LOCUS       NM_005452               2070 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1,
            mRNA.
ACCESSION   NM_005452
VERSION     NM_005452.6
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 2070)
  AUTHORS   Singh,S., Vanden Broeck,A., Miller,L., Chaker-Margot,M. and
            Klinge,S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   2  (bases 1 to 2070)
  AUTHORS   Wada,K., Sato,M., Araki,N., Kumeta,M., Hirai,Y., Takeyasu,K.,
            Furukawa,K. and Horigome,T.
  TITLE     Dynamics of WD-repeat containing proteins in SSU processome
            components
  JOURNAL   Biochem Cell Biol 92 (3), 191-199 (2014)
   PUBMED   24754225
REFERENCE   3  (bases 1 to 2070)
  AUTHORS   Hasson,S.A., Kane,L.A., Yamano,K., Huang,C.H., Sliter,D.A.,
            Buehler,E., Wang,C., Heman-Ackah,S.M., Hessa,T., Guha,R.,
            Martin,S.E. and Youle,R.J.
  TITLE     High-content genome-wide RNAi screens identify regulators of parkin
            upstream of mitophagy
  JOURNAL   Nature 504 (7479), 291-295 (2013)
   PUBMED   24270810
REFERENCE   4  (bases 1 to 2070)
  AUTHORS   Hirai,Y., Louvet,E., Oda,T., Kumeta,M., Watanabe,Y., Horigome,T.
            and Takeyasu,K.
  TITLE     Nucleolar scaffold protein, WDR46, determines the granular
            compartmental localization of nucleolin and DDX21
  JOURNAL   Genes Cells 18 (9), 780-797 (2013)
   PUBMED   23848194
  REMARK    GeneRIF: When WDR46 was knocked down, nucleolin and DDX21 were
            mislocalized from the granular component to the edges of the
            nucleoli.
REFERENCE   5  (bases 1 to 2070)
  AUTHORS   Pasaje,C.F., Bae,J.S., Park,B.L., Cheong,H.S., Kim,J.H., Uh,S.T.,
            Park,C.S. and Shin,H.D.
  TITLE     WDR46 is a Genetic Risk Factor for Aspirin-Exacerbated Respiratory
            Disease in a Korean Population
  JOURNAL   Allergy Asthma Immunol Res 4 (4), 199-205 (2012)
   PUBMED   22754713
REFERENCE   6  (bases 1 to 2070)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   7  (bases 1 to 2070)
  AUTHORS   Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A.,
            Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A.,
            Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G.,
            Harley,J.B., Gaffney,P.M. and Criswell,L.A.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2070)
  AUTHORS   Nousiainen,M., Sillje,H.H., Sauer,G., Nigg,E.A. and Korner,R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
REFERENCE   9  (bases 1 to 2070)
  AUTHORS   Andersen,J.S., Lyon,C.E., Fox,A.H., Leung,A.K., Lam,Y.W., Steen,H.,
            Mann,M. and Lamond,A.I.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
REFERENCE   10 (bases 1 to 2070)
  AUTHORS   Herberg,J.A., Beck,S. and Trowsdale,J.
  TITLE     TAPASIN, DAXX, RGL2, HKE2 and four new genes (BING 1, 3 to 5) form
            a dense cluster at the centromeric end of the MHC
  JOURNAL   J Mol Biol 277 (4), 839-857 (1998)
   PUBMED   9545376
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK292171.1, DB272479.1 and BC000388.2.
            
            On Nov 22, 2018 this sequence version replaced NM_005452.5.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: BC000388.2, AF447870.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374617.9/ ENSP00000363746.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AK292171.1         272-272
            2-557               DB272479.1         1-556
            558-2070            BC000388.2         533-2045
FEATURES             Location/Qualifiers
     source          1..2070
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..2070
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /note="WD repeat domain 46"
                     /db_xref="GeneID:9277"
                     /db_xref="HGNC:HGNC:13923"
                     /db_xref="MIM:611440"
     exon            1..138
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..1902
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /note="isoform 1 is encoded by transcript variant 1; WD
                     repeat-containing protein 46; WD repeat-containing protein
                     BING4"
                     /codon_start=1
                     /product="WD repeat-containing protein 46 isoform 1"
                     /protein_id="NP_005443.3"
                     /db_xref="CCDS:CCDS4772.1"
                     /db_xref="GeneID:9277"
                     /db_xref="HGNC:HGNC:13923"
                     /db_xref="MIM:611440"
                     /translation="METAPKPGKDVPPKKDKLQTKRKKPRRYWEEETVPTTAGASPGP
                     PRNKKNRELRPQRPKNAYILKKSRISKKPQVPKKPREWKNPESQRGLSGTQDPFPGPA
                     PVPVEVVQKFCRIDKSRKLPHSKAKTRSRLEVAEAEEEETSIKAARSELLLAEEPGFL
                     EGEDGEDTAKICQADIVEAVDIASAAKHFDLNLRQFGPYRLNYSRTGRHLAFGGRRGH
                     VAALDWVTKKLMCEINVMEAVRDIRFLHSEALLAVAQNRWLHIYDNQGIELHCIRRCD
                     RVTRLEFLPFHFLLATASETGFLTYLDVSVGKIVAALNARAGRLDVMSQNPYNAVIHL
                     GHSNGTVSLWSPAMKEPLAKILCHRGGVRAVAVDSTGTYMATSGLDHQLKIFDLRGTY
                     QPLSTRTLPHGAGHLAFSQRGLLVAGMGDVVNIWAGQGKASPPSLEQPYLTHRLSGPV
                     HGLQFCPFEDVLGVGHTGGITSMLVPGAGEPNFDGLESNPYRSRKQRQEWEVKALLEK
                     VPAELICLDPRALAEVDVISLEQGKKEQIERLGYDPQAKAPFQPKPKQKGRSSTASLV
                     KRKRKVMDEEHRDKVRQSLQQQHHKEAKAKPTGARPSALDRFVR"
     exon            139..348
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            349..429
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            430..542
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            543..630
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            631..692
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            693..797
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            798..948
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1084
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1184
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1498
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1499..1593
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1594..1689
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1690..1803
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     exon            1804..2070
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2045..2050
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /note="hexamer: ATTAAA"
     polyA_site      2070
                     /gene="WDR46"
                     /gene_synonym="BING4; C6orf11; FP221; UTP7"
                     /note="major polyA site"
ORIGIN      
        1 gagttttcaa gccgactgtg tggcagctga gaggagtttt gcacgtggat cgccgttcgg
       61 gtgggcgaga tggagacagc ccccaagccg ggcaaggatg tcccgcccaa gaaagacaaa
      121 cttcagacca agagaaagaa accgcggcga tactgggagg aagagaccgt tccgaccaca
      181 gccggagcct ctccagggcc tcctcgtaac aagaagaatc gggagctccg tcctcagaga
      241 ccaaaaaatg cttacatctt aaagaagtct cggatctcta agaagcctca ggtcccgaag
      301 aaaccccgag aatggaagaa cccggagtcc cagcgcggct tgtccgggac ccaagatcca
      361 ttcccaggcc ccgcccccgt ccctgtggaa gtggtccaga agttctgtcg cattgacaaa
      421 tcccgaaagc taccacattc taaagccaaa actcgaagcc gacttgaggt ggctgaagct
      481 gaggaagagg aaacaagtat caaagctgct cgttctgagc tgctgcttgc tgaagaacct
      541 gggtttctgg aaggggagga tggggaagac acagcaaaga tatgccaggc tgacattgtg
      601 gaggctgtgg acattgcaag tgcagccaag cactttgact tgaatctgcg gcagtttgga
      661 ccctacagac taaactactc tcgaactgga agacacctgg cttttggagg gcgccgaggt
      721 catgtggctg cccttgattg ggtaacaaag aagcttatgt gcgagatcaa cgtcatggag
      781 gcggtgcggg acatccggtt tctccattct gaggcactgc ttgctgttgc tcagaaccgc
      841 tggctccaca tctatgacaa tcagggcatt gagctccact gtatccgccg ctgtgaccga
      901 gtaacacggc ttgagttcct gcccttccac ttcctcctgg ctacagcttc agaaacaggg
      961 tttctaacct acctggatgt gtcagtgggg aagattgtgg cagctctgaa tgctcgagct
     1021 gggcggctcg atgttatgag tcagaaccct tacaatgccg tcatccatct cggacacagc
     1081 aatggtactg tgtctttatg gagtccagct atgaaggagc cactggcaaa gattctctgt
     1141 catcgtggtg gggtccgggc tgtggcagta gattctacag gcacgtacat ggccacctct
     1201 ggcctagacc accagctgaa gatctttgac ttgcgaggga cgtaccagcc tctgagcact
     1261 cggaccctgc cccatggagc agggcacctg gccttctccc agaggggact gctggtggcg
     1321 ggaatgggtg acgttgtcaa catctgggca gggcagggca aggccagccc accctccctt
     1381 gaacagccct acctcaccca ccggctctca ggccctgtgc atggccttca gttctgcccc
     1441 tttgaagatg tgctgggggt ggggcacact gggggcatca ccagcatgct ggtccctggg
     1501 gccggtgagc ccaacttcga tggcctggag agtaatccat acagaagccg gaagcagcgc
     1561 caggagtggg aggtgaaggc cctgctagag aaggtacctg cagagcttat ttgtctggac
     1621 ccacgagccc tggccgaggt ggatgtcatc tccctggagc agggaaagaa ggagcagata
     1681 gagaggctgg gctatgaccc gcaggctaag gctcccttcc agccaaagcc aaagcagaag
     1741 ggccgcagct ccacggcaag cctggtgaag aggaagagga aggtcatgga tgaggaacac
     1801 agggacaagg tccggcagag ccttcagcag cagcatcata aggaggcgaa ggccaagccc
     1861 acgggggccc ggccatctgc cctggacaga tttgtgcgct gagccagact ccagggttgc
     1921 ctgggaacag tctctcccca agatcacctg tagggaaatg agtgttccct ggaacaagga
     1981 ggtgggggca gtgtggcccc ttccccaact gggggtggac agctgtctcc tggggtgggt
     2041 tggtattaaa gaggaaagcg attttttgga
//
