RM01_HUMAN
ID RM01_HUMAN Reviewed; 325 AA.
AC Q9BYD6; A6NG03; Q4W5B8; Q6IAG4; Q96BW3; Q9H793; Q9NRL5;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 16-JUN-2009, sequence version 2.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=39S ribosomal protein L1, mitochondrial;
DE Short=L1mt;
DE Short=MRP-L1;
DE AltName: Full=Mitochondrial large ribosomal subunit protein uL1m {ECO:0000303|PubMed:25278503};
DE Flags: Precursor;
GN Name=MRPL1; ORFNames=BM-022;
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 [LARGE SCALE MRNA].
RC TISSUE=Bone marrow;
RA Zhao M., Song H., Li N., Peng Y., Han Z., Chen Z.;
RT "A novel gene expressed in human bone marrow.";
RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS LYS-47 AND SER-177.
RC TISSUE=Bone marrow, and Skin;
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 [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 10-325, AND SUBCELLULAR LOCATION.
RX PubMed=11279069; DOI=10.1074/jbc.m100432200;
RA Suzuki T., Terasaki M., Takemoto-Hori C., Hanada T., Ueda T., Wada A.,
RA Watanabe K.;
RT "Structural compensation for the deficit of rRNA with proteins in the
RT mammalian mitochondrial ribosome. Systematic analysis of protein components
RT of the large ribosomal subunit from mammalian mitochondria.";
RL J. Biol. Chem. 276:21724-21736(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 23-325.
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 68-325.
RC TISSUE=Coronary artery;
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 [8]
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 [9]
RP NOMENCLATURE.
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]
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).
CC -!- SUBUNIT: Component of the mitochondrial large ribosomal subunit (mt-
CC LSU) (PubMed:11279069). Mature mammalian 55S mitochondrial ribosomes
CC consist of a small (28S) and a large (39S) subunit. The 28S small
CC subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different
CC proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a
CC copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays
CC an integral structural role, and 52 different proteins
CC (PubMed:25278503). {ECO:0000250|UniProtKB:A6QPQ5,
CC ECO:0000305|PubMed:11279069, ECO:0000305|PubMed:25278503}.
CC -!- INTERACTION:
CC Q9BYD6; Q9HD26: GOPC; NbExp=3; IntAct=EBI-5325394, EBI-349832;
CC Q9BYD6; Q8N0X2-4: SPAG16; NbExp=3; IntAct=EBI-5325394, EBI-11946259;
CC Q9BYD6; Q8N1B4: VPS52; NbExp=3; IntAct=EBI-5325394, EBI-2799833;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:A6QPQ5,
CC ECO:0000305|PubMed:11279069}.
CC -!- SIMILARITY: Belongs to the universal ribosomal protein uL1 family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF87327.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAF87327.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAH14356.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAH15109.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAH32595.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAY41057.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=BAB15005.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB40180.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB40180.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF212225; AAF87327.1; ALT_SEQ; mRNA.
DR EMBL; AC112225; AAY41057.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AC114801; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471057; EAX05820.1; -; Genomic_DNA.
DR EMBL; BC014356; AAH14356.1; ALT_INIT; mRNA.
DR EMBL; BC015109; AAH15109.1; ALT_INIT; mRNA.
DR EMBL; BC032595; AAH32595.1; ALT_INIT; mRNA.
DR EMBL; AB049474; BAB40180.1; ALT_SEQ; mRNA.
DR EMBL; CR457191; CAG33472.1; -; mRNA.
DR EMBL; AK024791; BAB15005.1; ALT_INIT; mRNA.
DR CCDS; CCDS3583.2; -.
DR RefSeq; NP_064621.3; NM_020236.3.
DR RefSeq; XP_011530500.1; XM_011532198.2.
DR RefSeq; XP_011530501.1; XM_011532199.1.
DR PDB; 7A5K; EM; 3.70 A; n=23-308.
DR PDBsum; 7A5K; -.
DR AlphaFoldDB; Q9BYD6; -.
DR SMR; Q9BYD6; -.
DR BioGRID; 122371; 183.
DR ComplexPortal; CPX-5226; 39S mitochondrial large ribosomal subunit.
DR CORUM; Q9BYD6; -.
DR IntAct; Q9BYD6; 92.
DR MINT; Q9BYD6; -.
DR STRING; 9606.ENSP00000315017; -.
DR GlyGen; Q9BYD6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BYD6; -.
DR PhosphoSitePlus; Q9BYD6; -.
DR SwissPalm; Q9BYD6; -.
DR BioMuta; MRPL1; -.
DR DMDM; 239938694; -.
DR EPD; Q9BYD6; -.
DR jPOST; Q9BYD6; -.
DR MassIVE; Q9BYD6; -.
DR MaxQB; Q9BYD6; -.
DR PaxDb; Q9BYD6; -.
DR PeptideAtlas; Q9BYD6; -.
DR PRIDE; Q9BYD6; -.
DR ProteomicsDB; 79621; -.
DR Antibodypedia; 24877; 213 antibodies from 27 providers.
DR DNASU; 65008; -.
DR Ensembl; ENST00000315567.13; ENSP00000315017.8; ENSG00000169288.18.
DR GeneID; 65008; -.
DR KEGG; hsa:65008; -.
DR MANE-Select; ENST00000315567.13; ENSP00000315017.8; NM_020236.4; NP_064621.3.
DR UCSC; uc003hku.3; human.
DR CTD; 65008; -.
DR GeneCards; MRPL1; -.
DR HGNC; HGNC:14275; MRPL1.
DR HPA; ENSG00000169288; Low tissue specificity.
DR MIM; 611821; gene.
DR neXtProt; NX_Q9BYD6; -.
DR OpenTargets; ENSG00000169288; -.
DR PharmGKB; PA30938; -.
DR VEuPathDB; HostDB:ENSG00000169288; -.
DR eggNOG; KOG1569; Eukaryota.
DR GeneTree; ENSGT00940000162168; -.
DR HOGENOM; CLU_074129_0_0_1; -.
DR InParanoid; Q9BYD6; -.
DR OMA; INTMRPK; -.
DR OrthoDB; 1432931at2759; -.
DR PhylomeDB; Q9BYD6; -.
DR TreeFam; TF314989; -.
DR PathwayCommons; Q9BYD6; -.
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; Q9BYD6; -.
DR SIGNOR; Q9BYD6; -.
DR BioGRID-ORCS; 65008; 127 hits in 1080 CRISPR screens.
DR ChiTaRS; MRPL1; human.
DR GeneWiki; MRPL1; -.
DR GenomeRNAi; 65008; -.
DR Pharos; Q9BYD6; Tdark.
DR PRO; PR:Q9BYD6; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9BYD6; protein.
DR Bgee; ENSG00000169288; Expressed in left ventricle myocardium and 179 other tissues.
DR ExpressionAtlas; Q9BYD6; baseline and differential.
DR Genevisible; Q9BYD6; HS.
DR GO; GO:0022625; C:cytosolic large ribosomal subunit; IBA:GO_Central.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0005762; C:mitochondrial large ribosomal subunit; IC:ComplexPortal.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0003735; F:structural constituent of ribosome; IEA:InterPro.
DR GO; GO:0000470; P:maturation of LSU-rRNA; IBA:GO_Central.
DR GO; GO:0032543; P:mitochondrial translation; IC:ComplexPortal.
DR CDD; cd00403; Ribosomal_L1; 1.
DR Gene3D; 3.40.50.790; -; 1.
DR InterPro; IPR023674; Ribosomal_L1-like.
DR InterPro; IPR028364; Ribosomal_L1/biogenesis.
DR InterPro; IPR016095; Ribosomal_L1_3-a/b-sand.
DR InterPro; IPR005879; Ribosomal_L1_mit.
DR Pfam; PF00687; Ribosomal_L1; 1.
DR SUPFAM; SSF56808; SSF56808; 1.
DR TIGRFAMs; TIGR01170; rplA_mito; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Mitochondrion; Reference proteome; Ribonucleoprotein;
KW Ribosomal protein; Transit peptide.
FT TRANSIT 1..50
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 51..325
FT /note="39S ribosomal protein L1, mitochondrial"
FT /id="PRO_0000252440"
FT VARIANT 47
FT /note="T -> K (in dbSNP:rs17851275)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027865"
FT VARIANT 177
FT /note="F -> S (in dbSNP:rs17855456)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027866"
FT CONFLICT 85
FT /note="D -> N (in Ref. 7; BAB15005)"
FT /evidence="ECO:0000305"
FT CONFLICT 229
FT /note="D -> H (in Ref. 4; CAG33472)"
FT /evidence="ECO:0000305"
FT CONFLICT 265
FT /note="D -> G (in Ref. 7; BAB15005)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 325 AA; 36909 MW; EB53BEE59065B682 CRC64;
MAAAVRCMGR ALIHHQRHSL SKMVYQTSLC SCSVNIRVPN RHFAAATKSA KKTKKGAKEK
TPDEKKDEIE KIKAYPYMEG EPEDDVYLKR LYPRQIYEVE KAVHLLKKFQ ILDFTSPKQS
VYLDLTLDMA LGKKKNVEPF TSVLSLPYPF ASEINKVAVF TENASEVKIA EENGAAFAGG
TSLIQKIWDD EIVADFYVAV PEIMPELNRL RKKLNKKYPK LSRNSIGRDI PKMLELFKNG
HEIKVDEERE NFLQTKIATL DMSSDQIAAN LQAVINEVCR HRPLNLGPFV VRAFLRSSTS
EGLLLKIDPL LPKEVKNEES EKEDA
