LOCUS       NM_198075               2765 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.
ACCESSION   NM_198075 XM_352003
VERSION     NM_198075.4
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 2765)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2765)
  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   3  (bases 1 to 2765)
  AUTHORS   Bonnefoy,S., Watson,C.M., Kernohan,K.D., Lemos,M., Hutchinson,S.,
            Poulter,J.A., Crinnion,L.A., Berry,I., Simmonds,J., Vasudevan,P.,
            O'Callaghan,C., Hirst,R.A., Rutman,A., Huang,L., Hartley,T.,
            Grynspan,D., Moya,E., Li,C., Carr,I.M., Bonthron,D.T., Leroux,M.,
            Boycott,K.M., Bastin,P. and Sheridan,E.G.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     Biallelic Mutations in LRRC56, Encoding a Protein Associated with
            Intraflagellar Transport, Cause Mucociliary Clearance and
            Laterality Defects
  JOURNAL   Am J Hum Genet 103 (5), 727-739 (2018)
   PUBMED   30388400
REFERENCE   4  (bases 1 to 2765)
  AUTHORS   Desai,P.B., Freshour,J.R. and Mitchell,D.R.
  TITLE     Chlamydomonas axonemal dynein assembly locus ODA8 encodes a
            conserved flagellar protein needed for cytoplasmic maturation of
            outer dynein arm complexes
  JOURNAL   Cytoskeleton (Hoboken) 72 (1), 16-28 (2015)
   PUBMED   25558044
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC035936.1, AC137894.5 and AP006284.2.
            
            On Nov 22, 2018 this sequence version replaced NM_198075.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The extent of this RefSeq
            transcript is supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035936.1, BC035937.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000270115.8/ ENSP00000270115.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-289               BC035936.1         1-289
            290-300             AC137894.5         160496-160506
            301-408             BC035936.1         290-397
            409-411             AC137894.5         161334-161336
            412-1454            BC035936.1         401-1443
            1455-1455           AP006284.2         10526-10526
            1456-2064           BC035936.1         1444-2052
            2065-2543           AP006284.2         12929-13407
            2544-2765           BC035936.1         2530-2751
FEATURES             Location/Qualifiers
     source          1..2765
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..2765
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /note="leucine rich repeat containing 56"
                     /db_xref="GeneID:115399"
                     /db_xref="HGNC:HGNC:25430"
                     /db_xref="MIM:618227"
     exon            1..79
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            80..342
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            343..489
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            490..677
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     CDS             501..2129
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /note="dynein axonemal assembly factor 12"
                     /codon_start=1
                     /product="leucine-rich repeat-containing protein 56"
                     /protein_id="NP_932341.1"
                     /db_xref="CCDS:CCDS7700.1"
                     /db_xref="GeneID:115399"
                     /db_xref="HGNC:HGNC:25430"
                     /db_xref="MIM:618227"
                     /translation="MDLGWDRSRGPRRSTSSVRVRELSWQGLHNPCPQSKGPGSQRDR
                     LGEQLVEEYLSPARLQALARVDDLRLVRTLEMCVDTREGSLGNFGVHLPNLDQLKLNG
                     SHLGSLRDLGTSLGHLQVLWLARCGLADLDGIASLPALKELYASYNNISDLSPLCLLE
                     QLEVLDLEGNSVEDLGQVRYLQLCPRLAMLTLEGNLVCLQPAPGPTNKVPRGYNYRAE
                     VRKLIPQLQVLDEVPAAHTGPPAPPRLSQDWLAVKEAIKKGNGLPPLDCPRGAPIRRL
                     DPELSLPETQSRASRPWPFSLLVRGGPLPEGLLSEDLAPEDNTSSLTHGAGQVLCGNP
                     TKGLRERRHQCQAREPPEQLPQHRPGDPAASTSTPEPDPADSSDFLALAGLRAWREHG
                     VRPLPYRHPESQQEGAVAPWGPRRVPEEQVHQAEPKTPSSPPSLASEPSGTSSQHLVP
                     SPPKHPRPRDSGSSSPRWSTDLQSRGRRLRVLGSWGPGLGDGVAAVPVLRALEVASRL
                     SPRAQGCPGPKPAPDAAARPPRAAELSHPSPVPT"
     exon            678..765
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            766..826
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            827..923
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1124
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1296
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1473
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..1538
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            1539..1681
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            1682..1815
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     exon            1816..2765
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2748..2753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /note="hexamer: AATAAA"
     polyA_site      2765
                     /gene="LRRC56"
                     /gene_synonym="CILD39; DNAAF12; oda8"
                     /note="major polyA site"
ORIGIN      
        1 ggagtaggag acagcgcctg gaggtggagg gcgcccaggg ccgagctgcc agggccggac
       61 acctaggctg agccctcagc cggccaactc gcctggcaca ggggcagctc tagacgggat
      121 ggagaggatg catcttcagt gtccacacgt ggtcaacaga taaaagccat ggccagaacg
      181 ttctaagtgg ctacatgtgc atctgcctgt tcacggattc cttcgacaaa tatttgagca
      241 tcccctcctg cgactgtgga cagcagagga gcacgcaggc cacgtgcagg ccacgtgcag
      301 cccacagctc tggggcgagg caggccctca accgaacacg tatagagaca gggtttcacc
      361 gtgttagcca ggatggtctc aatctcctga cctcgtgatc tgcccgccgc ggcctcccaa
      421 agtgctggga ttacaggcgt gagccactgc gccccgccag acgtctgcat ctttaagggg
      481 caacaccagg tgacatgtga atggatctgg gctgggacag atcccgtggg cctcggcgga
      541 gcacctccag cgtccgggtg cgggagctga gctggcaagg cctgcacaac ccctgcccac
      601 agagcaaggg ccctggcagt cagagggaca gacttggaga gcagctggtg gaagagtacc
      661 tgtcccctgc ccggctgcag gccctggccc gggtggatga ccttcggctg gtgaggacgc
      721 tggagatgtg tgtggacact cgtgagggca gcctggggaa ctttggggtg cacctgccca
      781 acctggacca actgaagctg aacggcagcc acctgggctc cctgagggac ttgggcacgt
      841 ctctgggcca cctgcaggtg ctgtggctgg ctcgctgtgg cctcgctgac ctggatggca
      901 tcgcctcttt gccagcactt aaggaactct acgcctccta caacaacatc tcggacctga
      961 gcccactgtg cctgctggaa caattggagg tgctggacct ggagggcaac agcgtggagg
     1021 acctggggca ggtgcgctac ttgcagctgt gcccacgcct ggccatgctc accctggagg
     1081 gcaacctggt gtgcctacag ccggcccctg gccccaccaa caaggtgccc aggggctaca
     1141 actacagggc agaggtgagg aagctcattc cccagctgca ggtcctggac gaagtgccgg
     1201 ccgcacacac aggcccaccg gcccccccgc ggctgagcca ggactggctt gcggtgaagg
     1261 aggccatcaa gaagggcaac ggccttcccc cgctggactg tccccgtgga gcccccatcc
     1321 ggagacttga ccccgagctg tccctgcctg agacgcagtc ccgggcctcc aggccctggc
     1381 ccttctccct gctggtccgt gggggccccc tgcctgaagg cctgctttct gaggacctgg
     1441 ccccagaaga taacaccagc agcctcaccc atggtgctgg ccaagtcctc tgtgggaacc
     1501 ccaccaaggg cctgcgggag cgtaggcacc agtgccaggc cagggagccc cccgagcagc
     1561 tgccccaaca caggccagga gatccggccg ccagcacttc caccccagag cctgaccctg
     1621 cagacagctc tgacttcctg gccttggctg ggctcagggc ctggagggaa catggcgtgc
     1681 gccccctccc ctataggcac ccggagtccc aacaggaagg ggctgtagcc ccctggggcc
     1741 cacggagggt ccctgaagag caagtgcacc aggcagagcc caagactccc tccagccccc
     1801 caagcctggc ctcagagccc tccgggacct cgagccagca cctggtccct tcacctccca
     1861 agcacccaag gccacgagat tctggcagca gctccccgcg gtggtcgaca gacctgcagt
     1921 ccagggggcg tcggctccga gtcctgggca gctgggggcc tggcctgggt gatggggtgg
     1981 ctgcagtgcc tgtcctgaga gccctggagg tggcctcacg cctgagccct cgagcccagg
     2041 gatgtcctgg cccaaagcca gcaccagatg cagcagctag acctcccagg gcagctgaac
     2101 tctctcaccc cagccccgtc cccacttaat atagccccca ctgccaggct tccctgtgct
     2161 ggggccacga cttgcccaca tatgtggtca cagagcacag aatacctggg cgggtgtgtt
     2221 ggggggtgga aggagtgcct ggccctgggg aggaccctct tggtggaggg gagtggggga
     2281 ctgggaccag ccagggaggc agcagaggct ggaacccagt ttaggccccc aactgggttt
     2341 ggcctgggga gggagggtcc ggctccccag cccttcctta gggccaggct ttcccgcggg
     2401 cacgggggtg gggggtggtc acccgagcag gcctgtgaga ggcctctcct gctagaattg
     2461 ggcatggccg aggggcaggg gctggagctg cgagtccacc actcccttgc cggccccagg
     2521 gtaagagcca cctcctaggc cgcagtggcc caaggtccca gctgctcgcc tgaggccgcc
     2581 gggggtgcgg tccaggcctc ccgtctccgg gggatctgta gggttcccgc actgcgatag
     2641 ggcggcccgt tccctcctct tggcgcagga cgccccggaa cccaaaccaa catttccagc
     2701 tctcaggtgt acagaaatgc ggtttacttt gtaggccacg ttggttcaat aaatgatgca
     2761 gcgga
//
