MRPL9
gene geneOn this page
Also known as bL9m
Summary
MRPL9 (mitochondrial ribosomal protein L9, HGNC:14277) is a protein-coding gene on chromosome 1q21.3, encoding Large ribosomal subunit protein bL9m (Q9BYD2). It is a selective cancer dependency (DepMap: 40.1% of cell lines).
This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.
Source: NCBI Gene 65005 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 70 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 40.1% of screened cell lines
- MANE Select transcript:
NM_031420
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14277 |
| Approved symbol | MRPL9 |
| Name | mitochondrial ribosomal protein L9 |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bL9m |
| Ensembl gene | ENSG00000143436 |
| Ensembl biotype | protein_coding |
| OMIM | 611824 |
| Entrez | 65005 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 4 nonsense_mediated_decay, 3 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000368829, ENST00000368830, ENST00000461182, ENST00000462783, ENST00000467306, ENST00000468006, ENST00000478926, ENST00000481777, ENST00000486707, ENST00000492684, ENST00000495867
RefSeq mRNA: 2 — MANE Select: NM_031420
NM_001300733, NM_031420
CCDS: CCDS1003, CCDS72916
Canonical transcript exons
ENST00000368830 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001819085 | 151759647 | 151760181 |
| ENSE00001941155 | 151763327 | 151763496 |
| ENSE00003533593 | 151760816 | 151760899 |
| ENSE00003544764 | 151762105 | 151762155 |
| ENSE00003568110 | 151762990 | 151763146 |
| ENSE00003585016 | 151761451 | 151761552 |
| ENSE00003674457 | 151762376 | 151762500 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 97.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.5274 / max 363.7967, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14458 | 59.5252 | 1821 |
| 14457 | 1.0021 | 420 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endometrium epithelium | UBERON:0004811 | 97.90 | gold quality |
| parotid gland | UBERON:0001831 | 97.35 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.96 | gold quality |
| ventricular zone | UBERON:0003053 | 96.94 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.82 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.51 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.39 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 96.36 | gold quality |
| thyroid gland | UBERON:0002046 | 96.11 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.86 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.71 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.68 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.67 | gold quality |
| body of uterus | UBERON:0009853 | 95.60 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.58 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.52 | gold quality |
| body of pancreas | UBERON:0001150 | 95.49 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.49 | gold quality |
| skin of leg | UBERON:0001511 | 95.47 | gold quality |
| prostate gland | UBERON:0002367 | 95.44 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 95.44 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.43 | gold quality |
| biceps brachii | UBERON:0001507 | 95.42 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 95.40 | gold quality |
| vastus lateralis | UBERON:0001379 | 95.40 | gold quality |
| spleen | UBERON:0002106 | 95.36 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.33 | gold quality |
| right lung | UBERON:0002167 | 95.30 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.28 | gold quality |
| embryo | UBERON:0000922 | 95.27 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
25 targeting MRPL9, 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-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-520F-5P | 99.34 | 70.40 | 1632 |
| HSA-MIR-10522-5P | 99.26 | 68.50 | 2087 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-6071 | 99.16 | 67.77 | 1780 |
| HSA-MIR-6807-3P | 99.15 | 69.23 | 1275 |
| HSA-MIR-1843 | 98.97 | 66.07 | 838 |
| HSA-MIR-4802-5P | 98.97 | 66.26 | 833 |
| HSA-MIR-4272 | 98.76 | 68.74 | 1810 |
| HSA-MIR-4742-3P | 98.73 | 69.82 | 1803 |
| HSA-MIR-4646-3P | 98.65 | 66.98 | 693 |
| HSA-MIR-2117 | 98.48 | 67.97 | 1307 |
| HSA-MIR-4778-5P | 97.96 | 68.06 | 1634 |
| HSA-MIR-6828-3P | 96.06 | 67.61 | 1155 |
| HSA-MIR-4433B-5P | 95.91 | 66.56 | 727 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 40.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- Interaction of MRPL9 and GGCT Promotes Cell Proliferation and Migration by Activating the MAPK/ERK Pathway in Papillary Thyroid Cancer. (PMID:36233293)
- Identification of a novel therapeutic target for lung cancer: Mitochondrial ribosome protein L9. (PMID:37343379)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl9 | ENSDARG00000063249 |
| mus_musculus | Mrpl9 | ENSMUSG00000028140 |
| rattus_norvegicus | mrpl9 | ENSRNOG00000020869 |
| drosophila_melanogaster | mRpL9 | FBGN0038319 |
| caenorhabditis_elegans | mrpl-9 | WBGENE00015025 |
Protein
Protein identifiers
Large ribosomal subunit protein bL9m — Q9BYD2 (reviewed: Q9BYD2)
Alternative names: 39S ribosomal protein L9, mitochondrial
All UniProt accessions (7): Q9BYD2, A0A1W2PPE5, A0A1W2PPK1, A0A1W2PQB6, A0A1W2PRK9, A0A1W2PS92, Q5SZR1
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
Subcellular location. Mitochondrion.
Similarity. Belongs to the bacterial ribosomal protein bL9 family.
RefSeq proteins (2): NP_001287662, NP_113608* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000244 | Ribosomal_bL9 | Family |
| IPR009027 | Ribosomal_bL9/RNase_H1_N | Homologous_superfamily |
| IPR020070 | Ribosomal_bL9_N | Domain |
| IPR036935 | Ribosomal_bL9_N_sf | Homologous_superfamily |
| IPR054302 | Ribosomal_bL9m_C | Domain |
| IPR056864 | MRP-L9_N | Domain |
Pfam: PF01281, PF22078, PF25131
UniProt features (17 total): strand 7, helix 4, turn 2, sequence variant 2, transit peptide 1, chain 1
Structure
Experimental structures (PDB)
86 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OF0 | ELECTRON MICROSCOPY | 2.2 |
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 8QU5 | ELECTRON MICROSCOPY | 2.42 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 7OF7 | ELECTRON MICROSCOPY | 2.5 |
| 7PO4 | ELECTRON MICROSCOPY | 2.56 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7O9M | ELECTRON MICROSCOPY | 2.6 |
| 7OF6 | ELECTRON MICROSCOPY | 2.6 |
| 9CN3 | ELECTRON MICROSCOPY | 2.62 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 7OF2 | ELECTRON MICROSCOPY | 2.7 |
| 7OF3 | ELECTRON MICROSCOPY | 2.7 |
| 7OF4 | ELECTRON MICROSCOPY | 2.7 |
| 8QU1 | ELECTRON MICROSCOPY | 2.74 |
| 9PR4 | ELECTRON MICROSCOPY | 2.77 |
| 9PRA | ELECTRON MICROSCOPY | 2.83 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7QH7 | ELECTRON MICROSCOPY | 2.89 |
| 7ODR | ELECTRON MICROSCOPY | 2.9 |
| 7OF5 | ELECTRON MICROSCOPY | 2.9 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 8OIT | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 6VMI | ELECTRON MICROSCOPY | 2.96 |
| 6VLZ | ELECTRON MICROSCOPY | 2.97 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BYD2-F1 | 82.36 | 0.61 |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-5368286 | Mitochondrial translation initiation |
| R-HSA-5389840 | Mitochondrial translation elongation |
| R-HSA-5419276 | Mitochondrial translation termination |
| R-HSA-9937383 | Mitochondrial ribosome-associated quality control |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5368287 | Mitochondrial translation |
| R-HSA-72766 | Translation |
MSigDB gene sets: 171 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, MORF_MTA1, MORF_UBE2I, MORF_HDAC1, MORF_UBE2N, GOBP_MITOCHONDRIAL_TRANSLATION, MORF_RAD21, MORF_HDAC2, VETTER_TARGETS_OF_PRKCA_AND_ETS1_DN, GOBP_TRANSLATION, MORF_SKP1A, MORF_RAF1, MORF_CCNI, MORF_CTBP1, MORF_RAB6A
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ribosome (GO:0005761), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 4 |
| Translation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| nucleic acid binding | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar ribosome | 1 |
| mitochondrial matrix | 1 |
| organellar large ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2153 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL9 | MRPL47 | Q9HD33 | 661 |
| MRPL9 | MRPS10 | P82664 | 614 |
| MRPL9 | MRPL24 | Q96A35 | 604 |
| MRPL9 | MRPL21 | Q7Z2W9 | 595 |
| MRPL9 | MRPL19 | P49406 | 589 |
| MRPL9 | MRPL23 | Q16540 | 585 |
| MRPL9 | A8MYK1 | A8MYK1 | 556 |
| MRPL9 | MRPL13 | Q9BYD1 | 551 |
| MRPL9 | MRPL17 | Q9NRX2 | 542 |
| MRPL9 | MRPL11 | Q9Y3B7 | 540 |
| MRPL9 | MRPL12 | P52815 | 535 |
| MRPL9 | MRPL2 | Q5T653 | 534 |
| MRPL9 | MRPL36 | Q9P0J6 | 530 |
| MRPL9 | MRPL20 | Q9BYC9 | 521 |
| MRPL9 | MRPL3 | P09001 | 515 |
IntAct
194 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YBX1 | HNRNPR | psi-mi:“MI:0914”(association) | 0.770 |
| EZH2 | EPOP | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MRPL37 | HSPD1 | psi-mi:“MI:0914”(association) | 0.710 |
| MALSU1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM9B | MRPL9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPL9 | FAM9B | psi-mi:“MI:0915”(physical association) | 0.560 |
| HNRNPK | MRPL9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDC37 | MRPL9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL10 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL42 | GATC | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL28 | MRPL3 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL41 | MRPL3 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| THAP3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| HNRNPA1 | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| IGF2BP3 | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL13 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (306): FAM9B (Two-hybrid), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS)
ESM2 similar proteins: A6QPQ5, A9X1A9, O95707, P0C2C1, P82664, P82670, P82675, P82915, P82919, P82933, Q08BI9, Q0P5E7, Q0VFH6, Q2KIB9, Q2KID9, Q2KIJ6, Q2TBK2, Q2TBR2, Q3MHY7, Q3SYS0, Q3T040, Q58DQ5, Q58DV5, Q5C9Z4, Q5R7B0, Q5REJ1, Q5REY4, Q5RFM3, Q641X9, Q7Z2W9, Q7Z7H8, Q8N3Z3, Q8TCC3, Q924T2, Q99N85, Q99N87, Q99N94, Q9BSH4, Q9BYD2, Q9BYD6
Diamond homologs: A0LAG5, A0LWU2, A0M0D9, A0Q6H2, A0Q8Y8, A0R7F6, A1AM21, A1SA57, A1THY4, A1U390, A1US53, A1WUS4, A3D8Q2, A3QI49, A4QI23, A4T4P0, A4VQM7, A4XQ00, A5FE75, A5FYN6, A5W9R5, A6H0P1, A6KWD5, A6WJ82, A7H6J2, A8FR98, A8H8K9, A9B527, A9IRT7, A9L123, A9X1A9, B0K5L4, B0K8F8, B0KKY0, B0RUY7, B0RZP8, B0TUU6, B0U5H0, B1MMH9, B1XN09
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL9 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 156 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 |
|---|---|---|---|
| Mitochondrial ribosome-associated quality control | 39 | 39.9× | 5e-52 |
| Mitochondrial translation | 33 | 37.8× | 5e-43 |
| Mitochondrial translation initiation | 35 | 37.0× | 3e-45 |
| Mitochondrial translation elongation | 35 | 37.0× | 3e-45 |
| Mitochondrial translation termination | 35 | 32.0× | 8e-43 |
| Translation | 36 | 18.6× | 1e-34 |
| Transport of Mature Transcript to Cytoplasm | 5 | 15.9× | 2e-04 |
| Peptide chain elongation | 14 | 14.8× | 2e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 38 | 45.5× | 1e-51 |
| mitochondrial large ribosomal subunit assembly | 5 | 34.2× | 5e-05 |
| translation | 32 | 22.7× | 4e-32 |
| cytoplasmic translation | 14 | 17.9× | 1e-11 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 11.8× | 3e-04 |
| negative regulation of translation | 7 | 9.5× | 1e-03 |
| mRNA processing | 9 | 4.9× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
915 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:151760811:CTCA:C | donor_loss | 1.0000 |
| 1:151760812:TCA:T | donor_loss | 1.0000 |
| 1:151760813:CA:C | donor_loss | 1.0000 |
| 1:151760814:A:AC | donor_gain | 1.0000 |
| 1:151760814:A:AG | donor_loss | 1.0000 |
| 1:151760815:C:A | donor_loss | 1.0000 |
| 1:151760815:C:CC | donor_gain | 1.0000 |
| 1:151760815:CCGT:C | donor_gain | 1.0000 |
| 1:151760895:CCAAG:C | acceptor_gain | 1.0000 |
| 1:151760896:CAAG:C | acceptor_gain | 1.0000 |
| 1:151760896:CAAGC:C | acceptor_gain | 1.0000 |
| 1:151760897:AAG:A | acceptor_gain | 1.0000 |
| 1:151760898:AG:A | acceptor_gain | 1.0000 |
| 1:151760899:GC:G | acceptor_loss | 1.0000 |
| 1:151760900:C:CC | acceptor_gain | 1.0000 |
| 1:151761445:A:AC | donor_gain | 1.0000 |
| 1:151761446:C:CC | donor_gain | 1.0000 |
| 1:151761446:CT:C | donor_gain | 1.0000 |
| 1:151761446:CTCA:C | donor_gain | 1.0000 |
| 1:151761449:A:AC | donor_gain | 1.0000 |
| 1:151761450:C:CC | donor_gain | 1.0000 |
| 1:151761450:CATT:C | donor_gain | 1.0000 |
| 1:151761549:CTGT:C | acceptor_gain | 1.0000 |
| 1:151762151:CTCAG:C | acceptor_gain | 1.0000 |
| 1:151762153:CAG:C | acceptor_gain | 1.0000 |
| 1:151762155:GCTAG:G | acceptor_loss | 1.0000 |
| 1:151762156:C:CA | acceptor_loss | 1.0000 |
| 1:151762156:C:CC | acceptor_gain | 1.0000 |
| 1:151762362:T:TA | donor_gain | 1.0000 |
| 1:151762370:GCTCA:G | donor_loss | 1.0000 |
AlphaMissense
1692 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:151761473:A:T | V189D | 0.995 |
| 1:151761495:A:G | W182R | 0.994 |
| 1:151761495:A:T | W182R | 0.994 |
| 1:151760144:A:T | V237D | 0.993 |
| 1:151761493:C:A | W182C | 0.991 |
| 1:151761493:C:G | W182C | 0.991 |
| 1:151760827:A:G | C221R | 0.990 |
| 1:151760886:A:T | V201D | 0.989 |
| 1:151762425:G:T | A129D | 0.988 |
| 1:151763013:A:G | L96P | 0.988 |
| 1:151763013:A:T | L96H | 0.988 |
| 1:151761539:A:G | L167P | 0.984 |
| 1:151760156:A:T | V233E | 0.983 |
| 1:151761467:C:G | R191P | 0.983 |
| 1:151762452:C:G | R120P | 0.982 |
| 1:151760825:A:C | C221W | 0.981 |
| 1:151760134:A:C | F240L | 0.980 |
| 1:151760134:A:T | F240L | 0.980 |
| 1:151760136:A:G | F240L | 0.980 |
| 1:151760180:A:T | V225E | 0.979 |
| 1:151762455:C:T | G119D | 0.979 |
| 1:151760892:A:T | V199D | 0.977 |
| 1:151763007:A:T | L98Q | 0.976 |
| 1:151761494:C:A | W182L | 0.975 |
| 1:151760820:A:T | V223E | 0.974 |
| 1:151761524:A:G | L172P | 0.974 |
| 1:151761539:A:T | L167Q | 0.974 |
| 1:151763128:G:T | R58S | 0.974 |
| 1:151763062:A:C | Y80D | 0.973 |
| 1:151760150:A:T | M235K | 0.971 |
dbSNP variants (sampled 300 via entrez): RS1000681460 (1:151761067 T>C), RS1001020223 (1:151759515 A>C), RS1001105807 (1:151765278 T>C), RS1001130916 (1:151764478 C>G,T), RS1001159552 (1:151764943 C>T), RS1001225777 (1:151764007 G>C), RS1002357469 (1:151759484 ACAT>A), RS1003456080 (1:151761349 G>A,C), RS1003809841 (1:151761658 A>G), RS1004579396 (1:151761766 G>C), RS1004637141 (1:151761821 A>C), RS1004990215 (1:151761500 A>C), RS1005486035 (1:151763218 C>A,T), RS1005807516 (1:151764754 A>AGAT), RS1006249179 (1:151759918 G>A,C)
Disease associations
OMIM: gene MIM:611824 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008916_130 | Asthma | 1.000000e-12 |
| GCST008916_88 | Asthma | 1.000000e-25 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067282 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.02 | Kd | 9584 | nM | CHEMBL3752910 |
| 5.02 | ED50 | 9584 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149973: Binding affinity to human MRPL9 incubated for 45 mins by Kinobead based pull down assay | kd | 9.5843 | uM |
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression | 2 |
| Tretinoin | affects cotreatment, decreases expression | 2 |
| Valproic Acid | decreases expression, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | affects cotreatment, decreases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| STA 9090 | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Vitamin E | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Particulate Matter | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5653015 | Binding | Binding affinity to human MRPL9 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.