InnateDB Protein
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IDBP-61586.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CPT1A
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Protein Name
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carnitine palmitoyltransferase 1A (liver)
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Synonyms
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CPT1; CPT1-L; L-CPT1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000265641
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InnateDB Gene
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IDBG-61582 (CPT1A)
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Protein Structure
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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.
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Subcellular Localization |
Mitochondrion outer membrane {ECO:0000269PubMed:11350182, ECO:0000269PubMed:14517221}; Multi- pass membrane protein {ECO:0000269PubMed:11350182, ECO:0000269PubMed:14517221}.
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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.
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Tissue Specificity |
Strong expression in kidney and heart, and lower in liver and skeletal muscle.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
31
[view]
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Protein-Protein |
31
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000542
Acyltransferase ChoActase/COT/CPT
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PFAM |
PF00755
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P50416
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PhosphoSite |
PhosphoSite-P50416
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TrEMBL |
Q8WZ48
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UniProt Splice Variant |
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Entrez Gene |
1374
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UniGene |
Hs.717370
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RefSeq |
NP_001867
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HUGO |
HGNC:2328
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OMIM |
600528
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CCDS |
CCDS8185
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HPRD |
02755
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IMGT |
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EMBL |
AJ420378
AJ420747
AJ420748
AP000808
AP003732
BC000185
BT009791
CH471076
L39211
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GenPept |
AAC41748
AAH00185
AAP88793
CAD12576
CAD12625
CAD59673
EAW74721
EAW74722
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