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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CPT1C
carnitine palmitoyltransferase 1C
Chromosome 19 Β· 19q13.33
NCBI Gene: 126129Ensembl: ENSG00000169169.16HGNC: HGNC:18540UniProt: B3KU49
46PubMed Papers
21Diseases
0Drugs
16Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingendoplasmic reticulumpalmitoyl-(protein) hydrolase activitydendritehereditary spastic paraplegia 73neurodegenerative diseasehypothyroidismthyroid disease
✦AI Summary

CPT1C is a neuron-specific endoplasmic reticulum protein that functions as a metabolic sensor rather than a canonical fatty acid oxidation enzyme 1. Unlike CPT1A and CPT1B, CPT1C exhibits very low or absent carnitine palmitoyltransferase catalytic activity 23. Instead, CPT1C serves as a palmitoyl thioesterase that depalmitoylates GRIA1 to modulate AMPAR trafficking to the neuronal plasma membrane 2. CPT1C binds malonyl-CoA and couples this signal to ceramide regulation, processes essential for dendritic spine maturation and systemic energy homeostasis 4. In the hypothalamus, the malonyl-CoA-CPT1C axis regulates food intake and body weight; CPT1C knockout mice show reduced feeding and weight gain resistance to high-fat diet 5. Beyond its neuronal roles, CPT1C functions as a metabolic regulator in cancer cells by promoting lipid metabolic reprogramming and adaptation to hypoxia and nutrient stress 61. CPT1C expression correlates with poor prognosis in multiple cancers including pancreatic and gastric malignancies, and mediates immunosuppression through IL-6 signaling in cancer-associated fibroblasts 78. Mutations in CPT1C cause spastic paraplegia 73, highlighting its essential role in neuronal function.

Sources cited
1
CPT1C depalmitoylates GRIA1 to modulate AMPAR trafficking; lacks carnitine palmitoyltransferase catalytic activity
PMID: 30135643
2
CPT1C binds palmitoyl-CoA but has very low or absent CPT1 catalytic activity
PMID: 25751282
3
CPT1C binds malonyl-CoA and couples it to ceramide levels for spine maturation and energy homeostasis
PMID: 16651524
4
Hypothalamic CPT1C regulates food intake and body weight through malonyl-CoA sensing; CPT1C knockout mice show reduced feeding
PMID: 21199367
5
CPT1C functions as a metabolic sensor and regulator of lipid metabolism in cancer cells, not a direct fat burner
PMID: 36693836
6
YY1 transcriptionally activates CPT1C; CPT1C promotes pancreatic cancer proliferation and metabolism under hypoxia
PMID: 38996932
7
CPT1C+ cancer-associated fibroblasts promote immunosuppression through IL-6-induced M2-like macrophage differentiation in gastric cancer
PMID: 38746869
8
miR-1291-ERRΞ±-CPT1C axis regulates tumor cell proliferation and metabolism in breast and pancreatic cancer
PMID: 32641987
9
CPT1C is a third CPT1 homolog on chromosome 19q13.33, predominantly expressed in central nervous system, involved in glucose homeostasis
PMID: 31128263
Disease Associationsβ“˜21
hereditary spastic paraplegia 73Open Targets
0.74Strong
neurodegenerative diseaseOpen Targets
0.51Moderate
hypothyroidismOpen Targets
0.37Weak
thyroid diseaseOpen Targets
0.24Weak
myxedemaOpen Targets
0.22Weak
skull disorderOpen Targets
0.20Weak
hereditary spastic paraplegiaOpen Targets
0.17Weak
skin cancerOpen Targets
0.16Weak
Spastic paraplegiaOpen Targets
0.15Weak
neoplasmOpen Targets
0.10Weak
cancerOpen Targets
0.10Weak
self-injurious ideationOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
premature birthOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
periodontitisOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
papillary thyroid carcinomaOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
MODYOpen Targets
0.06Suggestive
Spastic paraplegia 73, autosomal dominantUniProt
Pathogenic Variants16
NM_001199753.2(CPT1C):c.1233dup (p.Ala412fs)Pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2026β†’ Residue 412
NM_001199753.2(CPT1C):c.694-2A>GLikely pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2024
NM_001199753.2(CPT1C):c.1450-2A>CLikely pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2024
NM_001199753.2(CPT1C):c.1081C>T (p.Gln361Ter)Likely pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2024β†’ Residue 361
NM_001199753.2(CPT1C):c.558C>A (p.Tyr186Ter)Pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2024β†’ Residue 186
NM_001199753.2(CPT1C):c.1045C>T (p.Arg349Ter)Likely pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2023β†’ Residue 349
NM_001199753.2(CPT1C):c.1735_1736del (p.Arg579fs)Pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2023β†’ Residue 579
NM_001199753.2(CPT1C):c.2019+1G>CLikely pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2022
NM_001199753.2(CPT1C):c.2057_2061del (p.Ile686fs)Pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2022β†’ Residue 686
NM_001199753.2(CPT1C):c.1669C>T (p.Arg557Ter)Pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2022β†’ Residue 557
NM_001199753.2(CPT1C):c.652C>T (p.Gln218Ter)Pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2022β†’ Residue 218
NM_001199753.2(CPT1C):c.1018C>T (p.Arg340Ter)Pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2020β†’ Residue 340
NM_001199753.2(CPT1C):c.2T>G (p.Met1Arg)Likely pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†2020β†’ Residue 1
NM_001199753.2(CPT1C):c.1655G>T (p.Gly552Val)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 552
NM_001199753.2(CPT1C):c.733C>T (p.Arg245Ter)Likely pathogenic
Hereditary spastic paraplegia 73
β˜…β˜†β˜†β˜†β†’ Residue 245
NM_001199753.2(CPT1C):c.109C>T (p.Arg37Cys)Pathogenic
Hereditary spastic paraplegia 73
β˜†β˜†β˜†β˜†2015β†’ Residue 37
View on ClinVar β†—
Related Genes
ACACBProtein interaction91%CHKBProtein interaction91%UCP2Protein interaction91%UCP3Protein interaction91%ACSBG2Protein interaction91%SLC25A20Protein interaction83%
Tissue Expression6 tissues
Brain
100%
Ovary
49%
Heart
19%
Lung
9%
Liver
8%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
CPT1CACACBCHKBUCP2UCP3ACSBG2SLC25A20
PROTEIN STRUCTURE
Preparing viewer…
PDB2M76 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.51–0.78]
RankingsWhere CPT1C stands among ~20K protein-coding genes
  • #9,314of 20,598
    Most Researched46
  • #2,416of 5,498
    Most Pathogenic Variants16
  • #6,368of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedCPT1C
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CPT1A-mediated Fat Oxidation, Mechanisms, and Therapeutic Potential.
PMID: 31900483
Endocrinology Β· 2020
1.00
2
The YY1-CPT1C signaling axis modulates the proliferation and metabolism of pancreatic tumor cells under hypoxia.
PMID: 38996932
Biochem Pharmacol Β· 2024
0.90
3
CPT1C-positive cancer-associated fibroblast facilitates immunosuppression through promoting IL-6-induced M2-like phenotype of macrophage.
PMID: 38746869
Oncoimmunology Β· 2024
0.80
4
A novel miR-1291-ERRΞ±-CPT1C axis modulates tumor cell proliferation, metabolism and tumorigenesis.
PMID: 32641987
Theranostics Β· 2020
0.70
5
To be or not to be a fat burner, that is the question for cpt1c in cancer cells.
PMID: 36693836
Cell Death Dis Β· 2023
0.60