LOCUS       NM_031294               2031 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens dynein regulatory complex subunit 3 (DRC3), transcript
            variant 2, mRNA.
ACCESSION   NM_031294 XM_005256808 XM_942196 XM_945780
VERSION     NM_031294.4
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 2031)
  AUTHORS   Zhou,S., Yuan,S., Zhang,J., Meng,L., Zhang,X., Liu,S., Lu,G.,
            Lin,G., Liu,M. and Tan,Y.Q.
  TITLE     DRC3 is an assembly adapter of the nexin-dynein regulatory complex
            functional components during spermatogenesis in humans and mice
  JOURNAL   Signal Transduct Target Ther 8 (1), 26 (2023)
   PUBMED   36627292
  REMARK    GeneRIF: DRC3 is an assembly adapter of the nexin-dynein regulatory
            complex functional components during spermatogenesis in humans and
            mice.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2031)
  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
REFERENCE   3  (bases 1 to 2031)
  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 2031)
  AUTHORS   Olbrich,H., Cremers,C., Loges,N.T., Werner,C., Nielsen,K.G.,
            Marthin,J.K., Philipsen,M., Wallmeier,J., Pennekamp,P., Menchen,T.,
            Edelbusch,C., Dougherty,G.W., Schwartz,O., Thiele,H., Altmuller,J.,
            Rommelmann,F. and Omran,H.
  TITLE     Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia
            and Disrupt the Nexin-Dynein Regulatory Complex
  JOURNAL   Am J Hum Genet 97 (4), 546-554 (2015)
   PUBMED   26387594
REFERENCE   5  (bases 1 to 2031)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   6  (bases 1 to 2031)
  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
REFERENCE   7  (bases 1 to 2031)
  AUTHORS   Bi,W., Yan,J., Stankiewicz,P., Park,S.S., Walz,K., Boerkoel,C.F.,
            Potocki,L., Shaffer,L.G., Devriendt,K., Nowaczyk,M.J., Inoue,K. and
            Lupski,J.R.
  TITLE     Genes in a refined Smith-Magenis syndrome critical deletion
            interval on chromosome 17p11.2 and the syntenic region of the mouse
  JOURNAL   Genome Res 12 (5), 713-728 (2002)
   PUBMED   11997338
REFERENCE   8  (bases 1 to 2031)
  AUTHORS   Lucas,R.E., Vlangos,C.N., Das,P., Patel,P.I. and Elsea,S.H.
  TITLE     Genomic organisation of the approximately 1.5 Mb Smith-Magenis
            syndrome critical interval: transcription map, genomic contig, and
            candidate gene analysis
  JOURNAL   Eur J Hum Genet 9 (12), 892-902 (2001)
   PUBMED   11840190
REFERENCE   9  (bases 1 to 2031)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB032678.1, BC047873.1, AK093317.1 and BC050665.1.
            
            On May 17, 2019 this sequence version replaced NM_031294.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.148613.1,
                                           SRR3476690.268723.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000399187.6/ ENSP00000382140.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                DB032678.1         50-72
            24-696              BC047873.1         1-673
            697-2000            AK093317.1         597-1900
            2001-2031           BC050665.1         1996-2026
FEATURES             Location/Qualifiers
     source          1..2031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..2031
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /note="dynein regulatory complex subunit 3"
                     /db_xref="GeneID:83450"
                     /db_xref="HGNC:HGNC:25384"
                     /db_xref="MIM:618758"
     exon            1..113
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            114..224
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            225..401
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     CDS             242..1813
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /note="isoform a is encoded by transcript variant 2;
                     leucine-rich repeat-containing protein 48; leucine rich
                     repeat containing 48"
                     /codon_start=1
                     /product="dynein regulatory complex subunit 3 isoform a"
                     /protein_id="NP_112584.3"
                     /db_xref="CCDS:CCDS45622.1"
                     /db_xref="GeneID:83450"
                     /db_xref="HGNC:HGNC:25384"
                     /db_xref="MIM:618758"
                     /translation="MNQPCNSMEPRVMDDDMLKLAVGDQGPQEEAGQLAKQEGILFKD
                     VLSLQLDFRNILRIDNLWQFENLRKLQLDNNIIEKIEGLENLAHLVWLDLSFNNIETI
                     EGLDTLVNLEDLSLFNNRISKIDSLDALVKLQVLSLGNNRIDNMMNIIYLRRFKCLRT
                     LSLSRNPISEAEDYKMFICAYLPDLMYLDYRRIDDHTKKLAEAKHQYSIDELKHQENL
                     MQAQLEDEQAQREELEKHKTAFVEHLNGSFLFDSMYAEDSEGNNLSYLPGVGELLETY
                     KDKFVIICVNIFEYGLKQQEKRKTELDTFSECVREAIQENQEQGKRKIAKFEEKHLSS
                     LSAIREELELPNIEKMILECSADISELFDALMTLEMQLVEQLEETINMFERNIVDMVG
                     LFIENVQSLMAQCRDLENHHHEKLLEISISTLEKIVEGDLDEDLPNDLRALFVDKDTI
                     VNAVGASHDIHLLKIDNREDELVTRINSWCTRLIDRIHKDEIMRNRKRVKEINQYIDH
                     MQSELDNLECGDILD"
     exon            402..518
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            519..685
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            686..832
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            833..952
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            953..1065
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1240
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1372
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1373..1443
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1567
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1568..1699
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1700..2031
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1982..1987
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /note="hexamer: AATAAA"
     polyA_site      2001
                     /gene="DRC3"
                     /gene_synonym="CFAP134; LRRC48"
                     /note="major polyA site"
ORIGIN      
        1 aggatgtctc ccttctgact tccccttagc aaccaagtcg cggcgcttgg ttccccagca
       61 accgggagac gcgtctgctg cgtggaaccg ccgagttccc agcgcttgag aaggaaaatt
      121 ctggatctgt tatctgtgag gaggccactc cgttgacagt tgtgtaaaac tctgctgctt
      181 tccccagctc caacctctct ggtcttcaac aacactatca tcagggaaaa cgtgggggaa
      241 gatgaaccag ccgtgcaact cgatggagcc gagggtgatg gacgatgaca tgctcaagct
      301 ggccgtcggg gaccagggcc cccaggagga ggccgggcag ctggccaagc aggagggcat
      361 cctcttcaag gatgtcctgt ccctgcagct ggactttcgg aacatcctcc gcatagacaa
      421 cctctggcag tttgagaact tgaggaagct gcagctggac aataacatca ttgagaagat
      481 cgagggcctg gagaacctcg cacacctggt ctggctggat ctgtctttca acaacattga
      541 gaccatcgag gggctggaca cactggtgaa cctggaggac ctgagcttgt tcaacaaccg
      601 gatctccaag atcgactccc tggacgccct cgtcaagctg caggtgttgt cgctgggcaa
      661 caaccggatt gacaacatga tgaacatcat ctacctccgg cggttcaagt gcctgcggac
      721 gctcagcctc tctaggaacc ctatctctga ggcagaggat tacaagatgt tcatctgtgc
      781 ctaccttcct gacctcatgt acctggacta ccggcgcatt gatgaccaca caaaaaagct
      841 tgcggaggct aagcaccagt acagcatcga cgagctgaag caccaggaga acctgatgca
      901 ggcccagctg gaggacgagc aggcgcagcg ggaggagcta gagaagcaca agactgcgtt
      961 tgtggaacac ctgaatggct ccttcctgtt tgacagcatg tacgctgagg actcagaggg
     1021 caacaatctg tcctacctgc ctggtgtcgg tgagctcctt gagacctaca aggacaagtt
     1081 tgtcatcatc tgcgtgaata tttttgagta tggcctgaaa cagcaggaga agcggaaaac
     1141 agagcttgac accttcagtg aatgtgtccg tgaggccatc caggaaaacc aggagcaggg
     1201 caaacgcaag attgccaaat tcgaggagaa gcacttgtcg agtttaagtg ccattcgaga
     1261 ggagttggaa ctgcccaaca ttgagaagat gatcctagaa tgcagtgctg acatcagtga
     1321 gttgttcgat gcgctcatga cgctggagat gcagctggtg gagcagctgg aggagactat
     1381 aaacatgttt gaaaggaaca ttgttgacat ggtaggactg tttatcgaaa atgtccaaag
     1441 cctgatggct cagtgccggg acctggagaa tcaccaccac gagaagctcc tggagatctc
     1501 tatcagcacc ctggagaaga ttgtcgaggg cgacctggac gaggacctgc ctaacgacct
     1561 gcgcgcgctt tttgtcgata aagatacgat tgttaatgct gtcggggcat cgcacgacat
     1621 ccacctcctg aagattgaca atcgagaaga tgagctggtg accagaatca actcttggtg
     1681 tacacgttta atagacagga ttcacaagga tgagatcatg aggaaccgca agcgcgtgaa
     1741 ggagatcaat cagtacatcg accacatgca gagcgaactg gacaacctgg aatgtggcga
     1801 catcctagac tagatgaatg tcagccacag gagcttcttc aaaacatagc accagcccca
     1861 gccaggagaa ggaagtgcac acgcctcacc cgcacctcta gagagttgct gggcatctct
     1921 caaccgcgat ccccaacacc attcttcccc cacccctgga aaaacttcca aaagtagaga
     1981 aaataaagga ctcatttcac atttccccta ctcataaaaa aaaaaaaaaa a
//
