RM40_HUMAN
ID RM40_HUMAN Reviewed; 206 AA.
AC Q9NQ50; B3KVZ7; O95134;
DT 27-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 166.
DE RecName: Full=39S ribosomal protein L40, mitochondrial;
DE Short=L40mt;
DE Short=MRP-L40;
DE AltName: Full=Mitochondrial large ribosomal subunit protein mL40 {ECO:0000303|PubMed:25278503};
DE AltName: Full=Nuclear localization signal-containing protein deleted in velocardiofacial syndrome;
DE AltName: Full=Up-regulated in metastasis;
DE Flags: Precursor;
GN Name=MRPL40; Synonyms=NLVCF, URIM;
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], TISSUE SPECIFICITY, AND VARIANTS PRO-11 AND
RP HIS-129.
RX PubMed=9790763; DOI=10.1006/geno.1998.5488;
RA Funke B., Puech A., Saint-Jore B., Pandita R., Skoultchi A., Morrow B.;
RT "Isolation and characterization of a human gene containing a nuclear
RT localization signal from the critical region for velo-cardio-facial
RT syndrome on 22q11.";
RL Genomics 53:146-154(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=10226592;
RA Hildebrandt T., Weidle U.H., Preiherr J., van Muijen G.N.P.,
RA Klostermann S., Kaul S., Zendman A.J.W.;
RT "Identification of URIM, a novel gene up-regulated in metastasis.";
RL Anticancer Res. 19:525-530(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=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 [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [9] {ECO:0007744|PDB:3J7Y}
RP STRUCTURE BY ELECTRON MICROSCOPY (3.40 ANGSTROMS), SUBCELLULAR LOCATION,
RP AND SUBUNIT.
RX PubMed=25278503; DOI=10.1126/science.1258026;
RA Brown A., Amunts A., Bai X.C., Sugimoto Y., Edwards P.C., Murshudov G.,
RA Scheres S.H., Ramakrishnan V.;
RT "Structure of the large ribosomal subunit from human mitochondria.";
RL Science 346:718-722(2014).
RN [10] {ECO:0007744|PDB:3J9M}
RP STRUCTURE BY ELECTRON MICROSCOPY (3.50 ANGSTROMS), SUBCELLULAR LOCATION,
RP AND SUBUNIT.
RX PubMed=25838379; DOI=10.1126/science.aaa1193;
RA Amunts A., Brown A., Toots J., Scheres S.H., Ramakrishnan V.;
RT "Ribosome. The structure of the human mitochondrial ribosome.";
RL Science 348:95-98(2015).
RN [11] {ECO:0007744|PDB:5OOL, ECO:0007744|PDB:5OOM}
RP STRUCTURE BY ELECTRON MICROSCOPY (3.03 ANGSTROMS), SUBCELLULAR LOCATION,
RP AND SUBUNIT.
RX PubMed=28892042; DOI=10.1038/nsmb.3464;
RA Brown A., Rathore S., Kimanius D., Aibara S., Bai X.C., Rorbach J.,
RA Amunts A., Ramakrishnan V.;
RT "Structures of the human mitochondrial ribosome in native states of
RT assembly.";
RL Nat. Struct. Mol. Biol. 24:866-869(2017).
CC -!- SUBUNIT: Component of the mitochondrial large ribosomal subunit (mt-
CC LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature
CC mammalian 55S mitochondrial ribosomes consist of a small (28S) and a
CC large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA
CC (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains
CC a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA
CC (mt-tRNA(Val)), which plays an integral structural role, and 52
CC different proteins. mL40 binds to the major groove of the anticodon
CC stem of mt-tRNA(Val) in the central protuberance.
CC {ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379,
CC ECO:0000269|PubMed:28892042}.
CC -!- INTERACTION:
CC Q9NQ50; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-1053902, EBI-3867333;
CC Q9NQ50; Q15323: KRT31; NbExp=3; IntAct=EBI-1053902, EBI-948001;
CC Q9NQ50; Q9BYR8: KRTAP3-1; NbExp=3; IntAct=EBI-1053902, EBI-9996449;
CC Q9NQ50; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-1053902, EBI-945833;
CC Q9NQ50; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-1053902, EBI-22310682;
CC Q9NQ50; Q12800: TFCP2; NbExp=3; IntAct=EBI-1053902, EBI-717422;
CC Q9NQ50; P14373: TRIM27; NbExp=3; IntAct=EBI-1053902, EBI-719493;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25278503,
CC ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9790763}.
CC -!- SIMILARITY: Belongs to the mitochondrion-specific ribosomal protein
CC mL40 family. {ECO:0000305}.
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DR EMBL; AF034091; AAC70904.1; -; mRNA.
DR EMBL; AJ295637; CAC00535.1; -; mRNA.
DR EMBL; CR456532; CAG30418.1; -; mRNA.
DR EMBL; AK123768; BAG53959.1; -; mRNA.
DR EMBL; CH471176; EAX03042.1; -; Genomic_DNA.
DR EMBL; BC009707; AAH09707.1; -; mRNA.
DR CCDS; CCDS13760.1; -.
DR RefSeq; NP_003767.2; NM_003776.3.
DR PDB; 3J7Y; EM; 3.40 A; 8=1-206.
DR PDB; 3J9M; EM; 3.50 A; 8=1-206.
DR PDB; 5OOL; EM; 3.06 A; 8=1-206.
DR PDB; 5OOM; EM; 3.03 A; 8=1-206.
DR PDB; 6I9R; EM; 3.90 A; 8=1-206.
DR PDB; 6NU2; EM; 3.90 A; 8=83-181.
DR PDB; 6NU3; EM; 4.40 A; 8=1-206.
DR PDB; 6VLZ; EM; 2.97 A; 8=1-206.
DR PDB; 6VMI; EM; 2.96 A; 8=1-206.
DR PDB; 6ZM5; EM; 2.89 A; 8=1-206.
DR PDB; 6ZM6; EM; 2.59 A; 8=1-206.
DR PDB; 6ZS9; EM; 4.00 A; 8=1-206.
DR PDB; 6ZSA; EM; 4.00 A; 8=1-206.
DR PDB; 6ZSB; EM; 4.50 A; 8=1-206.
DR PDB; 6ZSC; EM; 3.50 A; 8=1-206.
DR PDB; 6ZSD; EM; 3.70 A; 8=1-206.
DR PDB; 6ZSE; EM; 5.00 A; 8=1-206.
DR PDB; 6ZSG; EM; 4.00 A; 8=1-206.
DR PDB; 7A5F; EM; 4.40 A; A=1-206.
DR PDB; 7A5G; EM; 4.33 A; A=1-206.
DR PDB; 7A5H; EM; 3.30 A; 8=1-206.
DR PDB; 7A5I; EM; 3.70 A; 83=1-206.
DR PDB; 7A5J; EM; 3.10 A; 8=1-206.
DR PDB; 7A5K; EM; 3.70 A; A=1-206.
DR PDB; 7L08; EM; 3.49 A; 8=1-206.
DR PDB; 7L20; EM; 3.15 A; 8=1-206.
DR PDB; 7O9K; EM; 3.10 A; 8=1-206.
DR PDB; 7O9M; EM; 2.50 A; 8=1-206.
DR PDB; 7ODR; EM; 2.90 A; 8=1-206.
DR PDB; 7ODS; EM; 3.10 A; 8=1-206.
DR PDB; 7ODT; EM; 3.10 A; 8=1-206.
DR PDB; 7OF0; EM; 2.20 A; 8=1-206.
DR PDB; 7OF2; EM; 2.70 A; 8=1-206.
DR PDB; 7OF3; EM; 2.70 A; 8=1-206.
DR PDB; 7OF4; EM; 2.70 A; 8=1-206.
DR PDB; 7OF5; EM; 2.90 A; 8=1-206.
DR PDB; 7OF6; EM; 2.60 A; 8=1-206.
DR PDB; 7OF7; EM; 2.50 A; 8=1-206.
DR PDB; 7OG4; EM; 3.80 A; 8=1-206.
DR PDB; 7OI7; EM; 3.50 A; 8=1-206.
DR PDB; 7OI8; EM; 3.50 A; 8=1-206.
DR PDB; 7OI9; EM; 3.30 A; 8=1-206.
DR PDB; 7OIA; EM; 3.20 A; 8=1-206.
DR PDB; 7OIB; EM; 3.30 A; 8=1-206.
DR PDB; 7OIC; EM; 3.10 A; 8=1-206.
DR PDB; 7OID; EM; 3.70 A; 8=1-206.
DR PDB; 7OIE; EM; 3.50 A; 8=1-206.
DR PDB; 7PD3; EM; 3.40 A; 8=1-206.
DR PDBsum; 3J7Y; -.
DR PDBsum; 3J9M; -.
DR PDBsum; 5OOL; -.
DR PDBsum; 5OOM; -.
DR PDBsum; 6I9R; -.
DR PDBsum; 6NU2; -.
DR PDBsum; 6NU3; -.
DR PDBsum; 6VLZ; -.
DR PDBsum; 6VMI; -.
DR PDBsum; 6ZM5; -.
DR PDBsum; 6ZM6; -.
DR PDBsum; 6ZS9; -.
DR PDBsum; 6ZSA; -.
DR PDBsum; 6ZSB; -.
DR PDBsum; 6ZSC; -.
DR PDBsum; 6ZSD; -.
DR PDBsum; 6ZSE; -.
DR PDBsum; 6ZSG; -.
DR PDBsum; 7A5F; -.
DR PDBsum; 7A5G; -.
DR PDBsum; 7A5H; -.
DR PDBsum; 7A5I; -.
DR PDBsum; 7A5J; -.
DR PDBsum; 7A5K; -.
DR PDBsum; 7L08; -.
DR PDBsum; 7L20; -.
DR PDBsum; 7O9K; -.
DR PDBsum; 7O9M; -.
DR PDBsum; 7ODR; -.
DR PDBsum; 7ODS; -.
DR PDBsum; 7ODT; -.
DR PDBsum; 7OF0; -.
DR PDBsum; 7OF2; -.
DR PDBsum; 7OF3; -.
DR PDBsum; 7OF4; -.
DR PDBsum; 7OF5; -.
DR PDBsum; 7OF6; -.
DR PDBsum; 7OF7; -.
DR PDBsum; 7OG4; -.
DR PDBsum; 7OI7; -.
DR PDBsum; 7OI8; -.
DR PDBsum; 7OI9; -.
DR PDBsum; 7OIA; -.
DR PDBsum; 7OIB; -.
DR PDBsum; 7OIC; -.
DR PDBsum; 7OID; -.
DR PDBsum; 7OIE; -.
DR PDBsum; 7PD3; -.
DR AlphaFoldDB; Q9NQ50; -.
DR SMR; Q9NQ50; -.
DR BioGRID; 122364; 163.
DR ComplexPortal; CPX-5226; 39S mitochondrial large ribosomal subunit.
DR CORUM; Q9NQ50; -.
DR IntAct; Q9NQ50; 46.
DR MINT; Q9NQ50; -.
DR STRING; 9606.ENSP00000333401; -.
DR GlyGen; Q9NQ50; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9NQ50; -.
DR MetOSite; Q9NQ50; -.
DR PhosphoSitePlus; Q9NQ50; -.
DR BioMuta; MRPL40; -.
DR DMDM; 21263795; -.
DR EPD; Q9NQ50; -.
DR jPOST; Q9NQ50; -.
DR MassIVE; Q9NQ50; -.
DR MaxQB; Q9NQ50; -.
DR PaxDb; Q9NQ50; -.
DR PeptideAtlas; Q9NQ50; -.
DR PRIDE; Q9NQ50; -.
DR ProteomicsDB; 82081; -.
DR TopDownProteomics; Q9NQ50; -.
DR Antibodypedia; 209; 139 antibodies from 24 providers.
DR DNASU; 64976; -.
DR Ensembl; ENST00000333130.4; ENSP00000333401.3; ENSG00000185608.9.
DR GeneID; 64976; -.
DR KEGG; hsa:64976; -.
DR MANE-Select; ENST00000333130.4; ENSP00000333401.3; NM_003776.4; NP_003767.2.
DR UCSC; uc002zpg.4; human.
DR CTD; 64976; -.
DR DisGeNET; 64976; -.
DR GeneCards; MRPL40; -.
DR HGNC; HGNC:14491; MRPL40.
DR HPA; ENSG00000185608; Low tissue specificity.
DR MIM; 605089; gene.
DR neXtProt; NX_Q9NQ50; -.
DR OpenTargets; ENSG00000185608; -.
DR PharmGKB; PA30972; -.
DR VEuPathDB; HostDB:ENSG00000185608; -.
DR eggNOG; KOG4778; Eukaryota.
DR GeneTree; ENSGT00390000010239; -.
DR HOGENOM; CLU_087493_0_0_1; -.
DR InParanoid; Q9NQ50; -.
DR OMA; ATPPIKD; -.
DR OrthoDB; 1524457at2759; -.
DR PhylomeDB; Q9NQ50; -.
DR TreeFam; TF105982; -.
DR PathwayCommons; Q9NQ50; -.
DR Reactome; R-HSA-5368286; Mitochondrial translation initiation.
DR Reactome; R-HSA-5389840; Mitochondrial translation elongation.
DR Reactome; R-HSA-5419276; Mitochondrial translation termination.
DR SignaLink; Q9NQ50; -.
DR SIGNOR; Q9NQ50; -.
DR BioGRID-ORCS; 64976; 244 hits in 1087 CRISPR screens.
DR ChiTaRS; MRPL40; human.
DR GeneWiki; MRPL40; -.
DR GenomeRNAi; 64976; -.
DR Pharos; Q9NQ50; Tbio.
DR PRO; PR:Q9NQ50; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q9NQ50; protein.
DR Bgee; ENSG00000185608; Expressed in skeletal muscle tissue of rectus abdominis and 214 other tissues.
DR Genevisible; Q9NQ50; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0005762; C:mitochondrial large ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0005761; C:mitochondrial ribosome; ISS:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005634; C:nucleus; TAS:ProtInc.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR GO; GO:0032543; P:mitochondrial translation; IC:ComplexPortal.
DR InterPro; IPR039145; MRPL40.
DR InterPro; IPR019192; Ribosomal_L28/L40_mit.
DR PANTHER; PTHR13359; PTHR13359; 1.
DR Pfam; PF09812; MRP-L28; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Mitochondrion; Reference proteome; Ribonucleoprotein;
KW Ribosomal protein; Transit peptide.
FT TRANSIT 1..46
FT /note="Mitochondrion"
FT /evidence="ECO:0000250|UniProtKB:P83565"
FT CHAIN 47..206
FT /note="39S ribosomal protein L40, mitochondrial"
FT /id="PRO_0000030558"
FT REGION 168..192
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 11
FT /note="L -> P (in dbSNP:rs1128399)"
FT /evidence="ECO:0000269|PubMed:9790763"
FT /id="VAR_061809"
FT VARIANT 129
FT /note="R -> H (in dbSNP:rs7575)"
FT /evidence="ECO:0000269|PubMed:9790763"
FT /id="VAR_016088"
FT TURN 92..95
FT /evidence="ECO:0007829|PDB:7OIA"
FT HELIX 108..153
FT /evidence="ECO:0007829|PDB:7OF0"
FT TURN 155..157
FT /evidence="ECO:0007829|PDB:7OF0"
FT HELIX 158..161
FT /evidence="ECO:0007829|PDB:7OF0"
FT STRAND 166..168
FT /evidence="ECO:0007829|PDB:5OOL"
FT STRAND 177..179
FT /evidence="ECO:0007829|PDB:7OF0"
SQ SEQUENCE 206 AA; 24490 MW; AE6262A9A94B05FD CRC64;
MTASVLRSIS LALRPTSGLL GTWQTQLRET HQRASLLSFW ELIPMRSEPL RKKKKVDPKK
DQEAKERLKR KIRKLEKATQ ELIPIEDFIT PLKFLDKARE RPQVELTFEE TERRALLLKK
WSLYKQQERK MERDTIRAML EAQQEALEEL QLESPKLHAE AIKRDPNLFP FEKEGPHYTP
PIPNYQPPEG RYNDITKVYT QVEFKR
