RM48_HUMAN
ID RM48_HUMAN Reviewed; 212 AA.
AC Q96GC5; B4DN34; Q49AK7; Q4U2Q4; Q9P091; Q9Y5J0;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2006, sequence version 2.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=39S ribosomal protein L48, mitochondrial;
DE Short=L48mt;
DE Short=MRP-L48;
DE AltName: Full=Mitochondrial large ribosomal subunit protein mL48 {ECO:0000303|PubMed:25278503};
DE Flags: Precursor;
GN Name=MRPL48; ORFNames=CGI-118, HSPC290;
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] (ISOFORM 1).
RX PubMed=10810093; DOI=10.1101/gr.10.5.703;
RA Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.;
RT "Identification of novel human genes evolutionarily conserved in
RT Caenorhabditis elegans by comparative proteomics.";
RL Genome Res. 10:703-713(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Umbilical cord blood;
RA Ye M., Zhang Q.-H., Zhou J., Shen Y., Wu X.-Y., Guan Z.Q., Wang L.,
RA Fan H.-Y., Mao Y.-F., Dai M., Huang Q.-H., Chen S.-J., Chen Z.;
RT "Human partial CDS from CD34+ stem cells.";
RL Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLY-6.
RC TISSUE=Urinary bladder;
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 [6]
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 [7]
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 [8] {ECO:0007744|PDB:3J7Y}
RP STRUCTURE BY ELECTRON MICROSCOPY (3.40 ANGSTROMS) OF 1-194, SUBCELLULAR
RP LOCATION, 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 [9] {ECO:0007744|PDB:3J9M}
RP STRUCTURE BY ELECTRON MICROSCOPY (3.50 ANGSTROMS) OF 1-194, SUBCELLULAR
RP LOCATION, 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 [10] {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. mL48 is located at the central protuberance
CC (PubMed:25278503, PubMed:25838379). Interacts with OXA1L (By
CC similarity). {ECO:0000250|UniProtKB:Q2YDI5,
CC ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379,
CC ECO:0000269|PubMed:28892042}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25278503,
CC ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96GC5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96GC5-3; Sequence=VSP_054130;
CC -!- SIMILARITY: Belongs to the mitochondrion-specific ribosomal protein
CC mL48 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF28968.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF151876; AAD34113.1; -; mRNA.
DR EMBL; AF161408; AAF28968.1; ALT_INIT; mRNA.
DR EMBL; AK297746; BAG60096.1; -; mRNA.
DR EMBL; AP002770; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC009764; AAH09764.1; -; mRNA.
DR CCDS; CCDS44676.1; -. [Q96GC5-1]
DR RefSeq; NP_001305427.1; NM_001318498.1. [Q96GC5-3]
DR RefSeq; NP_001305428.1; NM_001318499.1.
DR RefSeq; NP_001305429.1; NM_001318500.1.
DR RefSeq; NP_057139.1; NM_016055.5. [Q96GC5-1]
DR PDB; 3J7Y; EM; 3.40 A; f=1-194.
DR PDB; 3J9M; EM; 3.50 A; f=1-194.
DR PDB; 5OOL; EM; 3.06 A; f=1-212.
DR PDB; 5OOM; EM; 3.03 A; f=1-212.
DR PDB; 6I9R; EM; 3.90 A; f=1-212.
DR PDB; 6NU2; EM; 3.90 A; f=48-193.
DR PDB; 6NU3; EM; 4.40 A; f=1-212.
DR PDB; 6VLZ; EM; 2.97 A; f=1-194.
DR PDB; 6VMI; EM; 2.96 A; f=1-194.
DR PDB; 6ZM5; EM; 2.89 A; f=1-212.
DR PDB; 6ZM6; EM; 2.59 A; f=1-212.
DR PDB; 6ZS9; EM; 4.00 A; f=1-212.
DR PDB; 6ZSA; EM; 4.00 A; f=1-212.
DR PDB; 6ZSB; EM; 4.50 A; f=1-212.
DR PDB; 6ZSC; EM; 3.50 A; f=1-212.
DR PDB; 6ZSD; EM; 3.70 A; f=1-212.
DR PDB; 6ZSE; EM; 5.00 A; f=1-212.
DR PDB; 6ZSG; EM; 4.00 A; f=1-212.
DR PDB; 7A5F; EM; 4.40 A; f3=1-212.
DR PDB; 7A5G; EM; 4.33 A; f3=1-212.
DR PDB; 7A5H; EM; 3.30 A; f=1-194.
DR PDB; 7A5I; EM; 3.70 A; f3=1-194.
DR PDB; 7A5J; EM; 3.10 A; f=1-194.
DR PDB; 7A5K; EM; 3.70 A; f3=1-194.
DR PDB; 7L08; EM; 3.49 A; f=1-194.
DR PDB; 7L20; EM; 3.15 A; f=1-194.
DR PDB; 7O9K; EM; 3.10 A; f=1-212.
DR PDB; 7O9M; EM; 2.50 A; f=1-212.
DR PDB; 7ODR; EM; 2.90 A; f=1-212.
DR PDB; 7ODS; EM; 3.10 A; f=1-212.
DR PDB; 7ODT; EM; 3.10 A; f=1-212.
DR PDB; 7OF0; EM; 2.20 A; f=1-212.
DR PDB; 7OF2; EM; 2.70 A; f=1-212.
DR PDB; 7OF3; EM; 2.70 A; f=1-212.
DR PDB; 7OF4; EM; 2.70 A; f=1-212.
DR PDB; 7OF5; EM; 2.90 A; f=1-212.
DR PDB; 7OF6; EM; 2.60 A; f=1-212.
DR PDB; 7OF7; EM; 2.50 A; f=1-212.
DR PDB; 7OG4; EM; 3.80 A; f=1-212.
DR PDB; 7OI7; EM; 3.50 A; f=1-212.
DR PDB; 7OI8; EM; 3.50 A; f=1-212.
DR PDB; 7OI9; EM; 3.30 A; f=1-212.
DR PDB; 7OIA; EM; 3.20 A; f=1-212.
DR PDB; 7OIB; EM; 3.30 A; f=1-212.
DR PDB; 7OIC; EM; 3.10 A; f=1-212.
DR PDB; 7OID; EM; 3.70 A; f=1-212.
DR PDB; 7OIE; EM; 3.50 A; f=1-212.
DR PDB; 7PD3; EM; 3.40 A; f=1-212.
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; Q96GC5; -.
DR SMR; Q96GC5; -.
DR BioGRID; 119652; 155.
DR ComplexPortal; CPX-5226; 39S mitochondrial large ribosomal subunit.
DR CORUM; Q96GC5; -.
DR IntAct; Q96GC5; 46.
DR MINT; Q96GC5; -.
DR STRING; 9606.ENSP00000308717; -.
DR iPTMnet; Q96GC5; -.
DR PhosphoSitePlus; Q96GC5; -.
DR BioMuta; MRPL48; -.
DR DMDM; 118573683; -.
DR EPD; Q96GC5; -.
DR jPOST; Q96GC5; -.
DR MassIVE; Q96GC5; -.
DR MaxQB; Q96GC5; -.
DR PaxDb; Q96GC5; -.
DR PeptideAtlas; Q96GC5; -.
DR PRIDE; Q96GC5; -.
DR ProteomicsDB; 4669; -.
DR ProteomicsDB; 76610; -. [Q96GC5-1]
DR TopDownProteomics; Q96GC5-1; -. [Q96GC5-1]
DR Antibodypedia; 30982; 230 antibodies from 24 providers.
DR DNASU; 51642; -.
DR Ensembl; ENST00000310614.12; ENSP00000308717.7; ENSG00000175581.14. [Q96GC5-1]
DR GeneID; 51642; -.
DR KEGG; hsa:51642; -.
DR MANE-Select; ENST00000310614.12; ENSP00000308717.7; NM_016055.6; NP_057139.1.
DR UCSC; uc001ouh.5; human. [Q96GC5-1]
DR CTD; 51642; -.
DR DisGeNET; 51642; -.
DR GeneCards; MRPL48; -.
DR HGNC; HGNC:16653; MRPL48.
DR HPA; ENSG00000175581; Low tissue specificity.
DR MIM; 611853; gene.
DR neXtProt; NX_Q96GC5; -.
DR OpenTargets; ENSG00000175581; -.
DR PharmGKB; PA30980; -.
DR VEuPathDB; HostDB:ENSG00000175581; -.
DR eggNOG; KOG4060; Eukaryota.
DR GeneTree; ENSGT00390000012955; -.
DR HOGENOM; CLU_095928_0_0_1; -.
DR InParanoid; Q96GC5; -.
DR OMA; MKQHTEA; -.
DR OrthoDB; 1522619at2759; -.
DR PhylomeDB; Q96GC5; -.
DR TreeFam; TF315130; -.
DR PathwayCommons; Q96GC5; -.
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; Q96GC5; -.
DR SIGNOR; Q96GC5; -.
DR BioGRID-ORCS; 51642; 244 hits in 1046 CRISPR screens.
DR ChiTaRS; MRPL48; human.
DR GenomeRNAi; 51642; -.
DR Pharos; Q96GC5; Tdark.
DR PRO; PR:Q96GC5; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q96GC5; protein.
DR Bgee; ENSG00000175581; Expressed in C1 segment of cervical spinal cord and 204 other tissues.
DR ExpressionAtlas; Q96GC5; baseline and differential.
DR Genevisible; Q96GC5; 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; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0032543; P:mitochondrial translation; IC:ComplexPortal.
DR Gene3D; 3.30.70.600; -; 1.
DR InterPro; IPR027487; Ribosomal_L48.
DR InterPro; IPR027486; Ribosomal_S10_dom.
DR InterPro; IPR036838; Ribosomal_S10_dom_sf.
DR PANTHER; PTHR13473; PTHR13473; 1.
DR Pfam; PF00338; Ribosomal_S10; 1.
DR SMART; SM01403; Ribosomal_S10; 1.
DR SUPFAM; SSF54999; SSF54999; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Mitochondrion; Reference proteome;
KW Ribonucleoprotein; Ribosomal protein; Transit peptide.
FT TRANSIT 1..28
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 29..212
FT /note="39S ribosomal protein L48, mitochondrial"
FT /id="PRO_0000261657"
FT MOD_RES 199
FT /note="N6-succinyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q8JZS9"
FT VAR_SEQ 1..37
FT /note="MSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSV -> MGLSSCRKTSS
FT GLPLILHY (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054130"
FT VARIANT 6
FT /note="E -> G (in dbSNP:rs17850551)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_029473"
FT TURN 52..57
FT /evidence="ECO:0007829|PDB:7OF0"
FT HELIX 60..62
FT /evidence="ECO:0007829|PDB:7OF0"
FT STRAND 80..84
FT /evidence="ECO:0007829|PDB:7OIA"
FT STRAND 91..98
FT /evidence="ECO:0007829|PDB:7OF0"
FT HELIX 100..116
FT /evidence="ECO:0007829|PDB:7OF0"
FT STRAND 126..131
FT /evidence="ECO:0007829|PDB:5OOM"
FT STRAND 151..160
FT /evidence="ECO:0007829|PDB:7OF0"
FT HELIX 164..177
FT /evidence="ECO:0007829|PDB:7OF0"
FT STRAND 179..181
FT /evidence="ECO:0007829|PDB:7OIB"
SQ SEQUENCE 212 AA; 23935 MW; 0663B1751B57FFF5 CRC64;
MSGTLEKVLC LRNNTIFKQA FSLLRFRTSG EKPIYSVGGI LLSISRPYKT KPTHGIGKYK
HLIKAEEPKK KKGKVEVRAI NLGTDYEYGV LNIHLTAYDM TLAESYAQYV HNLCNSLSIK
VEESYAMPTK TIEVLQLQDQ GSKMLLDSVL TTHERVVQIS GLSATFAEIF LEIIQSSLPE
GVRLSVKEHT EEDFKGRFKA RPELEELLAK LK
