MRPL52

gene
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Also known as mL52

Summary

MRPL52 (mitochondrial ribosomal protein L52, HGNC:16655) is a protein-coding gene on chromosome 14q11.2, encoding Large ribosomal subunit protein mL52 (Q86TS9).

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 has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis.

Source: NCBI Gene 122704 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 34 total
  • MANE Select transcript: NM_180982

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:16655
Approved symbolMRPL52
Namemitochondrial ribosomal protein L52
Location14q11.2
Locus typegene with protein product
StatusApproved
AliasesmL52
Ensembl geneENSG00000172590
Ensembl biotypeprotein_coding
OMIM611856
Entrez122704

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 11 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000311892, ENST00000355151, ENST00000397496, ENST00000397505, ENST00000432849, ENST00000461594, ENST00000553482, ENST00000553711, ENST00000553965, ENST00000555345, ENST00000555536, ENST00000556214, ENST00000556465, ENST00000556654, ENST00000556840, ENST00000557221, ENST00000557543, ENST00000923455

RefSeq mRNA: 7 — MANE Select: NM_180982 NM_001318870, NM_178336, NM_180982, NM_181304, NM_181305, NM_181306, NM_181307

CCDS: CCDS41917, CCDS41918, CCDS81791, CCDS9575, CCDS9576

Canonical transcript exons

ENST00000397496 — 5 exons

ExonStartEnd
ENSE000018912282283417222835037
ENSE000035688172283005322830110
ENSE000035780432283018722830254
ENSE000035916922283341822833482
ENSE000036633062282988722829940

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 98.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 161.9663 / max 843.6880, expressed in 1828 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
138822161.96631828

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
mucosa of transverse colonUBERON:000499198.32gold quality
apex of heartUBERON:000209898.26gold quality
lower esophagus mucosaUBERON:003583498.05gold quality
body of stomachUBERON:000116197.79gold quality
body of pancreasUBERON:000115097.78gold quality
heart left ventricleUBERON:000208497.76gold quality
cardiac ventricleUBERON:000208297.60gold quality
right lobe of thyroid glandUBERON:000111997.48gold quality
esophagus mucosaUBERON:000246997.46gold quality
left lobe of thyroid glandUBERON:000112097.44gold quality
right atrium auricular regionUBERON:000663197.43gold quality
metanephros cortexUBERON:001053397.43gold quality
skin of abdomenUBERON:000141697.31gold quality
left coronary arteryUBERON:000162697.31gold quality
C1 segment of cervical spinal cordUBERON:000646997.25gold quality
left adrenal gland cortexUBERON:003582597.25gold quality
right lobe of liverUBERON:000111497.24gold quality
left adrenal glandUBERON:000123497.21gold quality
skin of legUBERON:000151197.19gold quality
olfactory segment of nasal mucosaUBERON:000538697.09gold quality
muscle layer of sigmoid colonUBERON:003580597.07gold quality
esophagusUBERON:000104397.06gold quality
right adrenal glandUBERON:000123397.06gold quality
ascending aortaUBERON:000149697.03gold quality
heartUBERON:000094897.00gold quality
thoracic aortaUBERON:000151596.99gold quality
cardiac atriumUBERON:000208196.99gold quality
gastrocnemiusUBERON:000138896.94gold quality
granulocyteCL:000009496.92gold quality
lower esophagusUBERON:001347396.91gold 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)

20 targeting MRPL52, 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-6876-5P100.0067.682126
HSA-MIR-34A-5P99.9971.211784
HSA-MIR-449A99.9971.051776
HSA-MIR-34C-5P99.9770.451577
HSA-MIR-449B-5P99.9770.261580
HSA-MIR-570-3P99.9672.414910
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-335-3P99.9373.364958
HSA-MIR-7154-5P99.6970.521900
HSA-MIR-520A-5P99.3566.721632
HSA-MIR-525-5P99.3566.851615
HSA-MIR-504-3P99.3067.181745
HSA-MIR-3064-5P99.2666.131497
HSA-MIR-3085-3P99.2666.161490
HSA-MIR-6504-5P99.2665.951487
HSA-MIR-392698.9569.261438
HSA-MIR-471898.5568.61814
HSA-MIR-122-5P97.2364.921024
HSA-MIR-6735-3P96.1063.81600
HSA-MIR-425995.6865.25582

Literature-anchored findings (GeneRIF, showing 1)

  • HIF-1-induced mitochondrial ribosome protein L52: a mechanism for breast cancer cellular adaptation and metastatic initiation in response to hypoxia. (PMID:34158854)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriomrpl52ENSDARG00000090568
mus_musculusMrpl52ENSMUSG00000010406
rattus_norvegicusMrpl52ENSRNOG00000039297
drosophila_melanogastermRpL52FBGN0033208

Protein

Protein identifiers

Large ribosomal subunit protein mL52Q86TS9 (reviewed: Q86TS9)

Alternative names: 39S ribosomal protein L52, mitochondrial

All UniProt accessions (5): Q86TS9, G3V3U6, G3V4H9, G3V4J1, G5E9P5

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. mL52 connects the central protuberance to the body of the ribosome.

Subcellular location. Mitochondrion.

Similarity. Belongs to the mitochondrion-specific ribosomal protein mL52 family.

Isoforms (4)

UniProt IDNamesCanonical?
Q86TS9-11yes
Q86TS9-22
Q86TS9-33
Q86TS9-44

RefSeq proteins (7): NP_001305799, NP_848026, NP_851313, NP_851821, NP_851822, NP_851823, NP_851824 (=MANE)

Domains & families (InterPro)

IDNameType
IPR034596Ribosomal_mL52Family

Pfam: PF18699

UniProt features (17 total): splice variant 4, sequence variant 3, helix 3, strand 2, transit peptide 1, chain 1, sequence conflict 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

73 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
9PR4ELECTRON MICROSCOPY2.77
9PRAELECTRON MICROSCOPY2.83
8ANYELECTRON MICROSCOPY2.85
6ZM5ELECTRON MICROSCOPY2.89
7QH7ELECTRON MICROSCOPY2.89
7ODRELECTRON MICROSCOPY2.9
7OF5ELECTRON MICROSCOPY2.9
8OITELECTRON MICROSCOPY2.9
9PGLELECTRON MICROSCOPY2.9
9PGFELECTRON MICROSCOPY2.93
7QI6ELECTRON MICROSCOPY2.98
9PSMELECTRON MICROSCOPY2.98
8QSJELECTRON MICROSCOPY3
9UWHELECTRON MICROSCOPY3
9PGIELECTRON MICROSCOPY3.02

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q86TS9-F186.300.70

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: 147 (showing top): SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MARTINEZ_RB1_TARGETS_DN, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, MCCABE_HOXC6_TARGETS_CANCER_DN, GOCC_MITOCHONDRIAL_ENVELOPE, AAAGGGA_MIR204_MIR211, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, AFFAR_YY1_TARGETS_DN, CETS1P54_01, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME

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

GO Molecular Function (2): structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), 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
structural molecule activity1
ribosome1
binding1
nuclear lumen1
cellular anatomical structure1
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

1132 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MRPL52MRPL55Q7Z7F7721
MRPL52MRPS30Q9NP92638
MRPL52RPL26P61254586
MRPL52RPL6Q02878585
MRPL52MRPS21P82921578
MRPL52MRPL1Q9BYD6557
MRPL52MRPL54Q6P161536
MRPL52GADD45GIP1Q8TAE8524
MRPL52MRPL38Q96DV4521
MRPL52MRPS18AQ9NVS2519
MRPL52MRPL4Q9BYD3485
MRPL52MRPL33O75394476
MRPL52MRPL24Q96A35473
MRPL52KGD4P82909457
MRPL52MRPL51Q4U2R6456

IntAct

94 interactions, top by confidence:

ABTypeScore
MRPS30GTPBP10psi-mi:“MI:0914”(association)0.640
MRPL38MRPL52psi-mi:“MI:0915”(physical association)0.560
MRPL50GTPBP10psi-mi:“MI:0914”(association)0.530
RPS2MPHOSPH10psi-mi:“MI:0914”(association)0.530
ZNF2MPHOSPH10psi-mi:“MI:0914”(association)0.530
MRPL2GTPBP10psi-mi:“MI:0914”(association)0.530
HNRNPA1PTCD1psi-mi:“MI:0914”(association)0.530
MRPL13GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL18GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL27MRPL33psi-mi:“MI:0914”(association)0.530
NDUFAB1MIEF1psi-mi:“MI:0915”(physical association)0.490
KIF2CWDR62psi-mi:“MI:0914”(association)0.350
Cul1GPS1psi-mi:“MI:0914”(association)0.350
Pcgf1SCAMP3psi-mi:“MI:0914”(association)0.350
MRPL50MRPL43psi-mi:“MI:0914”(association)0.350
MRPL9MRPL43psi-mi:“MI:0914”(association)0.350
MRPL1MRPL43psi-mi:“MI:0914”(association)0.350
ALYREFpsi-mi:“MI:0914”(association)0.350
MRPL4ZSWIM8psi-mi:“MI:0914”(association)0.350
MRPL12psi-mi:“MI:0914”(association)0.350
FGF8ANKHD1psi-mi:“MI:0914”(association)0.350
RRS1MPHOSPH10psi-mi:“MI:0914”(association)0.350
LUC7LCASC3psi-mi:“MI:0914”(association)0.350
HNRNPA1HNRNPRpsi-mi:“MI:0914”(association)0.350
rl36a_rl36l_humanIPO5psi-mi:“MI:0914”(association)0.350

BioGRID (213): MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS), MRPL52 (Affinity Capture-MS)

ESM2 similar proteins: A1A4P4, A1CH36, A2ALW5, A5AAL8, B0BN56, O42911, O70279, P0C2B7, P58468, P83565, Q0CLE8, Q1ECT8, Q290P4, Q2GVC2, Q3SZ86, Q4G0I0, Q4V7Q1, Q5B4U6, Q5BJW9, Q5RFR4, Q5XJW2, Q61733, Q6RUT7, Q753F1, Q7SDU5, Q7SHR9, Q80ZS3, Q86TS9, Q8BGX2, Q8BK72, Q8CHP5, Q8SPE7, Q8TAE8, Q8VD26, Q8WUQ7, Q96AN5, Q96DF8, Q9BRP8, Q9BSF4, Q9BYN8

Diamond homologs: P0C2B7, Q290P4, Q4V7Q1, Q7JWG9, Q86TS9, Q9D0Y8

SIGNOR signaling

1 interactions.

AEffectBMechanism
MRPL52“form complex”“39S mitochondrial large ribosomal subunit”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 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 control2550.3×3e-35
Mitochondrial translation2249.6×5e-31
Mitochondrial translation initiation2347.8×5e-32
Mitochondrial translation elongation2347.8×5e-32
Mitochondrial translation termination2341.4×1e-30
Translation2626.4×1e-29
SARS-CoV-1 modulates host translation machinery525.3×1e-05
Peptide chain elongation1020.8×9e-10

GO biological processes:

GO termPartnersFoldFDR
mitochondrial translation2450.9×6e-33
translation1923.8×3e-19
cytoplasmic translation1022.6×2e-09
regulation of alternative mRNA splicing, via spliceosome514.9×2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance21
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

660 predictions. Top by Δscore:

VariantEffectΔscore
14:22830111:G:GGdonor_gain1.0000
14:22830251:GCGG:Gdonor_gain1.0000
14:22830252:CGGGT:Cdonor_loss1.0000
14:22830253:GGGTA:Gdonor_loss1.0000
14:22830255:G:Tdonor_loss1.0000
14:22830256:T:Gdonor_loss1.0000
14:22833470:G:GTdonor_gain1.0000
14:22833483:G:GGdonor_gain1.0000
14:22833516:G:GTdonor_gain1.0000
14:22833521:A:Tdonor_gain1.0000
14:22830183:ACAG:Aacceptor_gain0.9900
14:22830253:GG:Gdonor_gain0.9900
14:22830254:GG:Gdonor_gain0.9900
14:22830255:G:GGdonor_gain0.9900
14:22830471:A:Gdonor_gain0.9900
14:22833480:GCA:Gdonor_gain0.9900
14:22833517:A:Tdonor_gain0.9900
14:22833520:G:GTdonor_gain0.9900
14:22834170:A:AGacceptor_gain0.9900
14:22834171:G:GGacceptor_gain0.9900
14:22834247:G:GTdonor_gain0.9900
14:22834258:G:GTdonor_gain0.9900
14:22830182:CACA:Cacceptor_loss0.9800
14:22830184:CAG:Cacceptor_loss0.9800
14:22830185:A:AGacceptor_gain0.9800
14:22830185:AGG:Aacceptor_loss0.9800
14:22830186:G:GGacceptor_gain0.9800
14:22830186:G:Tacceptor_loss0.9800
14:22830186:GGCA:Gacceptor_gain0.9800
14:22830514:G:GTdonor_gain0.9800

AlphaMissense

769 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:22830242:T:AW49R0.972
14:22830242:T:CW49R0.972
14:22830244:G:CW49C0.965
14:22830244:G:TW49C0.965
14:22834179:T:AV77D0.965
14:22833458:A:CR66S0.956
14:22833458:A:TR66S0.956
14:22834176:G:CR76P0.946
14:22830245:T:CS50P0.937
14:22830243:G:TW49L0.932
14:22833430:C:AA57D0.931
14:22830241:C:AD48E0.922
14:22830241:C:GD48E0.922
14:22834190:T:CS81P0.919
14:22830243:G:CW49S0.913
14:22834188:T:CL80P0.908
14:22834285:A:CK112N0.904
14:22834285:A:TK112N0.904
14:22833424:G:CR55P0.893
14:22830239:G:CD48H0.892
14:22833457:G:CR66T0.892
14:22833480:G:CA74P0.886
14:22830240:A:TD48V0.885
14:22830219:G:AG41E0.882
14:22830104:G:CR28P0.873
14:22833454:G:CR65P0.861
14:22833440:G:AM60I0.860
14:22833440:G:CM60I0.860
14:22833440:G:TM60I0.860
14:22830218:G:TG41W0.858

dbSNP variants (sampled 300 via entrez): RS1001458828 (14:22835029 T>C), RS1001496993 (14:22828876 G>A,T), RS1001525876 (14:22829490 C>T), RS1001614349 (14:22835450 ATTC>A), RS1001864427 (14:22831069 T>C), RS1001902490 (14:22830876 T>G), RS1002127335 (14:22835090 G>A,C,T), RS1002388542 (14:22830608 A>G), RS1005400061 (14:22833572 T>C), RS1005549084 (14:22834762 C>T), RS1005561287 (14:22828544 C>T), RS1005695367 (14:22828943 G>T), RS1005893736 (14:22829944 A>C), RS1005996176 (14:22834483 T>C), RS1006032571 (14:22830211 C>T)

Disease associations

OMIM: gene MIM:611856 | 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
GCST010483_2Cardiovascular death, myocardial infarction or stroke in response to clopidogrel treatment5.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0006919cardiovascular event measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Adecreases expression, affects cotreatment3
Acetaminophenaffects cotreatment, decreases expression2
Air Pollutantsaffects expression, increases abundance, decreases expression2
Valproic Acidaffects expression, increases expression2
Particulate Matterdecreases expression, increases abundance2
aristolochic acid Iincreases expression1
bisphenol Faffects cotreatment, decreases expression1
beta-lapachoneincreases expression1
arseniteaffects binding, increases reaction1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
N-benzyloxycarbonylprolylprolinalincreases expression1
beta-methylcholineaffects expression1
di-n-butylphosphoric acidaffects expression1
ICG 001decreases expression1
Sunitinibincreases expression1
Vehicle Emissionsdecreases expression, increases abundance1
Dexamethasoneaffects cotreatment, decreases expression1
Indomethacinaffects cotreatment, decreases expression1
Lipopolysaccharidesaffects cotreatment, decreases expression1
Ozoneincreases abundance, affects expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoindecreases expression1
Urethanedecreases expression1
1-Methyl-3-isobutylxanthineaffects cotreatment, decreases expression1
Cyclosporineincreases expression1
Aflatoxin B1increases methylation1
Cadmium Chlorideincreases expression1
Lactic Aciddecreases expression1
Acrylamideincreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): stroke disorder