InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CPT1A

Summary

InnateDB Protein

IDBP-587120.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CPT1A

Protein Name

carnitine palmitoyltransferase 1A (liver)

Synonyms

CPT1; CPT1-L; L-CPT1;

Species

Homo sapiens

Ensembl Protein

ENSP00000446108

InnateDB Gene

IDBG-61582 (CPT1A)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Mitochondrion outer membrane {ECO:0000269PubMed:11350182, ECO:0000269PubMed:14517221}; Multi- pass membrane protein {ECO:0000269PubMed:11350182, ECO:0000269PubMed:14517221}.

Disease Associations

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:0000269PubMed:11350182, ECO:0000269PubMed:11441142, ECO:0000269PubMed:12189492, ECO:0000269PubMed:14517221, ECO:0000269PubMed:15110323, ECO:0000269PubMed:15669684, ECO:0000269PubMed:9691089}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Strong expression in kidney and heart, and lower in liver and skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.

Experimentally validated
Total	31 [view]
Protein-Protein	31 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004095	carnitine O-palmitoyltransferase activity
GO:0016746	transferase activity, transferring acyl groups

Biological Process

GO:0001676	long-chain fatty acid metabolic process
GO:0006635	fatty acid beta-oxidation
GO:0006853	carnitine shuttle
GO:0009437	carnitine metabolic process
GO:0030855	epithelial cell differentiation
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process