TBL3_HUMAN
ID TBL3_HUMAN Reviewed; 808 AA.
AC Q12788; Q59GD6; Q8IVB7; Q96A78;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 10-FEB-2009, sequence version 2.
DT 03-AUG-2022, entry version 192.
DE RecName: Full=Transducin beta-like protein 3;
DE AltName: Full=WD repeat-containing protein SAZD;
GN Name=TBL3; Synonyms=SAZD;
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 [MRNA].
RX PubMed=8307582; DOI=10.1016/s0888-7543(05)80380-5;
RA Weinstat-Saslow D.L., Germino G.G., Somlo S., Reeders S.T.;
RT "A transducin-like gene maps to the autosomal dominant polycystic kidney
RT disease gene region.";
RL Genomics 18:709-711(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ARG-293 AND PRO-457.
RC TISSUE=Brain;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA Ohara O., Nagase T., Kikuno R.F.;
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, Cervix, and 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 [6]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=12429849; DOI=10.1091/mbc.e02-05-0271;
RA Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C.,
RA Greco A., Hochstrasser D.F., Diaz J.-J.;
RT "Functional proteomic analysis of human nucleolus.";
RL Mol. Biol. Cell 13:4100-4109(2002).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-257, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and 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 SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-407, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- INTERACTION:
CC Q12788; Q92624: APPBP2; NbExp=4; IntAct=EBI-715766, EBI-743771;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAA18945.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAD92410.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; U02609; AAA18945.1; ALT_FRAME; mRNA.
DR EMBL; AB209173; BAD92410.1; ALT_INIT; mRNA.
DR EMBL; AC005363; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC005606; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471112; EAW85589.1; -; Genomic_DNA.
DR EMBL; BC010231; AAH10231.1; -; mRNA.
DR EMBL; BC014007; AAH14007.1; -; mRNA.
DR EMBL; BC035409; AAH35409.1; -; mRNA.
DR CCDS; CCDS10453.1; -.
DR PIR; A49367; A49367.
DR RefSeq; NP_006444.2; NM_006453.2.
DR PDB; 7MQ8; EM; 3.60 A; LR=1-808.
DR PDB; 7MQ9; EM; 3.87 A; LR=1-808.
DR PDB; 7MQA; EM; 2.70 A; LR=1-808.
DR PDBsum; 7MQ8; -.
DR PDBsum; 7MQ9; -.
DR PDBsum; 7MQA; -.
DR AlphaFoldDB; Q12788; -.
DR SMR; Q12788; -.
DR BioGRID; 115853; 182.
DR CORUM; Q12788; -.
DR IntAct; Q12788; 45.
DR MINT; Q12788; -.
DR STRING; 9606.ENSP00000454836; -.
DR GlyGen; Q12788; 2 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; Q12788; -.
DR PhosphoSitePlus; Q12788; -.
DR SwissPalm; Q12788; -.
DR BioMuta; TBL3; -.
DR DMDM; 223634675; -.
DR SWISS-2DPAGE; Q12788; -.
DR EPD; Q12788; -.
DR jPOST; Q12788; -.
DR MassIVE; Q12788; -.
DR MaxQB; Q12788; -.
DR PaxDb; Q12788; -.
DR PeptideAtlas; Q12788; -.
DR PRIDE; Q12788; -.
DR ProteomicsDB; 58923; -.
DR Antibodypedia; 23366; 75 antibodies from 17 providers.
DR DNASU; 10607; -.
DR Ensembl; ENST00000568546.6; ENSP00000454836.1; ENSG00000183751.16.
DR GeneID; 10607; -.
DR KEGG; hsa:10607; -.
DR MANE-Select; ENST00000568546.6; ENSP00000454836.1; NM_006453.3; NP_006444.2.
DR UCSC; uc002cnu.2; human.
DR CTD; 10607; -.
DR GeneCards; TBL3; -.
DR HGNC; HGNC:11587; TBL3.
DR HPA; ENSG00000183751; Low tissue specificity.
DR MIM; 605915; gene.
DR neXtProt; NX_Q12788; -.
DR OpenTargets; ENSG00000183751; -.
DR PharmGKB; PA36351; -.
DR VEuPathDB; HostDB:ENSG00000183751; -.
DR eggNOG; KOG0319; Eukaryota.
DR GeneTree; ENSGT00940000157651; -.
DR InParanoid; Q12788; -.
DR OMA; PYVQRHF; -.
DR OrthoDB; 1112002at2759; -.
DR PhylomeDB; Q12788; -.
DR TreeFam; TF314872; -.
DR PathwayCommons; Q12788; -.
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; Q12788; -.
DR BioGRID-ORCS; 10607; 708 hits in 1083 CRISPR screens.
DR ChiTaRS; TBL3; human.
DR GeneWiki; TBL3; -.
DR GenomeRNAi; 10607; -.
DR Pharos; Q12788; Tdark.
DR PRO; PR:Q12788; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q12788; protein.
DR Bgee; ENSG00000183751; Expressed in right testis and 168 other tissues.
DR ExpressionAtlas; Q12788; baseline and differential.
DR Genevisible; Q12788; HS.
DR GO; GO:0030686; C:90S preribosome; IBA:GO_Central.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0032040; C:small-subunit processome; IEA:InterPro.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0034511; F:U3 snoRNA binding; IBA:GO_Central.
DR GO; GO:0000480; P:endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); IBA:GO_Central.
DR GO; GO:0000472; P:endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA); IBA:GO_Central.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
DR InterPro; IPR011044; Quino_amine_DH_bsu.
DR InterPro; IPR013934; SSU_processome_Utp13.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF08625; Utp13; 1.
DR Pfam; PF00400; WD40; 8.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 13.
DR SUPFAM; SSF50969; SSF50969; 1.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 2.
DR PROSITE; PS50082; WD_REPEATS_2; 8.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Isopeptide bond; Nucleus; Phosphoprotein;
KW Reference proteome; Repeat; Ubl conjugation; WD repeat.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:22814378"
FT CHAIN 2..808
FT /note="Transducin beta-like protein 3"
FT /id="PRO_0000051272"
FT REPEAT 64..105
FT /note="WD 1"
FT REPEAT 107..146
FT /note="WD 2"
FT REPEAT 149..190
FT /note="WD 3"
FT REPEAT 193..232
FT /note="WD 4"
FT REPEAT 245..284
FT /note="WD 5"
FT REPEAT 290..329
FT /note="WD 6"
FT REPEAT 332..372
FT /note="WD 7"
FT REPEAT 374..413
FT /note="WD 8"
FT REPEAT 419..459
FT /note="WD 9"
FT REPEAT 477..516
FT /note="WD 10"
FT REPEAT 519..560
FT /note="WD 11"
FT REPEAT 562..602
FT /note="WD 12"
FT REPEAT 604..642
FT /note="WD 13"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT MOD_RES 257
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CROSSLNK 407
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VARIANT 293
FT /note="Q -> R (in dbSNP:rs2230086)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_054320"
FT VARIANT 294
FT /note="E -> Q (in dbSNP:rs8052713)"
FT /id="VAR_054321"
FT VARIANT 457
FT /note="S -> P (in dbSNP:rs17605)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_014479"
FT CONFLICT 104
FT /note="W -> S (in Ref. 5; AAH35409)"
FT /evidence="ECO:0000305"
FT CONFLICT 472
FT /note="Q -> H (in Ref. 1; AAA18945)"
FT /evidence="ECO:0000305"
FT CONFLICT 566
FT /note="V -> L (in Ref. 1; AAA18945)"
FT /evidence="ECO:0000305"
FT CONFLICT 639..640
FT /note="EQ -> DE (in Ref. 1; AAA18945)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 808 AA; 89035 MW; 01BDF217F8D17D30 CRC64;
MAETAAGVGR FKTNYAVERK IEPFYKGGKA QLDQTGQHLF CVCGTRVNIL EVASGAVLRS
LEQEDQEDIT AFDLSPDNEV LVTASRALLL AQWAWQEGSV TRLWKAIHTA PVATMAFDPT
STLLATGGCD GAVRVWDIVR HYGTHHFRGS PGVVHLVAFH PDPTRLLLFS SATDAAIRVW
SLQDRSCLAV LTAHYSAVTS LAFSADGHTM LSSGRDKICI IWDLQSCQAT RTVPVFESVE
AAVLLPEEPV SQLGVKSPGL YFLTAGDQGT LRVWEAASGQ CVYTQAQPPG PGQELTHCTL
AHTAGVVLTA TADHNLLLYE ARSLRLQKQF AGYSEEVLDV RFLGPEDSHV VVASNSPCLK
VFELQTSACQ ILHGHTDIVL ALDVFRKGWL FASCAKDQSV RIWRMNKAGQ VMCVAQGSGH
THSVGTVCCS RLKESFLVTG SQDCTVKLWP LPKALLSKNT APDNGPILLQ AQTTQRCHDK
DINSVAIAPN DKLLATGSQD RTAKLWALPQ CQLLGVFSGH RRGLWCVQFS PMDQVLATAS
ADGTIKLWAL QDFSCLKTFE GHDASVLKVA FVSRGTQLLS SGSDGLVKLW TIKNNECVRT
LDAHEDKVWG LHCSRLDDHA LTGASDSRVI LWKDVTEAEQ AEEQARQEEQ VVRQQELDNL
LHEKRYLRAL GLAISLDRPH TVLTVIQAIR RDPEACEKLE ATMLRLRRDQ KEALLRFCVT
WNTNSRHCHE AQAVLGVLLR REAPEELLAY EGVRAALEAL LPYTERHFQR LSRTLQAAAF
LDFLWHNMKL PVPAAAPTPW ETHKGALP
