MRPL14

gene
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Also known as RPML32MRP-L32uL14m

Summary

MRPL14 (mitochondrial ribosomal protein L14, HGNC:14279) is a protein-coding gene on chromosome 6p21.1, encoding Large ribosomal subunit protein uL14m (Q6P1L8). Forms part of 2 intersubunit bridges in the assembled ribosome. It is a selective cancer dependency (DepMap: 45.5% of cell lines).

This nuclear gene encodes a protein component of the 39S subunit of the mitochondrial ribosome. A pseudogene of this gene is found on chromosome 17.

Source: NCBI Gene 64928 — RefSeq curated summary.

At a glance

  • GWAS associations: 6
  • Clinical variants (ClinVar): 45 total
  • Cancer dependency (DepMap): dependent in 45.5% of screened cell lines
  • MANE Select transcript: NM_032111

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14279
Approved symbolMRPL14
Namemitochondrial ribosomal protein L14
Location6p21.1
Locus typegene with protein product
StatusApproved
AliasesRPML32, MRP-L32, uL14m
Ensembl geneENSG00000180992
Ensembl biotypeprotein_coding
OMIM611827
Entrez64928

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 24 protein_coding

ENST00000372014, ENST00000872326, ENST00000872327, ENST00000872328, ENST00000872329, ENST00000872330, ENST00000872331, ENST00000872332, ENST00000872333, ENST00000872334, ENST00000872335, ENST00000872336, ENST00000872337, ENST00000930436, ENST00000930437, ENST00000930438, ENST00000930439, ENST00000930440, ENST00000930441, ENST00000930442, ENST00000930443, ENST00000930444, ENST00000967823, ENST00000967824

RefSeq mRNA: 6 — MANE Select: NM_032111 NM_001318767, NM_001318768, NM_001318769, NM_001318770, NM_001318771, NM_032111

CCDS: CCDS34460

Canonical transcript exons

ENST00000372014 — 3 exons

ExonStartEnd
ENSE000014567024411345144114209
ENSE000014567114411654144116629
ENSE000014567144412734444127452

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 97.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.9830 / max 120.1378, expressed in 1817 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
7373821.61841814
737395.57641668
737371.7883675

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
tibialis anteriorUBERON:000138597.99gold quality
quadriceps femorisUBERON:000137797.79gold quality
biceps brachiiUBERON:000150797.78gold quality
vastus lateralisUBERON:000137997.70gold quality
deltoidUBERON:000147697.68gold quality
upper arm skinUBERON:000426397.62gold quality
gastrocnemiusUBERON:000138897.61gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451197.45gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450297.23gold quality
skeletal muscle tissueUBERON:000113497.01gold quality
muscle of legUBERON:000138396.96gold quality
gingival epitheliumUBERON:000194996.84gold quality
hindlimb stylopod muscleUBERON:000425296.49gold quality
adult organismUBERON:000702396.38gold quality
mucosa of transverse colonUBERON:000499196.30gold quality
body of tongueUBERON:001187696.03gold quality
cartilage tissueUBERON:000241895.93gold quality
gingivaUBERON:000182895.83gold quality
muscle tissueUBERON:000238595.72gold quality
nasal cavity epitheliumUBERON:000538495.63gold quality
left ventricle myocardiumUBERON:000656695.27gold quality
mammalian vulvaUBERON:000099795.20gold quality
upper lobe of lungUBERON:000894894.82gold quality
upper lobe of left lungUBERON:000895294.81gold quality
tongueUBERON:000172394.80gold quality
islet of LangerhansUBERON:000000694.70gold quality
lower lobe of lungUBERON:000894994.33gold quality
apex of heartUBERON:000209894.24gold quality
palpebral conjunctivaUBERON:000181294.21gold quality
right lobe of liverUBERON:000111494.15gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

ExperimentMarker?Max mean expression
E-MTAB-8410yes660.71
E-HCAD-1yes92.69
E-MTAB-7316yes19.72
E-MTAB-8271yes7.61
E-GEOD-130148yes7.01
E-MTAB-10137no318.45
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting MRPL14, 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-3646100.0073.565283
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-430299.8967.941187
HSA-MIR-990299.8969.152250
HSA-MIR-472999.6972.184233
HSA-MIR-875-3P99.6369.472548
HSA-MIR-150-3P99.4370.51920
HSA-MIR-1212598.5967.541044
HSA-MIR-3130-5P98.1466.00711
HSA-MIR-448398.0964.121642
HSA-MIR-4482-5P97.5365.68598
HSA-MIR-7106-3P97.3365.33644
HSA-MIR-10398-5P97.1264.941051
HSA-MIR-5579-5P96.3268.54730

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 45.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

  • C7orf30 promotes incorporation of MRPL14 into the mitochondrial large ribosomal subunit. (PMID:23171548)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriomrpl14ENSDARG00000068886
mus_musculusMrpl14ENSMUSG00000023939
rattus_norvegicusMrpl14ENSRNOG00000019734
drosophila_melanogastermRpL14FBGN0040389

Paralogs (1): C1orf53 (ENSG00000203724)

Protein

Protein identifiers

Large ribosomal subunit protein uL14mQ6P1L8 (reviewed: Q6P1L8)

Alternative names: 39S ribosomal protein L14, mitochondrial, 39S ribosomal protein L32, mitochondrial

All UniProt accessions (1): Q6P1L8

UniProt curated annotations — full annotation on UniProt →

Function. Forms part of 2 intersubunit bridges in the assembled ribosome. Upon binding to MALSU1 intersubunit bridge formation is blocked, preventing ribosome formation and repressing translation.

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. Interacts with MALSU1.

Subcellular location. Mitochondrion.

Similarity. Belongs to the universal ribosomal protein uL14 family.

RefSeq proteins (6): NP_001305696, NP_001305697, NP_001305698, NP_001305699, NP_001305700, NP_115487* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000218Ribosomal_uL14Family
IPR036853Ribosomal_uL14_sfHomologous_superfamily

Pfam: PF00238

UniProt features (15 total): strand 10, helix 3, transit peptide 1, chain 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-Q6P1L8-F185.380.76

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: 104 (showing top): AREB6_03, GOBP_MITOCHONDRIAL_TRANSLATION, TGACCTY_ERR1_Q2, CAGCTG_AP4_Q5, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, HEN1_01, GOCC_MITOCHONDRIAL_ENVELOPE, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, YGCGYRCGC_UNKNOWN

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

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

1186 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MRPL14MALSU1Q96EH3621
MRPL14MRPL11Q9Y3B7522
MRPL14C2orf15Q8WU43480
MRPL14DAP3P51398467
MRPL14ZNF239Q16600447
MRPL14MRPL44Q9H9J2434
MRPL14MRPS18BQ9Y676418
MRPL14MRPS27Q92552418
MRPL14LINC03040Q8N319398
MRPL14TMEM217Q8N7C4391
MRPL14MTG1Q9BT17390
MRPL14TMEM217BA0A494BZU4383
MRPL14MTERF4Q7Z6M4380
MRPL14MRPS22P82650373
MRPL14MRPL36Q9P0J6371

IntAct

70 interactions, top by confidence:

ABTypeScore
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
MALSU1NDUFAB1psi-mi:“MI:0914”(association)0.710
MRPS30GTPBP10psi-mi:“MI:0914”(association)0.640
NPKPNA6psi-mi:“MI:0914”(association)0.550
MRPL50GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL10ZZEF1psi-mi:“MI:0914”(association)0.530
MRPL41MRPL3psi-mi:“MI:0914”(association)0.530
MRPL18GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL2GTPBP10psi-mi:“MI:0914”(association)0.530
COX15SLC25A3psi-mi:“MI:0914”(association)0.530
NDUFAB1MIEF1psi-mi:“MI:0915”(physical association)0.490
SDC1ILVBLpsi-mi:“MI:0915”(physical association)0.400
Brwd3WDR91psi-mi:“MI:0914”(association)0.350
ETS2ANKS6psi-mi:“MI:0914”(association)0.350
WRAP53STK24psi-mi:“MI:0914”(association)0.350
MRPL50MRPL43psi-mi:“MI:0914”(association)0.350
MRPL9MRPL43psi-mi:“MI:0914”(association)0.350
GOLT1Bpsi-mi:“MI:0914”(association)0.350
MRPL1MRPL43psi-mi:“MI:0914”(association)0.350
NPHNRNPDLpsi-mi:“MI:0914”(association)0.350
NPKPNA6psi-mi:“MI:0914”(association)0.350
NPTRIM66psi-mi:“MI:0914”(association)0.350
PDHA1psi-mi:“MI:0914”(association)0.350
CUL3PXDNLpsi-mi:“MI:0914”(association)0.350
LRRK2psi-mi:“MI:0914”(association)0.350
MRPL39PTCD1psi-mi:“MI:0914”(association)0.350
MRPL47MRPL33psi-mi:“MI:0914”(association)0.350

BioGRID (163): MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Co-fractionation), MRPL14 (Co-fractionation), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS), MRPL14 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D8PFG4, A1XQU5, G1TXF6, O14388, O74538, P02412, P0C2H6, P0C2H7, P0CX29, P0CX30, P0CY39, P0CY40, P36105, P38754, P46222, P55844, P61353, P61354, P61355, P61356, P61357, P61358, P61359, P62251, P69090, P69091, P91914, Q02753, Q02984, Q12672, Q1JQ99, Q43291, Q4R8Z4, Q6FLA8, Q6P1L8, Q6YIA3, Q7M0E7, Q7ZTZ2, Q7ZV82, Q8LJU5

Diamond homologs: A0L5Y3, A0PXV6, A1BJ24, A2C4Y9, A3PGM1, A4SCR9, A4WVJ8, A4XBN6, A5CCK2, A5GVX0, A5I7J6, A6LPS1, A6X0C8, A7FZ59, A7GJ64, A8IAQ6, A8LM67, A8M519, A9B421, A9BCN7, A9IW13, A9M5P0, B0B892, B0BCF7, B0SA37, B0SSG7, B1IGE4, B1KSL5, B1WQS0, B1X4Z8, B1XJS9, B2S2E6, B2S669, B3CN36, B3EGY0, B3EP51, B3EUL3, B3QR72, B3QYD4, B4S5B8

SIGNOR signaling

1 interactions.

AEffectBMechanism
MRPL14“form complex”“39S mitochondrial large ribosomal subunit”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 83 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 control2039.0×8e-25
Mitochondrial translation initiation1734.2×4e-20
Mitochondrial translation elongation1734.2×4e-20
Mitochondrial translation1532.8×2e-17
Mitochondrial translation termination1729.6×4e-19
Translation1514.8×3e-12

GO biological processes:

GO termPartnersFoldFDR
mitochondrial translation1842.3×3e-22
negative regulation of translation513.2×4e-03
protein autophosphorylation611.8×1e-03
translation811.1×1e-04
MAPK cascade510.3×9e-03
protein phosphorylation87.3×1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance32
Likely benign1
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

634 predictions. Top by Δscore:

VariantEffectΔscore
6:44114205:TGGTG:Tacceptor_gain1.0000
6:44114207:GTG:Gacceptor_gain1.0000
6:44114208:TG:Tacceptor_gain1.0000
6:44114206:GGTG:Gacceptor_gain0.9900
6:44114208:TGC:Tacceptor_loss0.9900
6:44114209:GCT:Gacceptor_loss0.9900
6:44114210:C:CCacceptor_gain0.9900
6:44114210:CTG:Cacceptor_loss0.9900
6:44114211:T:Gacceptor_loss0.9900
6:44114213:G:GCacceptor_gain0.9900
6:44116536:GTTA:Gdonor_loss0.9900
6:44116537:TTAC:Tdonor_loss0.9900
6:44116538:TA:Tdonor_loss0.9900
6:44116539:ACC:Adonor_loss0.9900
6:44116540:C:CAdonor_loss0.9900
6:44116626:GATCC:Gacceptor_loss0.9900
6:44116628:TC:Tacceptor_gain0.9900
6:44116629:CC:Cacceptor_gain0.9900
6:44116629:CCTG:Cacceptor_loss0.9900
6:44116630:C:CGacceptor_loss0.9900
6:44116631:T:Aacceptor_loss0.9900
6:44127068:AGCAG:Adonor_loss0.9900
6:44127069:GCAGG:Gdonor_loss0.9900
6:44127070:CAG:Cdonor_loss0.9900
6:44127071:AGG:Adonor_loss0.9900
6:44127072:GGTG:Gdonor_loss0.9900
6:44127073:GTGA:Gdonor_loss0.9900
6:44127074:T:Gdonor_loss0.9900
6:44114213:G:Cacceptor_gain0.9800
6:44116630:C:CCacceptor_gain0.9800

AlphaMissense

949 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:44113964:A:TV106D0.984
6:44113981:G:CF100L0.984
6:44113981:G:TF100L0.984
6:44113983:A:GF100L0.984
6:44114063:A:TI73K0.979
6:44114063:A:CI73R0.969
6:44113928:C:GR118P0.967
6:44113977:A:GS102P0.967
6:44114024:A:TI86N0.967
6:44114027:A:GL85P0.966
6:44114149:A:CS44R0.966
6:44114149:A:TS44R0.966
6:44114151:T:GS44R0.966
6:44113859:G:TA141D0.965
6:44114112:A:GC57R0.965
6:44113972:G:CN103K0.964
6:44113972:G:TN103K0.964
6:44113967:A:TV105E0.962
6:44114110:G:CC57W0.962
6:44114063:A:GI73T0.961
6:44113961:A:TL107H0.957
6:44114072:C:AG70V0.957
6:44114021:A:TV87E0.956
6:44114157:C:GD42H0.954
6:44113873:C:AK136N0.953
6:44113873:C:GK136N0.953
6:44113913:A:TI123N0.953
6:44113925:A:GI119T0.953
6:44113935:C:AG116W0.953
6:44114030:G:TA84E0.953

dbSNP variants (sampled 300 via entrez): RS1000098100 (6:44115374 T>C), RS1000277610 (6:44121774 T>C), RS1000339022 (6:44128132 T>C), RS1000770792 (6:44126696 A>T), RS1001018520 (6:44120523 T>C), RS1001795351 (6:44117846 T>G), RS1002114455 (6:44114504 C>T), RS1002162612 (6:44128296 G>T), RS1002448631 (6:44125093 T>C), RS1002835070 (6:44114089 A>C,G), RS1002910005 (6:44114264 A>C), RS1003133131 (6:44128445 C>G,T), RS1003244079 (6:44113197 G>T), RS1003560906 (6:44124888 C>T), RS1003591869 (6:44125232 T>C)

Disease associations

OMIM: gene MIM:611827 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

StudyTraitp-value
GCST001155_1Vascular endothelial growth factor levels0.000000e+00
GCST001850_17Major depressive disorder9.000000e-06
GCST002942_11Percentage gas trapping9.000000e-07
GCST009144_30Disease progression in age-related macular degeneration (adjusted for baseline)9.000000e-07
GCST010867_63Coronary artery disease4.000000e-08
GCST012048_5Triglyceride levels9.000000e-07

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0007628gas trapping measurement
EFO:0008336disease progression measurement
EFO:0004530triglyceride measurement

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 expression, decreases expression2
ginger extractdecreases expression, increases abundance1
bisphenol Adecreases methylation1
arseniteaffects binding, increases reaction1
manganese chlorideincreases expression, increases abundance1
ochratoxin Adecreases expression1
gossypol acetic aciddecreases expression1
pinosylvindecreases expression1
di-n-butylphosphoric acidaffects expression1
CGP 52608affects binding, increases reaction1
K 7174decreases expression1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamideincreases expression1
pyrimidifenincreases expression1
ICG 001decreases expression1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidinedecreases expression, increases response to substance1
Acetaminophenaffects cotreatment, decreases expression1
Air Pollutantsdecreases expression, increases abundance1
Ethyl Methanesulfonatedecreases expression1
Hydrogen Peroxideaffects expression1
Lipopolysaccharidesaffects cotreatment, decreases expression1
Manganeseincreases abundance, increases expression1
Methyl Methanesulfonatedecreases expression1
Oils, Volatiledecreases expression, increases abundance1
Ribonucleotidesaffects binding1
Rotenoneincreases expression1
Smokedecreases expression1
Dronabinoldecreases expression1
Thiramdecreases expression1
Tobacco Smoke Pollutionincreases expression1
Valproic Aciddecreases methylation1

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.