSGAGSLGSELIKESNANPIFMRKDTKTSF
                     QWRIRNLPYPKDVYSVSVAQKERCVIVRTTNKKYYKKFSIPDLDRHQLPLEDSALSFA
                     HANCTLIISYQKPKEVMAAESELQKELKKVKTAHGSAGDCKTQ"
     exon            124..204
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
                     /inference="alignment:Splign:2.1.0"
     exon            205..329
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
                     /inference="alignment:Splign:2.1.0"
     exon            330..463
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
                     /inference="alignment:Splign:2.1.0"
     exon            464..566
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
                     /inference="alignment:Splign:2.1.0"
     exon            567..1385
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
                     /inference="alignment:Splign:2.1.0"
     regulatory      826..831
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
                     /note="hexamer: AGTAAA"
     polyA_site      853
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
                     /note="major polyA site"
     regulatory      1360..1365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
                     /note="hexamer: ATTAAA"
     polyA_site      1385
                     /gene="Dpcd"
                     /gene_synonym="Gm17018; Ndac"
ORIGIN      
        1 gatcatcggt cgggtagttg ccatggcagt ggcccggcgc gttcctgggc ggagggaaga
       61 tggcggtgac tagctggttg gaggttttgc ggtcggccga gaagacggca ctgctgcagg
      121 atgggaagag gatggtgcac tatttgttcc cagacgggaa ggaaatggca gaagaatatg
      181 acgagaagac cagtgaactc cttgtgagga agtggcgtgt gaaaaatgcc ctgggagcct
      241 tgggccagtg gcagcttgaa gtgggagagc cagtgccctc aggagctggg agcctgggat
      301 ccgagctcat caaagaaagt aatgccaatc ccatcttcat gcgcaaggac accaaaacaa
      361 gtttccagtg gcggattcga aatctcccct acccgaagga tgtgtatagt gtgtctgtgg
      421 cccagaagga gcgctgcgtc attgttagaa cgacaaacaa aaagtactac aagaagttct
      481 ccatccctga cctagacaga caccagcttc ctctagagga ttctgcgttg agctttgcgc
      541 acgccaactg caccctgata atctcttatc agaagccaaa ggaggtcatg gcggctgagt
      601 cagagttaca gaaggagtta aagaaggtaa agacggccca cggcagtgct ggggactgta
      661 agacgcagta gctgtcctga gccttgcacc tccagtgagg aggaaactgt gagacttccg
      721 gcgtgggttt tatggcgcgg gcagcctctt ctcttctaag aactacagag cccctagaac
      781 tggctcgtgg ggaacagctt gcttccacct gtggctctgt tcctgagtaa agtcatttgc
      841 agttgctcta gaaggactga ctgccccttt ctctacttct gtgtattgcc cgctcctgga
      901 taccctgcct tcttagggaa gatggtggtg tgacaaccca ccccaccttc ccatcctggg
      961 gaccttccag ctaacggggg agcagagtgg gaacaggctg ggcatcttgg aactcctgtg
     1021 tgctggcttg ccttatacaa gagactcagg aaaaactcct ctgaggcagg ggtgggcaaa
     1081 agggaagttt aaacatccag ctatcttgga aacagcacag aacgttaaga cactatggtt
     1141 aaaagaacat ggttacagta ctgtcaaagg tgtgtgtatg gtaggacaga ggcgaaaggt
     1201 caccatagct caacagccta gagtcctccg acagttcctt gtctaccccc tgaggaggtt
     1261 cttggggaca cagagccata gttttgtcct ttccctgtac actgccttcc tggagccact
     1321 tagaatgacc taaccaccaa agaaccagat ttgtcaacaa ttaaatttta tttttataaa
     1381 aattaaaaaa aaaaaaaaaa aa
//
