LAGE3_MOUSE
ID LAGE3_MOUSE Reviewed; 148 AA.
AC Q9CR70;
DT 11-OCT-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 106.
DE RecName: Full=EKC/KEOPS complex subunit Lage3 {ECO:0000305};
DE AltName: Full=ITBA2 protein homolog {ECO:0000250|UniProtKB:Q14657};
DE AltName: Full=L antigen family member 3;
GN Name=Lage3 {ECO:0000312|MGI:MGI:1913442};
GN Synonyms=Itba2 {ECO:0000250|UniProtKB:Q14657};
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=C57BL/6J; TISSUE=Kidney;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
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. LAGE3 functions
CC as a dimerization module for the complex.
CC {ECO:0000250|UniProtKB:Q14657}.
CC -!- SUBUNIT: Component of the EKC/KEOPS complex composed of at least GON7,
CC TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes.
CC {ECO:0000250|UniProtKB:Q14657}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q14657}. Nucleus
CC {ECO:0000250|UniProtKB:Q14657}.
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 CTAG/PCC1 family. {ECO:0000305}.
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DR EMBL; AK002539; BAB22174.1; -; mRNA.
DR EMBL; AK004210; BAB23222.1; -; mRNA.
DR CCDS; CCDS30229.1; -.
DR RefSeq; NP_079686.1; NM_025410.2.
DR AlphaFoldDB; Q9CR70; -.
DR SMR; Q9CR70; -.
DR BioGRID; 211284; 10.
DR STRING; 10090.ENSMUSP00000015433; -.
DR iPTMnet; Q9CR70; -.
DR PhosphoSitePlus; Q9CR70; -.
DR EPD; Q9CR70; -.
DR MaxQB; Q9CR70; -.
DR PaxDb; Q9CR70; -.
DR PRIDE; Q9CR70; -.
DR ProteomicsDB; 263695; -.
DR Antibodypedia; 31283; 30 antibodies from 16 providers.
DR DNASU; 66192; -.
DR Ensembl; ENSMUST00000015433; ENSMUSP00000015433; ENSMUSG00000015289.
DR GeneID; 66192; -.
DR KEGG; mmu:66192; -.
DR UCSC; uc009toq.1; mouse.
DR CTD; 8270; -.
DR MGI; MGI:1913442; Lage3.
DR VEuPathDB; HostDB:ENSMUSG00000015289; -.
DR eggNOG; ENOG502SBSA; Eukaryota.
DR GeneTree; ENSGT00410000025802; -.
DR HOGENOM; CLU_113770_2_2_1; -.
DR InParanoid; Q9CR70; -.
DR OMA; HQRVIGK; -.
DR OrthoDB; 1584653at2759; -.
DR PhylomeDB; Q9CR70; -.
DR TreeFam; TF337064; -.
DR BioGRID-ORCS; 66192; 22 hits in 75 CRISPR screens.
DR ChiTaRS; Lage3; mouse.
DR PRO; PR:Q9CR70; -.
DR Proteomes; UP000000589; Chromosome X.
DR RNAct; Q9CR70; protein.
DR Bgee; ENSMUSG00000015289; Expressed in yolk sac and 270 other tissues.
DR ExpressionAtlas; Q9CR70; baseline and differential.
DR Genevisible; Q9CR70; MM.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0000408; C:EKC/KEOPS complex; ISS:UniProtKB.
DR GO; GO:0016604; C:nuclear body; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0008033; P:tRNA processing; IEA:UniProtKB-KW.
DR GO; GO:0070525; P:tRNA threonylcarbamoyladenosine metabolic process; IBA:GO_Central.
DR InterPro; IPR015419; CTAG/Pcc1.
DR PANTHER; PTHR31283; PTHR31283; 1.
DR Pfam; PF09341; Pcc1; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm; Nucleus; Reference proteome; tRNA processing.
FT CHAIN 1..148
FT /note="EKC/KEOPS complex subunit Lage3"
FT /id="PRO_0000218925"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..16
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 148 AA; 15824 MW; 17C28868F7E064CC CRC64;
MQTAHTGLSH TADGADGQTS RCCPGNAGTK AVIPSGAHPV ARALEASRNS SKSMVPLTQR
PGTRHHRFSL FVPFPTSLEA EIACGSLVPD VEPHRGLVGK ELKVSGCMLE VRWIAEDSRL
LRLSIINFLD QLSLVVNTIQ LFGPPVSC
