RPS27
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Also known as MPS-1MPS1S27eS27
Summary
RPS27 (ribosomal protein S27, HGNC:10416) is a protein-coding gene on chromosome 1q21.3, encoding Small ribosomal subunit protein eS27 (P42677). Component of the small 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 four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
Source: NCBI Gene 6232 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Diamond-Blackfan anemia 17 (Limited, GenCC)
- GWAS associations: 12
- Clinical variants (ClinVar): 13 total
- Phenotypes (HPO): 62
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_001030
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10416 |
| Approved symbol | RPS27 |
| Name | ribosomal protein S27 |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MPS-1, MPS1, S27, eS27 |
| Ensembl gene | ENSG00000177954 |
| Ensembl biotype | protein_coding |
| OMIM | 603702 |
| Entrez | 6232 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000392558, ENST00000477151, ENST00000493224, ENST00000643794, ENST00000651669, ENST00000936803, ENST00000936804, ENST00000936805, ENST00000936806
RefSeq mRNA: 3 — MANE Select: NM_001030
NM_001030, NM_001349946, NM_001349947
CCDS: CCDS1059
Canonical transcript exons
ENST00000651669 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003468875 | 153991566 | 153991676 |
| ENSE00003669489 | 153992065 | 153992155 |
| ENSE00003688128 | 153991115 | 153991223 |
| ENSE00003844361 | 153990762 | 153990802 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 99.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 822.6043 / max 9213.7604, expressed in 1827 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5463 | 821.9658 | 1827 |
| 5464 | 0.6384 | 337 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 99.99 | gold quality |
| granulocyte | CL:0000094 | 99.98 | gold quality |
| lymph node | UBERON:0000029 | 99.98 | gold quality |
| endocervix | UBERON:0000458 | 99.98 | gold quality |
| right ovary | UBERON:0002118 | 99.98 | gold quality |
| left ovary | UBERON:0002119 | 99.98 | gold quality |
| ovary | UBERON:0000992 | 99.97 | gold quality |
| corpus callosum | UBERON:0002336 | 99.97 | gold quality |
| ventricular zone | UBERON:0003053 | 99.97 | gold quality |
| calcaneal tendon | UBERON:0003701 | 99.97 | gold quality |
| fallopian tube | UBERON:0003889 | 99.97 | gold quality |
| cortical plate | UBERON:0005343 | 99.97 | gold quality |
| body of uterus | UBERON:0009853 | 99.97 | gold quality |
| ectocervix | UBERON:0012249 | 99.97 | gold quality |
| pituitary gland | UBERON:0000007 | 99.96 | gold quality |
| zone of skin | UBERON:0000014 | 99.96 | gold quality |
| vagina | UBERON:0000996 | 99.96 | gold quality |
| adipose tissue | UBERON:0001013 | 99.96 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.96 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.96 | gold quality |
| mucosa of stomach | UBERON:0001199 | 99.96 | gold quality |
| right uterine tube | UBERON:0001302 | 99.96 | gold quality |
| left uterine tube | UBERON:0001303 | 99.96 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.96 | gold quality |
| skin of leg | UBERON:0001511 | 99.96 | gold quality |
| thyroid gland | UBERON:0002046 | 99.96 | gold quality |
| spleen | UBERON:0002106 | 99.96 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 99.96 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 99.96 | gold quality |
| myometrium | UBERON:0001296 | 99.95 | gold quality |
Single-cell (SCXA)
Detected in 70 experiment(s), a significant marker in 21.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 20879.66 |
| E-MTAB-7407 | yes | 18085.64 |
| E-CURD-88 | yes | 17943.85 |
| E-CURD-46 | yes | 17717.83 |
| E-HCAD-1 | yes | 17324.87 |
| E-MTAB-9067 | yes | 17281.51 |
| E-HCAD-9 | yes | 16945.99 |
| E-MTAB-8410 | yes | 16161.81 |
| E-MTAB-9221 | yes | 15971.65 |
| E-CURD-122 | yes | 15331.42 |
| E-GEOD-135922 | yes | 12764.27 |
| E-CURD-98 | yes | 7886.73 |
| E-MTAB-10042 | yes | 7379.03 |
| E-MTAB-7316 | yes | 6700.47 |
| E-MTAB-10855 | yes | 4958.33 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 16)
- MPS-1 was overexpressed in 86% of the gastric cancer tissues and all gastric cancer cells. MPS-1 expression was significantly increased and corresponded with the tumor-node-metastasis clinical stage, and was significantly higher in the late stage. (PMID:16914586)
- When MPS-1 is overexpressed, it has an extraribosomal function as a strong inhibitor of HNSCC tumor cell growth, which may be exerted by reduced paxillin gene expression. (PMID:19642098)
- study reveals a multilevel interplay between RPS27L/S27 and p53-MDM2 axis, with RPS27L functioning as a p53 target, a MDM2 substrate and a p53 regulator (PMID:21170087)
- This work is consistent with a critical role of RPMPS-1/S27 in the life cycle of various viruses and shows that disruption of viral ZFPs is potentially important to control and prevent deathly viral diseases (PMID:21518817)
- a novel pathway, the MPS-1/NF-kappaB/Gadd45beta signal pathway, played an important role in MPS-1 knockdown-induced apoptosis of gastric cancer cells. (PMID:21796632)
- The data on genome context analysis indicates that the presence of MPS-1 in the blood is an indicator of oncogenesis (PMID:22798506)
- We identified frequent recurrent (i.e. hotspot) mutation in the 5’ untranslated region of RPS27 in ~10% of melanoma samples (PMID:24913145)
- Loss of function mutations in RPL27 and RPS27 lead to Diamond-Blackfan anaemia. (PMID:25424902)
- MPS1 is a new marker of Purkinje Cells. (PMID:26708598)
- reveal how Mps1 dynamically modifies kinetochores to correct improper attachments and ensure faithful chromosome segregation (PMID:28441529)
- Chloride anion behaves as a signaling effector for CFTR in the modulation of RPS27 expression. (PMID:28941802)
- this study indicates that MPS-1 promotes leptin-induced colorectal cancer (CRC) via activating JNK/c-Jun pathway. MPS-1 might represent a potent candidate for the treatment and prognostic prediction of obesity-associated CRC. (PMID:31506433)
- Functional analysis of RPS27 mutations and expression in melanoma. (PMID:31663663)
- Neddylation modification of ribosomal protein RPS27L or RPS27 by MDM2 or NEDP1 regulates cancer cell survival. (PMID:32779270)
- Hsp90 chaperone code and the tumor suppressor VHL cooperatively regulate the mitotic checkpoint. (PMID:34586601)
- RPS27 selectively regulates the expression and alternative splicing of inflammatory and immune response genes in thyroid cancer cells. (PMID:35546566)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| rattus_norvegicus | ENSRNOG00000070133 |
Paralogs (1): RPS27L (ENSG00000185088)
Protein
Protein identifiers
Small ribosomal subunit protein eS27 — P42677 (reviewed: P42677)
Alternative names: 40S ribosomal protein S27, Metallopan-stimulin 1
All UniProt accessions (2): A0A2R8Y731, P42677
UniProt curated annotations — full annotation on UniProt →
Function. Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for proper rRNA processing and maturation of 18S rRNAs. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome.
Subunit / interactions. Component of the small ribosomal subunit. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3.
Subcellular location. Cytoplasm. Nucleus. Nucleolus.
Tissue specificity. Expressed in a wide variety of actively proliferating cells and tumor tissues.
Disease relevance. Diamond-Blackfan anemia 17 (DBA17) [MIM:617409] An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. The disease is caused by variants affecting the gene represented in this entry.
Cofactor. Binds 1 zinc ion per subunit.
Similarity. Belongs to the eukaryotic ribosomal protein eS27 family.
RefSeq proteins (3): NP_001021, NP_001336875, NP_001336876 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000592 | Ribosomal_eS27 | Family |
| IPR011332 | Ribosomal_zn-bd | Homologous_superfamily |
| IPR023407 | Ribosomal_eS27_Zn-bd_dom_sf | Homologous_superfamily |
Pfam: PF01667
UniProt features (23 total): strand 10, binding site 4, helix 2, initiator methionine 1, chain 1, sequence conflict 1, zinc finger region 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
214 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8GLP | ELECTRON MICROSCOPY | 1.67 |
| 8QOI | ELECTRON MICROSCOPY | 1.9 |
| 9O3W | ELECTRON MICROSCOPY | 1.9 |
| 8YOO | ELECTRON MICROSCOPY | 2 |
| 9C3H | ELECTRON MICROSCOPY | 2 |
| 7R4X | ELECTRON MICROSCOPY | 2.15 |
| 9I2D | ELECTRON MICROSCOPY | 2.19 |
| 9PBE | ELECTRON MICROSCOPY | 2.19 |
| 8YOP | 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 |
| 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 |
| 9P8B | ELECTRON MICROSCOPY | 2.48 |
| 7XNY | ELECTRON MICROSCOPY | 2.5 |
| 8JDJ | ELECTRON MICROSCOPY | 2.5 |
| 9RUC | ELECTRON MICROSCOPY | 2.5 |
| 8G60 | ELECTRON MICROSCOPY | 2.54 |
| 8IFE | ELECTRON MICROSCOPY | 2.57 |
| 9P7D | ELECTRON MICROSCOPY | 2.57 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P42677-F1 | 92.47 | 0.88 |
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): 37; 40; 56; 59
Post-translational modifications (1): 11
Function
Pathways and Gene Ontology
Reactome pathways
68 pathways
| ID | Pathway |
|---|---|
| R-HSA-141444 | Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal |
| 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-2467813 | Separation of Sister Chromatids |
| R-HSA-2500257 | Resolution of Sister Chromatid Cohesion |
| R-HSA-5663220 | RHO GTPases Activate Formins |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-68877 | Mitotic Prometaphase |
| R-HSA-72649 | Translation initiation complex formation |
| R-HSA-72689 | Formation of a pool of free 40S subunits |
| R-HSA-72695 | Formation of the ternary complex, and subsequently, the 43S complex |
| R-HSA-72702 | Ribosomal scanning and start codon recognition |
| 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-9648025 | EML4 and NUDC in mitotic spindle formation |
| R-HSA-9735869 | SARS-CoV-1 modulates host translation machinery |
| R-HSA-9754678 | SARS-CoV-2 modulates host translation machinery |
| 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-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 |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-141424 | Amplification of signal from the kinetochores |
| R-HSA-1430728 | Metabolism |
| R-HSA-156842 | Eukaryotic Translation Elongation |
MSigDB gene sets: 454 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RIBOSOME_BIOGENESIS, YAGI_AML_WITH_INV_16_TRANSLOCATION, MODULE_151, GNF2_TPT1, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, HSIAO_HOUSEKEEPING_GENES, GOBP_RIBOSOME_ASSEMBLY, GGCNKCCATNK_UNKNOWN, GOBP_TRANSLATION, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION
GO Biological Process (5): ribosomal small subunit assembly (GO:0000028), cytoplasmic translation (GO:0002181), rRNA processing (GO:0006364), translation (GO:0006412), ribosomal small subunit biogenesis (GO:0042274)
GO Molecular Function (6): DNA binding (GO:0003677), RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (14): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), ribosome (GO:0005840), postsynaptic density (GO:0014069), cytosolic ribosome (GO:0022626), cytosolic small ribosomal subunit (GO:0022627), small-subunit processome (GO:0032040), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), nucleolus (GO:0005730), cytoplasm (GO:0005737), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-15 pathways:
| Category | Pathways |
|---|---|
| Cap-dependent Translation Initiation | 4 |
| Translation | 2 |
| Mitotic Prometaphase | 2 |
| Amplification of signal from the kinetochores | 1 |
| Eukaryotic Translation Initiation | 1 |
| Eukaryotic Translation Elongation | 1 |
| Influenza Viral RNA Transcription and Replication | 1 |
| Selenoamino acid metabolism | 1 |
| Mitotic Anaphase | 1 |
| RHO GTPase Effectors | 1 |
| rRNA processing in the nucleus and cytosol | 1 |
| M Phase | 1 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 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 | 4 |
| synapse | 3 |
| ribosome biogenesis | 2 |
| nucleic acid binding | 2 |
| ribosome | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| protein-RNA complex assembly | 1 |
| ribosome assembly | 1 |
| ribosomal small subunit biogenesis | 1 |
| translation | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 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 |
| ribonucleoprotein complex biogenesis | 1 |
| structural molecule activity | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| cytosol | 1 |
| small ribosomal subunit | 1 |
| cytosolic ribosome | 1 |
| nucleolus | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
3092 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPS27 | RPS26 | P02383 | 864 |
| RPS27 | RPS28 | P25112 | 854 |
| RPS27 | RPS29 | P30054 | 840 |
| RPS27 | RPL27 | P08526 | 836 |
| RPS27 | MDM2 | Q00987 | 821 |
| RPS27 | RPS19 | P39019 | 815 |
| RPS27 | RPS25 | P25111 | 806 |
| RPS27 | RPS14 | P06366 | 793 |
| RPS27 | RPS15A | P39027 | 763 |
| RPS27 | RPS24 | P16632 | 759 |
| RPS27 | RPL5 | P46777 | 757 |
| RPS27 | RPL38 | P23411 | 752 |
| RPS27 | RPL35 | P42766 | 746 |
| RPS27 | RPL26 | P61254 | 742 |
| RPS27 | RPL30 | P04645 | 737 |
IntAct
184 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 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| LRRK2 | RPS27 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.640 |
| RACK1 | RPS17 | psi-mi:“MI:0915”(physical association) | 0.610 |
| MDM2 | RPS27 | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| MDM2 | RPS27 | psi-mi:“MI:0915”(physical association) | 0.600 |
| RPS27 | MDM2 | psi-mi:“MI:0915”(physical association) | 0.600 |
| RPS27 | PSME3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ENOPH1 | RPS27 | psi-mi:“MI:0915”(physical association) | 0.550 |
| BLM | RPS27 | psi-mi:“MI:0915”(physical association) | 0.540 |
| BLM | RPS27 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.540 |
| SYNGAP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS18 | RPS2 | psi-mi:“MI:0914”(association) | 0.530 |
| P/V | IRS4 | psi-mi:“MI:0914”(association) | 0.530 |
| PPP2R2B | DDX3X | psi-mi:“MI:0914”(association) | 0.460 |
| TUBA1A | TUBAL3 | psi-mi:“MI:0914”(association) | 0.420 |
| RPS27 | RPS7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RPS27 | SKIL | psi-mi:“MI:0915”(physical association) | 0.370 |
| RPS27 | ENTPD4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TOM1 | RPS27 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ACTN4 | RPS27 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (533): RPS27 (Affinity Capture-MS), RPS27 (Affinity Capture-MS), RPL10A (Co-fractionation), RPL12 (Co-fractionation), RPL18 (Co-fractionation), RPL18A (Co-fractionation), RPL27 (Co-fractionation), RPL27A (Co-fractionation), RPL30 (Co-fractionation), RPL6 (Co-fractionation), RPL7A (Co-fractionation), RPL8 (Co-fractionation), RPL9 (Co-fractionation), RPLP2 (Co-fractionation), RPS18 (Co-fractionation)
ESM2 similar proteins: A0A1D8PTI7, A0A1L8H579, A0A1W2PPG7, A1X8D9, G1TZ76, O64650, O74330, P03131, P06459, P09003, P0C567, P0DOC8, P11332, P17387, P24051, P35997, P36826, P36833, P38711, P40569, P42677, P47903, P47904, P55833, P68834, P68835, P68958, P68959, Q02271, Q13670, Q1X709, Q2KHT7, Q39072, Q3T0B7, Q5RBK1, Q5RGZ1, Q67616, Q67708, Q6DRC3, Q6ZWU9
Diamond homologs: A0A1D8PTI7, A1RRN0, A2BN94, A3MUV2, A4WLR8, B1YAF9, B6YT34, C5A6X9, G1TZ76, O64650, O74330, P24051, P35997, P38654, P38711, P42677, P47903, P47904, P55833, P58078, Q2KHT7, Q3T0B7, Q46C77, Q4J9B1, Q5JE50, Q5RBK1, Q6ZWU9, Q6ZWY3, Q71TY3, Q71UM5, Q7RVN2, Q8L953, Q8T1V4, Q8U474, Q8ZTY4, Q96564, Q973F9, Q97Z80, Q9M2F1, Q9TXP0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPS27 | “form complex” | “40S cytosolic small ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 190 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 7 | 16.5× | 4e-06 |
| Cap-dependent Translation Initiation | 7 | 16.5× | 4e-06 |
| SARS-CoV-1 modulates host translation machinery | 7 | 16.5× | 4e-06 |
| Formation of the ternary complex, and subsequently, the 43S complex | 10 | 16.4× | 2e-08 |
| Nonsense-Mediated Decay (NMD) | 9 | 16.0× | 1e-07 |
| Ribosomal scanning and start codon recognition | 11 | 16.0× | 5e-09 |
| TNFR1-induced NF-kappa-B signaling pathway | 6 | 15.4× | 4e-05 |
| Eukaryotic Translation Elongation | 7 | 14.9× | 8e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| non-canonical NF-kappaB signal transduction | 5 | 26.5× | 3e-04 |
| cytoplasmic translation | 15 | 17.5× | 7e-12 |
| translational initiation | 7 | 15.8× | 1e-04 |
| regulation of translational initiation | 5 | 14.7× | 3e-03 |
| extrinsic apoptotic signaling pathway via death domain receptors | 5 | 12.6× | 5e-03 |
| canonical NF-kappaB signal transduction | 5 | 11.5× | 6e-03 |
| translation | 17 | 11.0× | 1e-10 |
| tumor necrosis factor-mediated signaling pathway | 5 | 10.4× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
13 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
236 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:153990974:GAGA:G | donor_gain | 1.0000 |
| 1:153991112:TAGCT:T | acceptor_loss | 1.0000 |
| 1:153991113:A:AG | acceptor_gain | 1.0000 |
| 1:153991113:A:AT | acceptor_loss | 1.0000 |
| 1:153991114:G:GA | acceptor_gain | 1.0000 |
| 1:153991114:GCTC:G | acceptor_gain | 1.0000 |
| 1:153991220:CCAGG:C | donor_loss | 1.0000 |
| 1:153991223:GGT:G | donor_loss | 1.0000 |
| 1:153991224:G:GA | donor_loss | 1.0000 |
| 1:153991225:T:A | donor_loss | 1.0000 |
| 1:153991672:AGAAG:A | donor_loss | 1.0000 |
| 1:153991673:GAAG:G | donor_gain | 1.0000 |
| 1:153991673:GAAGG:G | donor_loss | 1.0000 |
| 1:153991674:AAG:A | donor_loss | 1.0000 |
| 1:153991675:AG:A | donor_loss | 1.0000 |
| 1:153991676:GGTAA:G | donor_loss | 1.0000 |
| 1:153991677:GT:G | donor_loss | 1.0000 |
| 1:153991678:T:G | donor_loss | 1.0000 |
| 1:153992064:GGAT:G | acceptor_gain | 1.0000 |
| 1:153990799:GCCT:G | donor_gain | 0.9900 |
| 1:153990803:G:GG | donor_gain | 0.9900 |
| 1:153990977:A:G | donor_gain | 0.9900 |
| 1:153990994:C:G | donor_gain | 0.9900 |
| 1:153991010:G:T | donor_gain | 0.9900 |
| 1:153991022:C:T | donor_gain | 0.9900 |
| 1:153991113:AGCTC:A | acceptor_gain | 0.9900 |
| 1:153991114:GC:G | acceptor_gain | 0.9900 |
| 1:153991114:GCT:G | acceptor_gain | 0.9900 |
| 1:153991114:GCTCG:G | acceptor_gain | 0.9900 |
| 1:153991208:G:GT | donor_gain | 0.9900 |
AlphaMissense
549 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:153991202:T:C | F32L | 1.000 |
| 1:153991204:C:A | F32L | 1.000 |
| 1:153991204:C:G | F32L | 1.000 |
| 1:153991589:T:C | F47L | 1.000 |
| 1:153991591:T:A | F47L | 1.000 |
| 1:153991591:T:G | F47L | 1.000 |
| 1:153991593:G:T | S48I | 1.000 |
| 1:153991642:C:G | C64W | 1.000 |
| 1:153992077:G:T | R80M | 1.000 |
| 1:153991208:G:C | D34H | 0.999 |
| 1:153991212:T:A | V35E | 0.999 |
| 1:153991217:T:C | C37R | 0.999 |
| 1:153991587:T:A | V46D | 0.999 |
| 1:153991589:T:A | F47I | 0.999 |
| 1:153991592:A:C | S48R | 0.999 |
| 1:153991594:C:A | S48R | 0.999 |
| 1:153991594:C:G | S48R | 0.999 |
| 1:153991616:T:C | C56R | 0.999 |
| 1:153991617:G:A | C56Y | 0.999 |
| 1:153991618:T:G | C56W | 0.999 |
| 1:153991625:T:C | C59R | 0.999 |
| 1:153991626:G:A | C59Y | 0.999 |
| 1:153991627:C:G | C59W | 0.999 |
| 1:153991638:T:A | L63H | 0.999 |
| 1:153991640:T:C | C64R | 0.999 |
| 1:153991641:G:A | C64Y | 0.999 |
| 1:153991653:G:A | G68E | 0.999 |
| 1:153991653:G:T | G68V | 0.999 |
| 1:153991656:G:A | G69E | 0.999 |
| 1:153991656:G:T | G69V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000118647 (1:153989524 C>T), RS1000509046 (1:153988937 T>C), RS1002259443 (1:153991943 C>G), RS1002934205 (1:153989537 C>A,G), RS1004220318 (1:153989566 G>A), RS1004996538 (1:153989901 A>G), RS1005026391 (1:153990217 C>T), RS1006248863 (1:153992454 T>TC), RS1006565022 (1:153991672 A>G,T), RS1006826721 (1:153991032 C>G,T), RS1006940689 (1:153991401 A>G), RS1008501466 (1:153990078 GTTTATTTA>G,GTTTA,GTTTATTTATTTA), RS1008602878 (1:153988838 C>T), RS1009926139 (1:153989175 G>A,C,T), RS1011570090 (1:153990290 T>C)
Disease associations
OMIM: gene MIM:603702 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Diamond-Blackfan anemia 17 | Limited | Unknown |
Mondo (1): Diamond-Blackfan anemia 17 (MONDO:0044310)
Orphanet (0):
HPO phenotypes
62 total (30 of 62 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000047 | Hypospadias |
| HP:0000085 | Horseshoe kidney |
| HP:0000104 | Renal agenesis |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0000185 | Cleft soft palate |
| HP:0000218 | High palate |
| HP:0000234 | Abnormality of the head |
| HP:0000252 | Microcephaly |
| HP:0000286 | Epicanthus |
| HP:0000294 | Low anterior hairline |
| HP:0000316 | Hypertelorism |
| HP:0000347 | Micrognathia |
| HP:0000369 | Low-set ears |
| HP:0000431 | Wide nasal bridge |
| HP:0000465 | Webbed neck |
| HP:0000470 | Short neck |
| HP:0000486 | Strabismus |
| HP:0000508 | Ptosis |
| HP:0000519 | Developmental cataract |
| HP:0000912 | Sprengel anomaly |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0000980 | Pallor |
| HP:0001087 | Developmental glaucoma |
| HP:0001199 | Triphalangeal thumb |
| HP:0001227 | Abnormality of the thenar eminence |
| HP:0001254 | Lethargy |
| HP:0001510 | Growth delay |
| HP:0001518 | Small for gestational age |
| HP:0001627 | Abnormal heart morphology |
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010136_18 | Fruit consumption | 3.000000e-08 |
| GCST010137_3 | Cooked vegetable consumption | 3.000000e-09 |
| GCST010142_60 | Fish- and plant-related diet | 4.000000e-09 |
| GCST010142_92 | Fish- and plant-related diet | 6.000000e-14 |
| GCST010696_22 | Cortical thickness (min-P) | 4.000000e-10 |
| GCST010697_50 | Cortical surface area (min-P) | 1.000000e-12 |
| GCST010698_81 | Subcortical volume (min-P) | 1.000000e-23 |
| GCST010699_7 | Brain morphology (min-P) | 1.000000e-10 |
| GCST010700_11 | Cortical thickness (MOSTest) | 4.000000e-13 |
| GCST010701_73 | Cortical surface area (MOSTest) | 4.000000e-09 |
| GCST010702_45 | Subcortical volume (MOSTest) | 4.000000e-10 |
| GCST010703_276 | Brain morphology (MOSTest) | 2.000000e-15 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL1932893 (SINGLE PROTEIN), 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
59 potent at pChembl≥5 of 63 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.19 | IC50 | 6.4 | nM | CHEMBL2089255 |
| 7.43 | IC50 | 37 | nM | CHEMBL2089254 |
| 6.88 | IC50 | 131 | nM | CHEMBL2089255 |
| 6.64 | IC50 | 228 | nM | CHEMBL2089253 |
| 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 |
| 6.33 | Kd | 469.7 | nM | CHEMBL5653589 |
| 6.33 | ED50 | 469.7 | nM | CHEMBL5653589 |
| 6.30 | IC50 | 500 | nM | CHEMBL4574496 |
| 6.30 | IC50 | 500 | nM | CHEMBL4560206 |
| 6.28 | IC50 | 529 | nM | CHEMBL211195 |
| 6.25 | IC50 | 568 | nM | CHEMBL424872 |
| 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 |
| 5.75 | IC50 | 1800 | nM | CHEMBL2089254 |
| 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 |
| 5.40 | IC50 | 3970 | nM | CHEMBL2089252 |
| 5.39 | IC50 | 4100 | nM | CHEMBL4128560 |
| 5.38 | IC50 | 4200 | nM | CHEMBL210861 |
| 5.37 | IC50 | 4300 | nM | CHEMBL4127016 |
| 5.36 | IC50 | 4380 | nM | CHEMBL4527910 |
PubChem BioAssay actives
57 with measured affinity, of 229 total; 35 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-[[4-amino-6-(tert-butylamino)-5-cyano-2-pyridinyl]amino]benzamide | 683374: Inhibition of Mps1-mediated p38 MAPK phosphorylation after 90 mins by DELFIA assay | ic50 | 0.0064 | uM |
| 4-[(4-amino-5-cyano-6-ethoxy-2-pyridinyl)amino]benzamide | 683374: Inhibition of Mps1-mediated p38 MAPK phosphorylation after 90 mins by DELFIA assay | ic50 | 0.0370 | uM |
| 4-amino-6-anilino-2-ethoxypyridine-3-carbonitrile | 683374: Inhibition of Mps1-mediated p38 MAPK phosphorylation after 90 mins by DELFIA assay | ic50 | 0.2280 | 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 |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149300: Binding affinity to human RPS27 incubated for 45 mins by Kinobead based pull down assay | kd | 0.4697 | 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 |
| 4-amino-N-benzyl-5-cyano-6-ethoxypyridine-2-carboxamide | 683374: Inhibition of Mps1-mediated p38 MAPK phosphorylation after 90 mins by DELFIA assay | ic50 | 0.5290 | uM |
| 4-amino-5-cyano-6-ethoxy-N-[(4-methylsulfonylphenyl)methyl]pyridine-2-carboxamide | 683374: Inhibition of Mps1-mediated p38 MAPK phosphorylation after 90 mins by DELFIA assay | ic50 | 0.5680 | 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 |
| 4-amino-2-ethoxy-6-(2-phenylethylamino)pyridine-3-carbonitrile | 683374: Inhibition of Mps1-mediated p38 MAPK phosphorylation after 90 mins by DELFIA assay | ic50 | 3.9700 | 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-(4-amino-5-cyano-6-ethoxy-2-pyridinyl)-2-phenylacetamide | 683374: Inhibition of Mps1-mediated p38 MAPK phosphorylation after 90 mins by DELFIA assay | ic50 | 4.2000 | 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 |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149300: Binding affinity to human RPS27 incubated for 45 mins by Kinobead based pull down assay | kd | 7.6532 | uM |
CTD chemical–gene interactions
64 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, increases expression, affects cotreatment | 5 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 3 |
| methylmercuric chloride | increases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 2 |
| bisphenol S | decreases expression, increases expression, affects cotreatment | 2 |
| Particulate Matter | increases abundance, affects cotreatment, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| epigallocatechin gallate | increases expression | 1 |
| arsenic trichloride | decreases expression, increases abundance, affects cotreatment | 1 |
| 4-hydroxy-equilenin | increases expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | decreases ADP-ribosylation | 1 |
| CD 437 | decreases expression | 1 |
| chloropicrin | increases expression | 1 |
| calfactant | affects cotreatment, increases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| N-butyrylglucosamine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| nabiximols | increases expression | 1 |
| Sunitinib | increases expression | 1 |
ChEMBL screening assays
97 unique, capped per target: 97 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1936525 | Binding | Inhibition of MPS1 | 5-(2-amino-pyrimidin-4-yl)-1H-pyrrole and 2-(2-amino-pyrimidin-4-yl)-1,5,6,7-tetrahydro-pyrrolo[3,2-c]pyridin-4-one derivatives as new classes of selective and orally available Polo-like kinase 1 inhibitors. — Bioorg Med Chem Lett |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: Diamond-Blackfan anemia 17
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Diamond-Blackfan anemia 17