CPT1B

Summary

CPT1B (carnitine palmitoyltransferase 1B, HGNC:2329) is a protein-coding gene on chromosome 22q13.33, encoding Carnitine O-palmitoyltransferase 1, muscle isoform (Q92523). 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 protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene.

Source: NCBI Gene 1375 — RefSeq curated summary.

At a glance

• Gene–disease (curated): inherited fatty acid metabolism disorder (No Known Disease Relationship, ClinGen)
• GWAS associations: 2
• Clinical variants (ClinVar): 18 total — 3 pathogenic
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_152246

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2329
Approved symbol	CPT1B
Name	carnitine palmitoyltransferase 1B
Location	22q13.33
Locus type	gene with protein product
Status	Approved
Aliases	M-CPT1, CPT1-M
Ensembl gene	ENSG00000205560
Ensembl biotype	protein_coding
OMIM	601987
Entrez	1375

Gene structure

Transcript identifiers

Ensembl transcripts: 81 — 74 protein_coding, 6 retained_intron, 1 nonsense_mediated_decay

ENST00000312108, ENST00000395650, ENST00000405237, ENST00000417176, ENST00000423069, ENST00000457250, ENST00000460853, ENST00000461117, ENST00000475238, ENST00000476790, ENST00000479886, ENST00000497224, ENST00000867451, ENST00000867452, ENST00000867453, ENST00000867454, ENST00000867455, ENST00000867456, ENST00000867457, ENST00000867458, ENST00000867459, ENST00000867460, ENST00000867461, ENST00000867462, ENST00000867463, ENST00000867464, ENST00000867465, ENST00000867466, ENST00000867467, ENST00000867468, ENST00000867469, ENST00000867470, ENST00000867471, ENST00000867472, ENST00000948031, ENST00000948032, ENST00000948033, ENST00000948034, ENST00000948035, ENST00000948036, ENST00000948037, ENST00000948038, ENST00000948039, ENST00000948040, ENST00000948041, ENST00000948042, ENST00000948043, ENST00000948044, ENST00000948045, ENST00000948046, ENST00000948047, ENST00000948048, ENST00000948049, ENST00000948050, ENST00000948051, ENST00000948052, ENST00000948053, ENST00000948054, ENST00000948055, ENST00000948056, ENST00000948057, ENST00000948058, ENST00000948059, ENST00000948060, ENST00000948061, ENST00000948062, ENST00000948063, ENST00000948064, ENST00000948065, ENST00000948066, ENST00000948067, ENST00000948068, ENST00000948069, ENST00000948070, ENST00000948071, ENST00000948072, ENST00000948073, ENST00000948074, ENST00000948075, ENST00000948076, ENST00000948077

RefSeq mRNA: 6 — MANE Select: NM_152246 NM_001145134, NM_001145135, NM_001145137, NM_004377, NM_152245, NM_152246

CCDS: CCDS14098, CCDS46734

Canonical transcript exons

ENST00000312108 — 20 exons

Exon	Start	End
ENSE00001843200	50578386	50578427
ENSE00003480061	50576857	50577034
ENSE00003507887	50576536	50576637
ENSE00003545201	50576198	50576335
ENSE00003551228	50569576	50569668
ENSE00003561484	50577775	50577934
ENSE00003570781	50570293	50570406
ENSE00003573851	50571375	50571539
ENSE00003574481	50570891	50571043
ENSE00003575265	50577324	50577463
ENSE00003619892	50571158	50571292
ENSE00003621977	50573520	50573715
ENSE00003643902	50574335	50574419
ENSE00003652759	50572203	50572308
ENSE00003653265	50572006	50572122
ENSE00003687577	50576035	50576112
ENSE00003688857	50574493	50574600
ENSE00003689160	50572875	50573060
ENSE00003693752	50569336	50569421
ENSE00003899656	50568861	50569081

Expression profiles

Bgee: expression breadth ubiquitous, 142 present calls, max score 99.17.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.6976 / max 234.2078, expressed in 141 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194793	0.9426	97
194795	0.4475	70
194794	0.1946	43
194796	0.0364	25
194797	0.0332	18
194792	0.0232	3
194791	0.0201	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.17	gold quality
heart left ventricle	UBERON:0002084	98.45	gold quality
right atrium auricular region	UBERON:0006631	98.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.88	gold quality
right testis	UBERON:0004534	97.76	gold quality
left testis	UBERON:0004533	97.75	gold quality
gastrocnemius	UBERON:0001388	97.46	gold quality
testis	UBERON:0000473	97.05	gold quality
skeletal muscle tissue	UBERON:0001134	96.90	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.90	gold quality
cerebellar hemisphere	UBERON:0002245	96.70	gold quality
cerebellar cortex	UBERON:0002129	96.56	gold quality
cerebellum	UBERON:0002037	96.50	gold quality
skeletal muscle organ	UBERON:0014892	96.45	gold quality
muscle of leg	UBERON:0001383	96.43	gold quality
granulocyte	CL:0000094	96.13	gold quality
heart	UBERON:0000948	96.03	gold quality
lower esophagus mucosa	UBERON:0035834	95.71	gold quality
mucosa of transverse colon	UBERON:0004991	95.15	gold quality
right lobe of thyroid gland	UBERON:0001119	95.07	gold quality
pituitary gland	UBERON:0000007	94.85	gold quality
left lobe of thyroid gland	UBERON:0001120	94.31	gold quality
thyroid gland	UBERON:0002046	94.13	gold quality
adenohypophysis	UBERON:0002196	93.68	gold quality
metanephros cortex	UBERON:0010533	93.60	gold quality
right uterine tube	UBERON:0001302	93.55	gold quality
duodenum	UBERON:0002114	93.48	gold quality
spleen	UBERON:0002106	93.26	gold quality
muscle tissue	UBERON:0002385	92.82	gold quality
lymph node	UBERON:0000029	92.53	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.67

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EP300, GATA4, MEF2A, MEF2C, PPARA, PPARD, PPARG, PPARGC1A, RORA, RXRA, SP1, SRF, USF2

miRNA regulators (miRDB)

9 targeting CPT1B, 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-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-4303	98.01	68.13	2304

Literature-anchored findings (GeneRIF, showing 28)

• Genetic analysis, comparison, and tissue distribution of CPT1b (PMID:12015320)
• Leucine-764 near the extreme C-terminal end of carnitine palmitoyltransferase I is important for enzyme activity. (PMID:12565845)
• Transcriptional activation of the CPT1B promotor by peroxisome proliferator-activated receptors-alpha and myocyte-specific enhancer-binding-factor 2C. (PMID:15356291)
• muscle carnitine palmitoyltransferase I has a single cysteine residue (Cys-305) important for catalysis (PMID:15579906)
• Three replacements of nucleotides resulting in missense mutations of I66V, S427C, and E531K were observed in the M-CPTI gene of patients showing abnormal fatty acid metabolism (PMID:17987377)
• A single nucleotide polymorphism located between CPT1B and CHKB, was associated with narcolepsy in Japanese (rs5770917[C], odds ratio (OR) = 1.79, combined P = 4.4 x 10(-7)) and other ancestry groups (OR = 1.40, P = 0.02). (PMID:18820697)
• Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy was significantly associated with SNP rs5770917 (located between CPT1B and CHKB) and HLA-DRB1*1501-DQB1*0602 haplotype (PMID:19404393)
• There is a novel association between common nonsynonymous coding variants in CPT1B and ectopic skeletal muscle fat among middle-aged and older African ancestry men. (PMID:19553926)
• C305 was replaceable with aspartic acid but that substitution with other amino acids caused both loss of function and reduced expression. (PMID:19937377)
• The study extends on the observation of a strong multiethnic association of polymorphisms in the TCRA and P2RY11 with narcolepsy, but does not confirm the association of CPT1B/CHKB (rs5770917) in the Chinese population. (PMID:22177342)
• Genetic mutations causative for McArdle disease, carnitine palmitoyl transferase deficiency 2, myoadenylate deaminase deficiency, and malignant hyperthermia have all been associated with Exertional rhabdomyolysis. (PMID:22538307)
• present results confirm the association of carnitine palmitoyltransferase 1B coding polymorphisms with the metabolic syndrome (PMID:22809552)
• CPT1B heterozygous variants of G320D and S427C among control subjects showed significantly higher levels of total and free carnitine in the blood compared to acute myocardial infarction patients. (PMID:23566841)
• study identified a novel haplotype consisting of the indel variation, which had not been detected in previous studies in Japanese and Korean populations, and observed four single-nucleotide polymorphisms in CHKB/CPT1B (PMID:24571861)
• E531K substitution in CPT1B decreases the mitochondrial beta-oxidation pathway, which increases the non-protein respiratory quotient value during recovery from exercise. (PMID:24905907)
• 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. CPT1b is the muscle isoform. (PMID:26041663)
• Differential DNA methylation may underlie the depressed expression of CPT1B in response to lipid, contributing to the metabolic inflexibility associated with severe obesity. (PMID:26058865)
• In subjects with PTSD, significant over-expression of CPT1B was also observed in the two common dysregulated pathways: fatty acid metabolism and PPAR. (PMID:26080315)
• CPT1b overexpression could be helping to maintain metabolic health with increasing age. Thus, it is suggested that targeting CPT1b expression might be an interesting strategy to counteract frailty at an early stage. In addition, future studies should examine the role of sirtuin in CPT1b expression regulation. (PMID:29657112)
• Low expression of CPT1B in high-grade urinary bladder cancer was associated with low fatty acid oxidation and low acyl carnitine levels. (PMID:30846479)
• Targeting CPT1B as a potential therapeutic strategy in castration-resistant and enzalutamide-resistant prostate cancer. (PMID:32648618)
• Resting skeletal muscle PNPLA2 (ATGL) and CPT1B are associated with peak fat oxidation rates in men and women but do not explain observed sex differences. (PMID:33675111)
• The impact of CPT1B rs470117, LEPR rs1137101 and BDNF rs6265 polymorphisms on the risk of developing obesity in an Italian population. (PMID:34176754)
• Low carnitine palmitoyltransferase 1 activity is a risk factor for narcolepsy type 1 and other hypersomnia. (PMID:35810398)
• CPT1B, a metabolic molecule, is also an independent risk factor in CN-AML. (PMID:36938722)
• ABHD5-CPT1B: An Important Way of Regulating Placental Lipid Metabolism in Gestational Diabetes Mellitus. (PMID:38042031)
• The influence of serum selenium in differential epigenetic and transcriptional regulation of CPT1B gene in women with obesity. (PMID:38183920)
• Integrating artificial intelligence in osteosarcoma prognosis: the prognostic significance of SERPINE2 and CPT1B biomarkers. (PMID:38383657)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	cpt1b	ENSDARG00000058285
mus_musculus	Cpt1b	ENSMUSG00000078937
rattus_norvegicus	Cpt1b	ENSRNOG00000010438
drosophila_melanogaster	whd	FBGN0261862
caenorhabditis_elegans		WBGENE00012907
caenorhabditis_elegans		WBGENE00021002

Paralogs (6): CROT (ENSG00000005469), CHAT (ENSG00000070748), CRAT (ENSG00000095321), CPT1A (ENSG00000110090), CPT2 (ENSG00000157184), CPT1C (ENSG00000169169)

Protein

Protein identifiers

Carnitine O-palmitoyltransferase 1, muscle isoform — Q92523 (reviewed: Q92523)

Alternative names: Carnitine O-palmitoyltransferase I, muscle isoform, Carnitine palmitoyltransferase 1B, Carnitine palmitoyltransferase I-like protein

All UniProt accessions (3): C9J7C3, Q92523, H7C0S1

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.

Subcellular location. Mitochondrion outer membrane.

Tissue specificity. Strong expression in heart and skeletal muscle. No expression in liver and kidney.

Pathway. Lipid metabolism; fatty acid beta-oxidation.

Miscellaneous. This protein is produced by a bicistronic gene which also produces the CHKB protein from a non-overlapping reading frame.

Similarity. Belongs to the carnitine/choline acetyltransferase family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q92523-1	1	yes
Q92523-2	2
Q92523-3	3
Q92523-4	4

RefSeq proteins (6): NP_001138606, NP_001138607, NP_001138609, NP_004368, NP_689451, NP_689452* (*=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), 1 shown:

• (R)-carnitine + hexadecanoyl-CoA = O-hexadecanoyl-(R)-carnitine + CoA (RHEA:12661)

UniProt features (20 total): sequence variant 5, splice variant 4, topological domain 3, binding site 3, transmembrane region 2, chain 1, sequence conflict 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92523-F1	92.31	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): 555–567; 589; 602

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-200425	Carnitine shuttle

MSigDB gene sets: 118 (showing top): GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, JI_RESPONSE_TO_FSH_UP, KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY, PAX4_01, PID_HNF3B_PATHWAY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, MEF2_02, CACCAGC_MIR138, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_MITOCHONDRIAL_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_MITOCHONDRIAL_TRANSMEMBRANE_TRANSPORT

GO Biological Process (7): fatty acid metabolic process (GO:0006631), fatty acid beta-oxidation (GO:0006635), carnitine shuttle (GO:0006853), carnitine metabolic process (GO:0009437), response to blue light (GO:0009637), long-chain fatty acid transport (GO:0015909), lipid metabolic process (GO:0006629)

GO Molecular Function (4): carnitine O-palmitoyltransferase activity (GO:0004095), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), mitochondrial intermembrane space (GO:0005758), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Fatty acid metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lipid metabolic process	1
monocarboxylic acid metabolic process	1
fatty acid catabolic process	1
fatty acid ligase activity	1
fatty acid oxidation	1
long-chain fatty acid transport	1
intracellular lipid transport	1
fatty acid transmembrane transport	1
mitochondrial transmembrane transport	1
amino-acid betaine metabolic process	1
response to light stimulus	1
fatty acid transport	1
primary metabolic process	1
carnitine O-acyltransferase activity	1
O-palmitoyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrial membrane	1
organelle outer membrane	1
mitochondrial envelope	1
organelle envelope lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1236 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CPT1B	CHKB	Q9Y259	946
CPT1B	SLC25A20	O43772	924
CPT1B	UCP3	P55916	842
CPT1B	AASDH	Q4L235	828
CPT1B	PPARD	Q03181	757
CPT1B	UCP2	P55851	737
CPT1B	ACADM	P11310	732
CPT1B	UCP1	P25874	727
CPT1B	PPARGC1A	Q9UBK2	722
CPT1B	PPARA	Q07869	722
CPT1B	KLF5	Q13887	713
CPT1B	PDK4	Q16654	708
CPT1B	ACADL	P28330	706
CPT1B	CD36	P16671	693
CPT1B	ACOX1	Q15067	669

IntAct

15 interactions, top by confidence:

A	B	Type	Score
TEX44	CPT1B	psi-mi:“MI:0915”(physical association)	0.720
CPT1B	GOLT1A	psi-mi:“MI:0915”(physical association)	0.560
GOLT1A	CPT1B	psi-mi:“MI:0915”(physical association)	0.560
CPT1B		psi-mi:“MI:0915”(physical association)	0.560
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CPT1B	TEX44	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (7): C2orf57 (Two-hybrid), CPT1B (Affinity Capture-MS), CPT1B (Two-hybrid), CPT1B (Two-hybrid), CPT1B (Affinity Capture-MS), CPT1B (Affinity Capture-RNA), CPT1B (Affinity Capture-RNA)

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

11 interactions.

A	Effect	B	Mechanism
malonyl-CoA	“down-regulates activity”	CPT1B	binding
CPT1B	“down-regulates quantity”	(R)-carnitine	“chemical modification”
CPT1B	“down-regulates quantity”	palmitoyl-CoA(4-)	“chemical modification”
CPT1B	“up-regulates quantity”	O-palmitoyl-L-carnitine	“chemical modification”
CPT1B	“up-regulates quantity”	“coenzyme A(4-)”	“chemical modification”
RORA	“up-regulates quantity by expression”	CPT1B	“transcriptional regulation”
PPARG	“up-regulates quantity by expression”	CPT1B	“transcriptional regulation”
RXRA	“up-regulates quantity by expression”	CPT1B	“transcriptional regulation”
MEF2C	“up-regulates quantity by expression”	CPT1B	“transcriptional regulation”
EP300	“up-regulates quantity by expression”	CPT1B	“transcriptional regulation”
PPARGC1A	“up-regulates quantity by expression”	CPT1B	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	14
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	Pathogenic
3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	Pathogenic
3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	Pathogenic

SpliceAI

3468 predictions. Top by Δscore:

Variant	Effect	Δscore
22:50569291:T:TA	donor_gain	1.0000
22:50569418:CGTT:C	acceptor_gain	1.0000
22:50569422:C:CC	acceptor_gain	1.0000
22:50569570:ACTC:A	donor_loss	1.0000
22:50569571:CT:C	donor_loss	1.0000
22:50569571:CTCA:C	donor_loss	1.0000
22:50569572:TCA:T	donor_loss	1.0000
22:50569573:CA:C	donor_loss	1.0000
22:50569574:A:AC	donor_gain	1.0000
22:50569574:A:C	donor_loss	1.0000
22:50569574:AC:A	donor_gain	1.0000
22:50569574:ACCGT:A	donor_gain	1.0000
22:50569575:C:A	donor_loss	1.0000
22:50569575:C:CA	donor_gain	1.0000
22:50569575:CC:C	donor_gain	1.0000
22:50569575:CCG:C	donor_gain	1.0000
22:50569575:CCGT:C	donor_gain	1.0000
22:50569575:CCGTC:C	donor_gain	1.0000
22:50569665:CTAC:C	acceptor_gain	1.0000
22:50569666:TAC:T	acceptor_gain	1.0000
22:50569667:AC:A	acceptor_gain	1.0000
22:50569668:CC:C	acceptor_gain	1.0000
22:50569668:CCTG:C	acceptor_loss	1.0000
22:50569669:C:A	acceptor_loss	1.0000
22:50569669:C:CC	acceptor_gain	1.0000
22:50569676:C:CT	acceptor_gain	1.0000
22:50569677:A:T	acceptor_gain	1.0000
22:50569679:C:CT	acceptor_gain	1.0000
22:50569680:A:T	acceptor_gain	1.0000
22:50570286:CACT:C	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000011939 (22:50570719 A>C,T), RS1000637581 (22:50576100 A>G), RS1000710213 (22:50580170 A>G,T), RS1001542408 (22:50569378 T>C), RS1001648291 (22:50575390 C>T), RS1001814875 (22:50575764 T>C), RS1001980632 (22:50576776 C>T), RS1002095398 (22:50570754 G>A,C,T), RS1003036601 (22:50574533 A>G,T), RS1003090303 (22:50568615 C>T), RS1003142203 (22:50568887 C>T), RS1003540987 (22:50578277 G>A), RS1003607539 (22:50577714 A>G), RS1004350925 (22:50579114 G>A,C,T), RS1004431145 (22:50576954 A>G)

Disease associations

OMIM: gene MIM:601987 | disease phenotypes:

GenCC curated gene-disease

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
inherited fatty acid metabolism disorder	No Known Disease Relationship	UD

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000236_1	Narcolepsy	6.000000e-08
GCST002147_20	Fibrinogen	3.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2216739 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 41 (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

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — Carnitine palmitoyltransferases

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
teglicar	Inhibition	4.36	pIC50

ChEMBL bioactivities

173 potent at pChembl≥5 of 254 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.80	IC50	16	nM	CHEMBL2216778
7.68	IC50	21	nM	CHEMBL2216779
6.87	IC50	133.9	nM	CHEMBL3431544
6.84	IC50	145.3	nM	CHEMBL3431722
6.80	IC50	160	nM	CHEMBL2216771
6.70	IC50	202	nM	CHEMBL3431461
6.65	IC50	226.1	nM	CHEMBL3431514
6.63	IC50	235.3	nM	CHEMBL3431634
6.59	IC50	259.2	nM	CHEMBL3431771
6.44	IC50	360	nM	CHEMBL2216769
6.40	IC50	399.5	nM	CHEMBL3431764
6.37	IC50	423.3	nM	CHEMBL3431638
6.36	IC50	438.6	nM	CHEMBL3431685
6.35	IC50	447	nM	CHEMBL3431819
6.31	IC50	490.7	nM	CHEMBL3431728
6.30	IC50	504.4	nM	CHEMBL3431471
6.29	IC50	511.9	nM	CHEMBL3431766
6.28	IC50	527.9	nM	CHEMBL3431919
6.28	IC50	530.7	nM	CHEMBL3431752
6.27	IC50	535.2	nM	CHEMBL3431632
6.26	IC50	552.9	nM	CHEMBL3431622
6.22	IC50	601.1	nM	CHEMBL3431753
6.22	IC50	601.8	nM	CHEMBL3431821
6.22	IC50	597.9	nM	CHEMBL3431893
6.21	IC50	613.8	nM	CHEMBL3431621
6.21	IC50	618.1	nM	CHEMBL3431678
6.21	IC50	619.9	nM	CHEMBL3431886
6.21	IC50	622.2	nM	CHEMBL3431888
6.20	IC50	628.3	nM	CHEMBL3431532
6.20	IC50	634.1	nM	CHEMBL3431724
6.18	IC50	661.2	nM	CHEMBL3431470
6.17	IC50	674.2	nM	CHEMBL3431533
6.16	IC50	685.5	nM	CHEMBL3431926
6.15	IC50	703.4	nM	CHEMBL3431890
6.13	IC50	747.9	nM	CHEMBL3431601
6.13	IC50	741.3	nM	CHEMBL3431512
6.12	IC50	754.7	nM	CHEMBL3431549
6.12	IC50	750.4	nM	CHEMBL3431511
6.10	IC50	792.4	nM	CHEMBL3431623
6.10	IC50	797.3	nM	CHEMBL3431679
6.09	IC50	820.3	nM	CHEMBL3431920
6.08	IC50	827.2	nM	CHEMBL3431635
6.07	IC50	843.7	nM	CHEMBL3431721
6.07	IC50	857.4	nM	CHEMBL3431879
6.04	IC50	920	nM	CHEMBL3431642
6.04	IC50	914.4	nM	CHEMBL3431924
6.03	IC50	932.4	nM	CHEMBL3431661
6.02	IC50	949.7	nM	CHEMBL3431686
6.02	IC50	954.9	nM	CHEMBL3431889
6.00	IC50	989	nM	CHEMBL3431548

PubChem BioAssay actives

9 with measured affinity, of 26 total; 8 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-(5-chloro-2-methoxyphenyl)sulfonyl-6-[(3-fluorophenyl)carbamoyl]-2,3-dihydro-1,4-benzoxazine-2-carboxylic acid	2084155: Inhibition of CPT1B (unknown origin) in KB cells	ic50	0.0160	uM
4-[[1-(5-chloro-2-methoxyphenyl)sulfonyl-2,3-dihydroindole-6-carbonyl]amino]benzoic acid	2084155: Inhibition of CPT1B (unknown origin) in KB cells	ic50	0.0210	uM
2-[5-(2-naphthalen-2-yloxyethoxy)thiophen-2-yl]-2-oxoacetic acid	719719: Inhibition of human CPT1B	ic50	0.1600	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	719632: Inhibition of CPT1B	ic50	0.3600	uM
2-[4-[[1-(2-methoxy-5-methylphenyl)sulfonyl-3,4-dihydro-2H-quinoline-7-carbonyl]amino]phenyl]acetic acid	719719: Inhibition of human CPT1B	ic50	3.5000	uM
(3R)-3-(tetradecylcarbamoylamino)-4-(trimethylazaniumyl)butanoate	719719: Inhibition of human CPT1B	ic50	5.4000	uM
(3R)-3-[4-(3-hexoxyphenoxy)butylcarbamoylamino]-4-(trimethylazaniumyl)butanoate	2084148: Inhibition of CPT1B (unknown origin)	ic50	5.4400	uM
4-[[3-[(3,4-dichlorophenyl)sulfonylamino]benzoyl]amino]benzoic acid	719719: Inhibition of human CPT1B	ic50	6.4000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
Air Pollutants	affects cotreatment, decreases expression, increases abundance, affects expression	2
Arsenic	decreases expression, increases abundance, increases expression	2
Ozone	increases abundance, affects expression, affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
lasiocarpine	decreases expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
chlortoluron	decreases expression	1
trichostatin A	decreases expression	1
beta-lapachone	decreases expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	decreases expression, increases abundance	1
di-n-hexyl phthalate	decreases expression	1
cryptotanshinone	decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
perfluoro-n-nonanoic acid	increases expression	1
abrine	increases expression	1
Rosiglitazone	increases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	decreases expression	1
Troglitazone	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Amphotericin B	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Manganese	decreases expression, increases abundance	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	increases methylation	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2216984	Binding	Inhibition of CPT1B	Carnitine palmitoyltransferase (CPT) modulators: a medicinal chemistry perspective on 35 years of research. — J Med Chem

Clinical trials (associated diseases)

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