ACOT13

Summary

ACOT13 (acyl-CoA thioesterase 13, HGNC:20999) is a protein-coding gene on chromosome 6p22.3, encoding Acyl-coenzyme A thioesterase 13 (Q9NPJ3). Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels.

This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 55856 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 34 total — 1 pathogenic, 1 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_018473

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20999
Approved symbol	ACOT13
Name	acyl-CoA thioesterase 13
Location	6p22.3
Locus type	gene with protein product
Status	Approved
Aliases	HT012
Ensembl gene	ENSG00000112304
Ensembl biotype	protein_coding
OMIM	615652
Entrez	55856

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000230048, ENST00000476436, ENST00000537591, ENST00000858847, ENST00000858848, ENST00000917904

RefSeq mRNA: 2 — MANE Select: NM_018473 NM_001160094, NM_018473

CCDS: CCDS4558, CCDS54972

Canonical transcript exons

ENST00000230048 — 3 exons

Exon	Start	End
ENSE00001174688	24667077	24667344
ENSE00003657839	24697883	24698067
ENSE00003680711	24701459	24705046

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 95.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.9817 / max 445.6942, expressed in 1822 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66400	36.0269	1820
66402	9.9976	1658
66399	1.1940	667
66401	0.7632	460

Top tissues by expression

298 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	95.46	gold quality
left ventricle myocardium	UBERON:0006566	95.37	gold quality
apex of heart	UBERON:0002098	95.34	gold quality
liver	UBERON:0002107	94.64	gold quality
triceps brachii	UBERON:0001509	94.12	gold quality
calcaneal tendon	UBERON:0003701	94.08	gold quality
myocardium	UBERON:0002349	94.05	gold quality
heart left ventricle	UBERON:0002084	93.80	gold quality
cardiac ventricle	UBERON:0002082	93.76	gold quality
tendon	UBERON:0000043	93.63	gold quality
right atrium auricular region	UBERON:0006631	93.62	gold quality
cardiac atrium	UBERON:0002081	93.56	gold quality
heart right ventricle	UBERON:0002080	93.53	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.32	gold quality
left testis	UBERON:0004533	93.29	gold quality
right testis	UBERON:0004534	93.02	gold quality
diaphragm	UBERON:0001103	93.00	gold quality
biceps brachii	UBERON:0001507	92.95	gold quality
medial globus pallidus	UBERON:0002477	92.77	gold quality
tendon of biceps brachii	UBERON:0008188	92.55	gold quality
vastus lateralis	UBERON:0001379	92.45	gold quality
heart	UBERON:0000948	92.44	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.33	gold quality
quadriceps femoris	UBERON:0001377	92.06	gold quality
muscle of leg	UBERON:0001383	91.91	gold quality
testis	UBERON:0000473	91.88	gold quality
gastrocnemius	UBERON:0001388	91.88	gold quality
muscle organ	UBERON:0001630	91.88	gold quality
skeletal muscle organ	UBERON:0014892	91.88	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.77	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-110499	no	307.40
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA4, HNF4A, MBD2, PPARA

miRNA regulators (miRDB)

110 targeting ACOT13, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-6733-5P	99.74	67.94	2759

Literature-anchored findings (GeneRIF, showing 10)

• analysis of human thioesterase superfamily member 2 crystal structure (PMID:16934754)
• Small interference RNA silencing in cell line HCT116 shows that the hthem2 gene is essential for the cell sustained proliferation. (PMID:17045243)
• Yeast two-hybrid screening using libraries prepared from mouse liver and embryo identified Them2 (thioesterase superfamily member 2) and the homeodomain transcription factor Pax3 (paired box gene 3), respectively, as PC-TP-interacting proteins. (PMID:17704541)
• The physiological role of hTHEM2 involves catalysis of the hydrolysis of cytosolic medium-to-long-chain acyl-CoA thioesters. (PMID:19170545)
• The results of this study confirmed that both FOXP2 and KIAA0319/TTRAP/THEM2 genes play an important role in human language development, but probably through different cerebral pathways. (PMID:22262880)
• study failed to show any association of THEM2 SNPs with developmental dyslexia in an Indian population. (PMID:23954868)
• This study models the reaction of the hTHEM2 enzyme by first-principles methods to elucidate atomic and electronic details of the mechanism, its transition-state (TS) conformation, and the free-energy landscape of the process. (PMID:24894958)
• Markers in DYX2 genes KIAA0319 and FAM65B were associated with cortical thickness in the left developing orbitofrontal region and global fractional anisotropy, respectively. KIAA0319 and ACOT13 were suggestively associated with overall fractional anisotropy and left pars opercularis cortical thickness, respectively. (PMID:25953057)
• Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing. (PMID:34886911)
• Acyl-CoA thioesterase 13 (ACOT13) attenuates the progression of autosomal dominant polycystic kidney disease in vitro via triggering mitochondrial-related cell apoptosis. (PMID:39172111)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	acot13	ENSDARG00000061728
mus_musculus	Acot13	ENSMUSG00000006717
rattus_norvegicus	Acot13	ENSRNOG00000018415
drosophila_melanogaster	CG16985	FBGN0035355
drosophila_melanogaster	CG16986	FBGN0035356

Protein

Protein identifiers

Acyl-coenzyme A thioesterase 13 — Q9NPJ3 (reviewed: Q9NPJ3)

Alternative names: Hotdog-fold thioesterase superfamily member 2, Palmitoyl-CoA hydrolase, Thioesterase superfamily member 2

All UniProt accessions (1): Q9NPJ3

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. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3-hydroxyphenylacetyl-CoA and 3,4-dihydroxyphenylacetyl-CoA (in vitro). May play a role in controlling adaptive thermogenesis.

Subunit / interactions. Homotetramer. Interacts with PCTP.

Subcellular location. Cytoplasm. Cytosol. Mitochondrion. Nucleus. Cytoskeleton. Spindle.

Similarity. Belongs to the thioesterase PaaI family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NPJ3-1	1	yes
Q9NPJ3-2	2

RefSeq proteins (2): NP_001153566, NP_060943* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003736	PAAI_dom	Domain
IPR006683	Thioestr_dom	Domain
IPR029069	HotDog_dom_sf	Homologous_superfamily
IPR039298	ACOT13	Family

Pfam: PF03061

Enzyme classification (BRENDA):

• EC 3.1.2.20 — acyl-CoA hydrolase (BRENDA: 47 organisms, 273 substrates, 173 inhibitors, 271 Km, 184 kcat entries)

Substrate kinetics (BRENDA)

77 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
HEXADECANOYL-COA	—	25
PALMITOYL-COA	0.0024–33	14
MYRISTOYL-COA	0.0025–0.0228	13
3-HYDROXYPHENYLACETYL-COA	0.0037–0.9	11
OLEOYL-COA	0.0014–0.0274	10
ARACHIDONOYL-COA	0.0004–0.02	9
DODECANOYL-COA	0.0018–0.325	9
LAUROYL-COA	0.0035–0.0275	9
PALMITOLEOYL-COA	0.0014–0.058	9
2,3-DIHYDROXYBENZOYL-COA	0.0375–1.42	7
ACETYL-COA	0.0047–0.29	7
SALICYLYL-COA	0.162–0.729	7
DECANOYL-COA	0.0027–19.78	6
LINOLEOYL-COA	0.0014–0.31	6
STEAROYL-COA	0.0015–0.0279	6

Catalyzed reactions (Rhea), 10 shown:

• hexadecanoyl-CoA + H2O = hexadecanoate + CoA + H(+) (RHEA:16645)
• a fatty acyl-CoA + H2O = a fatty acid + CoA + H(+) (RHEA:16781)
• dodecanoyl-CoA + H2O = dodecanoate + CoA + H(+) (RHEA:30135)
• octanoyl-CoA + H2O = octanoate + CoA + H(+) (RHEA:30143)
• decanoyl-CoA + H2O = decanoate + CoA + H(+) (RHEA:40059)
• butanoyl-CoA + H2O = butanoate + CoA + H(+) (RHEA:40111)
• hexanoyl-CoA + H2O = hexanoate + CoA + H(+) (RHEA:40115)
• tetradecanoyl-CoA + H2O = tetradecanoate + CoA + H(+) (RHEA:40119)
• (9Z)-octadecenoyl-CoA + H2O = (9Z)-octadecenoate + CoA + H(+) (RHEA:40139)
• (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + CoA + H(+) (RHEA:40151)

UniProt features (37 total): strand 9, modified residue 7, binding site 7, mutagenesis site 5, helix 4, chain 2, initiator methionine 1, splice variant 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3F5O	X-RAY DIFFRACTION	1.7
2H4U	X-RAY DIFFRACTION	2.2
2F0X	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NPJ3-F1	96.28	0.94

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (7): 46; 50; 81; 83; 90–95; 108–113; 137

Post-translational modifications (7): 1, 2, 27, 37, 43, 108, 127

Mutagenesis-validated functional residues (5):

Position	Phenotype
50	reduced acyl-coa hydrolase activity.
56	decreases affinity for substrate.
65	loss of acyl-coa hydrolase activity.
65	reduced acyl-coa hydrolase activity.
83	reduced acyl-coa hydrolase activity.

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: 192 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TGCGCANK_UNKNOWN, GOBP_PROTEIN_HOMOTETRAMERIZATION, KAAB_FAILED_HEART_ATRIUM_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, LUCAS_HNF4A_TARGETS_UP, MODULE_331, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, SANSOM_APC_TARGETS_DN, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, REACTOME_MITOCHONDRIAL_FATTY_ACID_BETA_OXIDATION, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN

GO Biological Process (3): lipid metabolic process (GO:0006629), protein homotetramerization (GO:0051289), negative regulation of cold-induced thermogenesis (GO:0120163)

GO Molecular Function (4): metal ion binding (GO:0046872), fatty acyl-CoA hydrolase activity (GO:0047617), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (7): nucleus (GO:0005634), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), spindle (GO:0005819), cytosol (GO:0005829), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

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
intracellular membrane-bounded organelle	2
cytoplasm	2
intracellular membraneless organelle	2
cellular anatomical structure	2
primary metabolic process	1
protein homooligomerization	1
protein tetramerization	1
negative regulation of multicellular organismal process	1
cold-induced thermogenesis	1
regulation of cold-induced thermogenesis	1
cation binding	1
acyl-CoA hydrolase activity	1
binding	1
catalytic activity	1
mitochondrion	1
intracellular organelle lumen	1
microtubule cytoskeleton	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1908 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACOT13	KIAA0319	Q5VV43	945
ACOT13	PCTP	Q9UKL6	940
ACOT13	TDP2	O95551	933
ACOT13	DCDC2	Q9UHG0	921
ACOT13	ACOT11	Q8WXI4	722
ACOT13	ACOT8	O14734	710
ACOT13	DNAAF4	Q8WXU2	695
ACOT13	ACOT9	Q9Y305	671
ACOT13	ACOT7	O00154	654
ACOT13	ACOT2	P49753	630
ACOT13	ACOT4	Q8N9L9	595
ACOT13	ACOT12	Q8WYK0	570
ACOT13	ACOT1	Q86TX2	567
ACOT13	ACOT6	Q3I5F7	565
ACOT13	GLO1	P78375	563

IntAct

33 interactions, top by confidence:

A	B	Type	Score
NDUFS3	NDUFS8	psi-mi:“MI:0914”(association)	0.730
NTAQ1	ACOT13	psi-mi:“MI:0915”(physical association)	0.560
ACOT13	SPG21	psi-mi:“MI:0915”(physical association)	0.560
MYDGF	ACOT13	psi-mi:“MI:0915”(physical association)	0.560
ACOT13	YWHAG	psi-mi:“MI:0915”(physical association)	0.560
ACOT13	SETDB1	psi-mi:“MI:0915”(physical association)	0.560
ACOT13	KAT5	psi-mi:“MI:0915”(physical association)	0.560
LMO3	ACOT13	psi-mi:“MI:0915”(physical association)	0.560
NDUFA4	NUDT19	psi-mi:“MI:0914”(association)	0.350
NDUFS3	ACOT7	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NDUFS8	psi-mi:“MI:0914”(association)	0.350
ACOT13	DBT	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
FN1	ESYT2	psi-mi:“MI:0914”(association)	0.350
MCC	ACOT13	psi-mi:“MI:0915”(physical association)	0.000
IKBKE	ACOT13	psi-mi:“MI:0915”(physical association)	0.000
ACOT13	RBBP6	psi-mi:“MI:0915”(physical association)	0.000
NTAQ1	ACOT13	psi-mi:“MI:0915”(physical association)	0.000
SPG21	ACOT13	psi-mi:“MI:0915”(physical association)	0.000
MYDGF	ACOT13	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (62): ACOT13 (Co-fractionation), ACOT13 (Co-fractionation), ACOT13 (Co-fractionation), ATIC (Co-fractionation), CMPK1 (Co-fractionation), LMAN2L (Co-fractionation), NHP2L1 (Co-fractionation), PPP2R4 (Co-fractionation), TNN (Co-fractionation), TRNT1 (Co-fractionation), UBE2N (Co-fractionation), ACOT13 (Affinity Capture-MS), ACOT13 (Affinity Capture-RNA), ACOT13 (Affinity Capture-MS), ACOT13 (Co-fractionation)

ESM2 similar proteins: B5FXE5, O97764, P00333, P04707, P05336, P06525, P09417, P10848, P11348, P11415, P12886, P13603, P14219, P14673, P14674, P14675, P17648, P20132, P25141, P28032, P44886, P47199, P48977, P87304, Q08257, Q0ITW7, Q0JL73, Q0MVN8, Q0VCW4, Q28452, Q2R8Z5, Q3SWX2, Q3T0Z7, Q3UFF7, Q3ZCH9, Q4R1E8, Q5R4S7, Q5R833, Q640V9, Q6AYT0

Diamond homologs: P34419, Q5R833, Q9CQR4, Q9I644, Q9NPJ3, P87304

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

34 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	27
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
144466	GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1	Pathogenic
2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	Likely pathogenic

SpliceAI

597 predictions. Top by Δscore:

Variant	Effect	Δscore
6:24667291:G:GT	donor_gain	1.0000
6:24667291:G:T	donor_gain	1.0000
6:24697882:GATT:G	acceptor_gain	1.0000
6:24698063:ATAAC:A	donor_gain	1.0000
6:24698066:AC:A	donor_gain	1.0000
6:24698068:G:GG	donor_gain	1.0000
6:24701587:G:GT	donor_gain	1.0000
6:24667330:A:T	donor_gain	0.9900
6:24697877:A:AG	acceptor_gain	0.9900
6:24697878:C:G	acceptor_gain	0.9900
6:24697878:CTTA:C	acceptor_loss	0.9900
6:24697879:TTA:T	acceptor_loss	0.9900
6:24697880:TAG:T	acceptor_loss	0.9900
6:24697881:A:AG	acceptor_gain	0.9900
6:24697882:G:GA	acceptor_gain	0.9900
6:24697882:GATTA:G	acceptor_gain	0.9900
6:24697900:T:A	acceptor_gain	0.9900
6:24698033:G:T	donor_gain	0.9900
6:24698064:TAAC:T	donor_gain	0.9900
6:24698065:AAC:A	donor_gain	0.9900
6:24698069:T:G	donor_loss	0.9900
6:24666925:AGGCG:A	donor_gain	0.9800
6:24667316:C:T	donor_gain	0.9800
6:24697875:A:AG	acceptor_gain	0.9800
6:24697876:C:G	acceptor_gain	0.9800
6:24697882:GAT:G	acceptor_gain	0.9800
6:24697906:T:TA	acceptor_gain	0.9800
6:24697907:G:A	acceptor_gain	0.9800
6:24697982:GCCAC:G	donor_gain	0.9800
6:24698044:A:AG	donor_gain	0.9800

AlphaMissense

902 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:24698048:A:C	S83R	0.997
6:24698050:T:A	S83R	0.997
6:24698050:T:G	S83R	0.997
6:24697995:A:T	D65V	0.995
6:24701535:T:C	F115L	0.995
6:24701537:T:A	F115L	0.995
6:24701537:T:G	F115L	0.995
6:24701551:T:C	L120P	0.995
6:24697983:C:A	A61D	0.992
6:24697995:A:C	D65A	0.992
6:24701600:A:C	K136N	0.992
6:24701600:A:T	K136N	0.992
6:24697996:T:A	D65E	0.991
6:24697996:T:G	D65E	0.991
6:24701503:C:A	A104E	0.991
6:24701581:C:A	A130E	0.991
6:24701587:G:A	G132E	0.991
6:24701502:G:C	A104P	0.990
6:24701580:G:C	A130P	0.990
6:24701586:G:A	G132R	0.990
6:24701586:G:C	G132R	0.990
6:24698064:T:A	I88K	0.989
6:24701532:G:C	A114P	0.989
6:24697965:T:A	L55H	0.988
6:24697982:G:C	A61P	0.988
6:24697994:G:C	D65H	0.988
6:24698052:T:A	V84D	0.988
6:24698001:T:A	I67K	0.987
6:24701545:T:A	V118E	0.986
6:24698064:T:G	I88R	0.985

dbSNP variants (sampled 300 via entrez): RS1000016540 (6:24704175 A>C), RS1000033273 (6:24698737 A>C), RS1000050830 (6:24697641 G>A), RS1000145428 (6:24667097 C>G,T), RS1000232698 (6:24690672 A>C,T), RS1000582827 (6:24679153 G>A,C), RS1000635254 (6:24678707 C>T), RS1000658662 (6:24667826 C>T), RS1000749033 (6:24668243 G>A), RS1000872724 (6:24701719 C>T), RS1000933506 (6:24668455 A>C,G,T), RS1000939543 (6:24668014 C>G), RS1001217209 (6:24672985 C>A,T), RS1001237252 (6:24688891 A>G), RS1001265783 (6:24665963 T>A,C)

Disease associations

OMIM: gene MIM:615652 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005175_46	Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295957 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

46 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
Cisplatin	affects expression, affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Valproic Acid	affects expression, decreases methylation	2
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	decreases expression	1
salinomycin	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	increases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chloropicrin	increases expression	1
monomethylarsonous acid	increases expression	1
ICG 001	increases expression	1
jinfukang	affects cotreatment, increases expression	1
MT19c compound	increases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Atrazine	increases expression	1
Carbamazepine	affects expression	1
Doxorubicin	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
CHEMBL4118573	Binding	Binding affinity to ACOT13 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D2HS	Abcam Raji ACOT13 KO	Cancer cell line	Male
CVCL_UQ03	Abcam Jurkat ACOT13 KO	Cancer cell line	Male
CVCL_WQ87	Abcam K-562 ACOT13 KO	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.