LOCUS       NM_145038               2487 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens dynein regulatory complex subunit 1 (DRC1), mRNA.
ACCESSION   NM_145038
VERSION     NM_145038.5
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 2487)
  AUTHORS   Xu,Y., Feng,G., Yano,T., Masuda,S., Nagao,M., Gotoh,S., Ikejiri,M.,
            Tanabe,M. and Takeuchi,K.
  TITLE     Characteristic genetic spectrum of primary ciliary dyskinesia in
            Japanese patients and global ethnic heterogeneity: population-based
            genomic variation database analysis
  JOURNAL   J Hum Genet 68 (7), 455-461 (2023)
   PUBMED   36864285
  REMARK    GeneRIF: Characteristic genetic spectrum of primary ciliary
            dyskinesia in Japanese patients and global ethnic heterogeneity:
            population-based genomic variation database analysis.
REFERENCE   2  (bases 1 to 2487)
  AUTHORS   Kim,M.J., Kim,S., Chae,S.W., Lee,S., Yoon,J.G., Kim,B., Lee,J.S.,
            Chae,J.H., Seong,M.W. and Moon,J.
  TITLE     Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean
            patients with primary ciliary dyskinesia
  JOURNAL   J Hum Genet 68 (6), 369-374 (2023)
   PUBMED   36747106
  REMARK    GeneRIF: Prevalence and founder effect of DRC1 exon 1-4 deletion in
            Korean patients with primary ciliary dyskinesia.
REFERENCE   3  (bases 1 to 2487)
  AUTHORS   Zhang,J., He,X., Wu,H., Zhang,X., Yang,S., Liu,C., Liu,S., Hua,R.,
            Zhou,S., Zhao,S., Hu,F., Zhang,J., Liu,W., Cheng,H., Gao,Y.,
            Zhang,F., Cao,Y. and Liu,M.
  TITLE     Loss of DRC1 function leads to multiple morphological abnormalities
            of the sperm flagella and male infertility in human and mouse
  JOURNAL   Hum Mol Genet 30 (21), 1996-2011 (2021)
   PUBMED   34169321
  REMARK    GeneRIF: Loss of DRC1 function leads to multiple morphological
            abnormalities of the sperm flagella and male infertility in human
            and mouse.
REFERENCE   4  (bases 1 to 2487)
  AUTHORS   Takeuchi,K., Xu,Y., Kitano,M., Chiyonobu,K., Abo,M., Ikegami,K.,
            Ogawa,S., Ikejiri,M., Kondo,M., Gotoh,S., Nagao,M., Fujisawa,T. and
            Nakatani,K.
  TITLE     Copy number variation in DRC1 is the major cause of primary ciliary
            dyskinesia in the Japanese population
  JOURNAL   Mol Genet Genomic Med 8 (3), e1137 (2020)
   PUBMED   31960620
  REMARK    GeneRIF: Copy number variation in DRC1 is the major cause of
            primary ciliary dyskinesia in the Japanese population.
REFERENCE   5  (bases 1 to 2487)
  AUTHORS   Morimoto,K., Hijikata,M., Zariwala,M.A., Nykamp,K., Inaba,A.,
            Guo,T.C., Yamada,H., Truty,R., Sasaki,Y., Ohta,K., Kudoh,S.,
            Leigh,M.W., Knowles,M.R. and Keicho,N.
  TITLE     Recurring large deletion in DRC1 (CCDC164) identified as causing
            primary ciliary dyskinesia in two Asian patients
  JOURNAL   Mol Genet Genomic Med 7 (8), e838 (2019)
   PUBMED   31270959
  REMARK    GeneRIF: Study report a 50-year-old Japanese male and 5 years old
            girl of Korean descent with primary ciliary dyskinesia (PCD)
            harboring a large homozygous deletion spanning exons 1- 4 of the
            DRC1. Four carriers of the same deletion among 965 Asian
            individuals were identified, whereas no deletion was found in the
            23,951 non-Asians. Authors speculate that the DRC1 deletion is a
            recurrent or perhaps founder PCD mutation in Asians.
REFERENCE   6  (bases 1 to 2487)
  AUTHORS   Oda,T., Yanagisawa,H. and Kikkawa,M.
  TITLE     Detailed structural and biochemical characterization of the
            nexin-dynein regulatory complex
  JOURNAL   Mol Biol Cell 26 (2), 294-304 (2015)
   PUBMED   25411337
REFERENCE   7  (bases 1 to 2487)
  AUTHORS   Raidt,J., Wallmeier,J., Hjeij,R., Onnebrink,J.G., Pennekamp,P.,
            Loges,N.T., Olbrich,H., Haffner,K., Dougherty,G.W., Omran,H. and
            Werner,C.
  TITLE     Ciliary beat pattern and frequency in genetic variants of primary
            ciliary dyskinesia
  JOURNAL   Eur Respir J 44 (6), 1579-1588 (2014)
   PUBMED   25186273
REFERENCE   8  (bases 1 to 2487)
  AUTHORS   Wirschell,M., Olbrich,H., Werner,C., Tritschler,D., Bower,R.,
            Sale,W.S., Loges,N.T., Pennekamp,P., Lindberg,S., Stenram,U.,
            Carlen,B., Horak,E., Kohler,G., Nurnberg,P., Nurnberg,G.,
            Porter,M.E. and Omran,H.
  TITLE     The nexin-dynein regulatory complex subunit DRC1 is essential for
            motile cilia function in algae and humans
  JOURNAL   Nat Genet 45 (3), 262-268 (2013)
   PUBMED   23354437
  REMARK    GeneRIF: Loss-of-function mutations disrupting DRC1 result in
            severe defects in assembly of the N-DRC structure and defective
            ciliary movement in Chlamydomonas reinhardtii and humans
REFERENCE   9  (bases 1 to 2487)
  AUTHORS   Carlen,B., Lindberg,S. and Stenram,U.
  TITLE     Absence of nexin links as a possible cause of primary ciliary
            dyskinesia
  JOURNAL   Ultrastruct Pathol 27 (2), 123-126 (2003)
   PUBMED   12746204
REFERENCE   10 (bases 1 to 2487)
  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 DB021259.1, AC093378.5,
            AK057222.1, KF459613.1 and BC009488.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_145038.4.
            
            Summary: This gene encodes a central component of the nexin-dynein
            complex (N-DRC), which regulates the assembly of ciliary dynein.
            Mutations in this gene can cause ciliary dyskinesia. [provided by
            RefSeq, Aug 2015].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK057222.1, AK289953.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000288710.7/ ENSP00000288710.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-548               DB021259.1         9-556
            549-565             AC093378.5         7952-7968
            566-1264            AK057222.1         570-1268
            1265-1265           AC093378.5         28306-28306
            1266-1893           AK057222.1         1270-1897
            1894-1894           KF459613.1         167-167
            1895-2487           BC009488.2         1626-2218
FEATURES             Location/Qualifiers
     source          1..2487
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..2487
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /note="dynein regulatory complex subunit 1"
                     /db_xref="GeneID:92749"
                     /db_xref="HGNC:HGNC:24245"
                     /db_xref="MIM:615288"
     exon            1..225
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..2293
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /note="coiled-coil domain-containing protein 164"
                     /codon_start=1
                     /product="dynein regulatory complex protein 1"
                     /protein_id="NP_659475.2"
                     /db_xref="CCDS:CCDS1723.1"
                     /db_xref="GeneID:92749"
                     /db_xref="HGNC:HGNC:24245"
                     /db_xref="MIM:615288"
                     /translation="MNPPGSLEALDPNVDEHLSTQILAPSVHSDNSQERIQARRLRIA
                     ARLEARRREALGEYLDGKKESEEDQSKSYKQKEESRLKLAKLLLCGTELVTNIQVAID
                     IREIHRRVEEEEIKRQRIEKLENEVKTSQDKFDEITSKWEEGKQKRIPQELWEMLNTQ
                     QLHCAGLLEDKNKLISELQQELKTKDDQYVKDLKKQSDDICLLLERMEEQVKNVMKTF
                     REELYNIEKAFEVERQELLASNKKKWEQALQAHNAKELEYLNNRMKKVEDYEKQLNRQ
                     RIWDCEEYNMIKIKLEQDVQILEQQLQQRKAIYQLNQEKLEYNLQVLKKRDEESTVIK
                     SQQKRKINRLHDILNNLRSKYAKQIKQFQEENQSLTSDYKRLVMQFKELQKAMRHFAL
                     IDDEKFWEIWLMNEEEAKDLIARAFDVDRIIHTHHLGLPWAAPDFWFLNNVGPISQQP
                     QKSATQIVEEMLMRSEEEEAEEAAAEPESYLDLPKQISEKTTKRILMLLCDESGFLIE
                     SKLLSLLLPLEQNECYLLRLDAIFSALGIESEDDLYKLVNFFLKYRAHRLSSSLQIKP
                     CSQASMEKASMEETSTRSELELAEQTEMEGEKEESLVEGEKEEEEETPPSPWVIHPND
                     VLKILEAFVMGLKKPRDSRAPLRVQKNVRDNSKDSEYWQALTTVIPSSKQNLWDALYT
                     ALEKYHLVLTQRAKLLLENSSLEQQNTELQALLQQYLNSKINSELQVPPTQVLRVPTK
                     "
     exon            226..313
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            314..426
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            427..610
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            611..748
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            749..835
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            836..958
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1098
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1233
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1466
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            1467..1579
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            1580..1669
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            1670..1759
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            1760..1989
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            1990..2133
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            2134..2236
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     exon            2237..2487
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2468..2473
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /note="hexamer: ATTAAA"
     polyA_site      2487
                     /gene="DRC1"
                     /gene_synonym="C2orf39; CCDC164; CILD21; SPGF80"
                     /note="major polyA site"
ORIGIN      
        1 gttcctagca accagcctga ggtctggagg tggtgcggag ggagccgcct agggaccagg
       61 gactcctgcc atgaatccgc cggggtccct agaggccctg gacccgaacg tggacgagca
      121 cttgtccacc cagattctcg cgccctcggt ccactccgac aactctcagg agcgcatcca
      181 ggcccggcgc ctccgcatcg ctgcgcgctt agaagcccgg aggcgggaag cacttggaga
      241 atatttagat gggaagaagg agagtgagga ggatcaaagc aagagctaca aacagaaaga
      301 agaaagccga ttgaaattgg ctaaacttct gctctgtggc accgagttgg tgacaaatat
      361 ccaggtggct atagatatca gagagattca caggagagtc gaagaagagg agataaagcg
      421 tcaaaggatt gagaagctgg agaatgaagt taagaccagc caggacaaat tcgatgaaat
      481 cacctcaaag tgggaagagg gcaagcagaa gagaattccc caagagctgt gggaaatgct
      541 caatacccaa cagctgcact gtgctggact cttagaagat aagaataaac tcatcagcga
      601 gttacagcag gagttaaaaa caaaggatga ccagtatgtg aaggatttga agaaacagtc
      661 agatgacatc tgcctgcttc tggagcggat ggaagaacag gtgaagaatg tgatgaaaac
      721 ctttcgtgag gagctctata acattgagaa agcatttgag gtggaacgcc aagagctact
      781 ggccagtaat aagaagaaat gggagcaagc ccttcaggct cataatgcca aagagctgga
      841 gtatcttaac aaccgcatga agaaagtaga ggactatgag aagcagctga acaggcagag
      901 gatctgggat tgcgaagaat acaacatgat caagatcaag ctggagcagg atgtgcagat
      961 tcttgagcag cagcttcagc agaggaaagc aatttatcag ctaaaccaag agaaattaga
     1021 gtacaacttg caggtgctga agaagagaga tgaagaaagc acagtaatta aatcccagca
     1081 gaagaggaag atcaatcgcc tgcatgatat acttaacaat ctgagatcaa aatatgccaa
     1141 gcaaataaag cagtttcagg aggagaacca gtctctaacc tcggactaca aacgtcttgt
     1201 gatgcaattc aaggagctac agaaagccat gaggcatttt gctcttattg atgatgagaa
     1261 gttttgggag atttggctga tgaatgaaga ggaggcgaag gacctaatag ccagagcctt
     1321 tgatgtggac aggatcatcc acacccatca tctggggctt ccctgggcag cacctgattt
     1381 ctggttcctg aacaatgttg ggcctatttc tcagcagccc cagaagtccg ccacacagat
     1441 agtagaagaa atgcttatgc gctcagaaga ggaggaggca gaagaggccg ccgcggaacc
     1501 agagtcctac ctggatttgc cgaagcaaat ttctgaaaaa actaccaaga ggatcctgat
     1561 gctcctgtgt gacgagtcgg ggttcctcat agagagcaag ctgctgagcc ttctcctgcc
     1621 cctggagcag aatgaatgct atctgctgag gctggatgcc atcttctccg cccttggaat
     1681 tgaaagtgag gatgacttgt ataaactggt gaacttcttc cttaaatatc gagctcaccg
     1741 tttatcttcc agcctccaga tcaagccctg cagtcaggcg agcatggaga aggcgagcat
     1801 ggaggagaca agcacgaggt cagaattgga gctggcagag cagacggaga tggagggaga
     1861 aaaggaagaa agcctggtgg aaggggagaa ggaggaagag gaggagaccc caccctcccc
     1921 ctgggtcatc caccccaatg atgtcctcaa gattctggag gccttcgtca tgggtctgaa
     1981 gaagcctagg gactcgcggg ccccgctgag ggtacagaag aatgtgcgtg acaactccaa
     2041 ggactcggag tactggcagg ccctgaccac agtgatccct tcctccaagc agaacctctg
     2101 ggatgccctc tacacagcct tggagaagta ccaccttgtc ctgacccaga gggccaagct
     2161 gctgctggaa aacagttctc tggagcagca gaacacagag ctgcaggcgc tactgcagca
     2221 gtatctgaac tccaagatca actctgaact gcaagttcct cccactcagg tgttgcgggt
     2281 acccacaaaa tgagctggac cgccaaaggc tgatgtgtta gggctggcct gatgctggtg
     2341 tctgtgccgg agccagctca tatcacccac tgggccgcac ctgggcctgc tctctggatt
     2401 ttccagggct gtctttatag cctgtcgaaa taaggagcca gaggagttac ctgtgtcctg
     2461 cattatgatt aaagcctttt aaagttg
//
