RPL24
gene geneOn this page
Also known as L24eL24
Summary
RPL24 (ribosomal protein L24, HGNC:10325) is a protein-coding gene on chromosome 3q12.3, encoding Large ribosomal subunit protein eL24 (P83731). Component of the large ribosomal subunit.
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 L24E family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as ribosomal protein L30 because the encoded protein shares amino acid identity with the L30 ribosomal proteins from S. cerevisiae; however, its official name is ribosomal protein L24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
Source: NCBI Gene 6152 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 16 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_000986
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10325 |
| Approved symbol | RPL24 |
| Name | ribosomal protein L24 |
| Location | 3q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | L24, eL24 |
| Ensembl gene | ENSG00000114391 |
| Ensembl biotype | protein_coding |
| OMIM | 604180 |
| Entrez | 6152 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 10 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000394077, ENST00000464595, ENST00000469605, ENST00000470961, ENST00000488288, ENST00000495401, ENST00000704284, ENST00000704285, ENST00000704286, ENST00000704287, ENST00000704288, ENST00000889763, ENST00000915208, ENST00000915209, ENST00000915210, ENST00000915211, ENST00000915212, ENST00000915213
RefSeq mRNA: 1 — MANE Select: NM_000986
NM_000986
CCDS: CCDS33809
Canonical transcript exons
ENST00000394077 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001077803 | 101686482 | 101686557 |
| ENSE00001855871 | 101686672 | 101686718 |
| ENSE00003587860 | 101685818 | 101685928 |
| ENSE00003604056 | 101682771 | 101682907 |
| ENSE00003993782 | 101681091 | 101681215 |
| ENSE00003993783 | 101682429 | 101682492 |
Expression profiles
Bgee: expression breadth ubiquitous, 135 present calls, max score 99.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 180.2790 / max 1525.7708, expressed in 1824 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 43555 | 180.2790 | 1824 |
Top tissues by expression
135 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 99.90 | gold quality |
| pituitary gland | UBERON:0000007 | 99.86 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.86 | gold quality |
| cortical plate | UBERON:0005343 | 99.86 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.85 | gold quality |
| left ovary | UBERON:0002119 | 99.84 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.83 | gold quality |
| ovary | UBERON:0000992 | 99.83 | gold quality |
| thyroid gland | UBERON:0002046 | 99.83 | gold quality |
| corpus callosum | UBERON:0002336 | 99.83 | gold quality |
| endocervix | UBERON:0000458 | 99.82 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.82 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.82 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.82 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.81 | gold quality |
| cerebellum | UBERON:0002037 | 99.81 | gold quality |
| right ovary | UBERON:0002118 | 99.81 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.81 | gold quality |
| ventricular zone | UBERON:0003053 | 99.80 | gold quality |
| body of uterus | UBERON:0009853 | 99.80 | gold quality |
| fallopian tube | UBERON:0003889 | 99.79 | gold quality |
| uterine cervix | UBERON:0000002 | 99.78 | gold quality |
| myometrium | UBERON:0001296 | 99.78 | gold quality |
| right uterine tube | UBERON:0001302 | 99.78 | gold quality |
| nucleus accumbens | UBERON:0001882 | 99.78 | gold quality |
| ectocervix | UBERON:0012249 | 99.78 | gold quality |
| monocyte | CL:0000576 | 99.77 | gold quality |
| leukocyte | CL:0000738 | 99.77 | gold quality |
| pancreas | UBERON:0001264 | 99.77 | gold quality |
| prostate gland | UBERON:0002367 | 99.77 | gold quality |
Single-cell (SCXA)
Detected in 21 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 94.41 |
| E-CURD-88 | yes | 56.51 |
| E-MTAB-9221 | yes | 55.02 |
| E-MTAB-9067 | yes | 25.54 |
| E-HCAD-13 | yes | 24.84 |
| E-MTAB-10042 | yes | 15.33 |
| E-CURD-112 | yes | 6.33 |
| E-MTAB-9801 | yes | 5.63 |
| E-HCAD-35 | yes | 4.63 |
| E-MTAB-10662 | no | 6302.35 |
| E-MTAB-8559 | no | 3871.92 |
| E-MTAB-10596 | no | 3249.55 |
| E-MTAB-8060 | no | 3015.27 |
| E-MTAB-9467 | no | 71.43 |
| E-CURD-46 | no | 44.04 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 3)
- Data suggest that ribosomal subunit protein 24 (RPL24) lysine K27 acetylation may play a role in ribosome assembly. (PMID:24970821)
- Ribosomal protein L24 overexpression in hepatocellular carcinoma. (PMID:25520117)
- Ribosomal protein L24 mediates mammalian microRNA processing in an evolutionarily conserved manner. (PMID:38261097)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rpl24 | ENSDARG00000099104 |
| rattus_norvegicus | Rpl24l1 | ENSRNOG00000023733 |
| drosophila_melanogaster | RpL24 | FBGN0032518 |
| caenorhabditis_elegans | rpl-24.1 | WBGENE00004436 |
Paralogs (1): RSL24D1 (ENSG00000137876)
Protein
Protein identifiers
Large ribosomal subunit protein eL24 — P83731 (reviewed: P83731)
Alternative names: 60S ribosomal protein L24, 60S ribosomal protein L30
All UniProt accessions (5): A0A994J4A5, C9JNW5, C9JXB8, P83731, V9HW01
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.
Post-translational modifications. Mono-ADP-ribosylation at Glu-4 by PARP16 inhibits polysome assembly and mRNA loading, thereby inhibiting protein translation.
Similarity. Belongs to the eukaryotic ribosomal protein eL24 family.
RefSeq proteins (1): NP_000977* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000988 | Ribosomal_eL24-rel_N | Domain |
| IPR011017 | TRASH_dom | Domain |
| IPR023442 | Ribosomal_eL24_CS | Conserved_site |
| IPR038630 | L24e/L24_sf | Homologous_superfamily |
| IPR056366 | Ribosomal_eL24 | Family |
Pfam: PF01246
UniProt features (17 total): modified residue 8, cross-link 4, compositionally biased region 2, chain 1, region of interest 1, mutagenesis site 1
Structure
Experimental structures (PDB)
110 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 |
| 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 |
| 7XNY | ELECTRON MICROSCOPY | 2.5 |
| 8JDJ | ELECTRON MICROSCOPY | 2.5 |
| 9RUC | ELECTRON MICROSCOPY | 2.5 |
| 8G60 | ELECTRON MICROSCOPY | 2.54 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P83731-F1 | 81.19 | 0.48 |
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 (12): 131, 149, 2, 27, 35, 147, 4, 27, 77, 83, 86, 93
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 4 | abolished mono-adp-ribosylation by parp16, leading to increased protein synthesis. |
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: 284 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RIBOSOME_BIOGENESIS, MODULE_151, GOBP_RETINAL_GANGLION_CELL_AXON_GUIDANCE, MORF_UBE2I, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, HSIAO_HOUSEKEEPING_GENES, GOBP_RIBOSOME_ASSEMBLY, GOBP_NEUROGENESIS, GOBP_MALE_GAMETE_GENERATION, GOBP_CRANIAL_NERVE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, GOBP_ORGANELLE_FISSION
GO Biological Process (7): ribosomal large subunit assembly (GO:0000027), cytoplasmic translation (GO:0002181), translation (GO:0006412), exit from mitosis (GO:0010458), optic nerve development (GO:0021554), retinal ganglion cell axon guidance (GO:0031290), retina development in camera-type eye (GO:0060041)
GO Molecular Function (5): RNA binding (GO:0003723), mRNA binding (GO:0003729), structural constituent of ribosome (GO:0003735), cadherin binding (GO:0045296), protein binding (GO:0005515)
GO Cellular Component (10): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), synapse (GO:0045202), extracellular exosome (GO:0070062), 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 |
|---|---|
| cellular anatomical structure | 3 |
| ribosome | 2 |
| cytoplasm | 2 |
| protein-RNA complex assembly | 1 |
| ribosome assembly | 1 |
| ribosomal large subunit biogenesis | 1 |
| 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 |
| mitotic cell cycle phase transition | 1 |
| mitotic nuclear division | 1 |
| cranial nerve development | 1 |
| axon guidance | 1 |
| camera-type eye development | 1 |
| anatomical structure development | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| structural molecule activity | 1 |
| cell adhesion molecule binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| large ribosomal subunit | 1 |
| cytosolic ribosome | 1 |
| cytosol | 1 |
| cell junction | 1 |
| extracellular vesicle | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
303 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAP3K14 | CHUK | psi-mi:“MI:0914”(association) | 0.950 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| RACK1 | RPS17 | psi-mi:“MI:0915”(physical association) | 0.610 |
| NOM1 | RPLP0 | psi-mi:“MI:0914”(association) | 0.530 |
| MAPT | KIF2A | psi-mi:“MI:0914”(association) | 0.530 |
| DEFA5 | NUDT19 | psi-mi:“MI:0914”(association) | 0.530 |
| NAP1L1 | RPL17 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX6 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.510 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| PPP2R2B | DDX3X | psi-mi:“MI:0914”(association) | 0.460 |
| ESR1 | psi-mi:“MI:0914”(association) | 0.460 | |
| FUS | DDX3X | psi-mi:“MI:0914”(association) | 0.430 |
BioGRID (637): RPL24 (Affinity Capture-MS), RPL24 (Affinity Capture-MS), RPL24 (Affinity Capture-MS), RPL24 (Affinity Capture-MS), RPL24 (Affinity Capture-MS), EEF1A1 (Co-fractionation), RPL10 (Co-fractionation), RPL10A (Co-fractionation), RPL10L (Co-fractionation), RPL11 (Co-fractionation), RPL12 (Co-fractionation), RPL13A (Co-fractionation), RPL15 (Co-fractionation), RPL17 (Co-fractionation), RPL18 (Co-fractionation)
ESM2 similar proteins: A1XQU3, A1XQU5, G1SE28, G1SKF7, G1SZ12, G1TXF6, O65743, O94776, P21533, P37108, P38666, P47911, P50888, P50914, P55844, P61122, P61353, P61354, P61355, P61356, P61357, P61358, P83731, P83732, Q02878, Q2YGT9, Q3T0U2, Q42347, Q4R5C7, Q4R8Z4, Q58DQ3, Q63507, Q66WF5, Q6QMZ4, Q6Y263, Q862I1, Q8BP67, Q8ISQ3, Q8JGR4, Q90YQ0
Diamond homologs: A0B603, A1RXH7, A2BK96, A3DMR8, A4FYI7, A4YCQ3, A5UJN1, A6USH5, A6UT49, A6VJU5, A9A7E7, B6YWH7, C3MRJ8, C3MY94, C3MZM3, C3N7P5, C3NFS8, C4KIV3, C5A1V7, C6A1J2, G1SE28, O22165, O26357, O29492, P14116, P54064, P61122, P61123, P61124, P83731, P83732, Q07915, Q10353, Q12Z95, Q17606, Q3SZ12, Q4JAV2, Q5JGR5, Q5RF04, Q66WF5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPL24 | “form complex” | “60S cytosolic large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 203 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 |
|---|---|---|---|
| TRAF6 mediated NF-kB activation | 5 | 15.8× | 6e-04 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 19 | 15.4× | 3e-15 |
| SRP-dependent cotranslational protein targeting to membrane | 21 | 14.5× | 4e-16 |
| Eukaryotic Translation Termination | 17 | 14.1× | 4e-13 |
| Peptide chain elongation | 16 | 14.0× | 2e-12 |
| Viral mRNA Translation | 16 | 14.0× | 2e-12 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 16 | 13.8× | 2e-12 |
| Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) | 20 | 13.5× | 5e-15 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of cytoplasmic translation | 5 | 27.4× | 1e-04 |
| cytoplasmic translation | 19 | 19.4× | 2e-16 |
| ribosomal large subunit biogenesis | 6 | 14.7× | 5e-04 |
| mRNA stabilization | 7 | 14.2× | 1e-04 |
| stem cell population maintenance | 6 | 14.0× | 5e-04 |
| translation | 20 | 11.3× | 6e-13 |
| negative regulation of translation | 10 | 10.8× | 9e-06 |
| rRNA processing | 13 | 10.2× | 2e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
548 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:101681216:C:CC | acceptor_gain | 1.0000 |
| 3:101682766:CTCA:C | donor_loss | 1.0000 |
| 3:101682768:CAC:C | donor_loss | 1.0000 |
| 3:101682769:A:AC | donor_gain | 1.0000 |
| 3:101682770:C:CT | donor_gain | 1.0000 |
| 3:101682904:CTTC:C | acceptor_gain | 1.0000 |
| 3:101682905:TTC:T | acceptor_gain | 1.0000 |
| 3:101682906:TC:T | acceptor_gain | 1.0000 |
| 3:101682907:CC:C | acceptor_gain | 1.0000 |
| 3:101682907:CCT:C | acceptor_loss | 1.0000 |
| 3:101682908:C:CC | acceptor_gain | 1.0000 |
| 3:101682908:C:G | acceptor_loss | 1.0000 |
| 3:101682911:C:CT | acceptor_gain | 1.0000 |
| 3:101682912:A:T | acceptor_gain | 1.0000 |
| 3:101682916:C:CT | acceptor_gain | 1.0000 |
| 3:101682917:A:T | acceptor_gain | 1.0000 |
| 3:101685813:CTTA:C | donor_loss | 1.0000 |
| 3:101685815:TACCG:T | donor_gain | 1.0000 |
| 3:101685816:A:AC | donor_gain | 1.0000 |
| 3:101685816:AC:A | donor_gain | 1.0000 |
| 3:101685816:ACCGA:A | donor_gain | 1.0000 |
| 3:101685817:C:CT | donor_gain | 1.0000 |
| 3:101685817:CC:C | donor_gain | 1.0000 |
| 3:101685817:CCG:C | donor_gain | 1.0000 |
| 3:101685817:CCGA:C | donor_gain | 1.0000 |
| 3:101685817:CCGAC:C | donor_gain | 1.0000 |
| 3:101685838:T:TA | donor_gain | 1.0000 |
| 3:101685924:AAAAC:A | acceptor_gain | 1.0000 |
| 3:101685925:AAAC:A | acceptor_gain | 1.0000 |
| 3:101685926:AAC:A | acceptor_gain | 1.0000 |
AlphaMissense
1018 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:101685842:T:A | R56S | 1.000 |
| 3:101685842:T:G | R56S | 1.000 |
| 3:101685843:C:G | R56T | 1.000 |
| 3:101685855:G:A | T52I | 1.000 |
| 3:101685859:A:G | W51R | 1.000 |
| 3:101685859:A:T | W51R | 1.000 |
| 3:101686510:C:T | G18E | 1.000 |
| 3:101682778:C:G | A108P | 0.999 |
| 3:101682786:C:G | R105P | 0.999 |
| 3:101682797:T:A | R101S | 0.999 |
| 3:101682797:T:G | R101S | 0.999 |
| 3:101682798:C:G | R101T | 0.999 |
| 3:101682813:T:G | Q96P | 0.999 |
| 3:101682818:C:A | R94S | 0.999 |
| 3:101682818:C:G | R94S | 0.999 |
| 3:101682826:C:G | A92P | 0.999 |
| 3:101682831:A:T | I90K | 0.999 |
| 3:101682850:C:G | G84R | 0.999 |
| 3:101682855:A:T | I82N | 0.999 |
| 3:101682860:C:A | R80S | 0.999 |
| 3:101682860:C:G | R80S | 0.999 |
| 3:101682861:C:A | R80M | 0.999 |
| 3:101685826:C:G | G62R | 0.999 |
| 3:101685826:C:T | G62R | 0.999 |
| 3:101685827:C:A | K61N | 0.999 |
| 3:101685827:C:G | K61N | 0.999 |
| 3:101685839:C:A | R57S | 0.999 |
| 3:101685839:C:G | R57S | 0.999 |
| 3:101685843:C:A | R56I | 0.999 |
| 3:101685857:C:A | W51C | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000445823 (3:101687982 T>G), RS1000733750 (3:101688259 A>G), RS1000814459 (3:101687786 T>C), RS1001099590 (3:101688178 T>C), RS1001270862 (3:101684134 C>T), RS1001626527 (3:101687385 C>T), RS1002229770 (3:101688713 G>A,T), RS1002394228 (3:101684993 T>C,G), RS1002994308 (3:101684641 G>A), RS1003109461 (3:101680706 A>C,G), RS1003397144 (3:101686270 T>C), RS1004069758 (3:101682207 A>G,T), RS1004185643 (3:101681961 T>C), RS1004290194 (3:101687533 A>G), RS1004547346 (3:101685036 C>A)
Disease associations
OMIM: gene MIM:604180 | 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):
| Study | Trait | p-value |
|---|---|---|
| GCST001565_12 | Schizophrenia | 7.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6067553 (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
46 potent at pChembl≥5 of 54 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 209 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
63 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 4 |
| sodium arsenite | decreases expression, increases abundance, increases expression, affects binding, decreases reaction | 4 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| bisphenol F | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| uranyl acetate | affects expression | 1 |
| butylphen | increases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| phenanthrene | decreases expression | 1 |
| cyclic 3’,5’-uridine monophosphate | affects binding | 1 |
| CD 437 | decreases expression | 1 |
| chloropicrin | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| corosolic acid | 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 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2-amino-14,16-dimethyloctadecan-3-ol | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.