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MT000146

UniProt Annotations

Entry Information

Gene Name	carnitine palmitoyltransferase 1A (liver)
Protein Entry	CPT1A_HUMAN
UniProt ID	P50416
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P50416-1; Sequence=Displayed; Name=2; IsoId=P50416-2; Sequence=VSP_012167;
Catalytic Activity	Palmitoyl-CoA + L-carnitine = CoA + L- palmitoylcarnitine. {ECO:0000269\|PubMed:11350182, ECO:0000269\|PubMed:14517221}.
Disease	Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]: Rare autosomal recessive metabolic disorder of long- chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood. {ECO:0000269\|PubMed:11350182, ECO:0000269\|PubMed:11441142, ECO:0000269\|PubMed:12189492, ECO:0000269\|PubMed:14517221, ECO:0000269\|PubMed:15110323, ECO:0000269\|PubMed:15669684, ECO:0000269\|PubMed:9691089}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	A conformation change in the N-terminal region spanning the first 42 residues plays an important role in the regulation of enzyme activity by malonyl-CoA. {ECO:0000269\|PubMed:21990363}.
Enzyme Regulation	Inhibited by malonyl-CoA. {ECO:0000269\|PubMed:14517221}.
Function	Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism.
Induction	Up-regulated by fatty acids. {ECO:0000269\|PubMed:16271724}.
Pathway	Lipid metabolism; fatty acid beta-oxidation.
Similarity	Belongs to the carnitine/choline acetyltransferase family. {ECO:0000305}.
Subcellular Location	Mitochondrion outer membrane {ECO:0000269\|PubMed:11350182, ECO:0000269\|PubMed:14517221}; Multi- pass membrane protein {ECO:0000269\|PubMed:11350182, ECO:0000269\|PubMed:14517221}.
Subunit	Homohexamer and homotrimer. Identified in a complex that contains at least CPT1A, ACSL1 and VDAC1. Also identified in complexes with ACSL1 and VDAC2 and VDAC3 (By similarity). {ECO:0000250}.
Tissue Specificity	Strong expression in kidney and heart, and lower in liver and skeletal muscle.