RT34_HUMAN
ID RT34_HUMAN Reviewed; 218 AA.
AC P82930; Q9BVI7;
DT 19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 19-OCT-2002, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=28S ribosomal protein S34, mitochondrial;
DE Short=MRP-S34;
DE Short=S34mt;
DE AltName: Full=Mitochondrial small ribosomal subunit protein mS34 {ECO:0000303|PubMed:25838379};
GN Name=MRPS34;
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] {ECO:0000305}
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 [2] {ECO:0000305}
RP IDENTIFICATION.
RX PubMed=11279123; DOI=10.1074/jbc.m100727200;
RA Koc E.C., Burkhart W., Blackburn K., Moseley A., Spremulli L.L.;
RT "The small subunit of the mammalian mitochondrial ribosome: identification
RT of the full complement of ribosomal proteins present.";
RL J. Biol. Chem. 276:19363-19374(2001).
RN [3]
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 [4]
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 [5]
RP FUNCTION, INVOLVEMENT IN COXPD32, VARIANTS COXPD32 LYS-13; 32-GLN--VAL-218
RP DEL AND 100-VAL--GLN-107 DEL, AND CHARACTERIZATION OF VARIANTS COXPD32
RP LYS-13 AND 32-GLN--VAL-218 DEL.
RX PubMed=28777931; DOI=10.1016/j.ajhg.2017.07.005;
RA Lake N.J., Webb B.D., Stroud D.A., Richman T.R., Ruzzenente B.,
RA Compton A.G., Mountford H.S., Pulman J., Zangarelli C., Rio M., Bodaert N.,
RA Assouline Z., Sherpa M.D., Schadt E.E., Houten S.M., Byrnes J.,
RA McCormick E.M., Zolkipli-Cunningham Z., Haude K., Zhang Z., Retterer K.,
RA Bai R., Calvo S.E., Mootha V.K., Christodoulou J., Roetig A.,
RA Filipovska A., Cristian I., Falk M.J., Metodiev M.D., Thorburn D.R.;
RT "Biallelic Mutations in MRPS34 Lead to Instability of the Small
RT Mitoribosomal Subunit and Leigh Syndrome.";
RL Am. J. Hum. Genet. 101:239-254(2017).
RN [6]
RP STRUCTURE BY ELECTRON MICROSCOPY (3.50 ANGSTROMS), 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).
CC -!- FUNCTION: Required for mitochondrial translation, plays a role in
CC maintaining the stability of the small ribosomal subunit and the 12S
CC rRNA that are required for mitoribosome formation.
CC {ECO:0000269|PubMed:28777931}.
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 -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11279123}.
CC -!- DISEASE: Combined oxidative phosphorylation deficiency 32 (COXPD32)
CC [MIM:617664]: An autosomal recessive disorder due to deficiency of
CC mitochondrial respiratory chain complexes, I, III and IV, and
CC characterized by delayed psychomotor development and neurodevelopmental
CC regression. Additional variable symptoms include poor or absent speech,
CC inability to walk, and abnormal movements.
CC {ECO:0000269|PubMed:28777931}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the mitochondrion-specific ribosomal protein
CC mS34 family. {ECO:0000305}.
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DR EMBL; BC001182; AAH01182.1; -; mRNA.
DR CCDS; CCDS10444.1; -.
DR RefSeq; NP_001287829.1; NM_001300900.1.
DR RefSeq; NP_076425.1; NM_023936.1.
DR PDB; 3J9M; EM; 3.50 A; A0=1-218.
DR PDB; 6NU2; EM; 3.90 A; A0=6-213.
DR PDB; 6RW4; EM; 2.97 A; 0=1-218.
DR PDB; 6RW5; EM; 3.14 A; 0=1-218.
DR PDB; 6VLZ; EM; 2.97 A; A0=1-218.
DR PDB; 6VMI; EM; 2.96 A; A0=1-218.
DR PDB; 6ZM5; EM; 2.89 A; A0=1-218.
DR PDB; 6ZM6; EM; 2.59 A; A0=1-218.
DR PDB; 6ZS9; EM; 4.00 A; A0=1-218.
DR PDB; 6ZSA; EM; 4.00 A; A0=1-218.
DR PDB; 6ZSB; EM; 4.50 A; A0=1-218.
DR PDB; 6ZSC; EM; 3.50 A; A0=1-218.
DR PDB; 6ZSD; EM; 3.70 A; A0=1-218.
DR PDB; 6ZSE; EM; 5.00 A; A0=1-218.
DR PDB; 6ZSG; EM; 4.00 A; A0=1-218.
DR PDB; 7A5F; EM; 4.40 A; a6=1-218.
DR PDB; 7A5G; EM; 4.33 A; a6=1-218.
DR PDB; 7A5I; EM; 3.70 A; a6=1-218.
DR PDB; 7A5K; EM; 3.70 A; a6=1-218.
DR PDB; 7L08; EM; 3.49 A; A0=1-218.
DR PDB; 7OG4; EM; 3.80 A; A0=1-218.
DR PDBsum; 3J9M; -.
DR PDBsum; 6NU2; -.
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; P82930; -.
DR SMR; P82930; -.
DR BioGRID; 122442; 277.
DR ComplexPortal; CPX-5225; 28S mitochondrial small ribosomal subunit.
DR CORUM; P82930; -.
DR IntAct; P82930; 117.
DR MINT; P82930; -.
DR STRING; 9606.ENSP00000177742; -.
DR iPTMnet; P82930; -.
DR MetOSite; P82930; -.
DR PhosphoSitePlus; P82930; -.
DR SwissPalm; P82930; -.
DR BioMuta; MRPS34; -.
DR DMDM; 24212369; -.
DR EPD; P82930; -.
DR jPOST; P82930; -.
DR MassIVE; P82930; -.
DR MaxQB; P82930; -.
DR PaxDb; P82930; -.
DR PeptideAtlas; P82930; -.
DR PRIDE; P82930; -.
DR ProteomicsDB; 57722; -.
DR TopDownProteomics; P82930; -.
DR Antibodypedia; 23234; 309 antibodies from 27 providers.
DR DNASU; 65993; -.
DR Ensembl; ENST00000397375.7; ENSP00000380531.3; ENSG00000074071.15.
DR GeneID; 65993; -.
DR KEGG; hsa:65993; -.
DR MANE-Select; ENST00000397375.7; ENSP00000380531.3; NM_023936.2; NP_076425.1.
DR UCSC; uc002cmo.4; human.
DR CTD; 65993; -.
DR DisGeNET; 65993; -.
DR GeneCards; MRPS34; -.
DR HGNC; HGNC:16618; MRPS34.
DR HPA; ENSG00000074071; Low tissue specificity.
DR MalaCards; MRPS34; -.
DR MIM; 611994; gene.
DR MIM; 617664; phenotype.
DR neXtProt; NX_P82930; -.
DR OpenTargets; ENSG00000074071; -.
DR PharmGKB; PA31021; -.
DR VEuPathDB; HostDB:ENSG00000074071; -.
DR eggNOG; ENOG502QSI0; Eukaryota.
DR GeneTree; ENSGT00390000008964; -.
DR HOGENOM; CLU_116794_0_0_1; -.
DR InParanoid; P82930; -.
DR OMA; IPKHMEQ; -.
DR OrthoDB; 1475824at2759; -.
DR PhylomeDB; P82930; -.
DR TreeFam; TF320386; -.
DR PathwayCommons; P82930; -.
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; P82930; -.
DR SIGNOR; P82930; -.
DR BioGRID-ORCS; 65993; 470 hits in 1073 CRISPR screens.
DR ChiTaRS; MRPS34; human.
DR GenomeRNAi; 65993; -.
DR Pharos; P82930; Tbio.
DR PRO; PR:P82930; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; P82930; protein.
DR Bgee; ENSG00000074071; Expressed in mucosa of transverse colon and 186 other tissues.
DR ExpressionAtlas; P82930; baseline and differential.
DR Genevisible; P82930; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0005763; C:mitochondrial small ribosomal subunit; ISS:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0003735; F:structural constituent of ribosome; IMP:UniProtKB.
DR GO; GO:0032543; P:mitochondrial translation; IMP:UniProtKB.
DR InterPro; IPR032053; MRP-S34.
DR PANTHER; PTHR28589; PTHR28589; 1.
DR Pfam; PF16053; MRP-S34; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Disease variant; Mitochondrion;
KW Primary mitochondrial disease; Reference proteome; Ribonucleoprotein;
KW Ribosomal protein.
FT CHAIN 1..218
FT /note="28S ribosomal protein S34, mitochondrial"
FT /id="PRO_0000087730"
FT REGION 180..218
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 201..218
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 13
FT /note="E -> K (in COXPD32; significant decrease in protein
FT levels; destabilizes the small ribosomal subunit resulting
FT in impaired mitochondrial translation; dbSNP:rs1131692037)"
FT /evidence="ECO:0000269|PubMed:28777931"
FT /id="VAR_080218"
FT VARIANT 32..218
FT /note="Missing (in COXPD32; significant decrease in protein
FT levels; destabilizes the small ribosomal subunit resulting
FT in impaired mitochondrial translation)"
FT /evidence="ECO:0000269|PubMed:28777931"
FT /id="VAR_080219"
FT VARIANT 33
FT /note="L -> I (in dbSNP:rs11552431)"
FT /id="VAR_052050"
FT VARIANT 100..107
FT /note="Missing (in COXPD32)"
FT /evidence="ECO:0000269|PubMed:28777931"
FT /id="VAR_080220"
SQ SEQUENCE 218 AA; 25650 MW; 58DC48FF63276060 CRC64;
MARKKVRPRL IAELARRVRA LREQLNRPRD SQLYAVDYET LTRPFSGRRL PVRAWADVRR
ESRLLQLLGR LPLFGLGRLV TRKSWLWQHD EPCYWRLTRV RPDYTAQNLD HGKAWGILTF
KGKTESEARE IEHVMYHDWR LVPKHEEEAF TAFTPAPEDS LASVPYPPLL RAMIIAERQK
NGDTSTEEPM LNVQRIRMEP WDYPAKQEDK GRAKGTPV
