CPT1C: Carnitine Palmitoyltransferase 1C
A brain-specific regulator of fatty acid oxidation and energy homeostasis
Gene Information Card
| Symbol | CPT1C |
|---|---|
| Full Name | Carnitine Palmitoyltransferase 1C |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 126129 ncbi.nlm.nih.gov/gene/126129 |
| Ensembl ID | ENSG00000169169 |
| UniProt ID | Q8TCG5 |
| OMIM ID | 608846 |
| HGNC ID | 18538 |
| Aliases | CPT1-B, CPT1P, CPTIC, MGC138236 |
Description
CPT1C encodes a brain-specific isoform of carnitine palmitoyltransferase 1, a mitochondrial outer membrane enzyme that catalyzes the rate-limiting step of long-chain fatty acid oxidation. Unlike CPT1A and CPT1B, CPT1C is predominantly expressed in neurons and is less sensitive to malonyl-CoA inhibition. It plays a critical role in energy homeostasis, appetite regulation, and neuronal function. CPT1C is also implicated in cancer cell metabolism and survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | CPT1C modulates hypothalamic fatty acid sensing and energy balance; altered expression linked to body weight regulation | PMID: 16890539 |
| Colorectal Cancer | CPT1C overexpression promotes fatty acid oxidation and tumor growth under metabolic stress | PMID: 27794019 |
| Breast Cancer | CPT1C supports survival of cancer cells by enhancing mitochondrial fatty acid oxidation | PMID: 27794019 |
| Huntington Disease | CPT1C interacts with huntingtin protein; reduced CPT1C expression may contribute to metabolic dysfunction | PMID: 21147779 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.8 | Medium |
| Testis | 1.2 | Low |
| Adipose tissue | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
| Skeletal muscle | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 6.5 | Neuronal model |
| U-87 MG (glioblastoma) | 4.2 | Brain cancer cell line |
| MCF7 (breast cancer) | 2.1 | Hormone-responsive |
| HCT116 (colorectal) | 3.8 | Colon cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.275C>T (p.Pro92Leu) | Missense | <0.01% | Unknown functional impact |
| c.1045G>A (p.Gly349Ser) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CPT1C.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • carnitine O-palmitoyltransferase activity | • fatty acid beta-oxidation |
| • mitochondrial outer membrane | • malonyl-CoA binding |
| • response to nutrient levels | • positive regulation of fatty acid oxidation |
Pathways
• Fatty acid oxidation (Reactome: R-HSA-77289)
• Metabolism of lipids (Reactome: R-HSA-556833)
• PPAR signaling pathway (KEGG: hsa03320)
Protein Summary
CPT1C is a 802-amino acid protein localized to the mitochondrial outer membrane. It catalyzes the conversion of long-chain acyl-CoA to acylcarnitine, enabling transport into the mitochondrial matrix for beta-oxidation. CPT1C is unique among CPT1 isoforms due to its brain-enriched expression and reduced sensitivity to malonyl-CoA inhibition. It is essential for neuronal energy balance, feeding behavior, and adaptation to metabolic stress. In cancer, CPT1C supports cell survival under hypoxia and nutrient deprivation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPT1C Knockout HEK293 Cell Line | EDJ-KQ1877 | Human | 126129 | Details Get a Quote |
| CPT1C Knockout A-549 Cell Line | EDJ-KQ21761 | Human | 126129 | Details Get a Quote |
| CPT1C Knockout HCT 116 Cell Line | EDJ-KQ21762 | Human | 126129 | Details Get a Quote |
| CPT1C Knockout HeLa Cell Line | EDJ-KQ21763 | Human | 126129 | Details Get a Quote |
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