MRPL34

gene
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Also known as L34mtMGC2633MGC24974bL34m

Summary

MRPL34 (mitochondrial ribosomal protein L34, HGNC:14488) is a protein-coding gene on chromosome 19p13.11, encoding Large ribosomal subunit protein bL34m (Q9BQ48). It is a selective cancer dependency (DepMap: 87.5% of cell lines).

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein.

Source: NCBI Gene 64981 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 29 total
  • Cancer dependency (DepMap): dependent in 87.5% of screened cell lines
  • MANE Select transcript: NM_023937

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14488
Approved symbolMRPL34
Namemitochondrial ribosomal protein L34
Location19p13.11
Locus typegene with protein product
StatusApproved
AliasesL34mt, MGC2633, MGC24974, bL34m
Ensembl geneENSG00000130312
Ensembl biotypeprotein_coding
OMIM611840
Entrez64981

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000252602, ENST00000594999, ENST00000595444, ENST00000597996, ENST00000600434, ENST00000602206

RefSeq mRNA: 6 — MANE Select: NM_023937 NM_001382342, NM_001382343, NM_001400072, NM_001400073, NM_001400074, NM_023937

CCDS: CCDS12356, CCDS92555

Canonical transcript exons

ENST00000252602 — 2 exons

ExonStartEnd
ENSE000009516541730616617306843
ENSE000012692531730587217305957

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 98.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 85.8013 / max 353.2552, expressed in 1827 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
17448981.80841827
1744842.22671042
1744850.7573431
1744880.4959298
1744860.4332251
1744870.079849

Top tissues by expression

279 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
mucosa of transverse colonUBERON:000499198.12gold quality
hindlimb stylopod muscleUBERON:000425298.01gold quality
right adrenal glandUBERON:000123397.72gold quality
right adrenal gland cortexUBERON:003582797.65gold quality
right lobe of liverUBERON:000111497.58gold quality
apex of heartUBERON:000209897.56gold quality
left adrenal glandUBERON:000123497.49gold quality
left adrenal gland cortexUBERON:003582597.46gold quality
heart left ventricleUBERON:000208497.22gold quality
right atrium auricular regionUBERON:000663197.22gold quality
gastrocnemiusUBERON:000138897.14gold quality
cardiac ventricleUBERON:000208297.09gold quality
adrenal cortexUBERON:000123597.02gold quality
transverse colonUBERON:000115796.99gold quality
muscle layer of sigmoid colonUBERON:003580596.90gold quality
lower esophagus muscularis layerUBERON:003583396.76gold quality
lower esophagusUBERON:001347396.75gold quality
muscle of legUBERON:000138396.74gold quality
esophagogastric junction muscularis propriaUBERON:003584196.69gold quality
body of stomachUBERON:000116196.64gold quality
left testisUBERON:000453396.59gold quality
right testisUBERON:000453496.48gold quality
metanephros cortexUBERON:001053396.45gold quality
cardiac atriumUBERON:000208196.42gold quality
adenohypophysisUBERON:000219696.37gold quality
heartUBERON:000094896.33gold quality
right coronary arteryUBERON:000162596.31gold quality
left coronary arteryUBERON:000162695.97gold quality
adrenal glandUBERON:000236995.89gold quality
caudate nucleusUBERON:000187395.82gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting MRPL34, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-684499.8270.692423
HSA-MIR-430699.7270.503630
HSA-MIR-516A-3P99.4667.961378
HSA-MIR-516B-3P99.4667.961378
HSA-MIR-7162-5P99.4668.081368
HSA-MIR-185-5P99.3568.602497
HSA-MIR-464499.3569.122514
HSA-MIR-511-5P98.9770.942268
HSA-MIR-4764-5P98.8865.53894
HSA-MIR-367-5P98.8467.18902
HSA-MIR-26B-3P98.7167.491102
HSA-MIR-2115-5P98.6668.071191
HSA-MIR-432-5P98.0068.13989
HSA-MIR-510-5P97.6665.82916

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 87.5% of screened cell lines.

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriomrpl34ENSDARG00000092954
mus_musculusMrpl34ENSMUSG00000034880
rattus_norvegicusMrpl34ENSRNOG00000017552

Protein

Protein identifiers

Large ribosomal subunit protein bL34mQ9BQ48 (reviewed: Q9BQ48)

Alternative names: 39S ribosomal protein L34, mitochondrial

All UniProt accessions (3): Q9BQ48, M0R093, M0R226

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.

Subcellular location. Mitochondrion.

Similarity. Belongs to the bacterial ribosomal protein bL34 family.

RefSeq proteins (6): NP_001369271, NP_001369272, NP_001387001, NP_001387002, NP_001387003, NP_076426* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000271Ribosomal_bL34Family

Pfam: PF00468

UniProt features (6 total): helix 3, transit peptide 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

86 structures, top 30 by resolution.

PDBMethodResolution (Å)
7OF0ELECTRON MICROSCOPY2.2
7QI4ELECTRON MICROSCOPY2.21
8RRIELECTRON MICROSCOPY2.4
8QU5ELECTRON MICROSCOPY2.42
9OLFELECTRON MICROSCOPY2.46
7OF7ELECTRON MICROSCOPY2.5
7PO4ELECTRON MICROSCOPY2.56
6ZM6ELECTRON MICROSCOPY2.59
7O9MELECTRON MICROSCOPY2.6
7OF6ELECTRON MICROSCOPY2.6
9CN3ELECTRON MICROSCOPY2.62
7QI5ELECTRON MICROSCOPY2.63
7OF2ELECTRON MICROSCOPY2.7
7OF3ELECTRON MICROSCOPY2.7
7OF4ELECTRON MICROSCOPY2.7
8QU1ELECTRON MICROSCOPY2.74
9PR4ELECTRON MICROSCOPY2.77
9PRAELECTRON MICROSCOPY2.83
8ANYELECTRON MICROSCOPY2.85
6ZM5ELECTRON MICROSCOPY2.89
7QH7ELECTRON MICROSCOPY2.89
7ODRELECTRON MICROSCOPY2.9
7OF5ELECTRON MICROSCOPY2.9
8K2AELECTRON MICROSCOPY2.9
8OITELECTRON MICROSCOPY2.9
9PGLELECTRON MICROSCOPY2.9
9PGFELECTRON MICROSCOPY2.93
6VMIELECTRON MICROSCOPY2.96
6VLZELECTRON MICROSCOPY2.97
7QI6ELECTRON MICROSCOPY2.98

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9BQ48-F180.520.47

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 71

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-5368286Mitochondrial translation initiation
R-HSA-5389840Mitochondrial translation elongation
R-HSA-5419276Mitochondrial translation termination
R-HSA-9937383Mitochondrial ribosome-associated quality control
R-HSA-392499Metabolism of proteins
R-HSA-5368287Mitochondrial translation
R-HSA-72766Translation

MSigDB gene sets: 167 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, AACYNNNNTTCCS_UNKNOWN, TGACCTY_ERR1_Q2, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, CHNG_MULTIPLE_MYELOMA_HYPERPLOID_UP, BURTON_ADIPOGENESIS_5, BERENJENO_TRANSFORMED_BY_RHOA_UP, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME

GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)

GO Molecular Function (1): structural constituent of ribosome (GO:0003735)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ribosome (GO:0005761), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Mitochondrial translation4
Translation1
Metabolism of proteins1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
peptidyltransferase activity1
translational initiation1
translational elongation1
translational termination1
macromolecule biosynthetic process1
protein metabolic process1
protein biosynthetic process1
mitochondrion1
translation1
mitochondrial gene expression1
structural molecule activity1
ribosome1
cytoplasm1
intracellular membrane-bounded organelle1
organelle inner membrane1
mitochondrial membrane1
organellar ribosome1
mitochondrial matrix1
organellar large ribosomal subunit1
mitochondrial ribosome1
mitochondrial protein-containing complex1
intracellular membraneless organelle1
protein-containing complex1

Protein interactions and networks

STRING

1802 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MRPL34MRPL43Q8N983581
MRPL34MRPL20Q9BYC9557
MRPL34MRPL24Q96A35540
MRPL34MRPS15P82914535
MRPL34CFAP97D1B2RV13531
MRPL34MRPL41Q8IXM3529
MRPL34MRPL13Q9BYD1524
MRPL34MRPL30Q8TCC3516
MRPL34ABHD8Q96I13510
MRPL34MRPS14O60783503
MRPL34MRPS9P82933473
MRPL34MRPL17Q9NRX2469
MRPL34MRPL36Q9P0J6463
MRPL34MRPL46Q9H2W6452
MRPL34MRPL49Q13405447

IntAct

55 interactions, top by confidence:

ABTypeScore
MRPS30GTPBP10psi-mi:“MI:0914”(association)0.640
MACROH2A2PPM1Gpsi-mi:“MI:0914”(association)0.530
MRPL42GATCpsi-mi:“MI:0914”(association)0.530
MRPL41MRPL3psi-mi:“MI:0914”(association)0.530
MRPL2GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL13GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL18GTPBP10psi-mi:“MI:0914”(association)0.530
RPL19ZBTB24psi-mi:“MI:0914”(association)0.530
ABT1ZNF316psi-mi:“MI:0914”(association)0.530
MRPL27MRPL33psi-mi:“MI:0914”(association)0.530
NDUFAB1MIEF1psi-mi:“MI:0915”(physical association)0.490
MRPL50MRPL43psi-mi:“MI:0914”(association)0.350
MRPL9MRPL43psi-mi:“MI:0914”(association)0.350
MRPL1MRPL43psi-mi:“MI:0914”(association)0.350
ZNF316psi-mi:“MI:0914”(association)0.350
ZC3H3ANKHD1psi-mi:“MI:0914”(association)0.350
MRPL34IPO5psi-mi:“MI:0914”(association)0.350
MRPL35IPO5psi-mi:“MI:0914”(association)0.350
TRA2AGAPDHSpsi-mi:“MI:0914”(association)0.350
ATAD3ATMEM223psi-mi:“MI:0914”(association)0.350
KLF15COL6A1psi-mi:“MI:0914”(association)0.350
MAPTSHTN1psi-mi:“MI:0914”(association)0.350
MRPL30GTPBP10psi-mi:“MI:0914”(association)0.350

BioGRID (89): MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Reconstituted Complex), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), MRPL34 (Affinity Capture-MS), RANBP6 (Affinity Capture-MS)

ESM2 similar proteins: A1L1P7, A6ZRW2, A8NN94, B2RZ39, C1BJQ3, F5HIJ5, G2TRP2, O14464, O74464, O94379, O94690, P25348, P25873, P31165, P32344, P36520, P36526, P38064, P42797, P49391, P53921, P82244, Q01607, Q04598, Q04907, Q0E959, Q1K4P1, Q1K7P9, Q1LWG3, Q21454, Q4R319, Q4V7Q1, Q5RB32, Q5WRL1, Q61JI9, Q6H611, Q7S4E7, Q7SB98, Q84JG5, Q84WZ8

Diamond homologs: A0LLH0, A0M0A2, A1AV47, A1BK00, A1S1G8, A1T0M6, A1WWE1, A2RCG1, A3CQP8, A3N3N0, A4SH23, A5G9V7, A5IIK6, A5UD74, A5UID2, A6KXS6, A6VR64, A8AUP4, A8NN94, A8ZRZ2, A9KBT4, A9NE64, B0BTL8, B0TAK6, B0U6I3, B0URU6, B1I8U6, B2FPA7, B2IAR9, B2IMG7, B3H308, B4RDV7, B4SHH3, B4U0T5, B5E2I5, B5EGY1, B5XJP0, B6J8U4, B6YQA4, B8F7T1

SIGNOR signaling

1 interactions.

AEffectBMechanism
MRPL34“form complex”“39S mitochondrial large ribosomal subunit”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 49 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Mitochondrial ribosome-associated quality control2481.9×3e-41
Mitochondrial translation2180.3×7e-36
Mitochondrial translation initiation2277.5×3e-37
Mitochondrial translation elongation2277.5×3e-37
Mitochondrial translation termination2267.1×7e-36
Translation2136.2×4e-28

GO biological processes:

GO termPartnersFoldFDR
mitochondrial translation2381.5×2e-37
translation1633.5×9e-19

Disease & clinical

Clinical variants and AI predictions

ClinVar

29 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance28
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1514 predictions. Top by Δscore:

VariantEffectΔscore
19:17292827:AGGAT:Aacceptor_gain1.0000
19:17292828:GGAT:Gacceptor_gain1.0000
19:17292830:ATCT:Aacceptor_loss1.0000
19:17292831:TCT:Tacceptor_loss1.0000
19:17292832:C:CCacceptor_gain1.0000
19:17292852:AAGG:Adonor_loss1.0000
19:17292853:AGGTA:Adonor_loss1.0000
19:17292854:GGTA:Gdonor_loss1.0000
19:17292855:GTA:Gdonor_loss1.0000
19:17292856:T:Gdonor_loss1.0000
19:17294307:T:TAdonor_gain1.0000
19:17294327:AT:Adonor_gain1.0000
19:17294328:T:Cdonor_gain1.0000
19:17300852:TTA:Tdonor_loss1.0000
19:17300854:A:ACdonor_gain1.0000
19:17300854:AC:Adonor_gain1.0000
19:17300854:ACC:Adonor_gain1.0000
19:17300855:C:Adonor_loss1.0000
19:17300855:C:CCdonor_gain1.0000
19:17300855:CC:Cdonor_gain1.0000
19:17300855:CCC:Cdonor_gain1.0000
19:17300855:CCCG:Cdonor_gain1.0000
19:17300855:CCCGT:Cdonor_gain1.0000
19:17292829:GAT:Gacceptor_gain0.9900
19:17292830:AT:Aacceptor_gain0.9900
19:17294285:TA:Tdonor_loss0.9900
19:17294287:C:Gdonor_loss0.9900
19:17294323:A:ACdonor_gain0.9900
19:17294324:C:CCdonor_gain0.9900
19:17294327:A:ACdonor_gain0.9900

AlphaMissense

578 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:17306278:C:AR60S0.986
19:17306296:T:AW66R0.980
19:17306296:T:CW66R0.980
19:17306277:A:CK59N0.977
19:17306277:A:TK59N0.977
19:17306371:A:CS91R0.976
19:17306373:C:AS91R0.976
19:17306373:C:GS91R0.976
19:17306298:G:CW66C0.975
19:17306298:G:TW66C0.975
19:17306258:A:CY53S0.974
19:17306257:T:CY53H0.973
19:17306258:A:GY53C0.972
19:17306359:C:AR87S0.970
19:17306360:G:CR87P0.970
19:17306283:G:CK61N0.968
19:17306283:G:TK61N0.968
19:17306257:T:GY53D0.967
19:17306305:C:AR69S0.966
19:17306345:G:CR82P0.963
19:17306249:G:AG50E0.961
19:17306290:C:GH64D0.960
19:17306374:C:GH92D0.960
19:17306279:G:CR60P0.959
19:17306294:G:AG65D0.957
19:17306342:G:CR81P0.957
19:17306291:A:CH64P0.954
19:17306376:T:AH92Q0.952
19:17306376:T:GH92Q0.952
19:17306294:G:TG65V0.951

dbSNP variants (sampled 300 via entrez): RS1000101771 (19:17303356 C>G,T), RS1000392743 (19:17291692 T>C), RS1000445298 (19:17291424 G>A), RS1000533433 (19:17307178 C>G), RS1000605234 (19:17297394 C>T), RS1001048620 (19:17301212 G>A,C,T), RS1001053746 (19:17292194 C>T), RS1001164710 (19:17302877 G>C), RS1001664500 (19:17297350 C>A,T), RS1002377043 (19:17291556 T>C), RS1002444525 (19:17291319 G>A,T), RS1002558378 (19:17293216 C>T), RS1002652876 (19:17299888 C>A), RS1002871148 (19:17304054 G>A), RS1002898696 (19:17301276 G>A)

Disease associations

OMIM: gene MIM:611840 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST007394_2Mitochondrial DNA copy number1.000000e-14

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0006312mitochondrial DNA measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, increases expression2
Acetaminophendecreases expression, affects cotreatment2
aristolochic acid Iincreases expression1
bisphenol Aincreases expression, affects cotreatment1
glycidyl methacrylatedecreases expression1
di-n-butylphosphoric acidaffects expression1
corosolic aciddecreases expression1
K 7174decreases expression1
erucylphospho-N,N,N-trimethylpropylammoniumdecreases expression1
abrinedecreases expression1
Temozolomideincreases expression1
Sunitinibincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Atrazinedecreases expression1
Benzo(a)pyreneaffects methylation1
Dexamethasoneaffects cotreatment, increases expression1
Indomethacinaffects cotreatment, increases expression1
Lipopolysaccharidesaffects cotreatment, decreases expression1
Methyl Methanesulfonatedecreases expression1
Ribonucleotidesaffects binding1
Seleniumincreases expression1
Smokedecreases expression1
Thiramdecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Valproic Acidincreases expression1
Vitamin Eincreases expression1
Xylitoldecreases expression1
1-Methyl-3-isobutylxanthineaffects cotreatment, increases expression1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression1
Cyclosporinedecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.