ACOT1
gene geneOn this page
Also known as ACH2CTE-1LACH2
Summary
ACOT1 (acyl-CoA thioesterase 1, HGNC:33128) is a protein-coding gene on chromosome 14q24.3, encoding Acyl-coenzyme A thioesterase 1 (Q86TX2). Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels.
Enables fatty acyl-CoA hydrolase activity. Involved in acyl-CoA metabolic process; long-chain fatty acid metabolic process; and very long-chain fatty acid metabolic process. Located in cytosol.
Source: NCBI Gene 641371 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 234 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_001037161
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:33128 |
| Approved symbol | ACOT1 |
| Name | acyl-CoA thioesterase 1 |
| Location | 14q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ACH2, CTE-1, LACH2 |
| Ensembl gene | ENSG00000184227 |
| Ensembl biotype | protein_coding |
| OMIM | 614313 |
| Entrez | 641371 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000311148, ENST00000557556
RefSeq mRNA: 1 — MANE Select: NM_001037161
NM_001037161
CCDS: CCDS32117
Canonical transcript exons
ENST00000311148 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000911930 | 73543050 | 73543796 |
| ENSE00001197558 | 73537143 | 73537878 |
| ENSE00001763751 | 73541493 | 73541695 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 88.05.
FANTOM5 (CAGE): breadth broad, TPM avg 0.8434 / max 111.2100, expressed in 358 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 140539 | 0.4449 | 195 |
| 140541 | 0.1344 | 62 |
| 140538 | 0.1229 | 32 |
| 140540 | 0.0731 | 31 |
| 140542 | 0.0680 | 29 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.05 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.82 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.48 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 85.63 | gold quality |
| heart left ventricle | UBERON:0002084 | 84.96 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.42 | gold quality |
| liver | UBERON:0002107 | 84.40 | gold quality |
| muscle of leg | UBERON:0001383 | 84.11 | gold quality |
| apex of heart | UBERON:0002098 | 83.83 | gold quality |
| mucosa of stomach | UBERON:0001199 | 83.05 | gold quality |
| heart | UBERON:0000948 | 82.98 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 82.69 | gold quality |
| right adrenal gland | UBERON:0001233 | 82.05 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 81.95 | gold quality |
| lower esophagus | UBERON:0013473 | 81.94 | gold quality |
| left coronary artery | UBERON:0001626 | 81.77 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 81.67 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 81.60 | gold quality |
| right atrium auricular region | UBERON:0006631 | 81.33 | gold quality |
| popliteal artery | UBERON:0002250 | 81.28 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 81.27 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 81.25 | gold quality |
| tibial artery | UBERON:0007610 | 81.23 | gold quality |
| left adrenal gland | UBERON:0001234 | 81.19 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 80.86 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 80.76 | gold quality |
| adipose tissue | UBERON:0001013 | 80.44 | gold quality |
| omental fat pad | UBERON:0010414 | 78.93 | gold quality |
| adrenal gland | UBERON:0002369 | 78.85 | gold quality |
| duodenum | UBERON:0002114 | 78.53 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 17.45 |
| E-MTAB-6142 | no | 166.67 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting ACOT1, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-3688-5P | 99.12 | 69.67 | 1091 |
| HSA-MIR-603 | 98.58 | 68.28 | 1603 |
| HSA-MIR-4717-5P | 98.19 | 67.97 | 894 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-4670-3P | 97.37 | 68.35 | 1378 |
| HSA-MIR-6734-5P | 95.70 | 65.56 | 950 |
Literature-anchored findings (GeneRIF, showing 4)
- that increased expression of ACOT1 is correlated with pivotal clinicopathological parameters and poor prognosis in gastric adenocarcinoma through increased expression of the potential tumor-promoting protein GLI3 (PMID:29555575)
- The Thioesterase ACOT1 as a Regulator of Lipid Metabolism in Type 2 Diabetes Detected in a Multi-Omics Study of Human Liver. (PMID:34520261)
- Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication. (PMID:35215835)
- Genes ACOT1, GSTM1, SIGLEC14 and UGT2B17 are identified as highly absent genes in gastric cancer population. (PMID:36109518)
Cross-species orthologs
16 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | acot20 | ENSDARG00000042510 |
| danio_rerio | acot21 | ENSDARG00000042513 |
| danio_rerio | acot22 | ENSDARG00000058945 |
| mus_musculus | Acot2 | ENSMUSG00000021226 |
| mus_musculus | Acot3 | ENSMUSG00000021228 |
| mus_musculus | Acot5 | ENSMUSG00000042540 |
| mus_musculus | Acot1 | ENSMUSG00000072949 |
| rattus_norvegicus | Acot2 | ENSRNOG00000010134 |
| rattus_norvegicus | Acot3 | ENSRNOG00000027960 |
| rattus_norvegicus | Acot5 | ENSRNOG00000032508 |
| rattus_norvegicus | Acot5 | ENSRNOG00000053460 |
| rattus_norvegicus | Acot1 | ENSRNOG00000055221 |
| caenorhabditis_elegans | C31H5.6 | WBGENE00007857 |
| caenorhabditis_elegans | WBGENE00019404 | |
| caenorhabditis_elegans | T05E7.1 | WBGENE00020258 |
| caenorhabditis_elegans | W03D8.8 | WBGENE00020989 |
Paralogs (4): ACOT2 (ENSG00000119673), BAAT (ENSG00000136881), ACOT4 (ENSG00000177465), ACOT6 (ENSG00000205669)
Protein
Protein identifiers
Acyl-coenzyme A thioesterase 1 — Q86TX2 (reviewed: Q86TX2)
Alternative names: CTE-I, CTE-Ib, Inducible cytosolic acyl-coenzyme A thioester hydrolase, Long chain acyl-CoA thioester hydrolase, Palmitoyl-coenzyme A thioesterase
All UniProt accessions (3): E9KL42, G3V4F2, Q86TX2
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels. More active towards saturated and unsaturated long chain fatty acyl-CoAs (C12-C20).
Subunit / interactions. Monomer.
Subcellular location. Cytoplasm. Cytosol.
Pathway. Lipid metabolism; fatty acid metabolism.
Similarity. Belongs to the C/M/P thioester hydrolase family.
RefSeq proteins (1): NP_001032238* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006862 | Thio_Ohase/aa_AcTrfase | Domain |
| IPR014940 | BAAT_C | Domain |
| IPR016662 | Acyl-CoA_thioEstase_long-chain | Family |
| IPR029058 | AB_hydrolase_fold | Homologous_superfamily |
| IPR042490 | Thio_Ohase/BAAT_N | Homologous_superfamily |
Pfam: PF04775, PF08840
Enzyme classification (BRENDA):
- EC 3.1.2.2 — palmitoyl-CoA hydrolase (BRENDA: 40 organisms, 184 substrates, 159 inhibitors, 142 Km, 46 kcat entries)
Substrate kinetics (BRENDA)
34 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| HEXADECANOYL-COA | — | 26 |
| DODECANOYL-COA | 0.0018–0.325 | 12 |
| LAUROYL-COA | 0.0385–0.185 | 10 |
| OLEOYL-COA | 0.0014–0.0088 | 8 |
| TETRADECANOYL-COA | 0.0016–0.024 | 8 |
| ARACHIDONOYL-COA | 0.0004–0.0092 | 6 |
| DECANOYL-COA | 0.0027–0.067 | 6 |
| P-NITROPHENYL BUTYRATE | 0.61–1.88 | 6 |
| PALMITOLEOYL-COA | 0.0014–0.058 | 6 |
| N-CARBOBENZOXY-L-TYROSINE P-NITROPHENYL ESTER | 0.043–0.174 | 5 |
| OCTADECANOYL-COA | 0.0004–0.034 | 5 |
| OCTANOYL-COA | 0.007–0.118 | 5 |
| EICOSANOYL-COA | 0.0004–0.0048 | 3 |
| HEXANOYL-COA | 0.0055–0.077 | 3 |
| PALMITOYL-COA | 0.0033–0.023 | 3 |
Catalyzed reactions (Rhea), 9 shown:
- hexadecanoyl-CoA + H2O = hexadecanoate + CoA + H(+) (RHEA:16645)
- dodecanoyl-CoA + H2O = dodecanoate + CoA + H(+) (RHEA:30135)
- octadecanoyl-CoA + H2O = octadecanoate + CoA + H(+) (RHEA:30139)
- decanoyl-CoA + H2O = decanoate + CoA + H(+) (RHEA:40059)
- tetradecanoyl-CoA + H2O = tetradecanoate + CoA + H(+) (RHEA:40119)
- (9Z)-hexadecenoyl-CoA + H2O = (9Z)-hexadecenoate + CoA + H(+) (RHEA:40131)
- (9Z)-octadecenoyl-CoA + H2O = (9Z)-octadecenoate + CoA + H(+) (RHEA:40139)
- eicosanoyl-CoA + H2O = eicosanoate + CoA + H(+) (RHEA:40147)
- (9E)-octadecenoyl-CoA + H2O = (9E)-octadecenoate + CoA + H(+) (RHEA:40723)
UniProt features (6 total): active site 3, initiator methionine 1, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86TX2-F1 | 96.65 | 0.96 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 232 (charge relay system); 326 (charge relay system); 360 (charge relay system)
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-77289 | Mitochondrial Fatty Acid Beta-Oxidation |
| R-HSA-1430728 | Metabolism |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-8978868 | Fatty acid metabolism |
MSigDB gene sets: 77 (showing top):
GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, KEGG_BIOSYNTHESIS_OF_UNSATURATED_FATTY_ACIDS, LA_MEN1_TARGETS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, chr14q24, GOBP_AMIDE_METABOLIC_PROCESS, FUJIWARA_PARK2_HEPATOCYTE_PROLIFERATION_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP, GOBP_VERY_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS
GO Biological Process (6): very long-chain fatty acid metabolic process (GO:0000038), long-chain fatty acid metabolic process (GO:0001676), fatty acid metabolic process (GO:0006631), acyl-CoA metabolic process (GO:0006637), lipid metabolic process (GO:0006629), monocarboxylic acid metabolic process (GO:0032787)
GO Molecular Function (5): fatty acyl-CoA hydrolase activity (GO:0047617), carboxylic ester hydrolase activity (GO:0052689), protein binding (GO:0005515), hydrolase activity (GO:0016787), thiolester hydrolase activity (GO:0016790)
GO Cellular Component (3): mitochondrion (GO:0005739), cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Fatty acid metabolism | 1 |
| Metabolism | 1 |
| Metabolism of lipids | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| fatty acid metabolic process | 2 |
| hydrolase activity, acting on ester bonds | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| nucleoside phosphate metabolic process | 1 |
| sulfur compound metabolic process | 1 |
| purine-containing compound metabolic process | 1 |
| primary metabolic process | 1 |
| carboxylic acid metabolic process | 1 |
| acyl-CoA hydrolase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
938 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACOT1 | ACOT8 | O14734 | 951 |
| ACOT1 | PPARA | Q07869 | 796 |
| ACOT1 | ACOT7 | O00154 | 775 |
| ACOT1 | EHHADH | Q08426 | 596 |
| ACOT1 | HEATR4 | Q86WZ0 | 588 |
| ACOT1 | ACOT13 | Q9NPJ3 | 567 |
| ACOT1 | ACOX1 | Q15067 | 538 |
| ACOT1 | RBM8A | Q9Y5S9 | 521 |
| ACOT1 | ACOT11 | Q8WXI4 | 476 |
| ACOT1 | FABP5 | Q01469 | 475 |
| ACOT1 | ACOT9 | Q9Y305 | 465 |
| ACOT1 | PDK4 | Q16654 | 455 |
| ACOT1 | CD4 | P01730 | 448 |
| ACOT1 | CPT2 | P23786 | 446 |
| ACOT1 | HMGCS2 | P54868 | 440 |
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SLC35A5 | TNKS | psi-mi:“MI:0914”(association) | 0.640 |
| TFAP2A | ACOT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PCNA | POM121C | psi-mi:“MI:0914”(association) | 0.550 |
| ACOT2 | ACOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNA10 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| AIFM1 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.420 |
| HHATL | ACOT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PATZ1 | ACOT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Chmp4b | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| ZFP69B | CNP | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS11E | RAB4A | psi-mi:“MI:0914”(association) | 0.350 |
| TFAP2A | TFAP2D | psi-mi:“MI:0914”(association) | 0.350 |
| CNP | UBB | psi-mi:“MI:0914”(association) | 0.350 |
| SPG7 | TUBA4A | psi-mi:“MI:0914”(association) | 0.350 |
| FECH | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| AIFM1 | NUDT19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| AURKAIP1 | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 | |
| HSPD1 | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| COX14 | NUDT19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| COX4I1 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| MGST3 | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PDK1 | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SCO1 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SFXN1 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TRMT61B | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| IMMP2L | MRPL45 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (142): ACOT1 (Affinity Capture-MS), ACOT1 (Affinity Capture-MS), ACOT1 (Affinity Capture-MS), ACOT1 (Affinity Capture-MS), ACOT1 (Affinity Capture-MS), ACOT1 (Affinity Capture-MS), ACOT1 (Proximity Label-MS), ACOT1 (Proximity Label-MS), ACOT1 (Proximity Label-MS), ACOT1 (Proximity Label-MS), ACOT1 (Proximity Label-MS), ACOT1 (Proximity Label-MS), ACOT1 (Proximity Label-MS), ACOT1 (Proximity Label-MS), ACOT1 (Proximity Label-MS)
ESM2 similar proteins: A0A1D5PJB7, A1A4Q9, A5YM72, A6NLP5, D3KCC4, I3L5V6, O43292, P10938, Q00973, Q05B52, Q09200, Q10468, Q14623, Q148G5, Q16586, Q2V8X7, Q3SZV0, Q561R2, Q5E9M9, Q5M868, Q5ZL13, Q66H45, Q69ZF3, Q6P3D0, Q6P7A1, Q6P9Z4, Q6SZW1, Q6TEC1, Q6ZPS2, Q7TMC8, Q864R5, Q86TX2, Q8IXI1, Q8N0W3, Q8N3Y3, Q8N6R0, Q8NF37, Q8NI29, Q8TCD5, Q8VBW8
Diamond homologs: A2AKK5, O55137, O55171, O88267, P49753, Q14032, Q32Q92, Q3I5F7, Q5FVR5, Q63276, Q6Q2Z6, Q86TX2, Q8BGG9, Q8BWN8, Q8N9L9, Q91X34, Q9QYR7, Q9QYR9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 47 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 protein degradation | 6 | 21.4× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
234 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 184 |
| Likely benign | 24 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 375394 | NM_001037161.2(ACOT1):c.410_423del (p.Glu137fs) | Pathogenic |
SpliceAI
939 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:73539729:G:GT | donor_gain | 1.0000 |
| 14:73541230:T:A | acceptor_gain | 1.0000 |
| 14:73541479:T:TA | acceptor_gain | 1.0000 |
| 14:73541489:CAAG:C | acceptor_loss | 1.0000 |
| 14:73541490:A:AG | acceptor_gain | 1.0000 |
| 14:73541491:A:G | acceptor_gain | 1.0000 |
| 14:73541491:A:T | acceptor_loss | 1.0000 |
| 14:73541492:G:A | acceptor_loss | 1.0000 |
| 14:73541492:G:GC | acceptor_gain | 1.0000 |
| 14:73541492:GA:G | acceptor_gain | 1.0000 |
| 14:73541492:GAA:G | acceptor_gain | 1.0000 |
| 14:73541492:GAAC:G | acceptor_gain | 1.0000 |
| 14:73541492:GAACC:G | acceptor_gain | 1.0000 |
| 14:73541691:CTGAG:C | donor_gain | 1.0000 |
| 14:73541692:TGAG:T | donor_gain | 1.0000 |
| 14:73541693:GAG:G | donor_gain | 1.0000 |
| 14:73541693:GAGG:G | donor_gain | 1.0000 |
| 14:73541694:AG:A | donor_gain | 1.0000 |
| 14:73541694:AGGT:A | donor_loss | 1.0000 |
| 14:73541695:GG:G | donor_gain | 1.0000 |
| 14:73541696:G:GA | donor_loss | 1.0000 |
| 14:73541696:G:GG | donor_gain | 1.0000 |
| 14:73539718:G:GT | donor_gain | 0.9900 |
| 14:73539817:GGG:G | donor_gain | 0.9900 |
| 14:73539818:GGG:G | donor_gain | 0.9900 |
| 14:73541494:A:AG | acceptor_gain | 0.9900 |
| 14:73541494:ACCT:A | acceptor_gain | 0.9900 |
| 14:73541494:ACCTG:A | acceptor_gain | 0.9900 |
| 14:73541495:C:G | acceptor_gain | 0.9900 |
| 14:73543045:CTCA:C | acceptor_loss | 0.9900 |
AlphaMissense
2700 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:73543366:A:C | D326A | 0.983 |
| 14:73543380:A:C | S331R | 0.983 |
| 14:73543382:T:A | S331R | 0.983 |
| 14:73543382:T:G | S331R | 0.983 |
| 14:73537557:T:C | F46L | 0.982 |
| 14:73537559:C:A | F46L | 0.982 |
| 14:73537559:C:G | F46L | 0.982 |
| 14:73543365:G:C | D326H | 0.982 |
| 14:73543469:C:A | H360Q | 0.982 |
| 14:73543469:C:G | H360Q | 0.982 |
| 14:73543584:T:A | W399R | 0.982 |
| 14:73543584:T:C | W399R | 0.982 |
| 14:73543366:A:T | D326V | 0.981 |
| 14:73537635:T:C | F72L | 0.980 |
| 14:73537637:C:A | F72L | 0.980 |
| 14:73537637:C:G | F72L | 0.980 |
| 14:73543467:C:G | H360D | 0.980 |
| 14:73541561:A:C | S176R | 0.979 |
| 14:73541563:T:A | S176R | 0.979 |
| 14:73541563:T:G | S176R | 0.979 |
| 14:73543367:C:A | D326E | 0.977 |
| 14:73543367:C:G | D326E | 0.977 |
| 14:73537575:T:G | Y52D | 0.976 |
| 14:73543154:C:A | N255K | 0.974 |
| 14:73543154:C:G | N255K | 0.974 |
| 14:73543586:G:C | W399C | 0.973 |
| 14:73543586:G:T | W399C | 0.973 |
| 14:73543374:T:A | W329R | 0.972 |
| 14:73543374:T:C | W329R | 0.972 |
| 14:73537706:G:C | K95N | 0.970 |
dbSNP variants (sampled 300 via entrez): RS1000028636 (14:73517976 C>T), RS1000042399 (14:73496632 T>C), RS1000135040 (14:73524860 A>G), RS1000190326 (14:73543268 G>A), RS1000326850 (14:73497772 A>G), RS1000343396 (14:73502024 A>C,G), RS1000390861 (14:73510014 C>T), RS1000414511 (14:73491297 C>A,G), RS1000468253 (14:73491491 C>G,T), RS1000524285 (14:73530368 T>C), RS1000552373 (14:73529764 C>T), RS1000764213 (14:73490900 C>A,G,T), RS1000801752 (14:73493195 C>T), RS1000947156 (14:73497511 C>T), RS1001148371 (14:73516853 G>T)
Disease associations
OMIM: gene MIM:614313 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2189136 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs758109 | ACOT1, HEATR4, RIOX1 | 0.00 | 0 |
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, increases methylation, decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| bisphenol F | increases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| chlortoluron | decreases expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| nivalenol | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| GW 4064 | decreases expression, affects cotreatment | 1 |
| GW 7647 | increases expression | 1 |
| 6-(4-chlorophenyl)imidazo(2,1-b)(1,3)thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| bisphenol B | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Catechin | affects cotreatment, 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 |
|---|---|---|---|
| CHEMBL2209148 | Binding | Inhibition of ACOT1 binding to FP-biotin in [12C][14N]-lysine, arginine and [13C6][15N2]-lysine, arginine labeled HEK293T cells at 20 uM after 1 hr by isotopic activity-based protein profiling-MudPIT assay | Discovery and optimization of sulfonyl acrylonitriles as selective, covalent inhibitors of protein phosphatase methylesterase-1. — J Med Chem |
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.