AlphaFold predicted structure
CPT1C · Q8TCG5
Mean pLDDT
88.6/ 100
Confident
803 residues
Confidence breakdown
- Very high(≥ 90)74%
- Confident(70–90)17%
- Low(50–70)3%
- Very low(< 50)7%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CPT1C
Chr 19q13.33carnitine palmitoyltransferase 1C
- Aliases:
- FLJ23809, CPTIC, CPT1P, CATL1
- MANE:
- ENST00000598293.6
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
hereditary spastic paraplegia 73
0.74neurodegenerative disease
0.51hypothyroidism
0.42thyroid gland disorder
0.25skull disorder
0.24myxedema
0.21hereditary spastic paraplegia
0.18skin cancer
0.18Spastic paraplegia
0.15self-injurious ideation
0.13
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Palmitoyl thioesterase CPT1C
Palmitoyl thioesterase specifically expressed in the endoplasmic reticulum of neurons. Modulates the trafficking of the glutamate receptor, AMPAR, to plasma membrane through depalmitoylation of GRIA1 (PubMed:30135643). Also regulates AMPR trafficking through the regulation of SACM1L phosphatidylinositol-3-phosphatase activity by interaction in a malonyl-CoA dependent manner (By similarity). Binds malonyl-CoA and couples malonyl-CoA to ceramide levels, necessary for proper spine maturation and contributing to systemic energy homeostasis and appetite control (PubMed:16651524). Binds to palmitoyl-CoA, but does not have carnitine palmitoyltransferase 1 catalytic activity or at very low levels (PubMed:25751282, PubMed:30135643)