WDR46_HUMAN
ID WDR46_HUMAN Reviewed; 610 AA.
AC O15213; A6NDP5; Q5HYZ0; Q5STK5; Q5STR3;
DT 27-MAR-2002, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 180.
DE RecName: Full=WD repeat-containing protein 46;
DE AltName: Full=WD repeat-containing protein BING4;
GN Name=WDR46; Synonyms=BING4, C6orf11; ORFNames=FP221;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-94.
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ALA-341.
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-94.
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-372, AND VARIANT ALA-94.
RX PubMed=9545376; DOI=10.1006/jmbi.1998.1637;
RA Herberg J.A., Beck S., Trowsdale J.;
RT "TAPASIN, DAXX, RGL2, HKE2 and four new genes (BING 1, 3 to 5) form a dense
RT cluster at the centromeric end of the MHC.";
RL J. Mol. Biol. 277:839-857(1998).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-41, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18220336; DOI=10.1021/pr0705441;
RA Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III;
RT "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient
RT phosphoproteomic analysis.";
RL J. Proteome Res. 7:1346-1351(2008).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-41, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH DDX21; NCL; NOP2 AND
RP EBNA1BP2.
RX PubMed=23848194; DOI=10.1111/gtc.12077;
RA Hirai Y., Louvet E., Oda T., Kumeta M., Watanabe Y., Horigome T.,
RA Takeyasu K.;
RT "Nucleolar scaffold protein, WDR46, determines the granular compartmental
RT localization of nucleolin and DDX21.";
RL Genes Cells 18:780-797(2013).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-41, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-41, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Scaffold component of the nucleolar structure. Required for
CC localization of DDX21 and NCL to the granular compartment of the
CC nucleolus. {ECO:0000269|PubMed:23848194}.
CC -!- SUBUNIT: Interacts with DDX21, NCL, NOP2 and EBNA1BP2.
CC {ECO:0000269|PubMed:23848194}.
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:23848194}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF447870; AAQ04645.1; -; mRNA.
DR EMBL; AL662820; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL662827; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL844527; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX000343; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z97184; CAB09994.2; -; Genomic_DNA.
DR EMBL; AL031228; CAB09994.2; JOINED; Genomic_DNA.
DR EMBL; BC000388; AAH00388.1; -; mRNA.
DR CCDS; CCDS4772.1; -.
DR RefSeq; NP_001157739.1; NM_001164267.1.
DR RefSeq; NP_005443.3; NM_005452.5.
DR PDB; 7MQ8; EM; 3.60 A; LW=1-610.
DR PDB; 7MQ9; EM; 3.87 A; LW=1-610.
DR PDB; 7MQA; EM; 2.70 A; LW=1-610.
DR PDBsum; 7MQ8; -.
DR PDBsum; 7MQ9; -.
DR PDBsum; 7MQA; -.
DR AlphaFoldDB; O15213; -.
DR SMR; O15213; -.
DR BioGRID; 114694; 162.
DR IntAct; O15213; 16.
DR MINT; O15213; -.
DR STRING; 9606.ENSP00000363746; -.
DR iPTMnet; O15213; -.
DR PhosphoSitePlus; O15213; -.
DR SwissPalm; O15213; -.
DR BioMuta; WDR46; -.
DR EPD; O15213; -.
DR jPOST; O15213; -.
DR MassIVE; O15213; -.
DR MaxQB; O15213; -.
DR PaxDb; O15213; -.
DR PeptideAtlas; O15213; -.
DR PRIDE; O15213; -.
DR ProteomicsDB; 48513; -.
DR Antibodypedia; 29045; 57 antibodies from 19 providers.
DR DNASU; 9277; -.
DR Ensembl; ENST00000374617.9; ENSP00000363746.4; ENSG00000227057.10.
DR Ensembl; ENST00000383208.8; ENSP00000372695.4; ENSG00000206284.8.
DR Ensembl; ENST00000432609.6; ENSP00000402869.2; ENSG00000236222.8.
DR Ensembl; ENST00000432933.6; ENSP00000399454.2; ENSG00000204221.11.
DR Ensembl; ENST00000457382.6; ENSP00000405614.2; ENSG00000226916.8.
DR GeneID; 9277; -.
DR KEGG; hsa:9277; -.
DR MANE-Select; ENST00000374617.9; ENSP00000363746.4; NM_005452.6; NP_005443.3.
DR UCSC; uc003ods.4; human.
DR CTD; 9277; -.
DR DisGeNET; 9277; -.
DR GeneCards; WDR46; -.
DR HGNC; HGNC:13923; WDR46.
DR HPA; ENSG00000227057; Low tissue specificity.
DR MIM; 611440; gene.
DR neXtProt; NX_O15213; -.
DR OpenTargets; ENSG00000227057; -.
DR PharmGKB; PA25924; -.
DR VEuPathDB; HostDB:ENSG00000227057; -.
DR eggNOG; KOG1272; Eukaryota.
DR GeneTree; ENSGT00390000007075; -.
DR HOGENOM; CLU_022996_2_0_1; -.
DR InParanoid; O15213; -.
DR OMA; KYTFIYD; -.
DR OrthoDB; 430457at2759; -.
DR PhylomeDB; O15213; -.
DR TreeFam; TF300861; -.
DR PathwayCommons; O15213; -.
DR Reactome; R-HSA-6790901; rRNA modification in the nucleus and cytosol.
DR Reactome; R-HSA-6791226; Major pathway of rRNA processing in the nucleolus and cytosol.
DR SignaLink; O15213; -.
DR BioGRID-ORCS; 9277; 566 hits in 1080 CRISPR screens.
DR ChiTaRS; WDR46; human.
DR GeneWiki; WDR46; -.
DR GenomeRNAi; 9277; -.
DR Pharos; O15213; Tbio.
DR PRO; PR:O15213; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; O15213; protein.
DR Bgee; ENSG00000227057; Expressed in granulocyte and 93 other tissues.
DR ExpressionAtlas; O15213; baseline and differential.
DR Genevisible; O15213; HS.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0032040; C:small-subunit processome; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0000462; P:maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); IBA:GO_Central.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR012952; BING4_C_dom.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR InterPro; IPR040315; WDR46/Utp7.
DR PANTHER; PTHR14085; PTHR14085; 1.
DR Pfam; PF08149; BING4CT; 1.
DR SMART; SM01033; BING4CT; 1.
DR SMART; SM00320; WD40; 4.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Nucleus; Phosphoprotein; Reference proteome; Repeat;
KW WD repeat.
FT CHAIN 1..610
FT /note="WD repeat-containing protein 46"
FT /id="PRO_0000051395"
FT REPEAT 193..234
FT /note="WD 1"
FT REPEAT 235..272
FT /note="WD 2"
FT REPEAT 274..312
FT /note="WD 3"
FT REPEAT 315..354
FT /note="WD 4"
FT REPEAT 357..396
FT /note="WD 5"
FT REPEAT 399..436
FT /note="WD 6"
FT REGION 1..103
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 538..610
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 7..31
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 567..597
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 41
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18220336,
FT ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163,
FT ECO:0007744|PubMed:24275569"
FT VARIANT 94
FT /note="T -> A (in dbSNP:rs3130257)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:15498874, ECO:0000269|PubMed:9545376"
FT /id="VAR_053433"
FT VARIANT 124
FT /note="S -> Y (in dbSNP:rs34704405)"
FT /id="VAR_053434"
FT VARIANT 341
FT /note="V -> A (in dbSNP:rs14398)"
FT /evidence="ECO:0000269|PubMed:14574404"
FT /id="VAR_022025"
SQ SEQUENCE 610 AA; 68071 MW; 0C11DA8ED92CA39E CRC64;
METAPKPGKD VPPKKDKLQT KRKKPRRYWE EETVPTTAGA SPGPPRNKKN RELRPQRPKN
AYILKKSRIS KKPQVPKKPR EWKNPESQRG LSGTQDPFPG PAPVPVEVVQ KFCRIDKSRK
LPHSKAKTRS RLEVAEAEEE ETSIKAARSE LLLAEEPGFL EGEDGEDTAK ICQADIVEAV
DIASAAKHFD LNLRQFGPYR LNYSRTGRHL AFGGRRGHVA ALDWVTKKLM CEINVMEAVR
DIRFLHSEAL LAVAQNRWLH IYDNQGIELH CIRRCDRVTR LEFLPFHFLL ATASETGFLT
YLDVSVGKIV AALNARAGRL DVMSQNPYNA VIHLGHSNGT VSLWSPAMKE PLAKILCHRG
GVRAVAVDST GTYMATSGLD HQLKIFDLRG TYQPLSTRTL PHGAGHLAFS QRGLLVAGMG
DVVNIWAGQG KASPPSLEQP YLTHRLSGPV HGLQFCPFED VLGVGHTGGI TSMLVPGAGE
PNFDGLESNP YRSRKQRQEW EVKALLEKVP AELICLDPRA LAEVDVISLE QGKKEQIERL
GYDPQAKAPF QPKPKQKGRS STASLVKRKR KVMDEEHRDK VRQSLQQQHH KEAKAKPTGA
RPSALDRFVR
