CPT1A Gene: Carnitine Palmitoyltransferase 1A
Key regulator of mitochondrial fatty acid oxidation
Gene Information Card
| Symbol | CPT1A |
|---|---|
| Full Name | carnitine palmitoyltransferase 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.3 |
| NCBI Gene ID | 1374 ncbi.nlm.nih.gov/gene/1374 |
| Ensembl ID | ENSG00000110090 |
| UniProt ID | P50416 |
| OMIM ID | 600528 |
| HGNC ID | 2328 |
| Aliases | CPT1, CPT1-L, L-CPT1 |
Description
The CPT1A gene encodes carnitine palmitoyltransferase 1A, a mitochondrial enzyme that catalyzes the conversion of long-chain fatty acyl-CoA to acylcarnitine, the rate-limiting step in mitochondrial fatty acid oxidation. It is primarily expressed in the liver and plays a critical role in energy homeostasis during fasting and metabolic stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| CPT1A deficiency (carnitine palmitoyltransferase I deficiency) | Loss-of-function mutations impair fatty acid transport into mitochondria, leading to hypoketotic hypoglycemia and hepatic encephalopathy | ClinVar, OMIM #600528 |
| Non-alcoholic fatty liver disease (NAFLD) | Altered CPT1A expression affects hepatic lipid oxidation and accumulation | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 42.3 | High |
| Kidney | 18.7 | Medium |
| Heart | 12.1 | Medium |
| Skeletal Muscle | 8.5 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 35.6 | Hepatocellular carcinoma cell line |
| HEK293 | 12.4 | Embryonic kidney cells |
| HeLa | 5.8 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1436C>T (p.Pro479Leu) | Missense | Rare | Reduced enzyme activity; associated with CPT1A deficiency |
| c.212A>G (p.Asn71Ser) | Missense | Rare | Impaired catalytic function; reported in metabolic disorders |
Mutation functional classification
Loss of Function (LOF)
Most CPT1A mutations are loss-of-function, reducing or abolishing enzyme activity, leading to impaired fatty acid oxidation and metabolic crisis.
Gain of Function (GOF)
No gain-of-function mutations are currently reported in CPT1A.
Dominant Negative (DN)
No dominant-negative mutations are currently reported in CPT1A.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004095 - carnitine O-palmitoyltransferase activity | • GO:0015908 - fatty acid transport |
| • GO:0006635 - fatty acid beta-oxidation | • GO:0005739 - mitochondrion |
| • GO:0016042 - lipid catabolic process |
Pathways
• Fatty acid oxidation (Reactome: R-HSA-77289)
• Mitochondrial carnitine shuttle (KEGG: hsa00071)
Protein Summary
CPT1A is a 773-amino acid mitochondrial outer membrane protein that catalyzes the conversion of long-chain fatty acyl-CoA to acylcarnitine. It is the rate-limiting enzyme of mitochondrial fatty acid oxidation and is allosterically inhibited by malonyl-CoA. The protein is essential for energy production during fasting and is highly expressed in the liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPT1A Knockout HEK293 Cell Line | EDJ-KQ1089 | Human | 1374 | Details Get a Quote |
| CPT1A Knockout HeLa Cell Line | EDJ-KQ18911 | Human | 1374 | Details Get a Quote |
| CPT1A Knockout A-549 Cell Line | EDJ-KQ20252 | Human | 1374 | Details Get a Quote |
| CPT1A Knockout HCT 116 Cell Line | EDJ-KQ20253 | Human | 1374 | Details Get a Quote |
| CPT1A Knockout Hep-G2 Cell Line | EDJ-KZ168 | Human | 1374 | Details Get a Quote |
| CPT1A Knockout HAP1 Cell Line | EDC08283 | Human | 1374 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
