CPT1C Gene Summary [Human]
This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | CPT1C |
| Official Name | carnitine palmitoyltransferase 1C [Source:HGNC Symbol;Acc:HGNC:18540] |
| Ensembl ID | ENSG00000169169 |
| Bio databases IDs | |
| Aliases | carnitine palmitoyltransferase 1C |
| Synonyms | 6530437J22Rik, 9630004I06Rik, carnitine palmitoyltransferase 1C, CATL1, CPT1-B, CPT1P, CPTI-B, CPT I-C, Cpt i gamma, Cpt i γ, SPG73 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CPT1C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Choline/Carnitine o-acyltransferase
- carnitine O-palmitoyltransferase
- enzyme
- protein binding
- Carnitine O-palmitoyltransferase N-terminus
- palmitoyl-(protein) hydrolase
Pathways
Biological processes and signaling networks where the CPT1C gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant spastic paraplegia type 73
- obesity
- hypothyroidism
- weight gain
- anorexia
- diabetes mellitus
- hepatic steatosis
- nonalcoholic steatohepatitis
- insulin resistance
- hereditary spastic paraplegia
role in cell
- expression in
- synthesis in
- abnormal morphology
- senescence
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- glutaminergic synapse
- postsynaptic region
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- mitochondrial outer membrane
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CPT1C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carnitine metabolic process
- fatty acid metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex
- dendrite
- mitochondrion
- endoplasmic reticulum
- axon
Molecular Function
What the gene product does at the molecular level
- protein binding
- palmitoyl-(protein) hydrolase activity
- carnitine O-palmitoyltransferase activity