RPL41
geneOn this page
Also known as L41eL41
Summary
RPL41 (ribosomal protein L41, HGNC:10354) is a protein-coding gene on chromosome 12q13, encoding Small ribosomal subunit protein eS32 (P62945). Component of the small ribosomal subunit (Ref.8). It is a selective cancer dependency (DepMap: 13.8% of cell lines).
Enables mRNA 3’-UTR binding activity and mRNA 5’-UTR binding activity. Involved in cytoplasmic translation. Located in endoplasmic reticulum. Part of cytosolic large ribosomal subunit.
Source: NCBI Gene 6171 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 10 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 13.8% of screened cell lines
- MANE Select transcript:
NM_001035267
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10354 |
| Approved symbol | RPL41 |
| Name | ribosomal protein L41 |
| Location | 12q13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | L41, eL41 |
| Ensembl gene | ENSG00000229117 |
| Ensembl biotype | protein_coding |
| OMIM | 613315 |
| Entrez | 6171 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding_CDS_not_defined, 3 protein_coding
ENST00000358888, ENST00000501597, ENST00000546485, ENST00000546591, ENST00000546654, ENST00000552314, ENST00000945892
RefSeq mRNA: 2 — MANE Select: NM_001035267
NM_001035267, NM_021104
CCDS: CCDS44919
Canonical transcript exons
ENST00000546591 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002367235 | 56117482 | 56117967 |
| ENSE00002426395 | 56116633 | 56116799 |
| ENSE00003553561 | 56117189 | 56117211 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 99.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 109.7043 / max 1337.0827, expressed in 1823 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 126060 | 58.6649 | 1820 |
| 126059 | 24.3693 | 1809 |
| 126061 | 11.9104 | 1775 |
| 126064 | 5.7196 | 1517 |
| 126058 | 4.6483 | 1630 |
| 126062 | 2.9571 | 1223 |
| 126063 | 1.4346 | 765 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ovary | UBERON:0000992 | 99.98 | gold quality |
| right ovary | UBERON:0002118 | 99.98 | gold quality |
| left ovary | UBERON:0002119 | 99.98 | gold quality |
| ventricular zone | UBERON:0003053 | 99.98 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.98 | gold quality |
| granulocyte | CL:0000094 | 99.97 | gold quality |
| endocervix | UBERON:0000458 | 99.97 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.97 | gold quality |
| mucosa of stomach | UBERON:0001199 | 99.97 | gold quality |
| right uterine tube | UBERON:0001302 | 99.97 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.97 | gold quality |
| thyroid gland | UBERON:0002046 | 99.97 | gold quality |
| fallopian tube | UBERON:0003889 | 99.97 | gold quality |
| uterine cervix | UBERON:0000002 | 99.96 | gold quality |
| pituitary gland | UBERON:0000007 | 99.96 | gold quality |
| zone of skin | UBERON:0000014 | 99.96 | gold quality |
| lymph node | UBERON:0000029 | 99.96 | gold quality |
| vagina | UBERON:0000996 | 99.96 | gold quality |
| adipose tissue | UBERON:0001013 | 99.96 | gold quality |
| rectum | UBERON:0001052 | 99.96 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.96 | gold quality |
| myometrium | UBERON:0001296 | 99.96 | gold quality |
| left uterine tube | UBERON:0001303 | 99.96 | gold quality |
| skin of leg | UBERON:0001511 | 99.96 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 99.96 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.96 | gold quality |
| prostate gland | UBERON:0002367 | 99.96 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.96 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 99.96 | gold quality |
| cortical plate | UBERON:0005343 | 99.96 | gold quality |
Single-cell (SCXA)
Detected in 46 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10042 | yes | 18396.64 |
| E-MTAB-9067 | yes | 10727.24 |
| E-GEOD-137537 | yes | 6160.81 |
| E-MTAB-6678 | yes | 3566.51 |
| E-MTAB-9221 | yes | 57.81 |
| E-HCAD-35 | yes | 19.31 |
| E-HCAD-25 | yes | 4.63 |
| E-HCAD-6 | no | 20490.82 |
| E-CURD-85 | no | 18644.18 |
| E-HCAD-15 | no | 18503.56 |
| E-MTAB-10432 | no | 17939.41 |
| E-CURD-112 | no | 17679.29 |
| E-CURD-55 | no | 15510.86 |
| E-HCAD-4 | no | 15119.75 |
| E-CURD-98 | no | 15083.92 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC, ZBTB4
miRNA regulators (miRDB)
17 targeting RPL41, 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-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-6744-3P | 99.22 | 64.41 | 972 |
| HSA-MIR-4757-5P | 99.12 | 64.51 | 981 |
| HSA-MIR-7854-3P | 99.08 | 66.26 | 1117 |
| HSA-MIR-4751 | 98.80 | 64.95 | 525 |
| HSA-MIR-198 | 98.70 | 67.32 | 920 |
| HSA-MIR-1301-5P | 98.09 | 66.62 | 495 |
| HSA-MIR-6502-5P | 98.09 | 66.73 | 495 |
| HSA-MIR-4305 | 97.94 | 68.63 | 533 |
| HSA-MIR-6847-5P | 97.93 | 66.74 | 1808 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
| HSA-MIR-4257 | 97.86 | 68.05 | 1190 |
| HSA-MIR-4433A-5P | 96.79 | 65.01 | 599 |
| HSA-MIR-193A-5P | 95.70 | 65.33 | 613 |
| HSA-MIR-758-5P | 93.99 | 64.46 | 534 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 13.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- RPL41 down-regulation is associated with breast neoplasms. (PMID:20234822)
- we show that RPL41 induces ATF4 phosphorylation and rapid degradation in the proteasome (PMID:21706477)
- Differential gene expression analysis demonstrated significant upregulation of PDZK1IP1, EEF1A2 and RPL41 (ENSG00000279483) genes in the intrahepatic cholangiocarcinoma samples when compared with the matched paratumor samples. (PMID:27082702)
- RPL41 sensitizes retinoblastoma cells to chemotherapeutic drugs via ATF4 degradation. (PMID:32783256)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
Small ribosomal subunit protein eS32 — P62945 (reviewed: P62945)
Alternative names: 60S ribosomal protein L41, HG12, Large ribosomal subunit protein eL41
All UniProt accessions (1): P62945
UniProt curated annotations — full annotation on UniProt →
Function. Component of the small ribosomal subunit (Ref.8). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Interacts with the beta subunit of protein kinase CKII and stimulates phosphorylation of DNA topoisomerase II alpha by CKII.
Subunit / interactions. Component of the small ribosomal subunit.
Subcellular location. Cytoplasm.
Miscellaneous. Initially thought to be part of the large ribosomal subunit. Crystal structures show eS32/eL41 to be a small ribosomal subunit forming a bridge at the interface of the 2 subunits.
Similarity. Belongs to the eukaryotic ribosomal protein eS32 family.
RefSeq proteins (2): NP_001030344, NP_066927 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007836 | Ribosomal_eS32 | Family |
Pfam: PF05162
UniProt features (3 total): chain 1, region of interest 1, helix 1
Structure
Experimental structures (PDB)
185 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-P62945-F1 | 94.52 | 0.86 |
Function
Pathways and Gene Ontology
Reactome pathways
40 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 |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-1430728 | Metabolism |
| R-HSA-156842 | Eukaryotic Translation Elongation |
| R-HSA-1643685 | Disease |
| R-HSA-168255 | Influenza Infection |
| R-HSA-168273 | Influenza Viral RNA Transcription and Replication |
| R-HSA-2262752 | Cellular responses to stress |
| R-HSA-2408522 | Selenoamino acid metabolism |
| R-HSA-376176 | Signaling by ROBO receptors |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-422475 | Axon guidance |
| R-HSA-5663205 | Infectious disease |
| R-HSA-71291 | Metabolism of amino acids and derivatives |
| R-HSA-72312 | rRNA processing |
MSigDB gene sets: 236 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, GNF2_TPT1, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, HSIAO_HOUSEKEEPING_GENES, CREBP1_Q2, AP2_Q3, GOBP_MALE_GAMETE_GENERATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION, CREB_Q4, YGACNNYACAR_UNKNOWN, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_MUSCLE_CONTRACTION
GO Biological Process (2): cytoplasmic translation (GO:0002181), translation (GO:0006412)
GO Molecular Function (5): RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), structural constituent of ribosome (GO:0003735), mRNA 5’-UTR binding (GO:0048027), protein binding (GO:0005515)
GO Cellular Component (6): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), cytosolic large ribosomal subunit (GO:0022625), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| Translation | 3 |
| Ribosome-associated quality control | 3 |
| 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 |
|---|---|
| mRNA binding | 2 |
| cellular anatomical structure | 2 |
| cytoplasm | 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 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| large ribosomal subunit | 1 |
| cytosolic ribosome | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RACK1 | RPS17 | psi-mi:“MI:0915”(physical association) | 0.610 |
| RPL41 | SDCBP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL41 | DAPK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RPL41 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| NUPR1 | RPL41 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RPS17 | psi-mi:“MI:0915”(physical association) | 0.320 | |
| EIF3F | psi-mi:“MI:0915”(physical association) | 0.320 | |
| RPLP0 | psi-mi:“MI:0915”(physical association) | 0.320 | |
| rep | psi-mi:“MI:0915”(physical association) | 0.320 | |
| RPL41 | MAPK14 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RPL41 | SDCBP2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PRNP | RPL41 | psi-mi:“MI:0407”(direct interaction) | 0.000 |
| RPL41 | CTNNB1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| IKBKG | RPL41 | psi-mi:“MI:0407”(direct interaction) | 0.000 |
BioGRID (12): RPL41 (Two-hybrid), RPL41 (Reconstituted Complex), RPL41 (Reconstituted Complex), RPL41 (Two-hybrid), RPL41 (Affinity Capture-RNA), RPL41 (Protein-RNA), RPL41 (Affinity Capture-RNA), RPL41 (Reconstituted Complex), RPL41 (Two-hybrid), RPL41 (Reconstituted Complex), APP (Reconstituted Complex), RPL41 (Biochemical Activity)
ESM2 similar proteins: A0A087WNH4, B1NWE8, E2QXF3, G1T0C1, O49224, O82713, P0A5D0, P0CT81, P0CT82, P0CX86, P0CX87, P40590, P47830, P51417, P61313, P61314, P62120, P62121, P62122, P62123, P62124, P62125, P62945, P62946, P62947, P62948, P62949, P78569, P79324, P9WER7, P9WKT4, P9WKT5, Q4R5B2, Q5EAD6, Q5NVE0, Q5RFG9, Q6YLX4, Q71H53, Q75AH3, Q7KF89
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPL41 | “form complex” | “60S cytosolic large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 13 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 |
|---|---|---|---|
| intracellular signal transduction | 5 | 15.9× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
10 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
321 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:56117159:A:AG | acceptor_gain | 1.0000 |
| 12:56116658:GG:G | donor_gain | 0.9900 |
| 12:56116659:GG:G | donor_gain | 0.9900 |
| 12:56116815:T:TA | donor_gain | 0.9900 |
| 12:56116816:A:AA | donor_gain | 0.9900 |
| 12:56117160:A:G | acceptor_gain | 0.9900 |
| 12:56117161:T:G | acceptor_gain | 0.9900 |
| 12:56117163:A:AG | acceptor_gain | 0.9900 |
| 12:56117163:ATCT:A | acceptor_gain | 0.9900 |
| 12:56117164:T:G | acceptor_gain | 0.9900 |
| 12:56117166:T:TA | acceptor_gain | 0.9900 |
| 12:56117188:G:GA | acceptor_gain | 0.9900 |
| 12:56116656:TTGGG:T | donor_loss | 0.9800 |
| 12:56116657:TGGG:T | donor_loss | 0.9800 |
| 12:56116658:GGGT:G | donor_loss | 0.9800 |
| 12:56116659:GGT:G | donor_loss | 0.9800 |
| 12:56116660:G:C | donor_loss | 0.9800 |
| 12:56116661:T:A | donor_loss | 0.9800 |
| 12:56116797:AAG:A | donor_loss | 0.9800 |
| 12:56116799:GG:G | donor_loss | 0.9800 |
| 12:56116801:T:A | donor_loss | 0.9800 |
| 12:56117476:TTTCA:T | acceptor_loss | 0.9800 |
| 12:56117478:TCAG:T | acceptor_loss | 0.9800 |
| 12:56117479:CAGG:C | acceptor_loss | 0.9800 |
| 12:56117480:A:AG | acceptor_gain | 0.9800 |
| 12:56117480:AGGC:A | acceptor_loss | 0.9800 |
| 12:56117481:G:GG | acceptor_gain | 0.9800 |
| 12:56117481:GGCT:G | acceptor_gain | 0.9800 |
| 12:56116660:G:GG | donor_gain | 0.9700 |
| 12:56116662:GAGTG:G | donor_loss | 0.9700 |
AlphaMissense
160 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:56117194:G:C | R6S | 0.904 |
| 12:56117194:G:T | R6S | 0.904 |
| 12:56117497:A:C | R17S | 0.846 |
| 12:56117497:A:T | R17S | 0.846 |
| 12:56117490:G:C | R15P | 0.838 |
| 12:56117494:A:C | K16N | 0.835 |
| 12:56117494:A:T | K16N | 0.835 |
| 12:56117193:G:C | R6T | 0.820 |
| 12:56117191:G:C | W5C | 0.819 |
| 12:56117191:G:T | W5C | 0.819 |
| 12:56117189:T:A | W5R | 0.804 |
| 12:56117189:T:C | W5R | 0.804 |
| 12:56116793:A:C | R2S | 0.795 |
| 12:56116793:A:T | R2S | 0.795 |
| 12:56117493:A:T | K16I | 0.787 |
| 12:56117488:G:C | K14N | 0.774 |
| 12:56117488:G:T | K14N | 0.774 |
| 12:56117193:G:T | R6M | 0.771 |
| 12:56117202:G:C | R9P | 0.770 |
| 12:56117208:G:C | R11P | 0.760 |
| 12:56117207:C:A | R11S | 0.746 |
| 12:56117489:C:A | R15S | 0.745 |
| 12:56117493:A:C | K16T | 0.721 |
| 12:56117500:A:C | R18S | 0.721 |
| 12:56117500:A:T | R18S | 0.721 |
| 12:56117496:G:C | R17T | 0.716 |
| 12:56116792:G:T | R2I | 0.679 |
| 12:56117492:A:G | K16E | 0.671 |
| 12:56117484:T:C | L13P | 0.668 |
| 12:56117509:G:C | R21S | 0.664 |
dbSNP variants (sampled 300 via entrez): RS1000210094 (12:56115412 C>A,T), RS1000303257 (12:56115764 C>T), RS1001181999 (12:56118101 T>C,G), RS1001226144 (12:56115317 C>T), RS1001692193 (12:56117959 T>C), RS1003447300 (12:56115201 CAAAA>C,CA,CAA), RS1003499716 (12:56115548 C>G), RS1004198045 (12:56116090 G>A), RS1004333921 (12:56116265 G>C), RS1004628577 (12:56118308 G>A), RS1005873643 (12:56114688 G>A), RS1006010029 (12:56114998 T>C), RS1006913707 (12:56114732 GCAGATCAC>G), RS1007918516 (12:56116211 AAAGAAAGAAAG>A), RS1010383857 (12:56115133 T>C)
Disease associations
OMIM: gene MIM:613315 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001156_8 | Systemic sclerosis | 6.000000e-08 |
| GCST004367_1 | Anorexia nervosa | 4.000000e-09 |
| GCST007563_23 | Allergic disease (asthma, hay fever or eczema) | 4.000000e-10 |
| GCST007564_9 | Asthma or allergic disease (pleiotropy) | 1.000000e-13 |
| GCST008916_124 | Asthma | 1.000000e-16 |
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
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 2 |
| Estradiol | decreases expression, decreases reaction, increases reaction | 2 |
| Valproic Acid | increases expression, increases methylation, affects cotreatment | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(2-butoxyethyl) phosphate | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| methylparaben | decreases expression | 1 |
| 3,3’-diindolylmethane | decreases expression, decreases reaction | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | decreases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression, increases expression | 1 |
| Artesunate | decreases response to substance | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression, increases expression | 1 |
| Potassium Dichromate | increases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Tetrachlorodibenzodioxin | decreases expression, increases reaction | 1 |
| Dronabinol | decreases expression | 1 |
| Tobacco Smoke Pollution | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | 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.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): allergic disease, anorexia nervosa, asthma, systemic sclerosis