RT23_HUMAN
ID RT23_HUMAN Reviewed; 190 AA.
AC Q9Y3D9; B2R6V3; Q96Q24; Q9BWH8; Q9P053;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 23-MAY-2003, sequence version 2.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=28S ribosomal protein S23, mitochondrial;
DE Short=MRP-S23;
DE Short=S23mt;
DE AltName: Full=Mitochondrial small ribosomal subunit protein mS23;
GN Name=MRPS23; ORFNames=CGI-138, HSPC329;
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].
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].
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].
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].
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
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 NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 77-98.
RX PubMed=11543634; DOI=10.1006/geno.2001.6622;
RA Kenmochi N., Suzuki T., Uechi T., Magoori M., Kuniba M., Higa S.,
RA Watanabe K., Tanaka T.;
RT "The human mitochondrial ribosomal protein genes: mapping of 54 genes to
RT the chromosomes and implications for human disorders.";
RL Genomics 77:65-70(2001).
RN [7]
RP IDENTIFICATION.
RX PubMed=10938081; DOI=10.1074/jbc.m003596200;
RA Koc E.C., Burkhart W., Blackburn K., Moseley A., Koc H., Spremulli L.L.;
RT "A proteomics approach to the identification of mammalian mitochondrial
RT small subunit ribosomal proteins.";
RL J. Biol. Chem. 275:32585-32591(2000).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-102, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [9]
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 [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [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 [11]
RP STRUCTURE BY ELECTRON MICROSCOPY (3.50 ANGSTROMS), SUBUNIT, AND SUBCELLULAR
RP LOCATION.
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 [12]
RP INVOLVEMENT IN COXPD46, AND VARIANT COXPD46 ARG-40.
RX PubMed=26741492; DOI=10.1371/journal.pgen.1005679;
RA Kohda M., Tokuzawa Y., Kishita Y., Nyuzuki H., Moriyama Y., Mizuno Y.,
RA Hirata T., Yatsuka Y., Yamashita-Sugahara Y., Nakachi Y., Kato H.,
RA Okuda A., Tamaru S., Borna N.N., Banshoya K., Aigaki T., Sato-Miyata Y.,
RA Ohnuma K., Suzuki T., Nagao A., Maehata H., Matsuda F., Higasa K.,
RA Nagasaki M., Yasuda J., Yamamoto M., Fushimi T., Shimura M.,
RA Kaiho-Ichimoto K., Harashima H., Yamazaki T., Mori M., Murayama K.,
RA Ohtake A., Okazaki Y.;
RT "A comprehensive genomic analysis reveals the genetic landscape of
RT mitochondrial respiratory chain complex deficiencies.";
RL PLoS Genet. 12:E1005679-E1005679(2016).
CC -!- SUBUNIT: Component of the mitochondrial small ribosomal subunit (mt-
CC SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small
CC (28S) and a large (39S) subunit. The 28S small subunit contains a 12S
CC ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large
CC subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial
CC valine transfer RNA (mt-tRNA(Val)), which plays an integral structural
CC role, and 52 different proteins. {ECO:0000269|PubMed:25838379}.
CC -!- INTERACTION:
CC Q9Y3D9; O15499: GSC2; NbExp=3; IntAct=EBI-1054270, EBI-19954058;
CC Q9Y3D9; O15160: POLR1C; NbExp=3; IntAct=EBI-1054270, EBI-1055079;
CC Q9Y3D9; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-1054270, EBI-739895;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
CC -!- DISEASE: Combined oxidative phosphorylation deficiency 46 (COXPD46)
CC [MIM:618952]: An autosomal recessive disorder characterized by
CC childhood-onset mitochondrial respiratory chain complex deficiencies,
CC particularly complexes I and IV, and hepatic disease.
CC {ECO:0000269|PubMed:26741492}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the mitochondrion-specific ribosomal protein
CC mS23 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD34133.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAF29007.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF151896; AAD34133.1; ALT_FRAME; mRNA.
DR EMBL; AF161447; AAF29007.1; ALT_FRAME; mRNA.
DR EMBL; AK312729; BAG35600.1; -; mRNA.
DR EMBL; CH471109; EAW94503.1; -; Genomic_DNA.
DR EMBL; BC000242; AAH00242.1; -; mRNA.
DR EMBL; AB061206; BAB54956.1; -; Genomic_DNA.
DR CCDS; CCDS11598.1; -.
DR RefSeq; NP_057154.2; NM_016070.3.
DR PDB; 3J9M; EM; 3.50 A; AS=1-190.
DR PDB; 6NU2; EM; 3.90 A; AS=2-127.
DR PDB; 6NU3; EM; 4.40 A; AS=1-190.
DR PDB; 6RW4; EM; 2.97 A; S=1-190.
DR PDB; 6RW5; EM; 3.14 A; S=1-190.
DR PDB; 6VLZ; EM; 2.97 A; AS=1-190.
DR PDB; 6VMI; EM; 2.96 A; AS=1-190.
DR PDB; 6ZM5; EM; 2.89 A; AS=1-190.
DR PDB; 6ZM6; EM; 2.59 A; AS=1-190.
DR PDB; 6ZS9; EM; 4.00 A; AS=1-190.
DR PDB; 6ZSA; EM; 4.00 A; AS=1-190.
DR PDB; 6ZSB; EM; 4.50 A; AS=1-190.
DR PDB; 6ZSC; EM; 3.50 A; AS=1-190.
DR PDB; 6ZSD; EM; 3.70 A; AS=1-190.
DR PDB; 6ZSE; EM; 5.00 A; AS=1-190.
DR PDB; 6ZSG; EM; 4.00 A; AS=1-190.
DR PDB; 7A5F; EM; 4.40 A; S6=1-190.
DR PDB; 7A5G; EM; 4.33 A; S6=1-190.
DR PDB; 7A5I; EM; 3.70 A; S6=1-190.
DR PDB; 7A5K; EM; 3.70 A; S6=1-190.
DR PDB; 7L08; EM; 3.49 A; AS=1-190.
DR PDB; 7OG4; EM; 3.80 A; AS=1-190.
DR PDBsum; 3J9M; -.
DR PDBsum; 6NU2; -.
DR PDBsum; 6NU3; -.
DR PDBsum; 6RW4; -.
DR PDBsum; 6RW5; -.
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; 7A5I; -.
DR PDBsum; 7A5K; -.
DR PDBsum; 7L08; -.
DR PDBsum; 7OG4; -.
DR AlphaFoldDB; Q9Y3D9; -.
DR SMR; Q9Y3D9; -.
DR BioGRID; 119657; 256.
DR ComplexPortal; CPX-5225; 28S mitochondrial small ribosomal subunit.
DR CORUM; Q9Y3D9; -.
DR IntAct; Q9Y3D9; 90.
DR MINT; Q9Y3D9; -.
DR STRING; 9606.ENSP00000320184; -.
DR ChEMBL; CHEMBL4295990; -.
DR GlyGen; Q9Y3D9; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y3D9; -.
DR PhosphoSitePlus; Q9Y3D9; -.
DR SwissPalm; Q9Y3D9; -.
DR BioMuta; MRPS23; -.
DR DMDM; 31077184; -.
DR EPD; Q9Y3D9; -.
DR jPOST; Q9Y3D9; -.
DR MassIVE; Q9Y3D9; -.
DR MaxQB; Q9Y3D9; -.
DR PaxDb; Q9Y3D9; -.
DR PeptideAtlas; Q9Y3D9; -.
DR PRIDE; Q9Y3D9; -.
DR ProteomicsDB; 86026; -.
DR TopDownProteomics; Q9Y3D9; -.
DR Antibodypedia; 18338; 133 antibodies from 22 providers.
DR DNASU; 51649; -.
DR Ensembl; ENST00000313608.13; ENSP00000320184.8; ENSG00000181610.13.
DR GeneID; 51649; -.
DR KEGG; hsa:51649; -.
DR MANE-Select; ENST00000313608.13; ENSP00000320184.8; NM_016070.4; NP_057154.2.
DR UCSC; uc002ivc.4; human.
DR CTD; 51649; -.
DR DisGeNET; 51649; -.
DR GeneCards; MRPS23; -.
DR HGNC; HGNC:14509; MRPS23.
DR HPA; ENSG00000181610; Low tissue specificity.
DR MalaCards; MRPS23; -.
DR MIM; 611985; gene.
DR MIM; 618952; phenotype.
DR neXtProt; NX_Q9Y3D9; -.
DR OpenTargets; ENSG00000181610; -.
DR PharmGKB; PA31011; -.
DR VEuPathDB; HostDB:ENSG00000181610; -.
DR eggNOG; ENOG502RZIC; Eukaryota.
DR GeneTree; ENSGT00390000009030; -.
DR InParanoid; Q9Y3D9; -.
DR OMA; RIRAKYY; -.
DR OrthoDB; 1115569at2759; -.
DR PhylomeDB; Q9Y3D9; -.
DR TreeFam; TF106116; -.
DR PathwayCommons; Q9Y3D9; -.
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; Q9Y3D9; -.
DR SIGNOR; Q9Y3D9; -.
DR BioGRID-ORCS; 51649; 467 hits in 1090 CRISPR screens.
DR ChiTaRS; MRPS23; human.
DR GenomeRNAi; 51649; -.
DR Pharos; Q9Y3D9; Tbio.
DR PRO; PR:Q9Y3D9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9Y3D9; protein.
DR Bgee; ENSG00000181610; Expressed in left ventricle myocardium and 185 other tissues.
DR ExpressionAtlas; Q9Y3D9; baseline and differential.
DR Genevisible; Q9Y3D9; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0005763; C:mitochondrial small ribosomal subunit; IC:ComplexPortal.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0031965; C:nuclear membrane; IDA:HPA.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0003735; F:structural constituent of ribosome; IEA:InterPro.
DR GO; GO:0032543; P:mitochondrial translation; IC:ComplexPortal.
DR InterPro; IPR019520; Ribosomal_S23.
DR InterPro; IPR023611; Ribosomal_S23/S25_mit.
DR PANTHER; PTHR15925; PTHR15925; 1.
DR Pfam; PF10484; MRP-S23; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Disease variant; Mitochondrion;
KW Primary mitochondrial disease; Reference proteome; Ribonucleoprotein;
KW Ribosomal protein.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:25944712"
FT CHAIN 2..190
FT /note="28S ribosomal protein S23, mitochondrial"
FT /id="PRO_0000087705"
FT REGION 139..190
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 139..176
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:25944712"
FT MOD_RES 102
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT VARIANT 40
FT /note="P -> R (in COXPD46)"
FT /evidence="ECO:0000269|PubMed:26741492"
FT /id="VAR_076269"
FT CONFLICT 11
FT /note="S -> C (in Ref. 1; AAD34133)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 190 AA; 21771 MW; 0A50DEDA9BFB74AF CRC64;
MAGSRLETVG SIFSRTRDLV RAGVLKEKPL WFDVYDAFPP LREPVFQRPR VRYGKAKAPI
QDIWYHEDRI RAKFYSVYGS GQRAFDLFNP NFKSTCQRFV EKYTELQKLG ETDEEKLFVE
TGKALLAEGV ILRRVGEART QHGGSHVSRK SEHLSVRPQT ALEENETQKE VPQDQHLEAP
ADQSKGLLPP
