Human Gene CPT1A (ENST00000265641.10) from GENCODE V44
Description: Homo sapiens carnitine palmitoyltransferase 1A (CPT1A), transcript variant 1, mRNA. (from RefSeq NM_001876) RefSeq Summary (NM_001876): The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000265641.10 Gencode Gene: ENSG00000110090.13 Transcript (Including UTRs) Position: hg38 chr11:68,754,883-68,841,916 Size: 87,034 Total Exon Count: 19 Strand: - Coding Region Position: hg38 chr11:68,757,644-68,815,474 Size: 57,831 Coding Exon Count: 18
ID:CPT1A_HUMAN DESCRIPTION: RecName: Full=Carnitine O-palmitoyltransferase 1, liver isoform; Short=CPT1-L; EC=2.3.1.21; AltName: Full=Carnitine O-palmitoyltransferase I, liver isoform; Short=CPT I; Short=CPTI-L; AltName: Full=Carnitine palmitoyltransferase 1A; 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. CATALYTIC ACTIVITY: Palmitoyl-CoA + L-carnitine = CoA + L- palmitoylcarnitine. ENZYME REGULATION: Inhibited by malonyl-CoA. PATHWAY: Lipid metabolism; fatty acid beta-oxidation. 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). SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Strong expression in kidney and heart, and lower in liver and skeletal muscle. INDUCTION: Up-regulated by fatty acids. 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. DISEASE: Defects in CPT1A are the cause of carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]; also known as CPT-I deficiency or CPT1A deficiency. CPT1AD is a 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. SIMILARITY: Belongs to the carnitine/choline acetyltransferase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CPT1A";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P50416
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BioCarta from NCI Cancer Genome Anatomy Project h_leptinPathway - Reversal of Insulin Resistance by Leptin h_cptPathway - Mitochondrial Carnitine Palmitoyltransferase (CPT) System
Reactome (by CSHL, EBI, and GO)
Protein P50416 (Reactome details) participates in the following event(s):
US Server
