MRPL11
gene geneOn this page
Also known as uL11m
Summary
MRPL11 (mitochondrial ribosomal protein L11, HGNC:14042) is a protein-coding gene on chromosome 11q13.2, encoding Large ribosomal subunit protein uL11m (Q9Y3B7).
This nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 12.
Source: NCBI Gene 65003 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 27 total
- Druggable target: yes
- MANE Select transcript:
NM_016050
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14042 |
| Approved symbol | MRPL11 |
| Name | mitochondrial ribosomal protein L11 |
| Location | 11q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | uL11m |
| Ensembl gene | ENSG00000174547 |
| Ensembl biotype | protein_coding |
| OMIM | 611826 |
| Entrez | 65003 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 11 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000310999, ENST00000329819, ENST00000430466, ENST00000524576, ENST00000528272, ENST00000534488, ENST00000901138, ENST00000901139, ENST00000916481, ENST00000916482, ENST00000916483, ENST00000916484, ENST00000943610
RefSeq mRNA: 3 — MANE Select: NM_016050
NM_016050, NM_170738, NM_170739
CCDS: CCDS44655, CCDS8139, CCDS8140
Canonical transcript exons
ENST00000310999 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001676168 | 66435075 | 66436112 |
| ENSE00002177786 | 66438632 | 66438848 |
| ENSE00003551268 | 66437350 | 66437443 |
| ENSE00003585913 | 66437104 | 66437263 |
| ENSE00003644681 | 66438164 | 66438259 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 96.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 96.0371 / max 681.0244, expressed in 1822 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 120807 | 96.0371 | 1822 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 96.80 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.95 | gold quality |
| apex of heart | UBERON:0002098 | 95.87 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.51 | gold quality |
| transverse colon | UBERON:0001157 | 94.32 | gold quality |
| muscle of leg | UBERON:0001383 | 94.29 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.17 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.97 | gold quality |
| lower esophagus | UBERON:0013473 | 93.92 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.92 | gold quality |
| rectum | UBERON:0001052 | 93.91 | gold quality |
| right atrium auricular region | UBERON:0006631 | 93.88 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.85 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.73 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.70 | gold quality |
| body of stomach | UBERON:0001161 | 93.60 | gold quality |
| body of pancreas | UBERON:0001150 | 93.48 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.43 | gold quality |
| esophagus | UBERON:0001043 | 93.41 | gold quality |
| muscle organ | UBERON:0001630 | 93.23 | gold quality |
| granulocyte | CL:0000094 | 93.20 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.17 | gold quality |
| left ovary | UBERON:0002119 | 92.90 | gold quality |
| cardiac atrium | UBERON:0002081 | 92.86 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 92.81 | gold quality |
| heart | UBERON:0000948 | 92.76 | gold quality |
| left coronary artery | UBERON:0001626 | 92.67 | gold quality |
| right ovary | UBERON:0002118 | 92.45 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.37 | gold quality |
| popliteal artery | UBERON:0002250 | 92.36 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 10.04 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
35 targeting MRPL11, 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-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-10395-5P | 99.86 | 67.35 | 676 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-593-5P | 99.34 | 69.50 | 965 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-6749-3P | 99.00 | 65.73 | 1443 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-6770-5P | 98.97 | 66.76 | 1853 |
| HSA-MIR-382-3P | 98.83 | 67.10 | 1074 |
| HSA-MIR-3187-5P | 98.36 | 65.74 | 1776 |
| HSA-MIR-1265 | 98.36 | 66.46 | 598 |
| HSA-MIR-506-5P | 98.02 | 67.41 | 1065 |
| HSA-MIR-876-5P | 97.99 | 68.49 | 1345 |
| HSA-MIR-1279 | 97.83 | 67.50 | 1898 |
| HSA-MIR-1285-3P | 97.72 | 67.02 | 1932 |
| HSA-MIR-5189-5P | 97.72 | 66.96 | 1814 |
| HSA-MIR-194-3P | 97.36 | 65.96 | 1027 |
| HSA-MIR-612 | 97.26 | 65.95 | 1597 |
| HSA-MIR-6860 | 97.21 | 66.31 | 1656 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl11 | ENSDARG00000013075 |
| mus_musculus | Mrpl11 | ENSMUSG00000024902 |
| rattus_norvegicus | mrpl11 | ENSRNOG00000019970 |
| drosophila_melanogaster | mRpL11 | FBGN0038234 |
| caenorhabditis_elegans | WBGENE00015133 |
Paralogs (1): RPL12 (ENSG00000197958)
Protein
Protein identifiers
Large ribosomal subunit protein uL11m — Q9Y3B7 (reviewed: Q9Y3B7)
Alternative names: 39S ribosomal protein L11, mitochondrial
All UniProt accessions (3): Q9Y3B7, E9PQB6, H0YCD5
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 universal ribosomal protein uL11 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y3B7-1 | 1 | yes |
| Q9Y3B7-2 | 2 | |
| Q9Y3B7-3 | 3 |
RefSeq proteins (3): NP_057134, NP_733934, NP_733935 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000911 | Ribosomal_uL11 | Family |
| IPR006519 | Ribosomal_uL11_bact | Family |
| IPR020783 | Ribosomal_uL11_C | Domain |
| IPR020784 | Ribosomal_uL11_N | Domain |
| IPR036769 | Ribosomal_uL11_C_sf | Homologous_superfamily |
| IPR036796 | Ribosomal_uL11_N_sf | Homologous_superfamily |
Pfam: PF00298, PF03946
UniProt features (22 total): strand 9, helix 5, turn 2, splice variant 2, sequence conflict 2, transit peptide 1, chain 1
Structure
Experimental structures (PDB)
84 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 |
| 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 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3B7-F1 | 83.87 | 0.33 |
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: 173 (showing top):
STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MITOCHONDRIAL_TRANSLATION, TAL1ALPHAE47_01, chr11q13, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, HNF4_DR1_Q3, GOCC_MITOCHONDRIAL_ENVELOPE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, PPAR_DR1_Q2, WANG_TARGETS_OF_MLL_CBP_FUSION_UP, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, WONG_MITOCHONDRIA_GENE_MODULE, GOCC_LARGE_RIBOSOMAL_SUBUNIT
GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)
GO Molecular Function (4): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), large ribosomal subunit rRNA binding (GO:0070180), 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 |
| rRNA binding | 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
3662 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL11 | MRPL21 | Q7Z2W9 | 825 |
| MRPL11 | MRPL13 | Q9BYD1 | 773 |
| MRPL11 | MRPL17 | Q9NRX2 | 745 |
| MRPL11 | MRPL45 | Q9BRJ2 | 742 |
| MRPL11 | MRPL12 | P52815 | 719 |
| MRPL11 | MRPL19 | P49406 | 700 |
| MRPL11 | MRPL24 | Q96A35 | 689 |
| MRPL11 | MRPL4 | Q9BYD3 | 686 |
| MRPL11 | MRPL44 | Q9H9J2 | 681 |
| MRPL11 | MRPS18B | Q9Y676 | 671 |
| MRPL11 | MRPS22 | P82650 | 651 |
| MRPL11 | MRPS23 | Q9Y3D9 | 637 |
| MRPL11 | MRPL36 | Q9P0J6 | 626 |
| MRPL11 | MRPL41 | Q8IXM3 | 625 |
| MRPL11 | MRPS16 | Q9Y3D3 | 625 |
IntAct
267 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| N | HNRNPR | psi-mi:“MI:0914”(association) | 0.730 |
| MRPL11 | FSD2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TAX1BP1 | MRPL11 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PNMA1 | MRPL11 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MRPL11 | PNMA1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| FSD2 | MRPL11 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| MRPL11 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.700 |
| MTUS2 | MRPL11 | psi-mi:“MI:0915”(physical association) | 0.700 |
| MRPL11 | CAMK2D | psi-mi:“MI:0915”(physical association) | 0.670 |
| MRPL11 | THAP1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| THAP1 | MRPL11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CAMK2D | MRPL11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
BioGRID (505): MRPL11 (Two-hybrid), MRPL11 (Two-hybrid), MRPL11 (Two-hybrid), MRPL11 (Two-hybrid), MRPL11 (Two-hybrid), MRPL11 (Two-hybrid), MRPL11 (Two-hybrid), MRPL11 (Two-hybrid), MRPL11 (Two-hybrid), MRPL11 (Two-hybrid), HMBOX1 (Two-hybrid), FSD2 (Two-hybrid), KRT40 (Two-hybrid), SLC16A9 (Two-hybrid), MRPL11 (Affinity Capture-RNA)
ESM2 similar proteins: A0A1S4BZI5, A0A1S4CB73, A1AX79, A1B011, A9GRA1, C4LBV6, O04603, O82234, P02398, P24929, P27793, P30956, P31164, P36212, P36428, P36688, P41348, P42732, P57720, P82163, P82191, P82192, P82195, Q01908, Q0BYA0, Q2YDI0, Q42884, Q5FTX3, Q5XF75, Q5XIE3, Q6FF94, Q6K471, Q8RXX5, Q8VYL1, Q8VYN6, Q93WI0, Q949U7, Q9CQF0, Q9FGS4, Q9LE95
Diamond homologs: A0B923, A0LRK9, A2BN63, A2STU0, A3CSJ5, A4FW91, A4YH87, A5UKV0, A5UYI4, A6Q1L9, A6UQ78, A6UVR5, A6VH19, A7IAK5, A7NRZ8, A8F4F6, A9A582, A9A9N0, A9BF37, B0R4W3, B0S061, B1L6L2, B1L939, B2A4C6, B4U733, B6YSX7, B7JWT8, B7KJM5, B8D5P9, B8GIY2, B8J1A4, B9L7J2, B9LQE0, C0QQL2, C3MR83, C3MXH2, C3MZB8, C3N7D9, C3NG95, C4KIJ7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL11 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 141 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 | 14 | 20.2× | 2e-12 |
| HSF1-dependent transactivation | 5 | 18.7× | 3e-04 |
| Transcriptional Regulation by MECP2 | 5 | 18.7× | 3e-04 |
| Mitochondrial translation initiation | 11 | 16.4× | 8e-09 |
| Mitochondrial translation elongation | 11 | 16.4× | 8e-09 |
| Oncogenic MAPK signaling | 5 | 14.6× | 6e-04 |
| Mitochondrial translation | 9 | 14.6× | 8e-07 |
| Mitochondrial translation termination | 11 | 14.2× | 3e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 10 | 15.0× | 8e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
27 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1035 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:66436108:TGAGG:T | acceptor_gain | 1.0000 |
| 11:66436109:GAGG:G | acceptor_gain | 1.0000 |
| 11:66436110:AGG:A | acceptor_gain | 1.0000 |
| 11:66436111:GG:G | acceptor_gain | 1.0000 |
| 11:66436113:C:CC | acceptor_gain | 1.0000 |
| 11:66436116:CAAG:C | acceptor_gain | 1.0000 |
| 11:66436119:G:C | acceptor_gain | 1.0000 |
| 11:66436119:G:GC | acceptor_gain | 1.0000 |
| 11:66437098:ACTT:A | donor_loss | 1.0000 |
| 11:66437100:TTACT:T | donor_loss | 1.0000 |
| 11:66437101:TACT:T | donor_loss | 1.0000 |
| 11:66437102:A:AC | donor_gain | 1.0000 |
| 11:66437102:ACT:A | donor_gain | 1.0000 |
| 11:66437102:ACTC:A | donor_gain | 1.0000 |
| 11:66437103:C:CA | donor_gain | 1.0000 |
| 11:66437103:CT:C | donor_gain | 1.0000 |
| 11:66437103:CTC:C | donor_gain | 1.0000 |
| 11:66437103:CTCC:C | donor_gain | 1.0000 |
| 11:66437176:T:TA | donor_gain | 1.0000 |
| 11:66437262:CC:C | acceptor_gain | 1.0000 |
| 11:66437263:CC:C | acceptor_gain | 1.0000 |
| 11:66437264:C:CA | acceptor_loss | 1.0000 |
| 11:66437264:C:CC | acceptor_gain | 1.0000 |
| 11:66437265:T:A | acceptor_loss | 1.0000 |
| 11:66437344:CCTCA:C | donor_loss | 1.0000 |
| 11:66437346:TCA:T | donor_loss | 1.0000 |
| 11:66437347:CACCT:C | donor_loss | 1.0000 |
| 11:66437348:ACC:A | donor_loss | 1.0000 |
| 11:66437444:C:CC | acceptor_gain | 1.0000 |
| 11:66437445:T:C | acceptor_gain | 1.0000 |
AlphaMissense
1220 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:66438224:G:C | F53L | 0.997 |
| 11:66438224:G:T | F53L | 0.997 |
| 11:66438226:A:G | F53L | 0.997 |
| 11:66437205:T:A | K124N | 0.996 |
| 11:66437205:T:G | K124N | 0.996 |
| 11:66437134:G:T | A148D | 0.995 |
| 11:66438225:A:G | F53S | 0.995 |
| 11:66438236:A:C | F49L | 0.995 |
| 11:66438236:A:T | F49L | 0.995 |
| 11:66438238:A:G | F49L | 0.995 |
| 11:66437215:G:T | A121D | 0.994 |
| 11:66437379:G:T | A95D | 0.994 |
| 11:66438237:A:G | F49S | 0.994 |
| 11:66437216:C:G | A121P | 0.993 |
| 11:66437135:C:G | A148P | 0.992 |
| 11:66437380:C:G | A95P | 0.992 |
| 11:66437391:A:G | L91P | 0.992 |
| 11:66438186:A:G | L66P | 0.992 |
| 11:66438636:C:T | G40D | 0.991 |
| 11:66437391:A:T | L91Q | 0.989 |
| 11:66437429:A:C | F78L | 0.989 |
| 11:66437429:A:T | F78L | 0.989 |
| 11:66437431:A:G | F78L | 0.989 |
| 11:66438174:A:G | I70T | 0.988 |
| 11:66438252:A:T | V44D | 0.988 |
| 11:66438649:C:G | G36R | 0.988 |
| 11:66437119:A:G | I153T | 0.987 |
| 11:66437387:C:A | K92N | 0.987 |
| 11:66437387:C:G | K92N | 0.987 |
| 11:66438639:A:T | L39Q | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000105874 (11:66439966 T>A,C), RS1000237913 (11:66438998 C>T), RS1000476721 (11:66436570 T>C), RS1001080073 (11:66440770 G>A), RS1001795683 (11:66439355 G>A), RS1002111114 (11:66437276 A>G), RS1002342383 (11:66434764 G>A), RS1002402179 (11:66434616 G>T), RS1003089127 (11:66438374 C>A,T), RS1003568907 (11:66435665 A>G), RS1003911165 (11:66435759 T>C), RS1005141480 (11:66436368 C>T), RS1005190881 (11:66438326 CG>C), RS1005474889 (11:66437878 A>C), RS1006287739 (11:66437650 A>G)
Disease associations
OMIM: gene MIM:611826 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001241_12 | Bipolar disorder | 2.000000e-07 |
| GCST010204_155 | Low density lipoprotein cholesterol levels | 2.000000e-10 |
| GCST90020028_1911 | Hip circumference adjusted for BMI | 6.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067214 (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 |
|---|---|---|---|---|
| 7.12 | Kd | 76 | nM | CHEMBL5653589 |
| 7.12 | ED50 | 76 | nM | CHEMBL5653589 |
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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148769: Binding affinity to human MRPL11 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0760 | uM |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 3 |
| Acetaminophen | affects cotreatment, decreases expression | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| sodium arsenite | affects binding, increases reaction, decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| arsenite | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ketoconazole | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Ozone | increases abundance, affects expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tunicamycin | decreases expression | 1 |
| Valproic Acid | affects cotreatment, increases expression | 1 |
| Vitamin E | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | 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 |
|---|---|---|---|
| CHEMBL5651811 | Binding | Binding affinity to human MRPL11 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.