TPRKB_DANRE
ID TPRKB_DANRE Reviewed; 175 AA.
AC F1QZ15; Q5U3M9;
DT 25-APR-2018, integrated into UniProtKB/Swiss-Prot.
DT 03-MAY-2011, sequence version 1.
DT 03-AUG-2022, entry version 52.
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|ZFIN:ZDB-GENE-041114-68};
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Larva;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP DISRUPTION PHENOTYPE.
RX PubMed=29346415; DOI=10.1371/journal.pone.0191503;
RA Jobst-Schwan T., Schmidt J.M., Schneider R., Hoogstraten C.A.,
RA Ullmann J.F.P., Schapiro D., Majmundar A.J., Kolb A., Eddy K., Shril S.,
RA Braun D.A., Poduri A., Hildebrandt F.;
RT "Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the
RT microcephaly phenotype of the stable knockout zebrafish model.";
RL PLoS ONE 13:E0191503-E0191503(2018).
RN [4]
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 {ECO:0000250|UniProtKB:Q9Y3C4}.
CC -!- SUBUNIT: Component of the EKC/KEOPS complex.
CC {ECO:0000250|UniProtKB:Q9Y3C4}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:Q9Y3C4}. Nucleus {ECO:0000250|UniProtKB:Q9Y3C4}.
CC -!- DISRUPTION PHENOTYPE: Embryos display primary microcephaly, leading to
CC early lethality (PubMed:29346415, PubMed:28805828). Marked apoptosis is
CC observed in the brain (telencephalon) (PubMed:28805828). Fishes do not
CC show a renal phenotype, possibly as a result of early lethality
CC (PubMed:28805828). {ECO:0000269|PubMed:28805828,
CC ECO:0000269|PubMed:29346415}.
CC -!- SIMILARITY: Belongs to the CGI121/TPRKB family. {ECO:0000305}.
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DR EMBL; CU855579; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC085466; AAH85466.1; -; mRNA.
DR RefSeq; NP_001007374.1; NM_001007373.1.
DR AlphaFoldDB; F1QZ15; -.
DR SMR; F1QZ15; -.
DR STRING; 7955.ENSDARP00000056131; -.
DR PaxDb; F1QZ15; -.
DR Ensembl; ENSDART00000056132; ENSDARP00000056131; ENSDARG00000014941.
DR GeneID; 492501; -.
DR KEGG; dre:492501; -.
DR CTD; 51002; -.
DR ZFIN; ZDB-GENE-041114-68; tprkb.
DR eggNOG; KOG4066; Eukaryota.
DR GeneTree; ENSGT00390000012942; -.
DR HOGENOM; CLU_065847_2_0_1; -.
DR InParanoid; F1QZ15; -.
DR OMA; HNVHSEI; -.
DR OrthoDB; 1360669at2759; -.
DR PhylomeDB; F1QZ15; -.
DR TreeFam; TF315098; -.
DR PRO; PR:F1QZ15; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 4.
DR Bgee; ENSDARG00000014941; Expressed in testis and 20 other tissues.
DR ExpressionAtlas; F1QZ15; baseline.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0000408; C:EKC/KEOPS complex; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
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 2: Evidence at transcript level;
KW Cytoplasm; Nucleus; Reference proteome; tRNA processing.
FT CHAIN 1..175
FT /note="EKC/KEOPS complex subunit TPRKB"
FT /id="PRO_0000444044"
FT CONFLICT 11
FT /note="H -> P (in Ref. 2; AAH85466)"
FT /evidence="ECO:0000305"
FT CONFLICT 68
FT /note="G -> R (in Ref. 2; AAH85466)"
FT /evidence="ECO:0000305"
FT CONFLICT 134
FT /note="G -> F (in Ref. 2; AAH85466)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 175 AA; 19597 MW; C19FC274D5F8EAC3 CRC64;
MYLTQDLELF HEYTVTQLLF KDVKNATELR KMAVNGEIKG ALINPSMVVD AFQILVATNK
AVHLHKIGKM KTRSLYSEII FNLSPTNNIS EAFKRFGISD SDTAVHIVLV HNKEETLNID
DIISKVDGQQ IDVGQVSEMT DTAKIKKLYK ITPQEDKCGT LLDAVVCRMA IKDVA
