CPT1A

Summary

CPT1A (carnitine palmitoyltransferase 1A, HGNC:2328) is a protein-coding gene on chromosome 11q13.3, encoding Carnitine O-palmitoyltransferase 1, liver isoform (P50416). Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion.

The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 1374 — RefSeq curated summary.

At a glance

• Gene–disease (curated): carnitine palmitoyl transferase 1A deficiency (Definitive, ClinGen)
• GWAS associations: 17
• Clinical variants (ClinVar): 1,204 total — 73 pathogenic, 101 likely-pathogenic
• Phenotypes (HPO): 40
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001876

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2328
Approved symbol	CPT1A
Name	carnitine palmitoyltransferase 1A
Location	11q13.3
Locus type	gene with protein product
Status	Approved
Aliases	CPT1-L, L-CPT1
Ensembl gene	ENSG00000110090
Ensembl biotype	protein_coding
OMIM	600528
Entrez	1374

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 12 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000265641, ENST00000376618, ENST00000537756, ENST00000538994, ENST00000539743, ENST00000540367, ENST00000561996, ENST00000565318, ENST00000569129, ENST00000867661, ENST00000867662, ENST00000966631, ENST00000966632

RefSeq mRNA: 2 — MANE Select: NM_001876 NM_001031847, NM_001876

CCDS: CCDS31624, CCDS8185

Canonical transcript exons

ENST00000265641 — 19 exons

Exon	Start	End
ENSE00000737375	68780640	68780745
ENSE00000737377	68784815	68785010
ENSE00000737383	68799218	68799355
ENSE00000737385	68804000	68804101
ENSE00000992059	68775316	68775432
ENSE00001117290	68760225	68760338
ENSE00001117292	68807467	68807638
ENSE00001117294	68812437	68812576
ENSE00001117295	68759569	68759661
ENSE00001117296	68761535	68761687
ENSE00001200511	68781771	68781959
ENSE00001200549	68815334	68815487
ENSE00001316221	68754883	68757730
ENSE00002258735	68841775	68841916
ENSE00002453815	68793315	68793402
ENSE00002467924	68794804	68794911
ENSE00003638198	68762627	68762761
ENSE00003654866	68773265	68773429
ENSE00003669189	68796856	68796933

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 97.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.3375 / max 367.7625, expressed in 1722 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
121015	8.7383	1647
121017	6.4613	1586
121018	0.4789	247
121016	0.3743	143
121019	0.1388	57
121008	0.1358	36
121009	0.0050	2
121010	0.0050	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	97.81	gold quality
ileal mucosa	UBERON:0000331	97.61	gold quality
renal medulla	UBERON:0000362	96.56	gold quality
colonic mucosa	UBERON:0000317	96.19	gold quality
duodenum	UBERON:0002114	96.14	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.70	gold quality
olfactory bulb	UBERON:0002264	95.07	gold quality
type B pancreatic cell	CL:0000169	94.27	silver quality
mucosa of transverse colon	UBERON:0004991	94.20	gold quality
rectum	UBERON:0001052	94.17	gold quality
trabecular bone tissue	UBERON:0002483	94.00	gold quality
transverse colon	UBERON:0001157	92.99	gold quality
smooth muscle tissue	UBERON:0001135	92.98	gold quality
jejunum	UBERON:0002115	92.96	gold quality
cervix squamous epithelium	UBERON:0006922	92.91	silver quality
large intestine	UBERON:0000059	92.69	gold quality
colon	UBERON:0001155	92.59	gold quality
mucosa of stomach	UBERON:0001199	92.37	gold quality
tongue squamous epithelium	UBERON:0006919	92.22	silver quality
monocyte	CL:0000576	92.15	gold quality
trigeminal ganglion	UBERON:0001675	92.11	gold quality
heart right ventricle	UBERON:0002080	92.05	gold quality
dorsal root ganglion	UBERON:0000044	91.99	gold quality
intestine	UBERON:0000160	91.99	gold quality
seminal vesicle	UBERON:0000998	91.98	gold quality
stromal cell of endometrium	CL:0002255	91.88	gold quality
liver	UBERON:0002107	91.82	gold quality
cardia of stomach	UBERON:0001162	91.76	gold quality
upper arm skin	UBERON:0004263	91.63	silver quality
pericardium	UBERON:0002407	91.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.34

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, CREB1, FOXA2, FOXO1, HNF4A, MEF2A, MEF2C, NCOR1, NR1I2, NR4A1, PAX3, PPARA, PPARD

miRNA regulators (miRDB)

137 targeting CPT1A, 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-4533	100.00	69.48	2758
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-579-3P	99.86	71.66	3628

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Human CPT1A, CPT1B, CPT2, CROT and CRAT are known to encode active carnitine acyltransferases. Earlier pfam annotations refer to the non-existing compound CARNITATE. In 2000 this has been changed to CARNITINE. (PMID:11001805)
• Mutations 1079A>G and 2028+2delAAGT result in an autosomal recessive mitochondrial fatty acid oxidation disorder. (PMID:12111367)
• hyperglycemia with hyperinsulinemia increases malonyl-CoA, inhibits functional CPT-1 activity, and shunts long-chain fatty acids away from oxidation and toward storage in human muscle (PMID:12464674)
• disease-causing CPT1A mutations can be divided into two categories depending on whether they affect directly or indirectly the active site of the enzyme (PMID:14517221)
• tBid decreases CPT-1 activity by a mechanism independent of both malonyl-CoA, the key inhibitory molecule of CPT-1, and Bak and/or Bax, but dependent on cardiolipin decrease (PMID:15846373)
• This inducible expression system should be well suited to study the roles of CPT1 and fatty acid oxidation in lipotoxicity and metabolism in vivo. (PMID:16246309)
• a conserved functional PPAR responsive element downstream of the transcriptional start site of the human CPT1A gene is localized; this sequence is fundamental for fatty acids or PGC1-induced transcriptional activation of the CPT1A gene (PMID:16271724)
• Patient with chronic hepatitis C, carrying the CPT1A minor allele are at the decreased risk of developing advanced liver fibrosis. (PMID:16697732)
• neither haplotypes nor SNPs of CPT1A were found to be associated either with susceptibility to type 2 diabetes mellitus or with hepatic lipid content or insulin resistance in type 2 diabetic patients (PMID:17445541)
• structural analysis of two malonyl-CoA sites in carnitine palmitoyltransferase 1A (PMID:17452323)
• The peculiar localization of CPT1 in the nuclei of human carcinomas and the disclosed functional link between nuclear CPT1 and HDAC1 propose a new role of CPT1 in the histonic acetylation level of tumors. (PMID:18253084)
• Accumulation of 3-hydroxylated intermediates of long-chain fatty acids may contribute to the pathogenesis of retinopathy in MTP deficiencies. (PMID:18385088)
• CPT1A p.P479L was associated with elevated plasma HDL and apoA-I levels. The association with increased levels of HDL and apoA-I suggest that the polymorphism might protect against atherosclerosis. (PMID:19181627)
• There is an astonishingly high frequency of CPT1 P479L variant and, judging from the enzyme analysis in the seven patients, also CPT-I deficiency in the areas of Canada inhabited by these families. (PMID:19217814)
• miR-370 acting via miR-122 may have a causative role in the accumulation of hepatic triglycerides by modulating initially the expression of SREBP-1c, DGAT2, and Cpt1alpha. (PMID:20124555)
• PPARalpha and PGC-1alpha stimulate transcription of the CPT-1A gene through different regions of CPT-1A gene. (PMID:20638986)
• Data show PEPCK-C and CPT-1 mRNAs are more abundant in non-tumoral tissues than in the tumoral counterpart, whereas the opposite occurred for the FAS gene. (PMID:20691246)
• allele frequency and rate of homozygosity for the CPT1A P479L variant were high in Inuit and Inuvialuit who reside in northern coastal regions of Canada. (PMID:20696606)
• The CPT1A c.1436C–>T variant is prevalent among some Alaska Native peoples, but newborn screening using current MS/MS cutoffs is not an effective means to identify homozygous infants (PMID:20843525)
• Our data provide preliminary evidence that a highly prevalent CPT1A variant found among Alaska Native and other indigenous circumpolar populations may help explain historically high infant mortality rates. (PMID:20937660)
• These studies identified a favourable role for CPT1A in adipocytes to attenuate fatty acid-evoked insulin resistance and inflammation via suppression of JNK. (PMID:21348853)
• significant correlation between strong expression of CPT1A protein and poor outcome of ESCC patients (PMID:21484929)
• Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant. (PMID:21763168)
• carrier frequency of the c.1364A>C mutation of cpt1a in Finland is far lower than that of the variants found in Alaskan, Canadian, and Greenland native populations. (PMID:21962599)
• an environment-dependent structural switch underlies the regulation of carnitine palmitoyltransferase 1A (PMID:21990363)
• Our findings are consistent with the hypothesis that the L479 allele of the CPT1A P479L variant confers a selective advantage that is both cardioprotective (through increased HDL-cholesterol) and associated with reduced adiposity (PMID:22045927)
• Data suggest that CPT1A, leptin receptor (LEPR), and insulin receptor (INSR) mRNA levels are higher in blood cells/blood from overweight children compared with normal weight children; INSR and CPT1A are increased only in males. (PMID:22278432)
• we have identified CPT1A as a novel transcriptional target of PAX3-FKHR and revealed the novel function of CPT1A in promoting cell motility. (PMID:22533991)
• Exposure to all-trans RA (ATRA) up-regulated the expression of carnitine palmitoyl transferase-1 (CPT1-L) in HepG2 cells in a dose- and time-dependent manner. (PMID:22871568)
• The CPT1A p.P479L variant is common to some coastal BC First Nations, and homozygosity for this variant is associated with unexpected death in infancy (PMID:23090344)
• The association of the arctic variant of CPT1A with infectious disease outcomes in children between birth and 2.5 years of age suggests that this variant may play a role in the historically high incidence (PMID:23992672)
• the structure of the regulatory domain of CPT1C was determined (residues Met1-Phe50) by NMR spectroscopy. (PMID:24037959)
• The results suggest the generality of carnitine palmitoyltransferase-1 inhibition under various stress conditions associated with ROS generation, providing an insight into a mechanism for oxidative dysfunction in mitochondrial metabolism. (PMID:24118240)
• High grade glioblastoma is associated with increased level of ZFP57, a protein involved in gene imprinting, and aberrant expression of CPT1A and CPT1C. (PMID:24618825)
• associations between methylation in CPT1A and lipoprotein measures highlight the epigenetic role of this gene in metabolic dysfunction. (PMID:24711635)
• CPT1A methylation was strongly associated with fasting very-low low-density lipoprotein cholesterol and trigylcerides. (PMID:24920721)
• CPT1A inhibition with RNAi resulted in triglyceride accumulation in HepG2 cells. The CPT1A promoter region was determined to contain two putative Sp1 binding sites, namely Sp1a and Sp1b, which might act as the GBE regulation response DNA element. (PMID:25183267)
• The present study was designed to evaluate the involvement of hexokinase and CPT-1 in the cell growth and proliferation of human prostate cancer cell lines, PC3, and LNCaP-FGC-10. (PMID:25501281)
• CPT1 is active on the outer surface of mitochondria and serves as a regulatory site for fatty acid oxidation due to its sensitivity for malonyl-CoA. CPT1a is the hepatic isoform. (PMID:26041663)
• This large-scale epigenome-wide study discovered and replicated robust associations between DNA methylation at CpG loci and obesity indices (PMID:26110892)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	cpt1aa	ENSDARG00000059770
danio_rerio	cpt1ab	ENSDARG00000062054
mus_musculus	Cpt1a	ENSMUSG00000024900
rattus_norvegicus	Cpt1a	ENSRNOG00000014254
drosophila_melanogaster	whd	FBGN0261862
caenorhabditis_elegans		WBGENE00012907
caenorhabditis_elegans		WBGENE00021002

Paralogs (6): CROT (ENSG00000005469), CHAT (ENSG00000070748), CRAT (ENSG00000095321), CPT2 (ENSG00000157184), CPT1C (ENSG00000169169), CPT1B (ENSG00000205560)

Protein

Protein identifiers

Carnitine O-palmitoyltransferase 1, liver isoform — P50416 (reviewed: P50416)

Alternative names: Carnitine O-palmitoyltransferase I, liver isoform, Carnitine palmitoyltransferase 1A, Succinyltransferase CPT1A

All UniProt accessions (5): P50416, H3BMD2, H3BP22, H3BUJ0, H3BUV7

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Also possesses a lysine succinyltransferase activity that can regulate enzymatic activity of substrate proteins such as ENO1 and metabolism independent of its classical carnitine O-palmitoyltransferase activity. Plays an important role in hepatic triglyceride metabolism. Also plays a role in inducible regulatory T-cell (iTreg) differentiation once activated by butyryl-CoA that antagonizes malonyl-CoA-mediated CPT1A repression. Sustains the IFN-I response by recruiting ZDHCC4 to palmitoylate MAVS at the mitochondria leading to MAVS stabilization and activation. Promotes ROS-induced oxidative stress in liver injury via modulation of NFE2L2 and NLRP3-mediated signaling pathways.

Subunit / interactions. Homohexamer and homotrimer. Identified in a complex that contains at least CPT1A, ACSL1 and VDAC1. Also identified in complexes with ACSL1 and VDAC2 and VDAC3. Interacts with ZDHHC4.

Subcellular location. Mitochondrion outer membrane.

Tissue specificity. Strong expression in kidney and heart, and lower in liver and skeletal muscle.

Disease relevance. Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by malonyl-CoA.

Domain organisation. A conformation change in the N-terminal region spanning the first 42 residues plays an important role in the regulation of enzyme activity by malonyl-CoA.

Induction. Up-regulated by fatty acids.

Pathway. Lipid metabolism; fatty acid beta-oxidation.

Similarity. Belongs to the carnitine/choline acetyltransferase family.

Isoforms (2)

UniProt ID	Names	Canonical?
P50416-1	1	yes
P50416-2	2

RefSeq proteins (2): NP_001027017, NP_001867* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000542	Carn_acyl_trans	Family
IPR023213	CAT-like_dom_sf	Homologous_superfamily
IPR032476	CPT_N	Domain
IPR039551	Cho/carn_acyl_trans_1_2	Domain
IPR042231	Cho/carn_acyl_trans_2	Homologous_superfamily

Pfam: PF00755, PF16484

Enzyme classification (BRENDA):

• EC 2.3.1.21 — carnitine O-palmitoyltransferase (BRENDA: 24 organisms, 112 substrates, 138 inhibitors, 206 Km, 16 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
L-CARNITINE	0.0017–127	100
PALMITOYL-COA	0.0008–25.35	67
BUTYRYL-COA	0.0051–0.03	2
DECANOYL-COA	0.0009–0.017	2
HEXANOYL-COA	0.0018–0.152	2
L-PALMITOYLCARNITINE	0.123–0.14	2
LAUROYL-COA	0.011–0.013	2
MYRISTOYL-COA	0.0012–0.031	2
OCTANOYL-COA	0.0085–0.023	2
STEAROYL-COA	0.0017–0.018	2
ACETYL-COA	0.022	1
COA	0.0055	1
DODECANOYL-COA	0.004	1
L-OCTANOYLCARNITINE	1.139	1
TRANS-2-HEXADECENOYL-COA	0.0081	1

Catalyzed reactions (Rhea), 2 shown:

• (R)-carnitine + hexadecanoyl-CoA = O-hexadecanoyl-(R)-carnitine + CoA (RHEA:12661)
• succinyl-CoA + L-lysyl-[protein] = N(6)-succinyl-L-lysyl-[protein] + CoA + H(+) (RHEA:16261)

UniProt features (43 total): sequence variant 17, modified residue 7, binding site 3, topological domain 3, transmembrane region 2, sequence conflict 2, helix 2, strand 2, initiator methionine 1, chain 1, splice variant 1, mutagenesis site 1, active site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2LE3	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P50416-F1	92.55	0.80

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 (1): 473 (proton acceptor)

Ligand- & substrate-binding residues (3): 602; 555–567; 589

Post-translational modifications (7): 2, 282, 588, 589, 604, 741, 747

Mutagenesis-validated functional residues (1):

Position	Phenotype
473	loss of carnitine o-palmitoyltransferase activity. no loss of the scaffolding activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1989781	PPARA activates gene expression
R-HSA-200425	Carnitine shuttle
R-HSA-9933387	RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression

MSigDB gene sets: 479 (showing top): GOBP_LIPID_MODIFICATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_ETHANOL, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_BEHAVIOR, KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY, YANG_BREAST_CANCER_ESR1_LASER_UP, PID_HNF3B_PATHWAY, GOBP_CELLULAR_RESPONSE_TO_LIPID, PAL_PRMT5_TARGETS_UP, GOBP_INSULIN_SECRETION, GOZGIT_ESR1_TARGETS_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP

GO Biological Process (25): response to hypoxia (GO:0001666), long-chain fatty acid metabolic process (GO:0001676), glucose metabolic process (GO:0006006), fatty acid metabolic process (GO:0006631), fatty acid beta-oxidation (GO:0006635), triglyceride metabolic process (GO:0006641), carnitine shuttle (GO:0006853), response to nutrient (GO:0007584), response to xenobiotic stimulus (GO:0009410), carnitine metabolic process (GO:0009437), epithelial cell differentiation (GO:0030855), positive regulation of fatty acid beta-oxidation (GO:0032000), eating behavior (GO:0042755), response to alkaloid (GO:0043279), positive regulation of innate immune response (GO:0045089), response to ethanol (GO:0045471), aflatoxin metabolic process (GO:0046222), regulation of insulin secretion (GO:0050796), cellular response to fatty acid (GO:0071398), liver regeneration (GO:0097421), response to tetrachloromethane (GO:1904772), cytoplasmic pattern recognition receptor signaling pathway (GO:0002753), lipid metabolic process (GO:0006629), response to nutrient levels (GO:0031667), regulation of fatty acid oxidation (GO:0046320)

GO Molecular Function (5): carnitine O-palmitoyltransferase activity (GO:0004095), protein-macromolecule adaptor activity (GO:0030674), identical protein binding (GO:0042802), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Regulation of lipid metabolism by PPARalpha	1
Fatty acid metabolism	1
Circadian clock	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to chemical	2
protein binding	2
response to stress	1
response to decreased oxygen levels	1
fatty acid metabolic process	1
hexose metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
fatty acid catabolic process	1
fatty acid ligase activity	1
fatty acid oxidation	1
acylglycerol metabolic process	1
long-chain fatty acid transport	1
intracellular lipid transport	1
fatty acid transmembrane transport	1
mitochondrial transmembrane transport	1
response to nutrient levels	1
amino-acid betaine metabolic process	1
cell differentiation	1
epithelium development	1
fatty acid beta-oxidation	1
regulation of fatty acid beta-oxidation	1
positive regulation of fatty acid oxidation	1
positive regulation of lipid catabolic process	1
feeding behavior	1
response to nitrogen compound	1
positive regulation of response to biotic stimulus	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
innate immune response	1
regulation of innate immune response	1
positive regulation of immune response	1
response to alcohol	1
mycotoxin metabolic process	1
insulin secretion	1
regulation of protein secretion	1
regulation of peptide hormone secretion	1
response to fatty acid	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1

Protein interactions and networks

STRING

2028 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CPT1A	ACSL1	P33121	933
CPT1A	SLC25A20	O43772	920
CPT1A	ACACB	O00763	879
CPT1A	ACSL3	O95573	874
CPT1A	AASDH	Q4L235	873
CPT1A	ACSL4	O60488	873
CPT1A	ACSL5	Q9ULC5	873
CPT1A	PPARA	Q07869	869
CPT1A	ACSL6	Q9UKU0	852
CPT1A	ACACA	Q13085	848
CPT1A	ACOX1	Q15067	834
CPT1A	CD36	P16671	811
CPT1A	FASN	P49327	810
CPT1A	SREBF1	P36956	808
CPT1A	PPARG	P37231	803

IntAct

141 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TBC1D9	ABHD16A	psi-mi:“MI:0914”(association)	0.640
NEURL4	APBB1	psi-mi:“MI:0914”(association)	0.530
PRKCZ	IPO5	psi-mi:“MI:0914”(association)	0.530
	XPO1	psi-mi:“MI:0914”(association)	0.530
SLC39A9	B4GALT5	psi-mi:“MI:0914”(association)	0.530
GABRG2	GPAA1	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
FLVCR1	TNFRSF10B	psi-mi:“MI:0914”(association)	0.530
SLC30A2	ESYT2	psi-mi:“MI:0914”(association)	0.530
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
CPT1A	HSPD1	psi-mi:“MI:0915”(physical association)	0.400
CACYBP	CPT1A	psi-mi:“MI:0915”(physical association)	0.400
CPT1A	CLIC1	psi-mi:“MI:0915”(physical association)	0.370
KBTBD7	CPT1A	psi-mi:“MI:0915”(physical association)	0.370
CYBA	CPT1A	psi-mi:“MI:0915”(physical association)	0.370
NR4A1	CPT1A	psi-mi:“MI:0915”(physical association)	0.370
CPT1A	HSPA5	psi-mi:“MI:0915”(physical association)	0.370
CPT1A	NPDC1	psi-mi:“MI:0915”(physical association)	0.370
Tor1aip1	PEX10	psi-mi:“MI:0914”(association)	0.350
Ppp4c	NAP1L1	psi-mi:“MI:0914”(association)	0.350
Kcnk1	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
HUWE1	NCOA4	psi-mi:“MI:0914”(association)	0.350
RAB7A		psi-mi:“MI:0914”(association)	0.350
Wdr5	MGA	psi-mi:“MI:0914”(association)	0.350
TUBG1	DPM1	psi-mi:“MI:0914”(association)	0.350
HDAC6	GLOD5	psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (230): CPT1A (Affinity Capture-RNA), CPT1A (Affinity Capture-RNA), CPT1A (Affinity Capture-RNA), CPT1A (Affinity Capture-MS), CPT1A (Affinity Capture-MS), CPT1A (Affinity Capture-Western), CPT1A (Affinity Capture-MS), CPT1A (Affinity Capture-MS), CPT1A (Affinity Capture-MS), CPT1A (Affinity Capture-MS), CPT1A (Affinity Capture-MS), CPT1A (Affinity Capture-MS), CPT1A (Affinity Capture-MS), CPT1A (Affinity Capture-MS), CPT1A (Affinity Capture-MS)

ESM2 similar proteins: A2RTX5, A2Z8S0, B2ZGJ1, F1LN46, O19094, P07668, P11035, P11466, P13222, P17569, P18886, P23786, P28329, P32198, P32738, P32756, P32796, P36859, P43155, P47934, P49696, P50416, P52825, P52826, P56523, P80235, P97742, Q03059, Q0V9S0, Q2KJB7, Q58DK1, Q5U3U3, Q60HG9, Q63704, Q68Y62, Q6P4X5, Q704S8, Q75G68, Q7ZXE1, Q80VY9

Diamond homologs: F1LN46, P28329, P32198, P50416, P97742, Q03059, Q58DK1, Q60HG9, Q63704, Q68Y62, Q8BGD5, Q8HY46, Q8TCG5, Q924X2, Q92523, B2ZGJ1, O19094, P11466, P13222, P32738, P43155, P47934, P52825, P52826, Q704S8, Q9DC50, Q9UKG9, P07668, P32756, P32796, Q90YJ9, P23786, Q2KJB7, Q5U3U3, P18886, Q00614, Q6P4X5, Q7ZXE1, P80235

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
PPARA	“up-regulates quantity by expression”	CPT1A	“transcriptional regulation”
malonyl-CoA	“down-regulates activity”	CPT1A	binding
CPT1A	“down-regulates quantity”	(R)-carnitine	“chemical modification”
CPT1A	“down-regulates quantity”	palmitoyl-CoA(4-)	“chemical modification”
CPT1A	“up-regulates quantity”	O-palmitoyl-L-carnitine	“chemical modification”
CPT1A	“up-regulates quantity”	“coenzyme A(4-)”	“chemical modification”
CPT1A	“up-regulates activity”	Fatty_acid_oxidation
malonyl-CoA	down-regulates	CPT1A	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 178 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
Metal ion SLC transporters	7	38.6×	6e-08
R-HSA-425366	9	15.0×	1e-06
SLC-mediated transmembrane transport	11	6.0×	3e-04
Transport of small molecules	15	3.5×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
zinc ion transmembrane transport	10	46.8×	6e-12
intracellular zinc ion homeostasis	9	28.9×	1e-08
negative regulation of protein-containing complex assembly	5	15.2×	3e-03
transport across blood-brain barrier	7	8.4×	3e-03
response to xenobiotic stimulus	10	4.6×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1204 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	73
Likely pathogenic	101
Uncertain significance	295
Likely benign	574
Benign	59

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1070019	NC_000011.9:g.(?68560773)(68562389_?)del	Pathogenic
1070426	NM_001876.4(CPT1A):c.1015C>T (p.Arg339Ter)	Pathogenic
1071607	NM_001876.4(CPT1A):c.76G>T (p.Glu26Ter)	Pathogenic
1073716	NM_001876.4(CPT1A):c.1895T>A (p.Leu632Ter)	Pathogenic
1075591	NM_001876.4(CPT1A):c.1709_1710del (p.Val570fs)	Pathogenic
1378009	NM_001876.4(CPT1A):c.668T>G (p.Leu223Ter)	Pathogenic
1383563	NM_001876.4(CPT1A):c.742del (p.Leu248fs)	Pathogenic
1395198	NM_001876.4(CPT1A):c.924G>A (p.Trp308Ter)	Pathogenic
1455519	NC_000011.9:g.(?68525112)(68582942_?)del	Pathogenic
1455520	NC_000011.9:g.(?68548098)(68548223_?)del	Pathogenic
1456102	NM_001876.4(CPT1A):c.1573dup (p.Glu525fs)	Pathogenic
1456264	NM_001876.4(CPT1A):c.530del (p.Pro177fs)	Pathogenic
1456414	NM_001876.4(CPT1A):c.1984dup (p.Val662fs)	Pathogenic
1694466	NM_001876.4(CPT1A):c.544_545del (p.Thr182fs)	Pathogenic
1705365	NM_001876.4(CPT1A):c.1164-2A>G	Pathogenic
1960705	NM_001876.4(CPT1A):c.1855del (p.Met619fs)	Pathogenic
1975306	NM_001876.4(CPT1A):c.1796_1797del (p.Glu599fs)	Pathogenic
1993872	NM_001876.4(CPT1A):c.1882_1885del (p.Gln628fs)	Pathogenic
1995273	NM_001876.4(CPT1A):c.1670dup (p.Ile558fs)	Pathogenic
1996250	NM_001876.4(CPT1A):c.1493del (p.Tyr498fs)	Pathogenic
1998547	NM_001876.4(CPT1A):c.1925del (p.His642fs)	Pathogenic
2019097	NM_001876.4(CPT1A):c.1767C>G (p.Tyr589Ter)	Pathogenic
2029334	NM_001876.4(CPT1A):c.1172G>A (p.Trp391Ter)	Pathogenic
2032155	NM_001876.4(CPT1A):c.1662del (p.Phe554fs)	Pathogenic
2087532	NM_001876.4(CPT1A):c.165C>A (p.Tyr55Ter)	Pathogenic
2100194	NM_001876.4(CPT1A):c.1435_1441del (p.Pro479fs)	Pathogenic
2100857	NM_001876.4(CPT1A):c.151dup (p.Ile51fs)	Pathogenic
2113313	NM_001876.4(CPT1A):c.1767C>A (p.Tyr589Ter)	Pathogenic
2424292	NC_000011.9:g.(?68564314)(68564411_?)del	Pathogenic
2424293	NC_000011.9:g.(?68527017)(68527826_?)del	Pathogenic

SpliceAI

3865 predictions. Top by Δscore:

Variant	Effect	Δscore
11:68757735:CA:C	acceptor_gain	1.0000
11:68757736:A:C	acceptor_gain	1.0000
11:68759565:ATAC:A	donor_loss	1.0000
11:68759566:TACCG:T	donor_loss	1.0000
11:68759567:A:AC	donor_gain	1.0000
11:68759568:C:A	donor_loss	1.0000
11:68759568:C:CC	donor_gain	1.0000
11:68759568:CCGT:C	donor_gain	1.0000
11:68759660:ACCT:A	acceptor_loss	1.0000
11:68759661:CCT:C	acceptor_loss	1.0000
11:68759662:C:CC	acceptor_gain	1.0000
11:68759662:CT:C	acceptor_loss	1.0000
11:68759663:T:A	acceptor_loss	1.0000
11:68760336:AACC:A	acceptor_loss	1.0000
11:68760337:ACC:A	acceptor_loss	1.0000
11:68760339:C:CG	acceptor_loss	1.0000
11:68761532:TACT:T	donor_loss	1.0000
11:68761533:A:AC	donor_gain	1.0000
11:68761533:ACT:A	donor_loss	1.0000
11:68761533:ACTT:A	donor_gain	1.0000
11:68761533:ACTTC:A	donor_gain	1.0000
11:68761534:C:CT	donor_gain	1.0000
11:68761534:CT:C	donor_gain	1.0000
11:68761534:CTT:C	donor_gain	1.0000
11:68761534:CTTC:C	donor_gain	1.0000
11:68761534:CTTCC:C	donor_gain	1.0000
11:68761536:T:A	donor_gain	1.0000
11:68761537:C:A	donor_gain	1.0000
11:68761683:TCCAC:T	acceptor_gain	1.0000
11:68761684:CCAC:C	acceptor_gain	1.0000

AlphaMissense

5096 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:68760231:A:C	F712L	1.000
11:68760231:A:T	F712L	1.000
11:68760233:A:G	F712L	1.000
11:68762704:C:A	G600W	1.000
11:68760306:G:C	S687R	0.999
11:68760306:G:T	S687R	0.999
11:68760308:T:G	S687R	0.999
11:68760323:A:G	W682R	0.999
11:68760323:A:T	W682R	0.999
11:68761599:C:G	R655P	0.999
11:68762699:C:A	R601S	0.999
11:68762699:C:G	R601S	0.999
11:68762700:C:A	R601M	0.999
11:68762700:C:G	R601T	0.999
11:68762703:C:T	G600E	0.999
11:68762704:C:G	G600R	0.999
11:68762704:C:T	G600R	0.999
11:68762737:A:G	Y589H	0.999
11:68775333:A:G	W520R	0.999
11:68775333:A:T	W520R	0.999
11:68780744:A:G	W452R	0.999
11:68780744:A:T	W452R	0.999
11:68793335:C:G	R316P	0.999
11:68796919:C:A	W236C	0.999
11:68796919:C:G	W236C	0.999
11:68796921:A:G	W236R	0.999
11:68796921:A:T	W236R	0.999
11:68799221:A:C	N230K	0.999
11:68799221:A:T	N230K	0.999
11:68760232:A:G	F712S	0.998

dbSNP variants (sampled 300 via entrez): RS1000007250 (11:68758026 G>A), RS1000051999 (11:68815663 C>T), RS1000065842 (11:68776448 T>A,C), RS1000132603 (11:68822936 G>A), RS1000152981 (11:68825545 C>T), RS1000177462 (11:68782322 C>T), RS1000188907 (11:68841810 A>G,T), RS1000247527 (11:68823269 C>A,T), RS1000335274 (11:68804771 G>C), RS1000352415 (11:68788211 A>C,G), RS1000389993 (11:68834235 A>G), RS1000419723 (11:68794690 C>T), RS1000427563 (11:68769138 A>T), RS1000435096 (11:68816646 C>G,T), RS1000470229 (11:68787860 C>T)

Disease associations

OMIM: gene MIM:600528 | disease phenotypes: MIM:255120

GenCC curated gene-disease

Disease	Classification	Inheritance
carnitine palmitoyl transferase 1A deficiency	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
carnitine palmitoyl transferase 1A deficiency	Definitive	AR

Mondo (2): carnitine palmitoyl transferase 1A deficiency (MONDO:0009705), metabolic disease (MONDO:0005066)

Orphanet (1): Carnitine palmitoyl transferase 1A deficiency (Orphanet:156)

HPO phenotypes

40 total (30 of 40 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000708	Atypical behavior
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001259	Coma
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001290	Generalized hypotonia
HP:0001315	Reduced tendon reflexes
HP:0001324	Muscle weakness
HP:0001397	Hepatic steatosis
HP:0001399	Hepatic failure
HP:0001639	Hypertrophic cardiomyopathy
HP:0001640	Cardiomegaly
HP:0001645	Sudden cardiac death
HP:0001939	Abnormality of metabolism/homeostasis
HP:0001943	Hypoglycemia
HP:0001947	Renal tubular acidosis
HP:0001985	Hypoketotic hypoglycemia
HP:0001987	Hyperammonemia
HP:0002014	Diarrhea
HP:0002167	Abnormal speech pattern
HP:0002240	Hepatomegaly
HP:0002686	Pregnancy history
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0002919	Ketonuria
HP:0003202	Skeletal muscle atrophy
HP:0003215	Dicarboxylic aciduria
HP:0003236	Elevated circulating creatine kinase concentration

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST001392_1	Lipid metabolism phenotypes	8.000000e-12
GCST001762_769	Obesity-related traits	4.000000e-06
GCST005174_38	Coronary artery calcified atherosclerotic plaque score in type 2 diabetes	8.000000e-06
GCST006666_5	Lipid traits (pleiotropy) (HIPO component 1)	3.000000e-11
GCST008972_45	Urate levels	4.000000e-12
GCST009240_189	Serum metabolite levels (CMS)	2.000000e-11
GCST009240_278	Serum metabolite levels (CMS)	4.000000e-11
GCST009240_311	Serum metabolite levels (CMS)	1.000000e-10
GCST009240_317	Serum metabolite levels (CMS)	1.000000e-10
GCST009242_148	Serum metabolite levels	5.000000e-08
GCST009242_159	Serum metabolite levels	3.000000e-10
GCST009242_277	Serum metabolite levels	2.000000e-12
GCST009242_80	Serum metabolite levels	3.000000e-13
GCST010173_104	Triglyceride levels	1.000000e-09
GCST010241_79	Apolipoprotein A1 levels	1.000000e-13
GCST010242_9	HDL cholesterol levels	1.000000e-17
GCST010244_328	Triglyceride levels	3.000000e-14

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004529	lipid measurement
EFO:0005109	energy expenditure
EFO:0004723	coronary artery calcification
EFO:0004530	triglyceride measurement
EFO:0004574	total cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004531	urate measurement
EFO:0004614	apolipoprotein A 1 measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008659	Metabolic Diseases	C18.452
C535588	Carnitine palmitoyl transferase 1A deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1293194 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,615 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1231506	TEGLICAR	2	41
CHEMBL1232077	OXFENICINE	2	1,574

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2228502	CPT1A		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Carnitine palmitoyltransferases

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
teglicar	Inhibition	5.96	pIC50
etomoxir	Inhibition	5.7	pIC50

ChEMBL bioactivities

493 potent at pChembl≥5 of 496 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.85	Kd	1.402	nM	CHEMBL3752910
8.85	ED50	1.402	nM	CHEMBL3752910
8.15	IC50	7.1	nM	CHEMBL3431816
7.94	IC50	11.6	nM	CHEMBL3431624
7.89	IC50	12.8	nM	CHEMBL3431814
7.88	IC50	13.2	nM	CHEMBL3431540
7.83	IC50	14.7	nM	CHEMBL3431837
7.82	IC50	15.15	nM	CHEMBL3431830
7.80	IC50	16	nM	CHEMBL2216778
7.79	IC50	16.2	nM	CHEMBL2216778
7.78	IC50	16.7	nM	CHEMBL3431629
7.78	IC50	16.7	nM	CHEMBL3431752
7.76	IC50	17.5	nM	CHEMBL3431919
7.73	IC50	18.6	nM	CHEMBL3431533
7.73	IC50	18.8	nM	CHEMBL3431642
7.71	IC50	19.65	nM	CHEMBL3431807
7.71	IC50	19.6	nM	CHEMBL2216774
7.71	IC50	19.3	nM	CHEMBL3431820
7.70	IC50	20	nM	CHEMBL2216774
7.70	IC50	20.1	nM	CHEMBL3431514
7.69	IC50	20.6	nM	CHEMBL2216779
7.68	IC50	21	nM	CHEMBL2216779
7.68	IC50	20.8	nM	CHEMBL3431845
7.66	IC50	21.9	nM	CHEMBL3431634
7.65	IC50	22.3	nM	CHEMBL3431627
7.65	IC50	22.6	nM	CHEMBL3431678
7.62	IC50	23.9	nM	CHEMBL3431512
7.61	IC50	24.6	nM	CHEMBL3431560
7.60	IC50	25	nM	CHEMBL3431808
7.58	IC50	26	nM	CHEMBL2216776
7.58	IC50	26.05	nM	CHEMBL3431542
7.58	IC50	26.4	nM	CHEMBL3431672
7.57	IC50	26.7	nM	CHEMBL3431535
7.57	IC50	27	nM	CHEMBL3431842
7.55	IC50	27.9	nM	CHEMBL3431675
7.54	IC50	29.2	nM	CHEMBL3431503
7.53	IC50	29.4	nM	CHEMBL3431628
7.52	IC50	30	nM	CHEMBL3431504
7.51	IC50	31.2	nM	CHEMBL3431622
7.51	IC50	31	nM	CHEMBL3431789
7.49	IC50	32.6	nM	CHEMBL3431475
7.49	IC50	32.6	nM	CHEMBL3431851
7.47	IC50	34.2	nM	CHEMBL3431515
7.47	IC50	34.2	nM	CHEMBL3431518
7.47	IC50	33.5	nM	CHEMBL3431806
7.47	IC50	33.7	nM	CHEMBL3431841
7.46	IC50	34.4	nM	CHEMBL3431502
7.46	IC50	34.5	nM	CHEMBL3431704
7.45	IC50	35.4	nM	CHEMBL3431537
7.45	IC50	35.6	nM	CHEMBL3431578

PubChem BioAssay actives

22 with measured affinity, of 46 total; 18 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148137: Binding affinity to human CPT1A incubated for 45 mins by Kinobead based pull down assay	kd	0.0014	uM
4-(5-chloro-2-methoxyphenyl)sulfonyl-6-[(3-fluorophenyl)carbamoyl]-2,3-dihydro-1,4-benzoxazine-2-carboxylic acid	719720: Inhibition of human CPT1A	ic50	0.0160	uM
2-phenoxy-1-[(2R)-2-(4-pyridin-2-yl-1,3-thiazol-2-yl)piperidin-1-yl]ethanone	719720: Inhibition of human CPT1A	ic50	0.0200	uM
4-[[1-(5-chloro-2-methoxyphenyl)sulfonyl-2,3-dihydroindole-6-carbonyl]amino]benzoic acid	719720: Inhibition of human CPT1A	ic50	0.0210	uM
N-(thiophen-2-ylmethyl)-1-[[3-(trifluoromethyl)phenyl]methyl]indazole-3-carboxamide	719720: Inhibition of human CPT1A	ic50	0.0260	uM
1-[(2R)-2-[3-(4-methoxyphenyl)-1,2,4-oxadiazol-5-yl]piperidin-1-yl]-2-phenoxyethanone	719720: Inhibition of human CPT1A	ic50	0.0650	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148137: Binding affinity to human CPT1A incubated for 45 mins by Kinobead based pull down assay	kd	0.0676	uM
(3R)-3-[4-(3-hexoxyphenoxy)butylcarbamoylamino]-4-(trimethylazaniumyl)butanoate	2084147: Inhibition of CPT1A (unknown origin)	ic50	0.1300	uM
2-[4-[[1-(2-methoxy-5-methylphenyl)sulfonyl-3,4-dihydro-2H-quinoline-7-carbonyl]amino]phenyl]acetic acid	719720: Inhibition of human CPT1A	ic50	0.1600	uM
4-[[3-[(3,4-dichlorophenyl)sulfonylamino]benzoyl]amino]benzoic acid	719720: Inhibition of human CPT1A	ic50	0.1900	uM
(2R,3S)-4-[2-[3-[[(2R)-4-[[[(2R,3S,4R,5R)-5-(4-aminoimidazo[4,5-c]pyridazin-7-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethylsulfanylmethyl]-2-octyl-5-oxooxolane-3-carboxylic acid	719631: Inhibition of CPT1A	ic50	0.2400	uM
sodium 2-[6-(4-chlorophenoxy)-1,1-difluorohexyl]oxirane-2-carboxylate	719631: Inhibition of CPT1A	ic50	0.2500	uM
(3R)-3-(tetradecylcarbamoylamino)-4-(trimethylazaniumyl)butanoate	2084144: Binding affinity to CPT1 (unknown origin) assessed as inhibition constant	ki	0.3600	uM
2-[1,1-dimethyl-3-[(4-pentylphenyl)sulfonylamino]piperidin-1-ium-3-yl]acetate	719706: Inhibition of human CPT1A expressed in Saccharomyces cerevisiae mitochondria assessed as palmitoylcarnitine by HPLC method	ic50	1.0000	uM
2-[1,1-dimethyl-4-[(4-pentylphenyl)sulfonylamino]piperidin-1-ium-4-yl]acetate	719706: Inhibition of human CPT1A expressed in Saccharomyces cerevisiae mitochondria assessed as palmitoylcarnitine by HPLC method	ic50	1.0000	uM
2-[5-(2-naphthalen-2-yloxyethoxy)thiophen-2-yl]-2-oxoacetic acid	719720: Inhibition of human CPT1A	ic50	2.4000	uM
(3R)-3-(hexadecanoylamino)-4-(trimethylazaniumyl)butanoate	719720: Inhibition of human CPT1A	ic50	2.6700	uM
(5R)-5-methyl-5-octyl-3,3-bis(prop-2-enyl)thiolane-2,4-dione	2022451: Activation of CPT-1 in digitonin-permeabilized human MCF7 cells preincubated for 2 hrs followed by digitonin addition for 6 mins by liquid scintillation method	ec50	3.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
perfluorooctanoic acid	affects cotreatment, increases expression, affects expression	12
Valproic Acid	increases methylation, affects response to substance, affects cotreatment, increases expression, affects expression (+2 more)	10
Benzo(a)pyrene	affects methylation, decreases expression, affects cotreatment, decreases reaction, increases expression (+1 more)	7
bisphenol A	decreases expression, decreases methylation, increases expression, affects cotreatment	6
perfluorooctane sulfonic acid	increases expression, affects cotreatment	6
Fenofibrate	affects cotreatment, affects expression, affects reaction, decreases expression, decreases reaction (+2 more)	6
Oleic Acid	increases expression, increases reaction, affects cotreatment, decreases expression, decreases reaction	6
Palmitic Acid	increases reaction, decreases reaction, decreases expression, affects cotreatment, affects expression (+2 more)	6
sodium arsenite	affects reaction, decreases expression, affects methylation, increases abundance, increases expression	5
Bezafibrate	affects reaction, increases expression, increases reaction, affects cotreatment, affects expression	5
pirinixic acid	increases expression, affects cotreatment, affects binding, increases activity	4
perfluoro-n-nonanoic acid	decreases expression, increases expression, affects cotreatment	4
GW 7647	affects cotreatment, increases expression, decreases expression	4
Rosiglitazone	affects cotreatment, affects expression, affects reaction, increases expression, increases reaction	4
Tetrachlorodibenzodioxin	affects expression, increases expression	4
Carnitine	decreases reaction, affects cotreatment, increases expression, decreases expression	3
Glucose	affects expression, affects reaction, decreases expression, decreases reaction, increases reaction (+1 more)	3
Oxygen	increases metabolic processing, decreases expression, decreases reaction, affects cotreatment, increases expression	3
tris(1,3-dichloro-2-propyl)phosphate	decreases expression, increases expression	2
AICA ribonucleotide	decreases reaction, increases expression	2
perfluorobutyric acid	decreases expression, increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
obeticholic acid	decreases expression, decreases reaction, increases expression	2
perfluorohexanesulfonic acid	affects expression, increases expression, affects cotreatment	2
perfluorobutanesulfonic acid	decreases expression, increases expression	2
bisphenol S	affects cotreatment, decreases expression, decreases methylation	2
Resveratrol	increases reaction, increases expression	2
Troglitazone	increases expression	2
Leflunomide	increases expression	2

ChEMBL screening assays

24 unique, capped per target: 24 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1291121	Binding	Displacement of radiolabeled L-[Methyl-14C] from CPT1 at 1 to 3 uM	Conformationally constrained NR2B selective NMDA receptor antagonists derived from ifenprodil: Synthesis and biological evaluation of tetrahydro-3-benzazepine-1,7-diols. — Bioorg Med Chem

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2V6	Abcam HEK293T CPT1A KO	Transformed cell line	Female
CVCL_E0TV	Ubigene Hep G2 CPT1A KO	Cancer cell line	Male
CVCL_SJ66	HAP1 CPT1A (-) 1	Cancer cell line	Male
CVCL_SJ67	HAP1 CPT1A (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00192621	PHASE4	COMPLETED	Seronegatives and Metabolic Abnormalities Protocol 2 (SAMA002): Study to Compare the Effect of Kaletra and Combivir® in HIV-Negative Healthy Subjects
NCT01443806	PHASE4	COMPLETED	Characterisation of the Human Carboxylesterase 1 (CES1) Mutations in Thailand
NCT02645279	PHASE4	UNKNOWN	Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates
NCT04653779	PHASE4	UNKNOWN	A Clinical Trial to Evaluate the Preference Regarding Convenience of Medication and Efficacy/Safety of SUGAMET®XR Tablet 5/1000mg
NCT05084079	PHASE4	UNKNOWN	Different Initial Insulin Dose Regimens on Time to Achieve Glycemic Targets and Treatment Safety in SIIT
NCT05855577	PHASE4	NOT_YET_RECRUITING	Motor Function Efficacy of Pharmacological Treatments Targeting Energy Metabolism, in Parkinson’s Patients
NCT06003153	PHASE4	RECRUITING	GLUCOSE-MGH: Genetic Links Understood Through Challenge With Oral Semaglutide Exposure at MGH
NCT06009653	PHASE4	WITHDRAWN	Effects of Tirzepatide Plus Intensive Lifestyle Therapy on Body Weight and Metabolic Health in Latinos With Obesity
NCT00387114	PHASE3	TERMINATED	Effect of an Anti-Oxidant Treatment on Resistin Serum Levels.A Randomized Study
NCT00546052	PHASE3	COMPLETED	A 52 Week Study to Evaluate the Effects of Losartan With or Without HCTZ on Plasma Glucose, Metabolic Parameters, Blood Pressure in Hypertensive Patients With Metabolic Syndrome (0954A-331)
NCT00607373	PHASE3	COMPLETED	Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia
NCT00694109	PHASE3	COMPLETED	An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia
NCT00935766	PHASE3	TERMINATED	Effect of Fish Oil (Omega-3 Fatty Acids) on Arteries
NCT01286909	PHASE3	UNKNOWN	Efficacy of Laflavon in Lowering Triglycerides and Raising High-Density Lipoprotein (HDL)
NCT01343680	PHASE3	TERMINATED	Trial of Two Central Venous Catheter (CVC) Flushing Schemes in Pediatric Hematology and Oncology Patients
NCT04371978	PHASE3	TERMINATED	Efficacy and Safety of Dipeptidyl Peptidase-4 Inhibitors in Diabetic Patients With Established COVID-19
NCT04809220	PHASE3	COMPLETED	A Study of Two Doses of Dulaglutide (LY2189265) in Japanese Patients With Type 2 Diabetes
NCT05260021	PHASE3	COMPLETED	A Study to Evaluate Tirzepatide (LY3298176) in Pediatric and Adolescent Participants With Type 2 Diabetes Mellitus Inadequately Controlled With Metformin or Basal Insulin or Both
NCT05425745	PHASE3	COMPLETED	Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.
NCT05505994	PHASE3	UNKNOWN	The Efficacy and Safety of DWP16001 in Combination With Metformin in T2DM Patients Inadequately Controlled on Metformin
NCT05691712	PHASE3	COMPLETED	A Study of Tirzepatide (LY3298176) in Chinese Participants With Type 2 Diabetes
NCT06568471	PHASE3	RECRUITING	A Study on Efficacy and Safety of HST101 in Chinese Patients with Hypercholesterolemia
NCT06672237	PHASE3	RECRUITING	A Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT07613307	PHASE3	NOT_YET_RECRUITING	A Study of Orforglipron (LY3502970) in Participants With Type 2 Diabetes Who Observe Ramadan Fasting
NCT00001723	PHASE2	COMPLETED	Safety and Efficacy of Xenical in Children and Adolescents With Obesity-Related Diseases
NCT00119379	PHASE2	COMPLETED	Effectiveness of Nucleoside Supplementation or Switch to Tenofovir in Reversing Fat Loss in HIV Infected Adults
NCT00362180	PHASE2	COMPLETED	Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration
NCT00446264	PHASE2	COMPLETED	Islet Allotransplantation With Steroid Free Immunosuppression
NCT00477594	PHASE2	COMPLETED	Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia
NCT00622765	PHASE2	COMPLETED	A Study of the Safety and Effectiveness of JNJ-16269110 (R256918) in Overweight and Obese Patients
NCT00707746	PHASE2	COMPLETED	Safety and Efficacy Study of ISIS 301012 (Mipomersen) Administration in High Risk Statin Intolerant Subjects
NCT01041677	PHASE2	COMPLETED	A Study of the Safety of R256918 in Obese Patients
NCT01135537	PHASE2	TERMINATED	Pharmacokinetics of Thymoglobulin in Paediatric Haematopoietic Stem-cell Transplants
NCT01596699	PHASE2	TERMINATED	Pilot Trial of Clofarabine Added to Standard Busulfan and Fludarabine for Conditioning Prior to Allogeneic Hematopoietic Cell Transplantation
NCT01927913	PHASE2	WITHDRAWN	Treatment of Iron Overload Requiring Chelation Therapy
NCT01968720	PHASE2	COMPLETED	Pilot Study To Assess CAT-2003 in Patients With Severe Hypertriglyceridemia
NCT02019667	PHASE2	COMPLETED	Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
NCT02102737	PHASE2	COMPLETED	Comparison of A New Technique of Measure of the Insulin Resistance By Scintigraphy With the Reference Technique
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT02587572	PHASE2	WITHDRAWN	Safety and Efficacy Trial Using Allogeneic Human Mesenchymal Stem Cells: The SIRONA Trial