MRPS17
gene geneOn this page
Also known as HSPC011RPMS17MRP-S17uS17m
Summary
MRPS17 (mitochondrial ribosomal protein S17, HGNC:14047) is a protein-coding gene on chromosome 7p11.2, encoding Small ribosomal subunit protein uS17m (Q9Y2R5). It is a selective cancer dependency (DepMap: 15.1% of cell lines).
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq.
Source: NCBI Gene 51373 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 22 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 15.1% of screened cell lines
- MANE Select transcript:
NM_015969
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14047 |
| Approved symbol | MRPS17 |
| Name | mitochondrial ribosomal protein S17 |
| Location | 7p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSPC011, RPMS17, MRP-S17, uS17m |
| Ensembl gene | ENSG00000239789 |
| Ensembl biotype | protein_coding |
| OMIM | 611980 |
| Entrez | 51373 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 16 protein_coding
ENST00000285298, ENST00000443449, ENST00000909935, ENST00000909936, ENST00000914644, ENST00000914645, ENST00000914646, ENST00000914647, ENST00000914648, ENST00000914649, ENST00000914650, ENST00000914651, ENST00000914652, ENST00000914653, ENST00000914654, ENST00000943621
RefSeq mRNA: 1 — MANE Select: NM_015969
NM_015969
CCDS: CCDS5520
Canonical transcript exons
ENST00000285298 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001175066 | 55954909 | 55956500 |
| ENSE00001596608 | 55951877 | 55951930 |
| ENSE00003675267 | 55953179 | 55953318 |
Expression profiles
Bgee: expression breadth ubiquitous, 139 present calls, max score 89.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.9950 / max 208.2075, expressed in 1801 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 78763 | 20.6332 | 1801 |
| 78764 | 0.3618 | 194 |
Top tissues by expression
139 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 89.71 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.24 | gold quality |
| muscle of leg | UBERON:0001383 | 89.21 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 89.19 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 88.58 | gold quality |
| muscle tissue | UBERON:0002385 | 86.81 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.59 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.33 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.94 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.45 | gold quality |
| heart | UBERON:0000948 | 84.76 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.50 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 84.25 | gold quality |
| lower esophagus | UBERON:0013473 | 84.18 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.18 | gold quality |
| right lobe of liver | UBERON:0001114 | 84.02 | gold quality |
| frontal cortex | UBERON:0001870 | 83.89 | gold quality |
| right atrium auricular region | UBERON:0006631 | 83.79 | gold quality |
| pancreas | UBERON:0001264 | 83.73 | gold quality |
| cerebral cortex | UBERON:0000956 | 83.64 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 83.64 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 83.52 | gold quality |
| right adrenal gland | UBERON:0001233 | 83.43 | gold quality |
| apex of heart | UBERON:0002098 | 83.31 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 83.29 | gold quality |
| left adrenal gland | UBERON:0001234 | 83.27 | gold quality |
| right frontal lobe | UBERON:0002810 | 83.24 | gold quality |
| cortical plate | UBERON:0005343 | 83.20 | gold quality |
| body of pancreas | UBERON:0001150 | 83.15 | gold quality |
| nucleus accumbens | UBERON:0001882 | 83.07 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.30 |
| E-MTAB-9689 | no | 291.91 |
| E-MTAB-4850 | no | 139.41 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYCN
miRNA regulators (miRDB)
21 targeting MRPS17, 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-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-4738-3P | 98.98 | 67.98 | 1846 |
| HSA-MIR-4638-3P | 97.90 | 65.75 | 905 |
| HSA-MIR-3654 | 96.43 | 66.55 | 646 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 15.1% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrps17 | ENSDARG00000054164 |
| mus_musculus | Mrps17 | ENSMUSG00000034211 |
| rattus_norvegicus | Mrps17 | ENSRNOG00000066020 |
| drosophila_melanogaster | mRpS17 | FBGN0034986 |
| caenorhabditis_elegans | WBGENE00015487 |
Protein
Protein identifiers
Small ribosomal subunit protein uS17m — Q9Y2R5 (reviewed: Q9Y2R5)
Alternative names: 28S ribosomal protein S17, mitochondrial
All UniProt accessions (2): E9PE17, Q9Y2R5
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of the mitochondrial small ribosomal subunit (mt-SSU). 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 universal ribosomal protein uS17 family.
RefSeq proteins (1): NP_057053* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000266 | Ribosomal_uS17 | Family |
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR039193 | Ribosomal_uS17m_metazoa | Family |
Pfam: PF00366
UniProt features (12 total): strand 7, turn 2, transit peptide 1, chain 1, helix 1
Structure
Experimental structures (PDB)
77 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8CSS | ELECTRON MICROSCOPY | 2.36 |
| 7P2E | ELECTRON MICROSCOPY | 2.4 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 9OJM | ELECTRON MICROSCOPY | 2.5 |
| 8CSQ | ELECTRON MICROSCOPY | 2.54 |
| 8CSR | ELECTRON MICROSCOPY | 2.54 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 8CSP | ELECTRON MICROSCOPY | 2.66 |
| 7PNX | ELECTRON MICROSCOPY | 2.76 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 8CST | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7PO0 | ELECTRON MICROSCOPY | 2.9 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 7PO1 | ELECTRON MICROSCOPY | 2.92 |
| 7PO3 | ELECTRON MICROSCOPY | 2.92 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 6VMI | ELECTRON MICROSCOPY | 2.96 |
| 6RW4 | ELECTRON MICROSCOPY | 2.97 |
| 6VLZ | ELECTRON MICROSCOPY | 2.97 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
| 8QRN | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
| 8OIS | ELECTRON MICROSCOPY | 3 |
| 9G5C | ELECTRON MICROSCOPY | 3 |
| 9G5D | ELECTRON MICROSCOPY | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2R5-F1 | 93.08 | 0.78 |
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: 94 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GARY_CD5_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, WONG_MITOCHONDRIA_GENE_MODULE, GOCC_RIBOSOME, GOCC_SMALL_RIBOSOMAL_SUBUNIT, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (4): structural constituent of ribosome (GO:0003735), rRNA binding (GO:0019843), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial small ribosomal subunit (GO:0005763), 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 |
| structural molecule activity | 1 |
| ribosome | 1 |
| RNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar small ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1366 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPS17 | TUBB6 | Q9BUF5 | 654 |
| MRPS17 | CCT6A | P40227 | 634 |
| MRPS17 | MRPS15 | P82914 | 515 |
| MRPS17 | ACOT7 | O00154 | 507 |
| MRPS17 | MRPL45 | Q9BRJ2 | 472 |
| MRPS17 | ZNF713 | Q8N859 | 470 |
| MRPS17 | PGAM4 | Q8N0Y7 | 467 |
| MRPS17 | MRPL12 | P52815 | 461 |
| MRPS17 | NIPSNAP2 | O75323 | 442 |
| MRPS17 | MPV17L2 | Q567V2 | 441 |
| MRPS17 | MRPS18B | Q9Y676 | 432 |
| MRPS17 | PGAM1 | P18669 | 431 |
| MRPS17 | MRPL11 | Q9Y3B7 | 422 |
| MRPS17 | P4HA1 | P13674 | 419 |
| MRPS17 | MRPS27 | Q92552 | 419 |
| MRPS17 | NDRG1 | Q92597 | 419 |
IntAct
84 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIFAP3 | KIF3B | psi-mi:“MI:0914”(association) | 0.900 |
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| FBL | NOP56 | psi-mi:“MI:0914”(association) | 0.800 |
| ERBB3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.700 |
| ESR1 | TRIM24 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPS17 | GRN | psi-mi:“MI:0915”(physical association) | 0.560 |
| MRPS17 | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| MRPS6 | STAT5A | psi-mi:“MI:0914”(association) | 0.550 |
| MRPS18B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18C | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| TFB1M | HSPD1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS15 | PRKACG | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS17 | MRPS22 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS26 | MRPS10 | psi-mi:“MI:0914”(association) | 0.530 |
| AURKAIP1 | NRDC | psi-mi:“MI:0914”(association) | 0.480 |
| EN1 | NFIB | psi-mi:“MI:2364”(proximity) | 0.470 |
| ECSIT | NDUFS2 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | HNRNPDL | psi-mi:“MI:0914”(association) | 0.350 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | TRIM66 | psi-mi:“MI:0914”(association) | 0.350 |
| DLST | psi-mi:“MI:0914”(association) | 0.350 | |
| DND1 | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (272): MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), KIFAP3 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS), MRPS17 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R0IHP4, A2Y5T7, F4K6X0, O22795, O49937, O80361, O80504, O82234, P16180, P17092, P23326, P24613, P30956, P42732, P49163, P51412, P82130, P82137, P82162, P82245, P82248, P82278, P82403, P82413, P82916, P92959, Q5KQI6, Q6NPF9, Q84W65, Q8L7S9, Q8RXX5, Q8VY88, Q8VY91, Q8VZ55, Q8W463, Q94B52, Q96326, Q9ASV6, Q9FHL4, Q9FJP3
Diamond homologs: A0KRN3, A0LIJ9, A0Q4J2, A0T0I8, A0T0Y2, A1S227, A1TYK6, A1V894, A1VEA7, A2C4Z0, A2S7I5, A3MRW3, A3NEH0, A3P0A4, A3Q991, A4IZS5, A4JAP9, A4SUX0, A4VHN9, A4XZ81, A5FZV6, A5IHQ5, A5IM92, A5USI0, A6LLM2, A6UZJ7, A7N9T4, A7NR54, A8F4S0, A8G1D9, A8ZV66, A9BH96, B0RU73, B0U0Y0, B0U5K8, B1LBN1, B1XSR0, B1YRN8, B2I8H8, B2SDX6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPS17 | “form complex” | “28S mitochondrial small ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 106 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 translation | 18 | 31.8× | 8e-21 |
| Mitochondrial translation initiation | 19 | 30.9× | 1e-21 |
| Mitochondrial translation elongation | 19 | 30.9× | 1e-21 |
| Mitochondrial ribosome-associated quality control | 19 | 29.9× | 2e-21 |
| Mitochondrial translation termination | 19 | 26.8× | 1e-20 |
| Translation | 21 | 16.7× | 1e-18 |
| rRNA processing | 5 | 9.4× | 8e-03 |
| Mitochondrial protein degradation | 6 | 8.8× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 19 | 33.3× | 2e-21 |
| translation | 12 | 12.5× | 8e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
22 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
439 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:55951929:AG:A | donor_loss | 1.0000 |
| 7:55951932:T:A | donor_loss | 1.0000 |
| 7:55953173:TTTCA:T | acceptor_loss | 1.0000 |
| 7:55953174:TTCA:T | acceptor_loss | 1.0000 |
| 7:55953174:TTCAG:T | acceptor_loss | 1.0000 |
| 7:55953175:TCAGG:T | acceptor_loss | 1.0000 |
| 7:55953176:CAGGT:C | acceptor_loss | 1.0000 |
| 7:55953177:AGGTG:A | acceptor_loss | 1.0000 |
| 7:55953178:G:T | acceptor_loss | 1.0000 |
| 7:55953315:AAAG:A | donor_loss | 1.0000 |
| 7:55953316:AAGG:A | donor_loss | 1.0000 |
| 7:55953319:GT:G | donor_loss | 1.0000 |
| 7:55953320:T:G | donor_loss | 1.0000 |
| 7:55954905:ACAG:A | acceptor_loss | 1.0000 |
| 7:55954906:CAGT:C | acceptor_loss | 1.0000 |
| 7:55954907:A:AG | acceptor_gain | 1.0000 |
| 7:55954907:A:T | acceptor_loss | 1.0000 |
| 7:55954908:G:GC | acceptor_gain | 1.0000 |
| 7:55954908:G:GG | acceptor_gain | 1.0000 |
| 7:55954908:G:T | acceptor_loss | 1.0000 |
| 7:55954908:GT:G | acceptor_gain | 1.0000 |
| 7:55954908:GTA:G | acceptor_gain | 1.0000 |
| 7:55954908:GTATT:G | acceptor_gain | 1.0000 |
| 7:55951927:GGAG:G | donor_gain | 0.9900 |
| 7:55951928:GAG:G | donor_gain | 0.9900 |
| 7:55951928:GAGG:G | donor_gain | 0.9900 |
| 7:55951931:G:GG | donor_gain | 0.9900 |
| 7:55951933:GAG:G | donor_loss | 0.9900 |
| 7:55953177:A:AG | acceptor_gain | 0.9900 |
| 7:55953177:AGGT:A | acceptor_gain | 0.9900 |
AlphaMissense
826 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:55954937:C:A | A51D | 0.996 |
| 7:55953238:G:T | G15W | 0.994 |
| 7:55953272:C:A | A26D | 0.994 |
| 7:55954970:A:T | D62V | 0.994 |
| 7:55954967:G:T | G61V | 0.993 |
| 7:55954976:T:A | V64E | 0.993 |
| 7:55954982:T:A | L66H | 0.993 |
| 7:55953238:G:A | G15R | 0.991 |
| 7:55953238:G:C | G15R | 0.991 |
| 7:55953239:G:A | G15E | 0.991 |
| 7:55954970:A:C | D62A | 0.991 |
| 7:55954979:T:C | L65P | 0.990 |
| 7:55954969:G:C | D62H | 0.988 |
| 7:55954970:A:G | D62G | 0.988 |
| 7:55953239:G:T | G15V | 0.987 |
| 7:55955039:T:A | V85D | 0.986 |
| 7:55954982:T:C | L66P | 0.984 |
| 7:55953271:G:C | A26P | 0.983 |
| 7:55953278:T:A | V28E | 0.983 |
| 7:55954959:C:G | C58W | 0.982 |
| 7:55955051:G:T | G89V | 0.980 |
| 7:55953244:G:A | V17M | 0.979 |
| 7:55954957:T:C | C58R | 0.979 |
| 7:55954982:T:G | L66R | 0.979 |
| 7:55953245:T:A | V17E | 0.977 |
| 7:55955021:A:C | H79P | 0.976 |
| 7:55954909:T:G | Y42D | 0.975 |
| 7:55954969:G:T | D62Y | 0.975 |
| 7:55955020:C:G | H79D | 0.975 |
| 7:55954966:G:A | G61R | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000605941 (7:55956426 A>G), RS1000720848 (7:55956381 A>C), RS1001936043 (7:55951714 C>G), RS1002310820 (7:55951433 C>T), RS1002833693 (7:55954098 A>G), RS1003976141 (7:55951866 G>A), RS1004264508 (7:55951748 G>C,T), RS1004349149 (7:55950979 G>A,T), RS1004634846 (7:55955578 C>T), RS1004673128 (7:55952024 T>A), RS1005385890 (7:55950230 G>A,T), RS1006058414 (7:55952978 G>A), RS1006308926 (7:55956806 C>T), RS1006673906 (7:55954496 G>A,T), RS1006788173 (7:55953587 C>T)
Disease associations
OMIM: gene MIM:611980 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007382_28 | Plasma free amino acid levels (adjusted for twenty other PFAAs) | 4.000000e-20 |
| GCST007385_22 | Plasma free amino acid levels | 2.000000e-16 |
| GCST012251_16 | Macular telangiectasia type 2 | 3.000000e-07 |
| GCST012252_7 | Macular telangiectasia type 2 | 6.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005134 | amino acid measurement |
| EFO:0009774 | serine measurement |
| EFO:1002009 | macular telangiectasia type 2 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067387 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.54 | Kd | 28.48 | nM | CHEMBL5653589 |
| 7.52 | ED50 | 30.46 | nM | CHEMBL5653589 |
| 6.41 | Kd | 393.3 | nM | CHEMBL3752910 |
| 6.38 | ED50 | 420.7 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148774: Binding affinity to human MRPS17 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0285 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148774: Binding affinity to human MRPS17 incubated for 45 mins by Kinobead based pull down assay | kd | 0.3933 | uM |
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol F | affects cotreatment, increases expression | 2 |
| bisphenol A | decreases expression | 2 |
| Leflunomide | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| glycidyl methacrylate | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| azoxystrobin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| pyrimidifen | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| picoxystrobin | increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Gasoline | decreases expression, increases abundance, affects cotreatment | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | increases expression, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | increases abundance, affects cotreatment, decreases 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 |
|---|---|---|---|
| CHEMBL5651816 | Binding | Binding affinity to human MRPS17 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.