CPT1 enzymes are comprised of an N-terminal regulatory domain and a C-terminal catalytic domain that are separated by two transmembrane helices. In CPT1A, the regulatory domain, termed N, adopts a malonyl-CoA inhibitory and non-inhibitory state, Nalpha and Nbeta, respectively, which differ in their association with the catalytic domain. In CPT1C, the inhibitory Nalpha state is structurally homolog whereas the non-inhibitory Nbeta state is severely destabilized which probably contributes to the low catalytic activity of CPT1C relative to CPT1A and makes its association with the catalytic domain unlikely.
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).
Spastic paraplegia 73, autosomal dominant
SPG73
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the carnitine/choline acetyltransferase family.
Expressed predominantly in brain and testis. Expressed in motor neurons.
CATL1, CPT1C, Palmitoyl thioesterase CPT1C, Carnitine palmitoyltransferase 1C, Carnitine palmitoyltransferase I, CPTI-B, CPT I-C
Proteins
Neuroscience
89713Da
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