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MRPL30

gene
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Also known as MRP-L28RPML28uL30m

Summary

MRPL30 (mitochondrial ribosomal protein L30, HGNC:14036) is a protein-coding gene on chromosome 2q11.2, encoding Large ribosomal subunit protein uL30m (Q8TCC3).

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. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstream lipoyltransferase 1 (LIPT1) gene.

Source: NCBI Gene 51263 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 36 total
  • MANE Select transcript: NM_145212

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14036
Approved symbolMRPL30
Namemitochondrial ribosomal protein L30
Location2q11.2
Locus typegene with protein product
StatusApproved
AliasesMRP-L28, RPML28, uL30m
Ensembl geneENSG00000185414
Ensembl biotypeprotein_coding
OMIM611838
Entrez51263

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000338148, ENST00000409145, ENST00000409841, ENST00000465432, ENST00000473743, ENST00000898902, ENST00000898903, ENST00000898904, ENST00000922468, ENST00000941877

RefSeq mRNA: 1 — MANE Select: NM_145212 NM_145212

CCDS: CCDS2041

Canonical transcript exons

ENST00000338148 — 6 exons

ExonStartEnd
ENSE000022630179918118499181249
ENSE000034593029919557399199561
ENSE000036406279919511699195189
ENSE000037050799919475199194897
ENSE000037059659918817799188257
ENSE000037111999918617799186254

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 97.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.2109 / max 676.6745, expressed in 1815 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
2156440.00411810
215637.20681686

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
tibialis anteriorUBERON:000138597.71gold quality
left ventricle myocardiumUBERON:000656697.32gold quality
pancreatic ductal cellCL:000207996.99gold quality
ileal mucosaUBERON:000033196.58gold quality
deltoidUBERON:000147696.35gold quality
cardiac muscle of right atriumUBERON:000337996.32gold quality
vastus lateralisUBERON:000137996.28gold quality
quadriceps femorisUBERON:000137795.68gold quality
myocardiumUBERON:000234995.62gold quality
gingival epitheliumUBERON:000194995.17gold quality
kidney epitheliumUBERON:000481995.15gold quality
biceps brachiiUBERON:000150794.79gold quality
calcaneal tendonUBERON:000370194.37gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450294.32gold quality
skeletal muscle tissueUBERON:000113494.20gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451194.01gold quality
endothelial cellCL:000011594.00gold quality
amniotic fluidUBERON:000017393.95gold quality
gingivaUBERON:000182893.74gold quality
heart right ventricleUBERON:000208093.70gold quality
muscle tissueUBERON:000238593.67gold quality
hindlimb stylopod muscleUBERON:000425293.53gold quality
esophagus squamous epitheliumUBERON:000692093.49gold quality
palpebral conjunctivaUBERON:000181293.29gold quality
tendonUBERON:000004392.98gold quality
buccal mucosa cellCL:000233692.92gold quality
parietal pleuraUBERON:000240092.51gold quality
tendon of biceps brachiiUBERON:000818892.51gold quality
parotid glandUBERON:000183191.95gold quality
germinal epithelium of ovaryUBERON:000130491.81gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes6.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

124 targeting MRPL30, 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-3613-3P100.0076.367965
HSA-MIR-3163100.0077.238605
HSA-MIR-6740-5P100.0065.64932
HSA-MIR-366299.9973.825684
HSA-MIR-118499.9968.191458
HSA-MIR-428299.9975.366408
HSA-MIR-318599.9968.121959
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-1229-3P99.9766.49906
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-570-3P99.9672.414910
HSA-MIR-590-3P99.9674.346478
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-539-5P99.9370.302855
HSA-MIR-515-5P99.9269.822343
HSA-MIR-519E-5P99.9269.622358
HSA-MIR-10527-5P99.9172.283754
HSA-MIR-4697-3P99.8967.091123
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-30D-3P99.8769.922917
HSA-MIR-30A-3P99.8769.742928
HSA-MIR-30E-3P99.8769.682942
HSA-MIR-394199.8670.542735
HSA-MIR-5582-3P99.8672.484221
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-450399.8571.451869
HSA-MIR-576-5P99.8470.462582
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-3121-3P99.8271.963630

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
mus_musculusMrpl30ENSMUSG00000026087
rattus_norvegicusMrpl30ENSRNOG00000049330
rattus_norvegicusLOC120100611ENSRNOG00000063834

Protein

Protein identifiers

Large ribosomal subunit protein uL30m — Q8TCC3 (reviewed: Q8TCC3)

Alternative names: 39S ribosomal protein L28, mitochondrial, 39S ribosomal protein L30, mitochondrial

All UniProt accessions (2): B8ZZV5, Q8TCC3

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 uL30 family.

Isoforms (3)

UniProt IDNamesCanonical?
Q8TCC3-11yes
Q8TCC3-22
Q8TCC3-33

RefSeq proteins (1): NP_660213* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR005996Ribosomal_uL30_bactFamily
IPR016082Ribosomal_uL30_ferredoxin-likeDomain
IPR036919Ribo_uL30_ferredoxin-like_sfHomologous_superfamily

Pfam: PF00327

UniProt features (20 total): strand 8, helix 4, turn 2, splice variant 2, transit peptide 1, chain 1, sequence variant 1, sequence conflict 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-Q8TCC3-F182.980.61

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: 144 (showing top): GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GARY_CD5_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GCM_NF2, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_RIBOSOMAL_SUBUNIT

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

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

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), large ribosomal subunit (GO:0015934), 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
cytoplasm1
intracellular membrane-bounded organelle1
organelle inner membrane1
mitochondrial membrane1
organellar large ribosomal subunit1
mitochondrial ribosome1
mitochondrial protein-containing complex1
intracellular membraneless organelle1
ribosomal subunit1
protein-containing complex1

Protein interactions and networks

STRING

1948 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MRPL30MRPL16Q9NX20591
MRPL30GADD45GIP1Q8TAE8536
MRPL30DDX49Q9Y6V7530
MRPL30MRPL34Q9BQ48516
MRPL30MRPS15P82914504
MRPL30MRPL11Q9Y3B7501
MRPL30MRPS14O60783501
MRPL30CCDC181Q5TID7490
MRPL30MRPL36Q9P0J6475
MRPL30POGKQ9P215472
MRPL30SNRNP40Q96DI7464
MRPL30EVI5LQ96CN4461
MRPL30AKAP17AQ02040458
MRPL30MRPL40Q9NQ50458
MRPL30MRPS18BQ9Y676452

IntAct

77 interactions, top by confidence:

ABTypeScore
S100BS100A4psi-mi:“MI:0914”(association)0.870
KBTBD7METTL15psi-mi:“MI:0914”(association)0.730
YBX1SSBpsi-mi:“MI:0914”(association)0.710
MALSU1NDUFAB1psi-mi:“MI:0914”(association)0.710
FAM120ASYNCRIPpsi-mi:“MI:0914”(association)0.640
MRPS30GTPBP10psi-mi:“MI:0914”(association)0.640
MRPL50GTPBP10psi-mi:“MI:0914”(association)0.530
FBXW11AHCYL1psi-mi:“MI:0914”(association)0.530
PDGFBDKC1psi-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
MRPL2GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL27MRPL33psi-mi:“MI:0914”(association)0.530
RPL13RRP8psi-mi:“MI:0914”(association)0.530
NDUFAB1MIEF1psi-mi:“MI:0915”(physical association)0.490
Brwd3WDR91psi-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
CUL3PXDNLpsi-mi:“MI:0914”(association)0.350
S100BPLEKHG3psi-mi:“MI:0914”(association)0.350
RPL27AZNF320psi-mi:“MI:0914”(association)0.350
MRPL30GTPBP10psi-mi:“MI:0914”(association)0.350
FAM120AGTPBP10psi-mi:“MI:0914”(association)0.350
LIN28BZNF316psi-mi:“MI:0914”(association)0.350
MRPL33psi-mi:“MI:0914”(association)0.350

BioGRID (215): MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS), MRPL30 (Synthetic Lethality), MRPL30 (Affinity Capture-MS), MRPL30 (Affinity Capture-MS)

ESM2 similar proteins: A6QPQ5, A9X1A9, O95707, P0C2C1, P82664, P82670, P82675, P82915, P82919, P82933, Q08BI9, Q0P5E7, Q0VFH6, Q2KIB9, Q2KID9, Q2KIJ6, Q2TBK2, Q2TBR2, Q3MHY7, Q3SYS0, Q3T040, Q58DQ5, Q58DV5, Q5C9Z4, Q5R7B0, Q5REJ1, Q5REY4, Q5RFM3, Q641X9, Q7Z2W9, Q7Z7H8, Q8N3Z3, Q8TCC3, Q924T2, Q99N85, Q99N87, Q99N94, Q9BSH4, Q9BYD2, Q9BYD6

Diamond homologs: A6LLN1, A7HM34, B7IHW4, C5D3T5, P0C2C1, Q4R6U7, Q58DV5, Q8TCC3, Q9D7N6

SIGNOR signaling

1 interactions.

AEffectBMechanism
MRPL30“form complex”“39S mitochondrial large ribosomal subunit”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 85 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 control2551.2×4e-35
Mitochondrial translation2148.2×7e-29
Mitochondrial translation initiation2246.5×7e-30
Mitochondrial translation elongation2246.5×7e-30
Mitochondrial translation termination2240.3×1e-28
Translation2323.8×2e-24
Peptide chain elongation714.8×2e-05
Viral mRNA Translation714.8×2e-05

GO biological processes:

GO termPartnersFoldFDR
mitochondrial translation2247.2×5e-29
translation2025.4×1e-20
negative regulation of translation716.9×2e-05
cytoplasmic translation716.0×3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance24
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1262 predictions. Top by Δscore:

VariantEffectΔscore
2:99181165:GCTT:Gdonor_gain1.0000
2:99186175:A:AGacceptor_gain1.0000
2:99186176:G:GAacceptor_gain1.0000
2:99186251:ACAGG:Adonor_loss1.0000
2:99186252:CAGG:Cdonor_loss1.0000
2:99186253:AGG:Adonor_loss1.0000
2:99186254:GGT:Gdonor_loss1.0000
2:99186255:GTA:Gdonor_loss1.0000
2:99186256:T:Adonor_loss1.0000
2:99188176:GACT:Gacceptor_gain1.0000
2:99188258:G:GGdonor_gain1.0000
2:99194749:A:AGacceptor_gain1.0000
2:99194749:AG:Aacceptor_gain1.0000
2:99194749:AGGT:Aacceptor_gain1.0000
2:99194750:G:GTacceptor_gain1.0000
2:99194750:GG:Gacceptor_gain1.0000
2:99194750:GGT:Gacceptor_gain1.0000
2:99194750:GGTG:Gacceptor_gain1.0000
2:99194750:GGTGT:Gacceptor_gain1.0000
2:99194869:A:Gdonor_gain1.0000
2:99194895:AAA:Adonor_gain1.0000
2:99194896:AA:Adonor_gain1.0000
2:99194896:AAGT:Adonor_loss1.0000
2:99194896:AAGTA:Adonor_loss1.0000
2:99194897:AG:Adonor_loss1.0000
2:99194898:G:GGdonor_gain1.0000
2:99194898:GT:Gdonor_loss1.0000
2:99194899:T:Adonor_loss1.0000
2:99195167:A:Tdonor_gain1.0000
2:99186171:CCACA:Cacceptor_loss0.9900

AlphaMissense

1050 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:99194824:T:AV69D0.993
2:99195165:T:CL110S0.993
2:99195142:T:AN102K0.990
2:99195142:T:GN102K0.990
2:99195139:G:CK101N0.989
2:99195139:G:TK101N0.989
2:99195174:T:AV113D0.987
2:99194890:T:CL91S0.985
2:99194831:A:CR71S0.984
2:99194831:A:TR71S0.984
2:99195183:T:CL116S0.981
2:99195584:T:CL122S0.981
2:99194817:C:GH67D0.980
2:99194861:G:CW81C0.980
2:99194861:G:TW81C0.980
2:99195132:T:AV99D0.979
2:99195181:T:AH115Q0.979
2:99195181:T:GH115Q0.979
2:99195186:T:AI117K0.979
2:99194859:T:AW81R0.976
2:99194859:T:CW81R0.976
2:99194819:T:AH67Q0.975
2:99194819:T:GH67Q0.975
2:99195134:C:GH100D0.975
2:99195157:T:AN107K0.975
2:99195157:T:GN107K0.975
2:99194851:G:CR78P0.974
2:99188231:T:CF36L0.972
2:99188233:C:AF36L0.972
2:99188233:C:GF36L0.972

dbSNP variants (sampled 300 via entrez): RS1000331959 (2:99186476 G>A), RS1000373733 (2:99183024 C>G), RS1000484307 (2:99198486 A>G,T), RS1000660028 (2:99181910 T>A,C), RS1000713355 (2:99181405 C>G), RS1000878095 (2:99188107 A>G), RS1000958619 (2:99198852 C>G), RS1000970612 (2:99194288 T>G), RS1001083660 (2:99192354 C>T), RS1001230088 (2:99191745 A>G), RS1001266553 (2:99188491 T>G), RS1001303782 (2:99191893 C>G,T), RS1001308161 (2:99194710 G>A), RS1001567564 (2:99179427 G>A), RS1001607199 (2:99198777 C>T)

Disease associations

OMIM: gene MIM:611838 | 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
GCST001241_13Bipolar disorder3.000000e-06

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
sodium arseniteincreases abundance, increases expression, decreases expression2
methylmercuric chloridedecreases expression1
bisphenol Aaffects expression1
kojic aciddecreases expression1
trichostatin Adecreases expression1
arseniteaffects binding, increases reaction1
diallyl trisulfidedecreases expression1
di-n-butylphosphoric acidaffects expression1
bisphenol Sincreases expression1
Bortezomibdecreases expression1
Arsenic Trioxideincreases expression1
Vorinostatincreases expression1
Acetaminophenaffects cotreatment, increases expression1
Arsenicincreases abundance, increases expression1
Cadmiumincreases abundance, increases expression1
Demecolcinedecreases expression1
Estradiolincreases expression1
Formaldehydedecreases expression1
Lipopolysaccharidesaffects cotreatment, increases expression1
Niclosamidedecreases expression1
Testosteronedecreases expression1
Thiramdecreases expression1
Valproic Acidincreases expression1
Vincristinedecreases expression1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression1
Antirheumatic Agentsincreases expression1
Cadmium Chlorideincreases abundance, increases expression1
Acrylamidedecreases 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.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
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BioBTree
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Sources 75

This page pulls from 75 datasets indexed by BioBTree:

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