ELP6_MOUSE
ID ELP6_MOUSE Reviewed; 266 AA.
AC Q8BK75; Q9D0M9;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Elongator complex protein 6;
DE AltName: Full=Protein TMEM103;
GN Name=Elp6; Synonyms=Tmem103;
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] (ISOFORMS 1 AND 2).
RC STRAIN=C57BL/6J; TISSUE=Embryo;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Limb;
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 [3]
RP FUNCTION.
RX PubMed=22854966; DOI=10.1074/jbc.m112.402727;
RA Close P., Gillard M., Ladang A., Jiang Z., Papuga J., Hawkes N., Nguyen L.,
RA Chapelle J.P., Bouillenne F., Svejstrup J., Fillet M., Chariot A.;
RT "DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of
RT melanoma cells as subunits of Elongator.";
RL J. Biol. Chem. 287:32535-32545(2012).
RN [4]
RP TISSUE SPECIFICITY, DISRUPTION PHENOTYPE, AND MUTAGENESIS OF LEU-126.
RX PubMed=30097576; DOI=10.1038/s41467-018-05765-6;
RA Kojic M., Gaik M., Kiska B., Salerno-Kochan A., Hunt S., Tedoldi A.,
RA Mureev S., Jones A., Whittle B., Genovesi L.A., Adolphe C., Brown D.L.,
RA Stow J.L., Alexandrov K., Sah P., Glatt S., Wainwright B.J.;
RT "Elongator mutation in mice induces neurodegeneration and ataxia-like
RT behavior.";
RL Nat. Commun. 9:3195-3195(2018).
CC -!- FUNCTION: Component of the elongator complex which is required for
CC multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl
CC uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U
CC (5-carbamoylmethyl uridine) (By similarity). The elongator complex
CC catalyzes formation of carboxymethyluridine in the wobble base at
CC position 34 in tRNAs (By similarity). Involved in cell migration
CC (PubMed:22854966). {ECO:0000250|UniProtKB:Q0PNE2,
CC ECO:0000269|PubMed:22854966}.
CC -!- PATHWAY: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA
CC biosynthesis. {ECO:0000250|UniProtKB:Q0PNE2}.
CC -!- SUBUNIT: Component of the elongator complex which consists of ELP1,
CC ELP2, ELP3, ELP4, ELP5 and ELP6. {ECO:0000250|UniProtKB:Q0PNE2}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8BK75-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8BK75-2; Sequence=VSP_022723;
CC -!- TISSUE SPECIFICITY: Expressed throughout the cerebellum.
CC {ECO:0000269|PubMed:30097576}.
CC -!- DISRUPTION PHENOTYPE: Early embryonic lethality.
CC {ECO:0000269|PubMed:30097576}.
CC -!- SIMILARITY: Belongs to the ELP6 family. {ECO:0000305}.
CC -!- CAUTION: The elongator complex was originally thought to play a role in
CC transcription elongation. However, it is no longer thought to play a
CC direct role in this process and its primary function is thought to be
CC in tRNA modification. {ECO:0000250|UniProtKB:Q0PNE2}.
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DR EMBL; AK011270; BAB27508.1; -; mRNA.
DR EMBL; AK075986; BAC36098.1; -; mRNA.
DR EMBL; BC048732; AAH48732.1; -; mRNA.
DR CCDS; CCDS52937.1; -. [Q8BK75-1]
DR RefSeq; NP_001074850.1; NM_001081381.1. [Q8BK75-1]
DR AlphaFoldDB; Q8BK75; -.
DR SMR; Q8BK75; -.
DR BioGRID; 215321; 2.
DR STRING; 10090.ENSMUSP00000069017; -.
DR PhosphoSitePlus; Q8BK75; -.
DR EPD; Q8BK75; -.
DR MaxQB; Q8BK75; -.
DR PaxDb; Q8BK75; -.
DR PeptideAtlas; Q8BK75; -.
DR PRIDE; Q8BK75; -.
DR ProteomicsDB; 277788; -. [Q8BK75-1]
DR ProteomicsDB; 277789; -. [Q8BK75-2]
DR Antibodypedia; 48948; 95 antibodies from 14 providers.
DR Ensembl; ENSMUST00000199592; ENSMUSP00000142823; ENSMUSG00000054836. [Q8BK75-1]
DR GeneID; 72341; -.
DR KEGG; mmu:72341; -.
DR UCSC; uc009rtv.1; mouse. [Q8BK75-1]
DR CTD; 54859; -.
DR MGI; MGI:1919349; Elp6.
DR VEuPathDB; HostDB:ENSMUSG00000054836; -.
DR eggNOG; KOG4723; Eukaryota.
DR GeneTree; ENSGT00390000011734; -.
DR InParanoid; Q8BK75; -.
DR OMA; MFTELNS; -.
DR OrthoDB; 1272502at2759; -.
DR PhylomeDB; Q8BK75; -.
DR TreeFam; TF331346; -.
DR UniPathway; UPA00988; -.
DR BioGRID-ORCS; 72341; 20 hits in 72 CRISPR screens.
DR PRO; PR:Q8BK75; -.
DR Proteomes; UP000000589; Chromosome 9.
DR RNAct; Q8BK75; protein.
DR Bgee; ENSMUSG00000054836; Expressed in dentate gyrus of hippocampal formation granule cell and 221 other tissues.
DR ExpressionAtlas; Q8BK75; baseline and differential.
DR Genevisible; Q8BK75; MM.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0033588; C:elongator holoenzyme complex; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISO:MGI.
DR GO; GO:0030335; P:positive regulation of cell migration; IMP:UniProtKB.
DR GO; GO:0002098; P:tRNA wobble uridine modification; IEA:InterPro.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR018627; ELP6.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR16184; PTHR16184; 1.
DR Pfam; PF09807; ELP6; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome; tRNA processing.
FT CHAIN 1..266
FT /note="Elongator complex protein 6"
FT /id="PRO_0000274361"
FT VAR_SEQ 1..18
FT /note="MFPELNNLLSTTPDKTEQ -> MAGEVTQALGGA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_022723"
FT MUTAGEN 126
FT /note="L->Q: In wobbly mutant; destabilization of the
FT elongator complex and reduced tRNA wobble base modification
FT leading to protein misfolding and aggregation in Purkinje
FT neurons (PN), PN degeneration, microgliosis triggered by
FT the NLPR3 inflammasome and an ataxia-like phenotype."
FT /evidence="ECO:0000269|PubMed:30097576"
SQ SEQUENCE 266 AA; 29327 MW; 3A795811CEAD426F CRC64;
MFPELNNLLS TTPDKTEQGT LTLLCDAKTD GSFLVHHFLS FYLKANCKVC FVALVQSFSH
YNIVGQKLGV SLTAARDRGQ LVFLEGLKSS VEVLFHSQDE PHPLQFLREA GTGNLQSLYT
FIQDTLKPAD SEESPWKYPV LLVDNLSVLL SLGVGAVAVL DFMQYCRATV CCELKGNVVA
LVHDTEGATD EGNDTLLNGL SHQSHLILRA EGLATGFCKD VHGQLSILWR RPSRSTAQRA
QSLTYQYKIQ DKNVSFFAKG MSPAVL
