TPRKB_MOUSE
ID TPRKB_MOUSE Reviewed; 175 AA.
AC Q8QZZ7;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=EKC/KEOPS complex subunit Tprkb {ECO:0000305};
DE AltName: Full=PRPK-binding protein {ECO:0000250|UniProtKB:Q9Y3C4};
DE AltName: Full=TP53RK-binding protein {ECO:0000250|UniProtKB:Q9Y3C4};
GN Name=Tprkb {ECO:0000312|MGI:MGI:1917036};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=FVB/N; TISSUE=Eye, and Mammary tumor;
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 [2]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain, Brown adipose tissue, Heart, Kidney, Liver, Lung, Pancreas,
RC Spleen, and Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [3]
RP DISRUPTION PHENOTYPE.
RX PubMed=28805828; DOI=10.1038/ng.3933;
RA Braun D.A., Rao J., Mollet G., Schapiro D., Daugeron M.C., Tan W.,
RA Gribouval O., Boyer O., Revy P., Jobst-Schwan T., Schmidt J.M.,
RA Lawson J.A., Schanze D., Ashraf S., Ullmann J.F.P., Hoogstraten C.A.,
RA Boddaert N., Collinet B., Martin G., Liger D., Lovric S., Furlano M.,
RA Guerrera I.C., Sanchez-Ferras O., Hu J.F., Boschat A.C., Sanquer S.,
RA Menten B., Vergult S., De Rocker N., Airik M., Hermle T., Shril S.,
RA Widmeier E., Gee H.Y., Choi W.I., Sadowski C.E., Pabst W.L., Warejko J.K.,
RA Daga A., Basta T., Matejas V., Scharmann K., Kienast S.D., Behnam B.,
RA Beeson B., Begtrup A., Bruce M., Ch'ng G.S., Lin S.P., Chang J.H.,
RA Chen C.H., Cho M.T., Gaffney P.M., Gipson P.E., Hsu C.H., Kari J.A.,
RA Ke Y.Y., Kiraly-Borri C., Lai W.M., Lemyre E., Littlejohn R.O., Masri A.,
RA Moghtaderi M., Nakamura K., Ozaltin F., Praet M., Prasad C., Prytula A.,
RA Roeder E.R., Rump P., Schnur R.E., Shiihara T., Sinha M.D., Soliman N.A.,
RA Soulami K., Sweetser D.A., Tsai W.H., Tsai J.D., Topaloglu R., Vester U.,
RA Viskochil D.H., Vatanavicharn N., Waxler J.L., Wierenga K.J., Wolf M.T.F.,
RA Wong S.N., Leidel S.A., Truglio G., Dedon P.C., Poduri A., Mane S.,
RA Lifton R.P., Bouchard M., Kannu P., Chitayat D., Magen D., Callewaert B.,
RA van Tilbeurgh H., Zenker M., Antignac C., Hildebrandt F.;
RT "Mutations in KEOPS-complex genes cause nephrotic syndrome with primary
RT microcephaly.";
RL Nat. Genet. 49:1529-1538(2017).
CC -!- FUNCTION: Component of the EKC/KEOPS complex that is required for the
CC formation of a threonylcarbamoyl group on adenosine at position 37
CC (t(6)A37) in tRNAs that read codons beginning with adenine. The complex
CC is probably involved in the transfer of the threonylcarbamoyl moiety of
CC threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. TPRKB acts as an
CC allosteric effector that regulates the t(6)A activity of the complex.
CC TPRKB is not required for tRNA modification.
CC {ECO:0000250|UniProtKB:Q9Y3C4}.
CC -!- SUBUNIT: Component of the EKC/KEOPS complex composed of at least GON7,
CC TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes. Interacts
CC with TP53RK/PRPK. {ECO:0000250|UniProtKB:Q9Y3C4}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:Q9Y3C4}. Nucleus {ECO:0000250|UniProtKB:Q9Y3C4}.
CC -!- DISRUPTION PHENOTYPE: Mouse embryos display primary microcephaly
CC characterized by significantly shorter cortex lengths, cortex-midbrain
CC midline lengths and cortex widths. Mice do not show a renal phenotype.
CC {ECO:0000269|PubMed:28805828}.
CC -!- SIMILARITY: Belongs to the CGI121/TPRKB family. {ECO:0000305}.
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; BC024858; AAH24858.1; -; mRNA.
DR EMBL; BC027162; AAH27162.1; -; mRNA.
DR CCDS; CCDS20305.1; -.
DR RefSeq; NP_001163959.1; NM_001170488.1.
DR RefSeq; NP_789812.1; NM_176842.3.
DR RefSeq; XP_006506630.1; XM_006506567.3.
DR RefSeq; XP_006506631.1; XM_006506568.3.
DR RefSeq; XP_006506632.1; XM_006506569.3.
DR RefSeq; XP_017177221.1; XM_017321732.1.
DR AlphaFoldDB; Q8QZZ7; -.
DR SMR; Q8QZZ7; -.
DR BioGRID; 213679; 17.
DR STRING; 10090.ENSMUSP00000063927; -.
DR iPTMnet; Q8QZZ7; -.
DR PhosphoSitePlus; Q8QZZ7; -.
DR SwissPalm; Q8QZZ7; -.
DR EPD; Q8QZZ7; -.
DR MaxQB; Q8QZZ7; -.
DR PaxDb; Q8QZZ7; -.
DR PeptideAtlas; Q8QZZ7; -.
DR PRIDE; Q8QZZ7; -.
DR ProteomicsDB; 259505; -.
DR Antibodypedia; 31361; 233 antibodies from 25 providers.
DR DNASU; 69786; -.
DR Ensembl; ENSMUST00000067137; ENSMUSP00000063927; ENSMUSG00000054226.
DR Ensembl; ENSMUST00000113752; ENSMUSP00000109381; ENSMUSG00000054226.
DR Ensembl; ENSMUST00000113753; ENSMUSP00000109382; ENSMUSG00000054226.
DR Ensembl; ENSMUST00000200680; ENSMUSP00000144160; ENSMUSG00000054226.
DR GeneID; 69786; -.
DR KEGG; mmu:69786; -.
DR UCSC; uc009cqm.2; mouse.
DR CTD; 51002; -.
DR MGI; MGI:1917036; Tprkb.
DR VEuPathDB; HostDB:ENSMUSG00000054226; -.
DR eggNOG; KOG4066; Eukaryota.
DR GeneTree; ENSGT00390000012942; -.
DR InParanoid; Q8QZZ7; -.
DR OMA; HNVHSEI; -.
DR OrthoDB; 1360669at2759; -.
DR PhylomeDB; Q8QZZ7; -.
DR TreeFam; TF315098; -.
DR BioGRID-ORCS; 69786; 27 hits in 73 CRISPR screens.
DR ChiTaRS; Tprkb; mouse.
DR PRO; PR:Q8QZZ7; -.
DR Proteomes; UP000000589; Chromosome 6.
DR RNAct; Q8QZZ7; protein.
DR Bgee; ENSMUSG00000054226; Expressed in right kidney and 253 other tissues.
DR ExpressionAtlas; Q8QZZ7; baseline and differential.
DR Genevisible; Q8QZZ7; MM.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0000408; C:EKC/KEOPS complex; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0019901; F:protein kinase binding; ISO:MGI.
DR GO; GO:0000722; P:telomere maintenance via recombination; IBA:GO_Central.
DR GO; GO:0002949; P:tRNA threonylcarbamoyladenosine modification; ISS:UniProtKB.
DR Gene3D; 3.30.2380.10; -; 1.
DR InterPro; IPR013926; CGI121/TPRKB.
DR InterPro; IPR036504; CGI121/TPRKB_sf.
DR PANTHER; PTHR15840; PTHR15840; 1.
DR Pfam; PF08617; CGI-121; 1.
DR SUPFAM; SSF143870; SSF143870; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Nucleus; Reference proteome; tRNA processing.
FT CHAIN 1..175
FT /note="EKC/KEOPS complex subunit Tprkb"
FT /id="PRO_0000279221"
SQ SEQUENCE 175 AA; 19556 MW; 6551EC1A2F944194 CRC64;
MQLSQQLDLF PECRVTLLLF KDVKNAGDLR KKAMEGSIDG SLINPNVIVD PFQILVAANK
AVHLHRLGKM KTRTLSTEII FNLSPNNNIS EALKKFGISE TNTSVLIVYI EDGSKQVPQE
HLVSQVEGQQ VPLESLPEIT RLSEVKKIYK LSSQEERIGT LLDAIICRMS TKDVL
