RPL37

Summary

RPL37 (ribosomal protein L37, HGNC:10347) is a protein-coding gene on chromosome 5p13.1, encoding Large ribosomal subunit protein eL37 (P61927). Component of the large ribosomal subunit. It is a common-essential gene (DepMap: required in 100.0% 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 L37E family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C2C2-type zinc finger-like motif. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

Source: NCBI Gene 6167 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 17 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_000997

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10347
Approved symbol	RPL37
Name	ribosomal protein L37
Location	5p13.1
Locus type	gene with protein product
Status	Approved
Aliases	L37, eL37
Ensembl gene	ENSG00000145592
Ensembl biotype	protein_coding
OMIM	604181
Entrez	6167

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000274242, ENST00000504562, ENST00000507642, ENST00000508493, ENST00000509877, ENST00000511787, ENST00000916325, ENST00000916326, ENST00000916327, ENST00000916328, ENST00000916329, ENST00000916330

RefSeq mRNA: 1 — MANE Select: NM_000997 NM_000997

CCDS: CCDS3934

Canonical transcript exons

ENST00000274242 — 4 exons

Exon	Start	End
ENSE00000971145	40825262	40832573
ENSE00001527382	40835183	40835222
ENSE00003520385	40834181	40834265
ENSE00003521426	40834471	40834606

Expression profiles

Bgee: expression breadth ubiquitous, 307 present calls, max score 99.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9270 / max 64.6557, expressed in 1513 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61455	181.5903	1824
61452	2.1569	1114
61451	0.9205	536
61454	0.3661	173
61453	0.2685	113
61456	0.2150	92

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
urethra	UBERON:0000057	99.99	gold quality
germinal epithelium of ovary	UBERON:0001304	99.99	gold quality
nipple	UBERON:0002030	99.99	gold quality
penis	UBERON:0000989	99.98	gold quality
pleura	UBERON:0000977	99.97	gold quality
pylorus	UBERON:0001166	99.97	gold quality
mammary duct	UBERON:0001765	99.97	gold quality
palpebral conjunctiva	UBERON:0001812	99.97	gold quality
epithelium of nasopharynx	UBERON:0001951	99.97	gold quality
parietal pleura	UBERON:0002400	99.97	gold quality
visceral pleura	UBERON:0002401	99.97	gold quality
trabecular bone tissue	UBERON:0002483	99.97	gold quality
caput epididymis	UBERON:0004358	99.97	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.97	gold quality
superior surface of tongue	UBERON:0007371	99.97	gold quality
colonic mucosa	UBERON:0000317	99.96	gold quality
renal medulla	UBERON:0000362	99.96	gold quality
seminal vesicle	UBERON:0000998	99.96	gold quality
cardia of stomach	UBERON:0001162	99.96	gold quality
epididymis	UBERON:0001301	99.96	gold quality
parotid gland	UBERON:0001831	99.96	gold quality
gingival epithelium	UBERON:0001949	99.96	gold quality
synovial joint	UBERON:0002217	99.96	gold quality
epithelium of mammary gland	UBERON:0003244	99.96	gold quality
corpus epididymis	UBERON:0004359	99.96	gold quality
cauda epididymis	UBERON:0004360	99.96	gold quality
mucosa of paranasal sinus	UBERON:0005030	99.96	gold quality
saphenous vein	UBERON:0007318	99.96	gold quality
tendon of biceps brachii	UBERON:0008188	99.96	gold quality
lower lobe of lung	UBERON:0008949	99.96	gold quality

Single-cell (SCXA)

Detected in 37 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	7300.91
E-MTAB-9221	yes	7033.12
E-CURD-88	yes	6992.24
E-CURD-98	yes	5673.57
E-CURD-112	yes	35.68
E-MTAB-7316	yes	18.73
E-MTAB-10042	yes	16.79
E-HCAD-35	yes	8.30
E-GEOD-137537	yes	6.56
E-HCAD-31	yes	4.53
E-GEOD-139324	no	8378.01
E-MTAB-10432	no	8203.65
E-HCAD-56	no	7384.33
E-MTAB-9467	no	7182.58
E-MTAB-8410	no	6760.14

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

48 targeting RPL37, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-190A-5P	99.54	71.45	933
HSA-MIR-190B-5P	99.54	71.40	925
HSA-MIR-548B-3P	99.38	67.26	1000
HSA-MIR-4721	99.26	66.05	818
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-6797-3P	99.17	66.94	668
HSA-MIR-371A-5P	99.08	66.51	1914

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 3)

• Transfection revealed more rpL37 mRNA associated with nonphosphorylatable La A(366) than with La S(366), concomitant with La A(366)-specific shift of a fraction of L37 mRNA off polysomes (PMID:15485924)
• Data report that depletion of L37 leads to cell cycle arrest in a MDM2/L11- and p53-dependent manner. (PMID:20935493)
• RPL37, RPS15 and RPS20 regulate the Mdm2-p53-MdmX network but employ different mechanisms to do so. (PMID:23874713)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl37	ENSDARG00000034291
mus_musculus	Rpl37	ENSMUSG00000041841
rattus_norvegicus	Rpl37l1	ENSRNOG00000033803

Protein

Protein identifiers

Large ribosomal subunit protein eL37 — P61927 (reviewed: P61927)

Alternative names: 60S ribosomal protein L37, G1.16

All UniProt accessions (3): D6R9X9, D6RG19, P61927

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 eL37 family.

RefSeq proteins (1): NP_000988* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001569	Ribosomal_eL37	Family
IPR011331	Ribosomal_eL37/eL43	Homologous_superfamily
IPR011332	Ribosomal_zn-bd	Homologous_superfamily
IPR018267	Ribosomal_eL37_CS	Conserved_site

Pfam: PF01907

UniProt features (10 total): binding site 4, modified residue 3, chain 1, zinc finger region 1, sequence conflict 1

Structure

Experimental structures (PDB)

192 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
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
8FKV	ELECTRON MICROSCOPY	2.47
9QLO	ELECTRON MICROSCOPY	2.47
8FLE	ELECTRON MICROSCOPY	2.48
9P8B	ELECTRON MICROSCOPY	2.48

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61927-F1	90.15	0.73

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 19; 22; 34; 37

Post-translational modifications (3): 10, 96, 97

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: 291 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, YAGI_AML_WITH_INV_16_TRANSLOCATION, GNF2_TPT1, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_MALE_GAMETE_GENERATION, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_MUSCLE_CONTRACTION, MARTINEZ_RB1_TARGETS_DN, GOBP_REGULATION_OF_SYNCYTIUM_FORMATION_BY_PLASMA_MEMBRANE_FUSION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GNF2_FBL

GO Biological Process (3): cytoplasmic translation (GO:0002181), translation (GO:0006412), positive regulation of signal transduction by p53 class mediator (GO:1901798)

GO Molecular Function (7): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), zinc ion binding (GO:0008270), rRNA binding (GO:0019843), MDM2/MDM4 family protein binding (GO:0097371), ubiquitin ligase inhibitor activity (GO:1990948), metal ion binding (GO:0046872)

GO Cellular Component (7): cytoplasm (GO:0005737), cytosol (GO:0005829), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), synapse (GO:0045202), ribosome (GO:0005840), 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
ribosome	2
cellular anatomical structure	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
signal transduction by p53 class mediator	1
regulation of signal transduction by p53 class mediator	1
positive regulation of intracellular signal transduction	1
nucleic acid binding	1
structural molecule activity	1
transition metal ion binding	1
RNA binding	1
protein binding	1
ubiquitin-protein transferase inhibitor activity	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1
large ribosomal subunit	1
cytosolic ribosome	1
cytosol	1
cell junction	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

61 interactions, top by confidence:

A	B	Type	Score
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
TCF3	RPL37	psi-mi:“MI:0915”(physical association)	0.370
RPL37	POLR1B	psi-mi:“MI:0915”(physical association)	0.370
RPL37	SQSTM1	psi-mi:“MI:0915”(physical association)	0.370
WIF1	RPL37	psi-mi:“MI:0915”(physical association)	0.370
ARAF	PPP6C	psi-mi:“MI:0914”(association)	0.350
MAST3	PRPSAP2	psi-mi:“MI:0914”(association)	0.350
SRPK1	YBX3	psi-mi:“MI:0914”(association)	0.350
Tmed10	TARS3	psi-mi:“MI:0914”(association)	0.350
NPM1	RPSA	psi-mi:“MI:0914”(association)	0.350
HIF1AN	CNOT1	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
ZC3H18	MACROH2A1	psi-mi:“MI:0914”(association)	0.350
NCBP2	SEH1L	psi-mi:“MI:0914”(association)	0.350
MAPT	MEX3A	psi-mi:“MI:0914”(association)	0.350
MAPT	POTEF	psi-mi:“MI:0914”(association)	0.350
APP	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
GRB10	POLRMT	psi-mi:“MI:0914”(association)	0.350
PTPN12	HSPB1	psi-mi:“MI:0914”(association)	0.350
HCK	MAGEB2	psi-mi:“MI:0914”(association)	0.350
PTPN6	RPL35A	psi-mi:“MI:0914”(association)	0.350
N	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
NKX2-5		psi-mi:“MI:0914”(association)	0.350
ILF3	GTPBP10	psi-mi:“MI:0914”(association)	0.350
	DDX3X	psi-mi:“MI:0914”(association)	0.350
	HNRNPDL	psi-mi:“MI:0914”(association)	0.350

BioGRID (193): RPL37 (Affinity Capture-MS), RPL37 (Affinity Capture-MS), RPL37 (Affinity Capture-MS), RPL37 (Affinity Capture-MS), RPL37 (Affinity Capture-MS), RPL35A (Co-fractionation), RPL37 (Co-fractionation), RPL37 (Co-fractionation), RPL37 (Co-fractionation), RPL37 (Co-fractionation), RPL37 (Co-fractionation), RPL37 (Co-fractionation), RPL37A (Co-fractionation), UBA52 (Co-fractionation), RPL37 (Synthetic Growth Defect)

ESM2 similar proteins: A0A1D8PF45, A1RX99, A4FX24, A4S6Z4, A4YIY8, A6UPF4, A6UTQ8, A6VG90, A7I4F7, A8F4R5, A9AAG2, B8D688, C3MQ25, C3MVE4, C3N5P3, C3NEA7, C4KHB9, O26744, O44125, P05733, P0DJ24, P49166, P49622, P51402, P54011, P59289, P61927, P61928, P79244, Q00VK4, Q12U31, Q1IX76, Q2NF48, Q3INQ6, Q43292, Q4JAZ9, Q54MG6, Q6BPF6, Q6LY46, Q8LEM8

Diamond homologs: A0A1D8PF45, A0B5Q5, A0RZA3, A3CS13, A3DN33, A4FX24, A6UPF4, A6UTQ8, A6VG90, A7I4F7, A9AAG2, B0R5R1, B6YUU6, B8GJW5, B9LQK2, C5A1H2, O26744, O29387, O44125, P05733, P0DJ24, P32410, P49166, P49212, P49622, P51402, P54011, P59289, P61927, P61928, P62004, P62005, P62885, P62886, P79244, Q12U31, Q18GA1, Q2FT51, Q3INQ6, Q43292

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL37	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 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.

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of translation	5	15.6×	5e-03
cytoplasmic translation	5	14.7×	5e-03
translation	7	11.4×	2e-03
negative regulation of apoptotic process	9	5.0×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	8
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

521 predictions. Top by Δscore:

Variant	Effect	Δscore
5:40832492:T:C	donor_gain	1.0000
5:40832571:TGC:T	acceptor_gain	1.0000
5:40832574:C:CC	acceptor_gain	1.0000
5:40832574:CTGCA:C	acceptor_loss	1.0000
5:40834171:CAAA:C	donor_gain	1.0000
5:40834177:GTA:G	donor_loss	1.0000
5:40834178:TA:T	donor_loss	1.0000
5:40834180:CC:C	donor_loss	1.0000
5:40834467:TTAC:T	donor_loss	1.0000
5:40834469:A:AC	donor_gain	1.0000
5:40834469:AC:A	donor_loss	1.0000
5:40834470:C:CC	donor_gain	1.0000
5:40834470:CA:C	donor_gain	1.0000
5:40834470:CACT:C	donor_gain	1.0000
5:40834470:CACTT:C	donor_gain	1.0000
5:40834602:TTCGT:T	acceptor_gain	1.0000
5:40834603:TCGT:T	acceptor_gain	1.0000
5:40834604:CGT:C	acceptor_gain	1.0000
5:40834604:CGTC:C	acceptor_gain	1.0000
5:40834605:GT:G	acceptor_gain	1.0000
5:40834606:TC:T	acceptor_loss	1.0000
5:40834607:C:CC	acceptor_gain	1.0000
5:40834607:C:CG	acceptor_loss	1.0000
5:40834612:C:CT	acceptor_gain	1.0000
5:40834614:T:C	acceptor_gain	1.0000
5:40834614:T:TC	acceptor_gain	1.0000
5:40835179:TCACC:T	donor_loss	1.0000
5:40835180:CA:C	donor_loss	1.0000
5:40835181:A:AC	donor_gain	1.0000
5:40835181:A:AT	donor_loss	1.0000

AlphaMissense

612 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:40834584:C:T	G9E	0.999
5:40834226:C:T	G60E	0.997
5:40834260:A:G	W49R	0.997
5:40834260:A:T	W49R	0.997
5:40834555:A:G	C19R	0.997
5:40834584:C:A	G9V	0.997
5:40834586:A:C	F8L	0.997
5:40834586:A:T	F8L	0.997
5:40834588:A:G	F8L	0.997
5:40834599:C:T	G4E	0.997
5:40834600:C:G	G4R	0.997
5:40834600:C:T	G4R	0.997
5:40832564:G:C	F78L	0.996
5:40832564:G:T	F78L	0.996
5:40832566:A:G	F78L	0.996
5:40834510:A:G	C34R	0.996
5:40834585:C:G	G9R	0.996
5:40834585:C:T	G9R	0.996
5:40832565:A:G	F78S	0.995
5:40834554:C:T	C19Y	0.995
5:40834258:C:A	W49C	0.994
5:40834258:C:G	W49C	0.994
5:40834475:T:A	R45S	0.994
5:40834475:T:G	R45S	0.994
5:40834553:G:C	C19W	0.994
5:40834568:C:A	K14N	0.994
5:40834568:C:G	K14N	0.994
5:40834599:C:A	G4V	0.994
5:40834249:C:A	K52N	0.993
5:40834249:C:G	K52N	0.993

dbSNP variants (sampled 300 via entrez): RS1000110602 (5:40827863 C>T), RS1000180679 (5:40826207 T>C), RS1000255574 (5:40826346 TA>T), RS1000353977 (5:40835370 C>T), RS1000513199 (5:40825437 G>C), RS1000586699 (5:40825601 A>G), RS1000863921 (5:40830559 T>C), RS1001162175 (5:40832939 C>A), RS1001499520 (5:40826829 G>C), RS1001797345 (5:40826595 A>G), RS1002149875 (5:40834948 G>A,C), RS1002438167 (5:40830027 A>G), RS1002500889 (5:40827955 T>C), RS1002805393 (5:40827731 CCTT>C), RS1002815952 (5:40836663 G>A)

Disease associations

OMIM: gene MIM:604181 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX)

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

46 potent at pChembl≥5 of 50 total, top 45 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
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
5.76	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

46 with measured affinity, of 205 total; 26 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
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
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	7
bisphenol A	affects expression, decreases expression, increases methylation	4
Copper	affects binding, increases expression, decreases expression	2
Lead	affects expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tunicamycin	increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
Particulate Matter	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	decreases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
pentabromodiphenyl ether	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
entinostat	affects cotreatment, 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
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
jinfukang	increases expression	1
NSC 689534	affects binding, increases expression	1
bisphenol AF	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1

ChEMBL screening assays

89 unique, capped per target: 89 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.