MRPL57

gene
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Also known as mL63

Summary

MRPL57 (mitochondrial ribosomal protein L57, HGNC:14514) is a protein-coding gene on chromosome 13q12.11, encoding Large ribosomal subunit protein mL63 (Q9BQC6). It is a selective cancer dependency (DepMap: 82.4% 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 protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y.

Source: NCBI Gene 78988 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 12 total
  • Cancer dependency (DepMap): dependent in 82.4% of screened cell lines
  • MANE Select transcript: NM_024026

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14514
Approved symbolMRPL57
Namemitochondrial ribosomal protein L57
Location13q12.11
Locus typegene with protein product
StatusApproved
AliasesmL63
Ensembl geneENSG00000173141
Ensembl biotypeprotein_coding
OMIM611997
Entrez78988

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000309594, ENST00000861772, ENST00000861773, ENST00000861774, ENST00000912375, ENST00000912376

RefSeq mRNA: 1 — MANE Select: NM_024026 NM_024026

CCDS: CCDS9296

Canonical transcript exons

ENST00000309594 — 2 exons

ExonStartEnd
ENSE000012007682117691221179084
ENSE000012953012117665821176717

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 99.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 114.3029 / max 606.2834, expressed in 1826 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
134335110.88811826
1343343.00771499
1343330.4047214
1343320.00241

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
endothelial cellCL:000011599.09gold quality
gluteal muscleUBERON:000200098.56gold quality
cerebellar vermisUBERON:000472098.37gold quality
nephron tubuleUBERON:000123198.27gold quality
parotid glandUBERON:000183198.21gold quality
cervix squamous epitheliumUBERON:000692298.21gold quality
thymusUBERON:000237098.10gold quality
renal medullaUBERON:000036298.08gold quality
triceps brachiiUBERON:000150998.01gold quality
spermCL:000001997.97gold quality
heart right ventricleUBERON:000208097.91gold quality
male germ cellCL:000001597.88gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450297.77gold quality
pigmented layer of retinaUBERON:000178297.75gold quality
biceps brachiiUBERON:000150797.58gold quality
corpus epididymisUBERON:000435997.55gold quality
epithelium of bronchusUBERON:000203197.53gold quality
bronchial epithelial cellCL:000232897.51gold quality
bronchusUBERON:000218597.51gold quality
body of tongueUBERON:001187697.40gold quality
ventral tegmental areaUBERON:000269197.37gold quality
type B pancreatic cellCL:000016997.35gold quality
caput epididymisUBERON:000435897.34gold quality
renal glomerulusUBERON:000007497.27gold quality
cardia of stomachUBERON:000116297.27gold quality
nippleUBERON:000203097.26gold quality
inferior vagus X ganglionUBERON:000536397.21gold quality
metanephric glomerulusUBERON:000473697.13gold quality
diaphragmUBERON:000110397.07gold quality
pylorusUBERON:000116696.99gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-HCAD-4yes64.13
E-ANND-3yes16.13
E-MTAB-9067yes10.48
E-GEOD-100618no1249.13
E-MTAB-8911no179.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting MRPL57, 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-656-3P100.0072.152788
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-4425100.0067.591049
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-126-5P100.0072.713180
HSA-MIR-3924100.0072.092394
HSA-MIR-150-5P99.9966.691976
HSA-MIR-806899.9873.852376
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-1250-3P99.9670.044038
HSA-MIR-590-3P99.9674.346478
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-10527-5P99.9172.283754
HSA-MIR-130599.9171.433443
HSA-MIR-129-5P99.8870.263273
HSA-MIR-30A-3P99.8769.742928
HSA-MIR-30D-3P99.8769.922917
HSA-MIR-30E-3P99.8769.682942
HSA-MIR-430799.8270.453374
HSA-MIR-6752-3P99.7266.711587
HSA-MIR-4802-3P99.7270.131273
HSA-MIR-33A-3P99.7070.273362
HSA-MIR-378A-5P99.6566.331311
HSA-MIR-6832-5P99.5864.821132
HSA-MIR-6751-5P99.5664.991145
HSA-MIR-186-3P99.5166.241685
HSA-MIR-409-3P99.5066.331192
HSA-MIR-4735-5P99.4368.491780
HSA-MIR-584-3P99.3567.691082

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 82.4% of screened cell lines.

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriomrpl57ENSDARG00000007285
mus_musculusMrpl57ENSMUSG00000021967
rattus_norvegicusMrpl57ENSRNOG00000081514

Protein

Protein identifiers

Large ribosomal subunit protein mL63Q9BQC6 (reviewed: Q9BQC6)

Alternative names: Mitochondrial ribosomal protein 63, Mitochondrial ribosomal protein L57, Ribosomal protein 63, mitochondrial

All UniProt accessions (1): Q9BQC6

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 mitochondrion-specific ribosomal protein mL63 family.

RefSeq proteins (1): NP_076931* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR016576Ribosomal_mL63Family

Pfam: PF14978

UniProt features (9 total): helix 5, strand 2, chain 1, turn 1

Structure

Experimental structures (PDB)

85 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
8K2AELECTRON MICROSCOPY2.9
8OITELECTRON MICROSCOPY2.9
9PGLELECTRON MICROSCOPY2.9
9PGFELECTRON MICROSCOPY2.93
6VMIELECTRON MICROSCOPY2.96
6VLZELECTRON MICROSCOPY2.97
7QI6ELECTRON MICROSCOPY2.98
9PSMELECTRON MICROSCOPY2.98

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9BQC6-F192.370.77

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: 139 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, MODULE_205, WANG_LMO4_TARGETS_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, NUYTTEN_EZH2_TARGETS_DN

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

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

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
mitochondrion1
translation1
mitochondrial gene expression1
peptidyltransferase activity1
translational initiation1
translational elongation1
translational termination1
macromolecule biosynthetic process1
protein metabolic process1
protein biosynthetic process1
structural molecule activity1
ribosome1
binding1
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

962 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MRPL57MRPL1Q9BYD6477
MRPL57CCDC70Q6NSX1457
MRPL57MRPL58Q14197440
MRPL57SLC25A21Q9BQT8412
MRPL57MRPL54Q6P161407
MRPL57MRPL34Q9BQ48400
MRPL57MRPL52Q86TS9393
MRPL57MRPL43Q8N983393
MRPL57TMEM168Q9H0V1388
MRPL57SLC25A26Q70HW3387
MRPL57SLC25A29Q8N8R3384
MRPL57MRPL51Q4U2R6371
MRPL57MRPS15P82914366
MRPL57ARMCX2Q7L311353
MRPL57CHCHD1Q96BP2328

IntAct

121 interactions, top by confidence:

ABTypeScore
KBTBD7METTL15psi-mi:“MI:0914”(association)0.730
MRPS30GTPBP10psi-mi:“MI:0914”(association)0.640
LYRM7NDUFAB1psi-mi:“MI:0914”(association)0.640
MRPL57CIDEBpsi-mi:“MI:0915”(physical association)0.560
LEUTXMRPL57psi-mi:“MI:0915”(physical association)0.560
MRPL50GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL10ZZEF1psi-mi:“MI:0914”(association)0.530
MRPL42GATCpsi-mi:“MI:0914”(association)0.530
MRPL28MRPL3psi-mi:“MI:0914”(association)0.530
MRPL41MRPL3psi-mi:“MI:0914”(association)0.530
KBTBD7PLD2psi-mi:“MI:0914”(association)0.530
MRPL2GTPBP10psi-mi:“MI:0914”(association)0.530
FBXW11AHCYL1psi-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
NDUFAB1MIEF1psi-mi:“MI:0915”(physical association)0.490
Sars1PARP10psi-mi:“MI:0914”(association)0.350
MRPL1MRPL43psi-mi:“MI:0914”(association)0.350
MRPL4ZSWIM8psi-mi:“MI:0914”(association)0.350
MRPL12psi-mi:“MI:0914”(association)0.350
RPS8RRP8psi-mi:“MI:0914”(association)0.350
HNRNPA1HNRNPRpsi-mi:“MI:0914”(association)0.350
MRPL39PTCD1psi-mi:“MI:0914”(association)0.350
FBXW11PTCD1psi-mi:“MI:0914”(association)0.350

BioGRID (135): MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Two-hybrid), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS)

ESM2 similar proteins: A1TYV1, A3M7E7, A4SHF6, A7HUX6, A7IDK1, A8IM57, A9HHS1, A9L948, B0VBX6, B0VUE9, B1VFG4, B2HVM2, B2ICM8, B4RYA0, B6INQ0, B7GZ34, B7I4A2, B8EK30, B8H4M5, C1D0Z8, G2TRQ8, O14187, P00129, P16135, P90993, Q02950, Q15N51, Q1GDB7, Q22438, Q28GD1, Q29PG4, Q2G8J9, Q2RVH2, Q4U2R6, Q5BJJ8, Q5FNB8, Q5ZKG1, Q61SE7, Q66KZ3, Q6CAD1

Diamond homologs: Q3ZC04, Q6PBR7, Q9BQC6, Q9CQF8

SIGNOR signaling

1 interactions.

AEffectBMechanism
MRPL57“form complex”“39S mitochondrial large ribosomal subunit”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 109 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 control3049.8×1e-42
Mitochondrial translation2648.3×1e-36
Mitochondrial translation initiation2746.3×2e-37
Mitochondrial translation elongation2746.3×2e-37
Mitochondrial translation termination2740.1×1e-35
Translation2823.5×4e-30
Peptide chain elongation813.7×3e-06
Viral mRNA Translation813.7×3e-06

GO biological processes:

GO termPartnersFoldFDR
mitochondrial translation2951.9×1e-40
translation2324.4×1e-23
cytoplasmic translation815.3×7e-06
regulation of alternative mRNA splicing, via spliceosome512.6×4e-03
negative regulation of translation510.1×7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance9
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

102 predictions. Top by Δscore:

VariantEffectΔscore
13:21176715:CAGG:Cdonor_loss1.0000
13:21176716:AGG:Adonor_loss1.0000
13:21176717:GGT:Gdonor_loss1.0000
13:21176718:GTG:Gdonor_loss1.0000
13:21176713:GGCAG:Gdonor_gain0.9900
13:21176714:GCAG:Gdonor_gain0.9900
13:21176714:GCAGG:Gdonor_gain0.9900
13:21176718:G:GGdonor_gain0.9900
13:21176719:T:Gdonor_loss0.9800
13:21176910:A:AGacceptor_gain0.9800
13:21176911:G:GGacceptor_gain0.9800
13:21176907:CGCA:Cacceptor_loss0.9700
13:21176908:GCA:Gacceptor_loss0.9700
13:21176909:CAGGC:Cacceptor_loss0.9700
13:21176911:G:GTacceptor_loss0.9700
13:21176911:GGC:Gacceptor_gain0.9700
13:21176715:CAG:Cdonor_gain0.9400
13:21176907:C:CAacceptor_gain0.9400
13:21176716:AG:Adonor_gain0.9300
13:21176717:GG:Gdonor_gain0.9300
13:21176911:GGCA:Gacceptor_gain0.9200
13:21176910:AG:Aacceptor_gain0.8800
13:21176911:GG:Gacceptor_gain0.8800
13:21176911:GGCAC:Gacceptor_gain0.8300
13:21176914:ACCAT:Aacceptor_gain0.7300
13:21176720:GAG:Gdonor_loss0.7200
13:21176715:C:Tdonor_gain0.7100
13:21176909:CA:Cacceptor_gain0.6800
13:21176906:CCGCA:Cacceptor_gain0.6700
13:21176908:GC:Gacceptor_gain0.6600

AlphaMissense

668 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
13:21177043:G:CA43P0.943
13:21176972:G:AG19E0.933
13:21177217:T:AW101R0.925
13:21177217:T:CW101R0.925
13:21176965:T:AW17R0.920
13:21176965:T:CW17R0.920
13:21177051:C:AN45K0.920
13:21177051:C:GN45K0.920
13:21176972:G:TG19V0.905
13:21176976:G:CK20N0.899
13:21176976:G:TK20N0.899
13:21177064:A:CS50R0.892
13:21177066:C:AS50R0.892
13:21177066:C:GS50R0.892
13:21176967:G:CW17C0.888
13:21176967:G:TW17C0.888
13:21177029:G:CR38P0.881
13:21176971:G:TG19W0.880
13:21177219:G:CW101C0.879
13:21177219:G:TW101C0.879
13:21177042:G:CE42D0.872
13:21177042:G:TE42D0.872
13:21176971:G:AG19R0.867
13:21176971:G:CG19R0.867
13:21177090:G:CQ58H0.855
13:21177090:G:TQ58H0.855
13:21177062:T:CL49P0.850
13:21177141:G:CK75N0.849
13:21177141:G:TK75N0.849
13:21177127:T:CF71L0.846

dbSNP variants (sampled 300 via entrez): RS1000055454 (13:21174738 A>T), RS1000835557 (13:21177917 C>T), RS1001108435 (13:21177333 C>G,T), RS1001287785 (13:21177699 G>A), RS1001517484 (13:21177331 G>C), RS1002275073 (13:21177030 C>G,T), RS1002551593 (13:21176318 G>A,T), RS1003227511 (13:21178635 ACATGGCGAAACCC>A), RS1004702542 (13:21178710 C>A,T), RS1005231739 (13:21176591 C>A,T), RS1005278643 (13:21174946 T>C), RS1005959117 (13:21178273 C>T), RS1006660465 (13:21176808 G>A,C), RS1006746976 (13:21179184 A>T), RS1007694154 (13:21175779 T>C)

Disease associations

OMIM: gene MIM:611997 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

StudyTraitp-value
GCST002932_6Manganese levels6.000000e-06
GCST007672_173-month functional outcome in ischaemic stroke (modified Rankin score)5.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0009603stroke outcome severity measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

ChemicalActions (top 5)PubMed papers
methylmercuric chloridedecreases expression1
bisphenol Aincreases expression1
sodium arsenitedecreases expression1
cyclic 3’,5’-uridine monophosphateaffects binding1
di-n-butylphosphoric acidaffects expression1
corosolic aciddecreases expression1
K 7174decreases expression1
Resveratrolaffects cotreatment, increases expression1
Arsenic Trioxideincreases expression1
Coumestrolincreases expression1
Doxorubicindecreases expression1
Ethyl Methanesulfonatedecreases expression1
Gasolineaffects cotreatment, decreases expression, increases abundance1
Methyl Methanesulfonatedecreases expression1
Plant Extractsaffects cotreatment, increases expression1
Polycyclic Aromatic Hydrocarbonsincreases abundance, affects cotreatment, decreases expression1
Ribonucleotidesaffects binding1
Smokedecreases expression1
Thiramdecreases expression1
Urethanedecreases expression1
Valproic Acidincreases expression1
Vinblastineaffects response to substance1
Paclitaxelaffects response to substance1
Sodium Seleniteincreases expression1
Copper Sulfatedecreases expression1
Topotecanaffects response to substance1
Acrylamidedecreases expression1
Particulate Matteraffects cotreatment, decreases expression, increases abundance1

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.