RPL30

Summary

RPL30 (ribosomal protein L30, HGNC:10333) is a protein-coding gene on chromosome 8q22.2, encoding Large ribosomal subunit protein eL30 (P62888). Component of the large ribosomal subunit. It is a common-essential gene (DepMap: required in 97.7% of cancer cell lines).

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

Source: NCBI Gene 6156 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 18 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 97.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_000989

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10333
Approved symbol	RPL30
Name	ribosomal protein L30
Location	8q22.2
Locus type	gene with protein product
Status	Approved
Aliases	L30, eL30
Ensembl gene	ENSG00000156482
Ensembl biotype	protein_coding
OMIM	180467
Entrez	6156

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 15 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000287038, ENST00000396070, ENST00000517489, ENST00000517805, ENST00000518164, ENST00000518850, ENST00000520998, ENST00000521112, ENST00000521291, ENST00000521534, ENST00000521726, ENST00000522156, ENST00000523172, ENST00000887279, ENST00000887280, ENST00000887281, ENST00000914434, ENST00000914435, ENST00000914436, ENST00000914437, ENST00000914438, ENST00000914439, ENST00000951172

RefSeq mRNA: 1 — MANE Select: NM_000989 NM_000989

CCDS: CCDS34928

Canonical transcript exons

ENST00000287038 — 5 exons

Exon	Start	End
ENSE00001378382	98045508	98045545
ENSE00003556291	98045347	98045399
ENSE00003572456	98042645	98042775
ENSE00003607931	98041721	98041850
ENSE00003692005	98044943	98045088

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 99.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1035.4137 / max 13120.7326, expressed in 1827 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
94079	1018.3156	1827
94078	9.8170	1733
94076	4.8523	1495
94074	1.0889	659
94080	0.9492	531
94073	0.3907	192

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parietal pleura	UBERON:0002400	99.96	gold quality
urethra	UBERON:0000057	99.95	gold quality
pleura	UBERON:0000977	99.95	gold quality
germinal epithelium of ovary	UBERON:0001304	99.95	gold quality
skin of hip	UBERON:0001554	99.95	gold quality
left ovary	UBERON:0002119	99.95	gold quality
ovary	UBERON:0000992	99.94	gold quality
upper leg skin	UBERON:0004262	99.94	gold quality
secondary oocyte	CL:0000655	99.93	gold quality
lymph node	UBERON:0000029	99.93	gold quality
endocervix	UBERON:0000458	99.93	gold quality
mammary duct	UBERON:0001765	99.93	gold quality
right ovary	UBERON:0002118	99.93	gold quality
visceral pleura	UBERON:0002401	99.93	gold quality
epithelium of mammary gland	UBERON:0003244	99.93	gold quality
vena cava	UBERON:0004087	99.93	gold quality
caput epididymis	UBERON:0004358	99.93	gold quality
granulocyte	CL:0000094	99.92	gold quality
monocyte	CL:0000576	99.92	gold quality
leukocyte	CL:0000738	99.92	gold quality
mononuclear cell	CL:0000842	99.92	gold quality
mammalian vulva	UBERON:0000997	99.92	gold quality
seminal vesicle	UBERON:0000998	99.92	gold quality
right uterine tube	UBERON:0001302	99.92	gold quality
superficial temporal artery	UBERON:0001614	99.92	gold quality
mammary gland	UBERON:0001911	99.92	gold quality
pericardium	UBERON:0002407	99.92	gold quality
ganglionic eminence	UBERON:0004023	99.92	gold quality
thoracic mammary gland	UBERON:0005200	99.92	gold quality
epididymis	UBERON:0001301	99.91	gold quality

Single-cell (SCXA)

Detected in 40 experiment(s), a significant marker in 14.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	8800.99
E-CURD-88	yes	8707.27
E-MTAB-9221	yes	8479.19
E-CURD-46	yes	7488.63
E-HCAD-9	yes	4322.98
E-MTAB-6678	yes	41.35
E-MTAB-9067	yes	30.98
E-CURD-112	yes	28.01
E-GEOD-135922	yes	27.27
E-MTAB-10042	yes	16.65
E-MTAB-7316	yes	16.04
E-HCAD-35	yes	7.80
E-GEOD-137537	yes	6.56
E-CURD-55	no	13728.71
E-CURD-120	no	13552.21

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC, RFX1

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 3)

• Gain of 8q-mapped RPL30 gene is associated with adverse outcome in Medulloblastoma. (PMID:16968546)
• Knockdown of L29 or L30 enhanced the interaction of MDM2 with L11 and L5 and markedly inhibited MDM2-mediated p53 ubiquitination, suggesting that direct perturbation of 60 S ribosomal biogenesis activates p53 via L11- and L5-mediated MDM2 suppression. (PMID:20554519)
• crystal of L30e diffracted to 1.6 A degrees resolution (PMID:22139155)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl30	ENSDARG00000035871
drosophila_melanogaster	RpL30	FBGN0086710
caenorhabditis_elegans	rpl-30	WBGENE00004444

Protein

Protein identifiers

Large ribosomal subunit protein eL30 — P62888 (reviewed: P62888)

Alternative names: 60S ribosomal protein L30

All UniProt accessions (5): P62888, A0A0B4J213, A0A0C4DH44, E5RI99, E5RJH3

UniProt curated annotations — full annotation on UniProt →

Function. Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.

Subunit / interactions. Component of the large ribosomal subunit.

Subcellular location. Cytoplasm.

Similarity. Belongs to the eukaryotic ribosomal protein eL30 family.

RefSeq proteins (1): NP_000980* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000231	Ribosomal_eL30	Family
IPR004038	Ribosomal_eL8/eL30/eS12/Gad45	Domain
IPR022991	Ribosomal_eL30_CS	Conserved_site
IPR029064	Ribosomal_eL30-like_sf	Homologous_superfamily
IPR039109	Ribosomal_eL30-like	Family

Pfam: PF01248

UniProt features (13 total): strand 4, helix 4, modified residue 3, chain 1, cross-link 1

Structure

Experimental structures (PDB)

185 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
3VI6	X-RAY DIFFRACTION	1.59
8A3D	ELECTRON MICROSCOPY	1.67
8GLP	ELECTRON MICROSCOPY	1.67
8QYX	ELECTRON MICROSCOPY	1.78
8QOI	ELECTRON MICROSCOPY	1.9
9O3W	ELECTRON MICROSCOPY	1.9
8YOO	ELECTRON MICROSCOPY	2
9C3H	ELECTRON MICROSCOPY	2
9I2D	ELECTRON MICROSCOPY	2.19
9PBE	ELECTRON MICROSCOPY	2.19
8QFD	ELECTRON MICROSCOPY	2.2
8YOP	ELECTRON MICROSCOPY	2.2
9GUL	ELECTRON MICROSCOPY	2.2
9O3V	ELECTRON MICROSCOPY	2.2
9O3Y	ELECTRON MICROSCOPY	2.2
8JDK	ELECTRON MICROSCOPY	2.26
8G5Y	ELECTRON MICROSCOPY	2.29
9S3D	ELECTRON MICROSCOPY	2.32
9RPV	ELECTRON MICROSCOPY	2.35
9S3B	ELECTRON MICROSCOPY	2.38
7OW7	ELECTRON MICROSCOPY	2.4
8K2C	ELECTRON MICROSCOPY	2.4
8XSX	ELECTRON MICROSCOPY	2.4
9SPF	ELECTRON MICROSCOPY	2.4
9SPI	ELECTRON MICROSCOPY	2.4
8JDL	ELECTRON MICROSCOPY	2.42
9S3C	ELECTRON MICROSCOPY	2.42
9QLO	ELECTRON MICROSCOPY	2.47
8FLE	ELECTRON MICROSCOPY	2.48
9P8B	ELECTRON MICROSCOPY	2.48

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P62888-F1	88.14	0.77

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 (4): 10, 16, 26, 26

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-156827	L13a-mediated translational silencing of Ceruloplasmin expression
R-HSA-156902	Peptide chain elongation
R-HSA-1799339	SRP-dependent cotranslational protein targeting to membrane
R-HSA-192823	Viral mRNA Translation
R-HSA-2408557	Selenocysteine synthesis
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72689	Formation of a pool of free 40S subunits
R-HSA-72706	GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-72764	Eukaryotic Translation Termination
R-HSA-9010553	Regulation of expression of SLITs and ROBOs
R-HSA-9633012	Response of EIF2AK4 (GCN2) to amino acid deficiency
R-HSA-975956	Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-975957	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-9954709	Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
R-HSA-9954714	PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA
R-HSA-9954716	ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA

MSigDB gene sets: 251 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_CYTOPLASMIC_TRANSLATION, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GNF2_TPT1, MORF_UBE2I, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_MALE_GAMETE_GENERATION, PATIL_LIVER_CANCER, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM

GO Biological Process (5): cytoplasmic translation (GO:0002181), translation (GO:0006412), killing of cells of another organism (GO:0031640), defense response to Gram-negative bacterium (GO:0050829), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844)

GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (12): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), focal adhesion (GO:0005925), postsynaptic density (GO:0014069), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), extracellular exosome (GO:0070062), ribosome (GO:0005840), synapse (GO:0045202), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Ribosome-associated quality control	3
Translation	2
Cap-dependent Translation Initiation	2
Nonsense-Mediated Decay (NMD)	2
Eukaryotic Translation Initiation	1
Eukaryotic Translation Elongation	1
Influenza Viral RNA Transcription and Replication	1
Selenoamino acid metabolism	1
rRNA processing in the nucleus and cytosol	1
Signaling by ROBO receptors	1
Cellular response to starvation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
ribosome	2
translation	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
cell killing	1
disruption of cell in another organism	1
defense response to bacterium	1
antimicrobial humoral response	1
nucleic acid binding	1
structural molecule activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
cell-substrate junction	1
asymmetric synapse	1
postsynaptic specialization	1
large ribosomal subunit	1
cytosolic ribosome	1
cytosol	1
extracellular vesicle	1
intracellular membraneless organelle	1
cell junction	1
protein-containing complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

277 interactions, top by confidence:

A	B	Type	Score
NCK1	NCK2	psi-mi:“MI:0914”(association)	0.730
PIP4K2A	AHCYL1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RPL10A	RRP8	psi-mi:“MI:0914”(association)	0.640
RPL14	RRP8	psi-mi:“MI:0914”(association)	0.640
PIK3R2	IRS4	psi-mi:“MI:0914”(association)	0.640
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
RPL13A	RPL30	psi-mi:“MI:0915”(physical association)	0.550
DLD	PDHB	psi-mi:“MI:0914”(association)	0.530
NSA2	TYW5	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
ZNF512	ZNF724	psi-mi:“MI:0914”(association)	0.530
RBM34	NVL	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530
MAK16	NVL	psi-mi:“MI:0914”(association)	0.530
HP1BP3	IPO8	psi-mi:“MI:0914”(association)	0.530
RPL30	RRP8	psi-mi:“MI:0914”(association)	0.530
RPL18A	RRP8	psi-mi:“MI:0914”(association)	0.530
RPF1	ZNF324	psi-mi:“MI:0914”(association)	0.530
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480

BioGRID (881): RPL30 (Affinity Capture-MS), RPL30 (Affinity Capture-MS), RPL30 (Affinity Capture-RNA), EEF1A1 (Co-fractionation), RPL10A (Co-fractionation), RPL12 (Co-fractionation), RPL13 (Co-fractionation), RPL14 (Co-fractionation), RPL15 (Co-fractionation), RPL27A (Co-fractionation), RPL30 (Co-fractionation), RPL30 (Co-fractionation), RPL30 (Co-fractionation), RPL30 (Co-fractionation), RPL30 (Co-fractionation)

ESM2 similar proteins: A0A1D8PM75, A4FWF4, A5ULN4, A6VGV1, A7I9N4, A8MB78, A9A9U8, B8GDW0, C6A1G2, G1TDL2, O27127, O28389, O48558, O49884, P0DJ59, P14025, P14120, P38664, P39095, P49153, P52808, P58372, P58374, P58375, P58376, P62888, P62889, P62890, P67883, P67884, Q2FPJ8, Q2NEK6, Q3T0D5, Q55BS9, Q5I7K9, Q6C4U7, Q6FXZ0, Q6LXI6, Q752U5, Q76KA2

Diamond homologs: A0A1D8PM75, A0B560, A1RSE6, A3MXZ2, A4FWF4, A5ULN4, A6VGV1, A7I9N4, A8MB78, A9A9U8, B1YC27, B8GDW0, C5A206, C6A1G2, G1TDL2, O27127, O28389, O48558, O49884, O74018, P0DJ59, P11522, P14025, P14120, P29160, P38664, P39095, P49153, P52808, P54061, P58372, P58374, P58375, P58376, P62888, P62889, P62890, P67883, P67884, Q2FPJ8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL30	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 224 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:

Pathway	Partners	Fold	FDR
Formation of a pool of free 40S subunits	24	16.7×	8e-21
Peptide chain elongation	21	16.6×	2e-18
Viral mRNA Translation	21	16.6×	2e-18
Eukaryotic Translation Termination	22	16.4×	7e-19
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	21	16.4×	2e-18
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	22	16.1×	9e-19
L13a-mediated translational silencing of Ceruloplasmin expression	25	15.7×	8e-21
Selenocysteine synthesis	21	15.7×	6e-18

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	24	22.1×	7e-23
stress granule assembly	5	15.0×	2e-03
translational initiation	8	14.3×	2e-05
ribosomal large subunit biogenesis	6	13.2×	1e-03
translation	24	12.3×	1e-16
ribosomal small subunit biogenesis	10	11.3×	6e-06
rRNA processing	13	9.2×	8e-07
negative regulation of translation	8	7.8×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1588 predictions. Top by Δscore:

Variant	Effect	Δscore
8:98030452:T:A	acceptor_gain	1.0000
8:98030455:A:AG	acceptor_gain	1.0000
8:98030457:CCTA:C	acceptor_loss	1.0000
8:98030460:A:AG	acceptor_gain	1.0000
8:98030460:A:C	acceptor_loss	1.0000
8:98030460:AG:A	acceptor_gain	1.0000
8:98030461:G:GG	acceptor_gain	1.0000
8:98030461:GG:G	acceptor_gain	1.0000
8:98030461:GGT:G	acceptor_gain	1.0000
8:98030461:GGTAT:G	acceptor_gain	1.0000
8:98030578:GAGA:G	donor_gain	1.0000
8:98030581:A:AG	donor_gain	1.0000
8:98033040:A:AG	acceptor_gain	1.0000
8:98033041:G:GA	acceptor_gain	1.0000
8:98033041:GA:G	acceptor_gain	1.0000
8:98033172:TTCAG:T	donor_loss	1.0000
8:98033173:TCAG:T	donor_loss	1.0000
8:98033174:CAGG:C	donor_loss	1.0000
8:98033176:GG:G	donor_loss	1.0000
8:98033177:G:GC	donor_loss	1.0000
8:98033178:T:G	donor_loss	1.0000
8:98042786:C:CT	acceptor_gain	1.0000
8:98042787:A:T	acceptor_gain	1.0000
8:98045346:CCGT:C	donor_gain	1.0000
8:98027806:GGGCC:G	donor_gain	0.9900
8:98027811:A:AG	donor_gain	0.9900
8:98027812:G:GG	donor_gain	0.9900
8:98030456:C:G	acceptor_gain	0.9900
8:98030461:GGTA:G	acceptor_gain	0.9900
8:98030580:GA:G	donor_gain	0.9900

AlphaMissense

752 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:98041844:G:A	S102F	1.000
8:98041850:C:A	G100V	1.000
8:98041850:C:T	G100D	1.000
8:98042645:C:A	G100C	1.000
8:98042645:C:G	G100R	1.000
8:98042698:C:A	G82V	1.000
8:98042698:C:T	G82D	1.000
8:98042699:C:G	G82R	1.000
8:98042701:A:G	L81P	1.000
8:98042752:G:T	A64D	1.000
8:98042753:C:G	A64P	1.000
8:98045021:C:A	G30V	1.000
8:98045021:C:T	G30E	1.000
8:98045022:C:G	G30R	1.000
8:98045022:C:T	G30R	1.000
8:98045036:C:A	G25V	1.000
8:98045036:C:T	G25E	1.000
8:98045037:C:A	G25W	1.000
8:98045037:C:G	G25R	1.000
8:98045037:C:T	G25R	1.000
8:98041844:G:T	S102Y	0.999
8:98041845:A:G	S102P	0.999
8:98041847:T:A	D101V	0.999
8:98041848:C:G	D101H	0.999
8:98042645:C:T	G100S	0.999
8:98042656:A:T	I96N	0.999
8:98042659:G:T	A95D	0.999
8:98042662:A:G	L94P	0.999
8:98042686:C:A	G86V	0.999
8:98042686:C:T	G86E	0.999

dbSNP variants (sampled 300 via entrez): RS1000012824 (8:98046376 GT>G,GTT), RS1000334322 (8:98042146 C>T), RS1000353080 (8:98046042 C>A,T), RS1001280450 (8:98042879 A>G), RS1001584278 (8:98042540 A>G), RS1002340253 (8:98046001 A>G), RS1002787416 (8:98044763 G>A,C), RS1002850091 (8:98043817 A>T), RS1003353976 (8:98044035 G>A,T), RS1003901187 (8:98044322 C>A,T), RS1004473768 (8:98044605 T>C), RS1004757736 (8:98045798 CCT>C), RS1004864806 (8:98044286 C>T), RS1005571276 (8:98043363 G>A,T), RS1005605285 (8:98042997 C>G)

Disease associations

OMIM: gene MIM:180467 | 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):

Study	Trait	p-value
GCST009391_1375	Metabolite levels	5.000000e-06
GCST009391_884	Metabolite levels	5.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0010367	lysophosphatidylethanolamine 18:0 measurement
EFO:0010439	triacylglycerol 58:12 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6067547 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds).

Molecule	Name	Phase	Patents
CHEMBL6067484	GENTAMICIN SULFATE	4

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

ChEMBL bioactivities

50 potent at pChembl≥5 of 54 total, top 49 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.59	Kd	25.7	nM	CHEMBL3752910
7.59	ED50	25.7	nM	CHEMBL3752910
6.52	IC50	300	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4574496
6.41	IC50	390	nM	CHEMBL4126894
6.39	IC50	410	nM	CHEMBL4114159
6.35	IC50	450	nM	CHEMBL4126496
6.30	IC50	500	nM	CHEMBL4574496
6.30	IC50	500	nM	CHEMBL4560206
6.16	IC50	690	nM	CHEMBL4130157
6.15	IC50	710	nM	CHEMBL4108338
6.11	IC50	780	nM	CHEMBL4114159
6.09	IC50	820	nM	CHEMBL4109308
6.07	IC50	850	nM	CHEMBL4107559
6.07	IC50	850	nM	CHEMBL4533299
6.05	IC50	900	nM	CHEMBL4126894
6.05	IC50	900	nM	CHEMBL4126496
6.04	IC50	920	nM	CHEMBL4554909
5.97	IC50	1060	nM	CHEMBL4128388
5.89	IC50	1290	nM	CHEMBL4130157
5.86	IC50	1370	nM	CHEMBL4107559
5.84	IC50	1440	nM	CHEMBL4108338
5.81	IC50	1540	nM	CHEMBL4534859
5.80	Kd	1583	nM	CHEMBL5653589
5.80	ED50	1583	nM	CHEMBL5653589
5.76	IC50	1730	nM	CHEMBL4534859
5.69	IC50	2050	nM	CHEMBL4566239
5.68	IC50	2080	nM	CHEMBL4446635
5.66	IC50	2210	nM	CHEMBL4446635
5.66	EC50	2200	nM	CHEMBL4464929
5.64	IC50	2270	nM	CHEMBL4533299
5.63	IC50	2330	nM	CHEMBL4566239
5.62	IC50	2380	nM	CHEMBL4128388
5.58	IC50	2630	nM	CHEMBL4128250
5.55	IC50	2820	nM	CHEMBL4127458
5.53	IC50	2970	nM	CHEMBL4127311
5.51	IC50	3080	nM	CHEMBL4126072
5.46	IC50	3500	nM	CHEMBL4525277
5.44	IC50	3630	nM	CHEMBL4469712
5.39	IC50	4100	nM	CHEMBL4128560
5.37	IC50	4300	nM	CHEMBL4127016
5.36	IC50	4380	nM	CHEMBL4527910
5.16	IC50	7000	nM	CHEMBL4109308
5.13	IC50	7400	nM	CHLORAMPHENICOL SULFATE SALT
5.09	IC50	8040	nM	CHEMBL4128250
5.08	IC50	8370	nM	CHEMBL4128250
5.03	IC50	9320	nM	CHEMBL4127016
5.03	IC50	9240	nM	CHEMBL4128560

PubChem BioAssay actives

48 with measured affinity, of 209 total; 28 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149261: Binding affinity to human RPL30 incubated for 45 mins by Kinobead based pull down assay	kd	0.0257	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1585498: Binding affinity to 80S ribosome in human HuH7 cells expressing human C-terminal V5/6-His-tagged PCSK9 assessed as inhibition of PCSK9 secretion after 16 to 24 hrs by AlphaLISA method	ic50	0.3000	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-3-[4-(triazolo[4,5-b]pyridin-3-yl)phenyl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3800	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3900	uM
N-(3-chloro-2-pyridinyl)-4-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4100	uM
N-(3-chloro-2-pyridinyl)-4-(5-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4500	uM
N-(1-methylpyrrolo[2,3-c]pyridin-7-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.5000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.6900	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-5-(triazolo[4,5-b]pyridin-3-yl)pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.7100	uM
N-(3-chloro-2-pyridinyl)-3-[5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-2-pyridinyl]-N-[(3R)-piperidin-3-yl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-chloro-2-pyridinyl)-5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylpiperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.9200	uM
N-isoquinolin-1-yl-4-(1-methylpyrazol-4-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	1.0600	uM
N-isoquinolin-1-yl-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	1.5400	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149261: Binding affinity to human RPL30 incubated for 45 mins by Kinobead based pull down assay	kd	1.5827	uM
N-(3-methyl-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.0500	uM
N-(3-chloro-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	2.0800	uM
N-(5,8-dihydroisoquinolin-1-yl)-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1584424: Inhibition of human 80S ribosome-mediated PCSK9 translation expressed in CHO-K1 cells assessed as reduction in PCSK9 secretion	ec50	2.2000	uM
N-isoquinolin-1-yl-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.6300	uM
N-(3-chloro-2-pyridinyl)-4-(6-methylpyrazin-2-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.8200	uM
N-(3-chloro-2-pyridinyl)-4-[6-(dimethylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.9700	uM
N-(3-chloro-2-pyridinyl)-4-[6-(methylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	3.0800	uM
N-isoquinolin-1-yl-4-(6-methyl-1,2-benzoxazol-3-yl)-N-[(3R)-piperidin-3-yl]piperazine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	3.5000	uM
N-(3-methylpyrazin-2-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	3.6300	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-6-(triazolo[4,5-b]pyridin-3-yl)pyridine-3-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.1000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazin-2-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.3000	uM
4-(2-fluorophenyl)-N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	4.3800	uM
2,2-dichloro-N-[(1R,2R)-1,3-dihydroxy-1-(4-nitrophenyl)propan-2-yl]acetamide;sulfuric acid	717551: Inhibition of mitochondrial ribosome-mediated protein synthesis in human HeLa cells assessed as {35S]methionine incorporation by autoradiography	ic50	7.4000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases methylation, affects expression	5
sodium arsenite	decreases expression	3
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
testosterone enanthate	affects expression	1
deoxynivalenol	increases expression	1
nobiletin	decreases expression, decreases reaction	1
sodium arsenate	decreases expression, decreases reaction	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
arsenite	affects binding, increases reaction	1
beryllium sulfate	increases expression	1
ochratoxin A	increases expression	1
coumarin	decreases phosphorylation	1
phenanthrene	decreases expression	1
chloropicrin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
2-amino-14,16-dimethyloctadecan-3-ol	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
bisphenol AF	increases expression	1
Arsenic Trioxide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1

ChEMBL screening assays

90 unique, capped per target: 90 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1920845	Binding	Induction of ribosome to readthrough in human A-T lymphoblastoid cells assessed as ATM ser1981 autophosphorylation at 30 uM after 4 days by PTT-ELISA assay	Synthesis and evaluation of compounds that induce readthrough of premature termination codons. — Bioorg Med Chem Lett

Clinical trials (associated diseases)

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