MRPL24

gene
On this page

Also known as MRP-L18uL24m

Summary

MRPL24 (mitochondrial ribosomal protein L24, HGNC:14037) is a protein-coding gene on chromosome 1q23.1, encoding Large ribosomal subunit protein uL24m (Q96A35). It is a selective cancer dependency (DepMap: 38.5% 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 which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein.

Source: NCBI Gene 79590 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): mitochondrial disease (Limited, ClinGen)
  • GWAS associations: 1
  • Clinical variants (ClinVar): 47 total
  • Cancer dependency (DepMap): dependent in 38.5% of screened cell lines
  • MANE Select transcript: NM_145729

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14037
Approved symbolMRPL24
Namemitochondrial ribosomal protein L24
Location1q23.1
Locus typegene with protein product
StatusApproved
AliasesMRP-L18, uL24m
Ensembl geneENSG00000143314
Ensembl biotypeprotein_coding
OMIM611836
Entrez79590

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 34 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000361531, ENST00000368211, ENST00000412846, ENST00000420938, ENST00000434558, ENST00000478899, ENST00000858113, ENST00000858114, ENST00000858115, ENST00000858116, ENST00000858117, ENST00000858118, ENST00000858119, ENST00000858120, ENST00000858121, ENST00000858122, ENST00000858123, ENST00000858124, ENST00000858125, ENST00000858126, ENST00000858127, ENST00000858128, ENST00000858129, ENST00000915500, ENST00000915501, ENST00000915502, ENST00000915503, ENST00000915504, ENST00000915505, ENST00000915506, ENST00000915507, ENST00000915508, ENST00000966308, ENST00000966309, ENST00000966310

RefSeq mRNA: 2 — MANE Select: NM_145729 NM_024540, NM_145729

CCDS: CCDS1155

Canonical transcript exons

ENST00000361531 — 6 exons

ExonStartEnd
ENSE00000959208156738343156738438
ENSE00001054758156738522156738764
ENSE00001343250156741012156741088
ENSE00001434575156738031156738134
ENSE00003547363156737303156737534
ENSE00003602731156737646156737776

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 97.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.0940 / max 164.1041, expressed in 1798 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
1519520.63851792
151963.38691557
151970.068716

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
body of pancreasUBERON:000115097.81gold quality
apex of heartUBERON:000209897.56gold quality
hindlimb stylopod muscleUBERON:000425297.39gold quality
right adrenal glandUBERON:000123397.37gold quality
left adrenal gland cortexUBERON:003582597.25gold quality
islet of LangerhansUBERON:000000697.19gold quality
left adrenal glandUBERON:000123497.17gold quality
right adrenal gland cortexUBERON:003582797.14gold quality
adrenal cortexUBERON:000123597.06gold quality
muscle of legUBERON:000138396.93gold quality
right lobe of liverUBERON:000111496.90gold quality
gastrocnemiusUBERON:000138896.88gold quality
mucosa of transverse colonUBERON:000499196.87gold quality
pancreasUBERON:000126496.79gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451196.78silver quality
adrenal glandUBERON:000236996.68gold quality
calcaneal tendonUBERON:000370196.68gold quality
heart left ventricleUBERON:000208496.66gold quality
cardiac ventricleUBERON:000208296.57gold quality
muscle organUBERON:000163096.46gold quality
lower esophagus muscularis layerUBERON:003583396.43gold quality
lower esophagusUBERON:001347396.42gold quality
rectumUBERON:000105296.39gold quality
muscle layer of sigmoid colonUBERON:003580596.39gold quality
right uterine tubeUBERON:000130296.37gold quality
lateral globus pallidusUBERON:000247696.19gold quality
C1 segment of cervical spinal cordUBERON:000646996.17gold quality
heartUBERON:000094896.09gold quality
esophagogastric junction muscularis propriaUBERON:003584196.08gold quality
substantia nigra pars reticulataUBERON:000196695.97gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes12.73
E-CURD-112no3.84

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 38.5% of screened cell lines.

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriomrpl24ENSDARG00000019222
mus_musculusMrpl24ENSMUSG00000019710
rattus_norvegicusmrpl24ENSRNOG00000022234
drosophila_melanogastermRpL24FBGN0031651
caenorhabditis_elegansmrpl-24WBGENE00019076

Protein

Protein identifiers

Large ribosomal subunit protein uL24mQ96A35 (reviewed: Q96A35)

Alternative names: 39S ribosomal protein L24, mitochondrial

All UniProt accessions (4): Q96A35, X6RHI2, X6RIR5, X6RJ73

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 universal ribosomal protein uL24 family.

RefSeq proteins (2): NP_078816, NP_663781* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003256Ribosomal_uL24Family
IPR005824KOWDomain
IPR005825Ribosomal_uL24_CSConserved_site
IPR008991Translation_prot_SH3-like_sfHomologous_superfamily
IPR014722Rib_uL2_dom2Homologous_superfamily
IPR041988Ribosomal_uL24_KOWDomain
IPR057264Ribosomal_uL24_CDomain

Pfam: PF00467, PF17136

UniProt features (30 total): strand 14, helix 5, sequence conflict 5, turn 2, transit peptide 1, chain 1, domain 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-Q96A35-F188.920.64

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): 24

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: 163 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_MITOCHONDRIAL_TRANSLATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GGAMTNNNNNTCCY_UNKNOWN, AACWWCAANK_UNKNOWN, GOBP_TRANSLATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, TGCTGAY_UNKNOWN, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, KMCATNNWGGA_UNKNOWN, GOCC_MITOCHONDRIAL_ENVELOPE, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, RYTTCCTG_ETS2_B

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

GO Molecular Function (2): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735)

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), 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
nucleic acid binding1
structural molecule activity1
ribosome1
cytoplasm1
intracellular membrane-bounded organelle1
organelle inner membrane1
mitochondrial membrane1
organellar large ribosomal subunit1
mitochondrial ribosome1
mitochondrial protein-containing complex1
intracellular membraneless organelle1
protein-containing complex1

Protein interactions and networks

STRING

3311 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MRPL24MRPL17Q9NRX2753
MRPL24MRPL16Q9NX20717
MRPL24MRPL13Q9BYD1705
MRPL24MRPL11Q9Y3B7689
MRPL24MRPL4Q9BYD3645
MRPL24MRPS14O60783644
MRPL24MRPL36Q9P0J6628
MRPL24MRPL20Q9BYC9626
MRPL24MRPL19P49406611
MRPL24MRPL33O75394604
MRPL24MRPL9Q9BYD2604
MRPL24MRPL21Q7Z2W9570
MRPL24MRPL1Q9BYD6564
MRPL24MRPS9P82933559
MRPL24MRPS18CQ9Y3D5558

IntAct

156 interactions, top by confidence:

ABTypeScore
MRPL37HSPD1psi-mi:“MI:0914”(association)0.710
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
MRPS30GTPBP10psi-mi:“MI:0914”(association)0.640
LIN28AIGF2BP3psi-mi:“MI:0914”(association)0.640
NPKPNA6psi-mi:“MI:0914”(association)0.550
CENPECLASP2psi-mi:“MI:0914”(association)0.530
MRPL50GTPBP10psi-mi:“MI:0914”(association)0.530
RPL18NOP56psi-mi:“MI:0914”(association)0.530
MRPL10ZZEF1psi-mi:“MI:0914”(association)0.530
MRPL42GATCpsi-mi:“MI:0914”(association)0.530
RPL6MRPS14psi-mi:“MI:0914”(association)0.530
MRPL28MRPL3psi-mi:“MI:0914”(association)0.530
MRPL41MRPL3psi-mi:“MI:0914”(association)0.530
MRPL2GTPBP10psi-mi:“MI:0914”(association)0.530
ZC3HAV1KHNYNpsi-mi:“MI:0914”(association)0.530
MRPL13GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL18GTPBP10psi-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
Ybx1MRPS18Bpsi-mi:“MI:0915”(physical association)0.400
Kctd5psi-mi:“MI:0914”(association)0.350
TnksSDC2psi-mi:“MI:0914”(association)0.350

BioGRID (275): MRPL24 (Affinity Capture-RNA), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Affinity Capture-MS), MRPL24 (Co-fractionation), MRPL24 (Co-fractionation), MRPL24 (Co-fractionation)

ESM2 similar proteins: A3BN26, A6QPQ5, A9X1A9, O95707, P02385, P08429, P82915, P82916, Q0VC21, Q13084, Q1RP77, Q29MA5, Q2HJJ1, Q2KIB9, Q2TA12, Q2TBK2, Q3SYS0, Q3T197, Q498T4, Q5E996, Q5E9N5, Q5M882, Q5R7B0, Q5RAT0, Q5T653, Q60649, Q641X9, Q66H47, Q6DH02, Q6GPM4, Q7XTG7, Q8GS60, Q8VDP2, Q96A35, Q99N85, Q99N94, Q9BYD6, Q9CPT5, Q9CPX7, Q9CQ06

Diamond homologs: A0ALV7, A0JZ73, A0PM76, A0QL01, A0QSG0, A0R8J1, A1KGJ6, A1R8T4, A1T4R7, A1UBP9, A3PVD6, A4FPL4, A4TEC6, A5U0A1, A6U870, A7GK31, A8EZK5, A8LC45, A9VP88, A9WSU6, B1HMW9, B1MGD6, B1W3Z6, B1YGW1, B2GDV8, B2GJ04, B2HCT2, B3CT16, B3WAK6, B7HJ59, B7HQV5, B7IT30, B7JKD0, B8DB19, B8HCZ5, B8ZSA8, B9DM36, B9IZK5, C1AL49, C1ET50

SIGNOR signaling

1 interactions.

AEffectBMechanism
MRPL24“form complex”“39S mitochondrial large ribosomal subunit”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 155 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 control3538.4×2e-45
Mitochondrial translation3036.9×2e-38
Mitochondrial translation initiation3236.2×9e-41
Mitochondrial translation elongation3236.2×9e-41
Mitochondrial translation termination3231.4×2e-38
Translation3418.8×6e-33
Peptide chain elongation1314.7×1e-10
Viral mRNA Translation1314.7×1e-10

GO biological processes:

GO termPartnersFoldFDR
mitochondrial translation3443.1×9e-45
translation3123.2×2e-31
cytoplasmic translation1317.6×1e-10
regulation of alternative mRNA splicing, via spliceosome712.5×2e-04
ribosomal small subunit biogenesis711.6×3e-04
negative regulation of translation811.4×9e-05
mRNA processing95.2×6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance34
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1295 predictions. Top by Δscore:

VariantEffectΔscore
1:156737535:C:CCacceptor_gain1.0000
1:156737707:C:CAdonor_gain1.0000
1:156738130:TAATG:Tacceptor_gain1.0000
1:156738132:ATG:Aacceptor_gain1.0000
1:156738132:ATGC:Aacceptor_loss1.0000
1:156738133:TG:Tacceptor_gain1.0000
1:156738134:GC:Gacceptor_loss1.0000
1:156738135:C:CCacceptor_gain1.0000
1:156738135:C:Tacceptor_loss1.0000
1:156738141:A:Tacceptor_gain1.0000
1:156738340:TACT:Tdonor_loss1.0000
1:156738341:A:ACdonor_gain1.0000
1:156738341:A:Cdonor_loss1.0000
1:156738342:C:CAdonor_gain1.0000
1:156738342:CT:Cdonor_gain1.0000
1:156738342:CTG:Cdonor_gain1.0000
1:156738342:CTGT:Cdonor_gain1.0000
1:156738389:TGA:Tdonor_gain1.0000
1:156738434:TCCAC:Tacceptor_gain1.0000
1:156738435:CCAC:Cacceptor_gain1.0000
1:156738435:CCACC:Cacceptor_gain1.0000
1:156738436:CAC:Cacceptor_gain1.0000
1:156738436:CACC:Cacceptor_gain1.0000
1:156738437:AC:Aacceptor_gain1.0000
1:156738437:ACC:Aacceptor_loss1.0000
1:156738438:CC:Cacceptor_gain1.0000
1:156738439:C:CCacceptor_gain1.0000
1:156738439:CTGT:Cacceptor_loss1.0000
1:156737530:GCCAT:Gacceptor_gain0.9900
1:156737531:CCAT:Cacceptor_gain0.9900

AlphaMissense

1388 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:156738055:A:TV120D0.972
1:156738526:T:GD60A0.966
1:156738527:C:GD60H0.961
1:156737720:G:AS147F0.959
1:156738526:T:AD60V0.957
1:156737521:G:CD176E0.952
1:156737521:G:TD176E0.952
1:156737523:C:GD176H0.952
1:156737721:A:GS147P0.952
1:156737720:G:TS147Y0.951
1:156737723:A:TV146D0.947
1:156738437:A:TV62E0.947
1:156738365:A:TV86E0.945
1:156738526:T:CD60G0.943
1:156737727:G:CR145G0.941
1:156737749:A:CF137L0.941
1:156737749:A:TF137L0.941
1:156737751:A:GF137L0.941
1:156737757:A:GW135R0.941
1:156737757:A:TW135R0.941
1:156738395:A:TV76E0.939
1:156737522:T:GD176A0.932
1:156738127:C:GR96P0.931
1:156738525:G:CD60E0.931
1:156738525:G:TD60E0.931
1:156738070:A:GL115S0.930
1:156738043:T:CD124G0.929
1:156738374:C:GR83P0.923
1:156737505:C:GA182P0.917
1:156737726:C:GR145P0.912

dbSNP variants (sampled 300 via entrez): RS1000389800 (1:156740947 G>A), RS1000464108 (1:156741091 G>A,C), RS1000659619 (1:156737792 GGT>G), RS1000713410 (1:156744009 C>T), RS1001011810 (1:156738048 A>C), RS1001253811 (1:156741351 G>C), RS1001594924 (1:156739402 T>C), RS1002256206 (1:156740411 G>A), RS1002666524 (1:156740542 A>G,T), RS1003295500 (1:156744611 G>A,T), RS1004074828 (1:156741525 G>A), RS1004673046 (1:156743083 G>A), RS1004694108 (1:156737969 T>A,C,G), RS1005001875 (1:156743398 A>T), RS1005301136 (1:156740612 G>A)

Disease associations

OMIM: gene MIM:611836 | disease phenotypes:

GenCC curated gene-disease

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

DiseaseClassificationInheritance
mitochondrial diseaseLimitedAR

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST010002_368Refractive error7.000000e-38

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects cotreatment, decreases expression, increases abundance3
Acetaminophendecreases expression, affects expression, affects cotreatment3
Tretinoinaffects cotreatment, decreases expression3
bisphenol Adecreases expression2
Arsenicdecreases expression, increases abundance2
Valproic Acidaffects expression, increases expression2
aristolochic acid Idecreases expression1
TAK-243increases sumoylation1
arseniteaffects binding, increases reaction1
gossypol acetic aciddecreases expression1
beta-methylcholineaffects expression1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic acidincreases expression1
corosolic aciddecreases expression1
K 7174decreases expression1
erucylphospho-N,N,N-trimethylpropylammoniumdecreases expression1
bisphenol Saffects expression1
jinfukangincreases expression1
(+)-JQ1 compounddecreases expression1
Arsenic Trioxideincreases expression1
Benzo(a)pyreneincreases methylation1
Cisplatindecreases expression1
Enzyme Inhibitorsdecreases activity, increases O-linked glycosylation1
Ethyl Methanesulfonatedecreases expression1
Lipopolysaccharidesaffects cotreatment, decreases expression1
Methyl Methanesulfonatedecreases expression1
Ribonucleotidesaffects binding1
Thiramdecreases expression1
Tobacco Smoke Pollutiondecreases methylation1
Urethanedecreases expression1

Clinical trials (associated diseases)

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