{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P50416","secondaryAccessions":["Q8TCU0","Q9BWK0"],"uniProtkbId":"CPT1A_HUMAN","entryAudit":{"firstPublicDate":"1996-10-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2004-12-07","entryVersion":222,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Carnitine O-palmitoyltransferase 1, liver isoform"},"shortNames":[{"value":"CPT1-L"}],"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11350182"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9691089"}],"value":"2.3.1.21"}]},"alternativeNames":[{"fullName":{"value":"Carnitine O-palmitoyltransferase I, liver isoform"},"shortNames":[{"value":"CPT I"},{"value":"CPTI-L"}]},{"fullName":{"value":"Carnitine palmitoyltransferase 1A"}},{"fullName":{"value":"Succinyltransferase CPT1A"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29425493"}],"value":"2.3.1.-"}]}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:2328"}],"value":"CPT1A"},"synonyms":[{"value":"CPT1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P32198"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11350182"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16651524"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29425493"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38016475"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9691089"}],"value":"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 (PubMed:11350182, PubMed:14517221, PubMed:16651524, PubMed:9691089). Also possesses a lysine succinyltransferase activity that can regulate enzymatic activity of substrate proteins such as ENO1 and metabolism independent of its classical carnitine O-palmitoyltransferase activity (PubMed:29425493). Plays an important role in hepatic triglyceride metabolism (By similarity). Also plays a role in inducible regulatory T-cell (iTreg) differentiation once activated by butyryl-CoA that antagonizes malonyl-CoA-mediated CPT1A repression (By similarity). Sustains the IFN-I response by recruiting ZDHCC4 to palmitoylate MAVS at the mitochondria leading to MAVS stabilization and activation (PubMed:38016475). Promotes ROS-induced oxidative stress in liver injury via modulation of NFE2L2 and NLRP3-mediated signaling pathways (By similarity)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"(R)-carnitine + hexadecanoyl-CoA = O-hexadecanoyl-(R)-carnitine + CoA","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:12661"},{"database":"ChEBI","id":"CHEBI:16347"},{"database":"ChEBI","id":"CHEBI:17490"},{"database":"ChEBI","id":"CHEBI:57287"},{"database":"ChEBI","id":"CHEBI:57379"}],"ecNumber":"2.3.1.21","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11350182"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16651524"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9691089"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:12662"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"11350182"}]}]},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"succinyl-CoA + L-lysyl-[protein] = N(6)-succinyl-L-lysyl-[protein] + CoA + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:16261"},{"database":"Rhea","id":"RHEA-COMP:9752"},{"database":"Rhea","id":"RHEA-COMP:11877"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:29969"},{"database":"ChEBI","id":"CHEBI:57287"},{"database":"ChEBI","id":"CHEBI:57292"},{"database":"ChEBI","id":"CHEBI:87830"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29425493"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"}],"value":"Inhibited by malonyl-CoA"}],"commentType":"ACTIVITY REGULATION"},{"commentType":"BIOPHYSICOCHEMICAL PROPERTIES","kineticParameters":{"maximumVelocities":[{"velocity":15.0,"unit":"nmol/min/mg","enzyme":"enzyme toward carnitine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11350182"}]},{"velocity":147.8,"unit":"nmol/min/mg","enzyme":"enzyme toward carnitine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"}]},{"velocity":40.0,"unit":"nmol/min/mg","enzyme":"enzyme toward palmitoyl-CoA","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11350182"}]},{"velocity":88.6,"unit":"nmol/min/mg","enzyme":"enzyme toward palmitoyl-CoA","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"}]}],"michaelisConstants":[{"constant":89.0,"unit":"uM","substrate":"carnitine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11350182"}]},{"constant":106.5,"unit":"uM","substrate":"carnitine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"}]},{"constant":43.0,"unit":"uM","substrate":"palmitoyl-CoA","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11350182"}]},{"constant":82.8,"unit":"uM","substrate":"palmitoyl-CoA","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"}]}]}},{"texts":[{"value":"Lipid metabolism; fatty acid beta-oxidation"}],"commentType":"PATHWAY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P32198"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38016475"}],"value":"Homohexamer and homotrimer (By similarity). Identified in a complex that contains at least CPT1A, ACSL1 and VDAC1 (By similarity). Also identified in complexes with ACSL1 and VDAC2 and VDAC3 (By similarity). Interacts with ZDHHC4 (PubMed:38016475)"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11350182"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"}],"value":"Mitochondrion outer membrane","id":"SL-0172"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Multi-pass membrane protein","id":"SL-9909"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["P50416-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["P50416-2"],"sequenceIds":["VSP_012167"],"isoformSequenceStatus":"Described"}]},{"texts":[{"value":"Strong expression in kidney and heart, and lower in liver and skeletal muscle"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16271724"}],"value":"Up-regulated by fatty acids"}],"commentType":"INDUCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21990363"}],"value":"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"}],"commentType":"DOMAIN"},{"commentType":"DISEASE","disease":{"diseaseId":"Carnitine palmitoyltransferase 1A deficiency","diseaseAccession":"DI-01321","acronym":"CPT1AD","description":"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.","diseaseCrossReference":{"database":"MIM","id":"255120"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11350182"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11441142"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12111367"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12189492"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15110323"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15669684"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29425493"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9691089"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the carnitine/choline acetyltransferase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Initiator methionine","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"Removed","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P32198"}]},{"type":"Chain","location":{"start":{"value":2,"modifier":"EXACT"},"end":{"value":773,"modifier":"EXACT"}},"description":"Carnitine O-palmitoyltransferase 1, liver isoform","featureId":"PRO_0000210159"},{"type":"Topological domain","location":{"start":{"value":2,"modifier":"EXACT"},"end":{"value":47,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":48,"modifier":"EXACT"},"end":{"value":73,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Topological domain","location":{"start":{"value":74,"modifier":"EXACT"},"end":{"value":102,"modifier":"EXACT"}},"description":"Mitochondrial intermembrane","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":103,"modifier":"EXACT"},"end":{"value":122,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Topological domain","location":{"start":{"value":123,"modifier":"EXACT"},"end":{"value":773,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Active site","location":{"start":{"value":473,"modifier":"EXACT"},"end":{"value":473,"modifier":"EXACT"}},"description":"Proton acceptor","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P18886"}]},{"type":"Binding site","location":{"start":{"value":555,"modifier":"EXACT"},"end":{"value":567,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:57287"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P18886"}],"ligand":{"name":"CoA","id":"ChEBI:CHEBI:57287"}},{"type":"Binding site","location":{"start":{"value":589,"modifier":"EXACT"},"end":{"value":589,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:16347"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P18886"}],"ligand":{"name":"(R)-carnitine","id":"ChEBI:CHEBI:16347"}},{"type":"Binding site","location":{"start":{"value":602,"modifier":"EXACT"},"end":{"value":602,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:16347"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P18886"}],"ligand":{"name":"(R)-carnitine","id":"ChEBI:CHEBI:16347"}},{"type":"Modified residue","location":{"start":{"value":2,"modifier":"EXACT"},"end":{"value":2,"modifier":"EXACT"}},"description":"N-acetylalanine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P32198"}]},{"type":"Modified residue","location":{"start":{"value":282,"modifier":"EXACT"},"end":{"value":282,"modifier":"EXACT"}},"description":"3'-nitrotyrosine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P32198"}]},{"type":"Modified residue","location":{"start":{"value":588,"modifier":"EXACT"},"end":{"value":588,"modifier":"EXACT"}},"description":"Phosphothreonine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P32198"}]},{"type":"Modified residue","location":{"start":{"value":589,"modifier":"EXACT"},"end":{"value":589,"modifier":"EXACT"}},"description":"3'-nitrotyrosine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P32198"}]},{"type":"Modified residue","location":{"start":{"value":604,"modifier":"EXACT"},"end":{"value":604,"modifier":"EXACT"}},"description":"Phosphothreonine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P32198"}]},{"type":"Modified residue","location":{"start":{"value":741,"modifier":"EXACT"},"end":{"value":741,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P32198"}]},{"type":"Modified residue","location":{"start":{"value":747,"modifier":"EXACT"},"end":{"value":747,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P32198"}]},{"type":"Alternative sequence","location":{"start":{"value":746,"modifier":"EXACT"},"end":{"value":773,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000303","source":"Reference","id":"Ref.3"}],"featureId":"VSP_012167","alternativeSequence":{"originalSequence":"DSHRFGRHLKEAMTDIITLFGLSSNSKK","alternativeSequences":["GIISQGPSSDT"]}},{"type":"Natural variant","location":{"start":{"value":123,"modifier":"EXACT"},"end":{"value":123,"modifier":"EXACT"}},"description":"in CPT1AD; dbSNP:rs80356775","featureCrossReferences":[{"database":"dbSNP","id":"rs80356775"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11441142"}],"featureId":"VAR_020546","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":275,"modifier":"EXACT"},"end":{"value":275,"modifier":"EXACT"}},"description":"in dbSNP:rs2229738","featureCrossReferences":[{"database":"dbSNP","id":"rs2229738"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11441142"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12189492"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"}],"featureId":"VAR_020547","alternativeSequence":{"originalSequence":"A","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":304,"modifier":"EXACT"},"end":{"value":304,"modifier":"EXACT"}},"description":"in CPT1AD; dbSNP:rs80356789","featureCrossReferences":[{"database":"dbSNP","id":"rs80356789"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11441142"}],"featureId":"VAR_020548","alternativeSequence":{"originalSequence":"C","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":314,"modifier":"EXACT"},"end":{"value":314,"modifier":"EXACT"}},"description":"in CPT1AD; dbSNP:rs80356776","featureCrossReferences":[{"database":"dbSNP","id":"rs80356776"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15669684"}],"featureId":"VAR_020549","alternativeSequence":{"originalSequence":"T","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":316,"modifier":"EXACT"},"end":{"value":316,"modifier":"EXACT"}},"description":"in CPT1AD; dbSNP:rs80356796","featureCrossReferences":[{"database":"dbSNP","id":"rs80356796"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15110323"}],"featureId":"VAR_046767","alternativeSequence":{"originalSequence":"R","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":343,"modifier":"EXACT"},"end":{"value":343,"modifier":"EXACT"}},"description":"in CPT1AD; dbSNP:rs80356783","featureCrossReferences":[{"database":"dbSNP","id":"rs80356783"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15110323"}],"featureId":"VAR_046768","alternativeSequence":{"originalSequence":"F","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":357,"modifier":"EXACT"},"end":{"value":357,"modifier":"EXACT"}},"description":"in CPT1AD; decreased stability; dbSNP:rs80356777","featureCrossReferences":[{"database":"dbSNP","id":"rs80356777"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11441142"}],"featureId":"VAR_020550","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":360,"modifier":"EXACT"},"end":{"value":360,"modifier":"EXACT"}},"description":"in CPT1AD; reduced protein levels; dbSNP:rs80356787","featureCrossReferences":[{"database":"dbSNP","id":"rs80356787"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12111367"}],"featureId":"VAR_020551","alternativeSequence":{"originalSequence":"E","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":395,"modifier":"EXACT"},"end":{"value":395,"modifier":"EXACT"}},"description":"in CPT1AD; loss of activity","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11441142"}],"featureId":"VAR_020552","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":414,"modifier":"EXACT"},"end":{"value":414,"modifier":"EXACT"}},"description":"in CPT1AD; decreased activity; dbSNP:rs80356790","featureCrossReferences":[{"database":"dbSNP","id":"rs80356790"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12189492"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"}],"featureId":"VAR_020553","alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":454,"modifier":"EXACT"},"end":{"value":454,"modifier":"EXACT"}},"description":"in CPT1AD; loss of activity; dbSNP:rs80356778","featureCrossReferences":[{"database":"dbSNP","id":"rs80356778"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9691089"}],"featureId":"VAR_020554","alternativeSequence":{"originalSequence":"D","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":465,"modifier":"EXACT"},"end":{"value":465,"modifier":"EXACT"}},"description":"in CPT1AD; dbSNP:rs80356784","featureCrossReferences":[{"database":"dbSNP","id":"rs80356784"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15110323"}],"featureId":"VAR_046769","alternativeSequence":{"originalSequence":"G","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":479,"modifier":"EXACT"},"end":{"value":479,"modifier":"EXACT"}},"description":"in CPT1AD; decreased activity; dbSNP:rs80356779","featureCrossReferences":[{"database":"dbSNP","id":"rs80356779"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11441142"}],"featureId":"VAR_020555","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":484,"modifier":"EXACT"},"end":{"value":484,"modifier":"EXACT"}},"description":"in CPT1AD; dbSNP:rs80356793","featureCrossReferences":[{"database":"dbSNP","id":"rs80356793"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11441142"}],"featureId":"VAR_020556","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":498,"modifier":"EXACT"},"end":{"value":498,"modifier":"EXACT"}},"description":"in CPT1AD; decreased activity; dbSNP:rs80356791","featureCrossReferences":[{"database":"dbSNP","id":"rs80356791"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12189492"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"}],"featureId":"VAR_020557","alternativeSequence":{"originalSequence":"Y","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":709,"modifier":"EXACT"},"end":{"value":709,"modifier":"EXACT"}},"description":"in CPT1AD; loss of activity; dbSNP:rs28936374","featureCrossReferences":[{"database":"dbSNP","id":"rs28936374"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"}],"featureId":"VAR_020558","alternativeSequence":{"originalSequence":"G","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":710,"modifier":"EXACT"},"end":{"value":710,"modifier":"EXACT"}},"description":"in CPT1AD; loss of activity; loss of carnitine O-palmitoyltransferase activity but not the lysine succinyltransferase activity; dbSNP:rs80356780","featureCrossReferences":[{"database":"dbSNP","id":"rs80356780"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11350182"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517221"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29425493"}],"featureId":"VAR_020559","alternativeSequence":{"originalSequence":"G","alternativeSequences":["E"]}},{"type":"Mutagenesis","location":{"start":{"value":473,"modifier":"EXACT"},"end":{"value":473,"modifier":"EXACT"}},"description":"Loss of carnitine O-palmitoyltransferase activity. No loss of the scaffolding activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16651524"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38016475"}],"alternativeSequence":{"originalSequence":"H","alternativeSequences":["A"]}},{"type":"Sequence conflict","location":{"start":{"value":479,"modifier":"EXACT"},"end":{"value":479,"modifier":"EXACT"}},"description":"in Ref. 1; AAC41748","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"P","alternativeSequences":["Q"]}},{"type":"Sequence conflict","location":{"start":{"value":568,"modifier":"EXACT"},"end":{"value":568,"modifier":"EXACT"}},"description":"in Ref. 1; AAC41748","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"A","alternativeSequences":["T"]}},{"type":"Helix","location":{"start":{"value":4,"modifier":"EXACT"},"end":{"value":7,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2LE3"}]},{"type":"Beta strand","location":{"start":{"value":9,"modifier":"EXACT"},"end":{"value":15,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2LE3"}]},{"type":"Beta strand","location":{"start":{"value":18,"modifier":"EXACT"},"end":{"value":23,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2LE3"}]},{"type":"Helix","location":{"start":{"value":25,"modifier":"EXACT"},"end":{"value":39,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2LE3"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0007","category":"PTM","name":"Acetylation"},{"id":"KW-0012","category":"Molecular function","name":"Acyltransferase"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0276","category":"Biological process","name":"Fatty acid metabolism"},{"id":"KW-0443","category":"Biological process","name":"Lipid metabolism"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-0496","category":"Cellular component","name":"Mitochondrion"},{"id":"KW-1000","category":"Cellular component","name":"Mitochondrion outer membrane"},{"id":"KW-0944","category":"PTM","name":"Nitration"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"id":"KW-1133","category":"Domain","name":"Transmembrane helix"},{"id":"KW-0813","category":"Biological process","name":"Transport"}],"references":[{"referenceNumber":1,"citation":{"id":"7892212","citationType":"journal article","authors":["Britton C.H.","Schultz R.A.","Zhang B.","Esser V.","Foster D.W.","McGarry J.D."],"citationCrossReferences":[{"database":"PubMed","id":"7892212"},{"database":"DOI","id":"10.1073/pnas.92.6.1984"}],"title":"Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.","publicationDate":"1995","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"1984","lastPage":"1988","volume":"92"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"12189492","citationType":"journal article","authors":["Gobin S.","Bonnefont J.-P.","Prip-Buus C.","Mugnier C.","Ferrec M.","Demaugre F.","Saudubray J.-M.","Rostane H.","Djouadi F.","Wilcox W.","Cederbaum S.","Haas R.","Nyhan W.L.","Green A.","Gray G.","Girard J.","Thuillier L."],"citationCrossReferences":[{"database":"PubMed","id":"12189492"},{"database":"DOI","id":"10.1007/s00439-002-0752-0"}],"title":"Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.","publicationDate":"2002","journal":"Hum. Genet.","firstPage":"179","lastPage":"189","volume":"111"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA]","VARIANTS CPT1AD VAL-414 AND CYS-498","VARIANT THR-275"]},{"referenceNumber":3,"citation":{"id":"CI-4IUTBOVVGSAD8","citationType":"submission","authors":["Kalnine N.","Chen X.","Rolfs A.","Halleck A.","Hines L.","Eisenstein S.","Koundinya M.","Raphael J.","Moreira D.","Kelley T.","LaBaer J.","Lin Y.","Phelan M.","Farmer A."],"title":"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.","publicationDate":"AUG-2003","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)"]},{"referenceNumber":4,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)"],"referenceComments":[{"value":"Eye","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"16651524","citationType":"journal article","authors":["Wolfgang M.J.","Kurama T.","Dai Y.","Suwa A.","Asaumi M.","Matsumoto S.","Cha S.H.","Shimokawa T.","Lane M.D."],"citationCrossReferences":[{"database":"PubMed","id":"16651524"},{"database":"DOI","id":"10.1073/pnas.0602205103"}],"title":"The brain-specific carnitine palmitoyltransferase-1c regulates energy homeostasis.","publicationDate":"2006","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"7282","lastPage":"7287","volume":"103"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","MUTAGENESIS OF HIS-473"]},{"referenceNumber":6,"citation":{"id":"16271724","citationType":"journal article","authors":["Napal L.","Marrero P.F.","Haro D."],"citationCrossReferences":[{"database":"PubMed","id":"16271724"},{"database":"DOI","id":"10.1016/j.jmb.2005.09.097"}],"title":"An intronic peroxisome proliferator-activated receptor-binding sequence mediates fatty acid induction of the human carnitine palmitoyltransferase 1A.","publicationDate":"2005","journal":"J. Mol. Biol.","firstPage":"751","lastPage":"759","volume":"354"},"referencePositions":["INDUCTION BY FATTY ACIDS"]},{"referenceNumber":7,"citation":{"id":"21269460","citationType":"journal article","authors":["Burkard T.R.","Planyavsky M.","Kaupe I.","Breitwieser F.P.","Buerckstuemmer T.","Bennett K.L.","Superti-Furga G.","Colinge J."],"citationCrossReferences":[{"database":"PubMed","id":"21269460"},{"database":"DOI","id":"10.1186/1752-0509-5-17"}],"title":"Initial characterization of the human central proteome.","publicationDate":"2011","journal":"BMC Syst. Biol.","firstPage":"17","lastPage":"17","volume":"5"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":8,"citation":{"id":"25944712","citationType":"journal article","authors":["Vaca Jacome A.S.","Rabilloud T.","Schaeffer-Reiss C.","Rompais M.","Ayoub D.","Lane L.","Bairoch A.","Van Dorsselaer A.","Carapito C."],"citationCrossReferences":[{"database":"PubMed","id":"25944712"},{"database":"DOI","id":"10.1002/pmic.201400617"}],"title":"N-terminome analysis of the human mitochondrial proteome.","publicationDate":"2015","journal":"Proteomics","firstPage":"2519","lastPage":"2524","volume":"15"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":9,"citation":{"id":"29425493","citationType":"journal article","authors":["Kurmi K.","Hitosugi S.","Wiese E.K.","Boakye-Agyeman F.","Gonsalves W.I.","Lou Z.","Karnitz L.M.","Goetz M.P.","Hitosugi T."],"citationCrossReferences":[{"database":"PubMed","id":"29425493"},{"database":"DOI","id":"10.1016/j.celrep.2018.01.030"}],"title":"Carnitine Palmitoyltransferase 1A Has a Lysine Succinyltransferase Activity.","publicationDate":"2018","journal":"Cell Rep.","firstPage":"1365","lastPage":"1373","volume":"22"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","CHARACTERIZATION OF VARIANT CPT1AD GLU-710"]},{"referenceNumber":10,"citation":{"id":"38016475","citationType":"journal article","authors":["Zhang G.","Jiang P.","Tang W.","Wang Y.","Qiu F.","An J.","Zheng Y.","Wu D.","Zhou J.","Neculai D.","Shi Y.","Sheng W."],"citationCrossReferences":[{"database":"PubMed","id":"38016475"},{"database":"DOI","id":"10.1016/j.molcel.2023.10.043"}],"title":"CPT1A induction following epigenetic perturbation promotes MAVS palmitoylation and activation to potentiate antitumor immunity.","publicationDate":"2023","journal":"Mol. Cell","firstPage":"4370","lastPage":"4385","volume":"83"},"referencePositions":["FUNCTION","INTERACTION WITH ZDHCC4","MUTAGENESIS OF HIS-473"]},{"referenceNumber":11,"citation":{"id":"14711372","citationType":"journal article","authors":["Morillas M.","Lopez-Vinas E.","Valencia A.","Serra D.","Gomez-Puertas P.","Hegardt F.G.","Asins G."],"citationCrossReferences":[{"database":"PubMed","id":"14711372"},{"database":"DOI","id":"10.1042/bj20031373"}],"title":"Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal.","publicationDate":"2004","journal":"Biochem. J.","firstPage":"777","lastPage":"784","volume":"379"},"referencePositions":["3D-STRUCTURE MODELING"]},{"referenceNumber":12,"citation":{"id":"21990363","citationType":"journal article","authors":["Rao J.N.","Warren G.Z.","Estolt-Povedano S.","Zammit V.A.","Ulmer T.S."],"citationCrossReferences":[{"database":"PubMed","id":"21990363"},{"database":"DOI","id":"10.1074/jbc.m111.306951"}],"title":"An environment-dependent structural switch underlies the regulation of carnitine palmitoyltransferase 1A.","publicationDate":"2011","journal":"J. Biol. Chem.","firstPage":"42545","lastPage":"42554","volume":"286"},"referencePositions":["STRUCTURE BY NMR OF 1-42","DOMAIN"]},{"referenceNumber":13,"citation":{"id":"9691089","citationType":"journal article","authors":["Ijlst L.","Mandel H.","Oostheim W.","Ruiter J.P.N.","Gutman A.","Wanders R.J."],"citationCrossReferences":[{"database":"PubMed","id":"9691089"},{"database":"DOI","id":"10.1172/jci2927"}],"title":"Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.","publicationDate":"1998","journal":"J. Clin. Invest.","firstPage":"527","lastPage":"531","volume":"102"},"referencePositions":["VARIANT CPT1AD GLY-454","CHARACTERIZATION OF VARIANT CPT1AD GLY-454","FUNCTION","CATALYTIC ACTIVITY"]},{"referenceNumber":14,"citation":{"id":"11441142","citationType":"journal article","authors":["Brown N.F.","Mullur R.S.","Subramanian I.","Esser V.","Bennett M.J.","Saudubray J.-M.","Feigenbaum A.S.","Kobari J.A.","Macleod P.M.","McGarry J.D.","Cohen J.C."],"citationCrossReferences":[{"database":"PubMed","id":"11441142"},{"database":"DOI","id":"10.1016/s0022-2275(20)31604-7"}],"title":"Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.","publicationDate":"2001","journal":"J. Lipid Res.","firstPage":"1134","lastPage":"1142","volume":"42"},"referencePositions":["VARIANTS CPT1AD CYS-123; TRP-304; TRP-357; ARG-395 DEL; LEU-479 AND PRO-484","VARIANT THR-275"]},{"referenceNumber":15,"citation":{"id":"11350182","citationType":"journal article","authors":["Prip-Buus C.","Thuillier L.","Abadi N.","Prasad C.","Dilling L.","Klasing J.","Demaugre F.","Greenberg C.R.","Haworth J.C.","Droin V.","Kadhom N.","Gobin S.","Kamoun P.","Girard J.","Bonnefont J.-P."],"citationCrossReferences":[{"database":"PubMed","id":"11350182"},{"database":"DOI","id":"10.1006/mgme.2001.3176"}],"title":"Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.","publicationDate":"2001","journal":"Mol. Genet. Metab.","firstPage":"46","lastPage":"54","volume":"73"},"referencePositions":["VARIANT CPT1AD GLU-710","CHARACTERIZATION OF VARIANT CPT1AD GLU-710","FUNCTION","CATALYTIC ACTIVITY","SUBCELLULAR LOCATION","BIOPHYSICOCHEMICAL PROPERTIES"]},{"referenceNumber":16,"citation":{"id":"12111367","citationType":"journal article","authors":["Ogawa E.","Kanazawa M.","Yamamoto S.","Ohtsuka S.","Ogawa A.","Ohtake A.","Takayanagi M.","Kohno Y."],"citationCrossReferences":[{"database":"PubMed","id":"12111367"},{"database":"DOI","id":"10.1007/s100380200047"}],"title":"Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.","publicationDate":"2002","journal":"J. Hum. Genet.","firstPage":"342","lastPage":"347","volume":"47"},"referencePositions":["CHARACTERIZATION OF VARIANT CPT1AD GLY-360"]},{"referenceNumber":17,"citation":{"id":"14517221","citationType":"journal article","authors":["Gobin S.","Thuillier L.","Jogl G.","Faye A.","Tong L.","Chi M.","Bonnefont J.-P.","Girard J.","Prip-Buus C."],"citationCrossReferences":[{"database":"PubMed","id":"14517221"},{"database":"DOI","id":"10.1074/jbc.m310130200"}],"title":"Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.","publicationDate":"2003","journal":"J. Biol. Chem.","firstPage":"50428","lastPage":"50434","volume":"278"},"referencePositions":["VARIANT CPT1AD GLU-709","CHARACTERIZATION OF VARIANTS CPT1AD THR-275; VAL-414; CYS-498; GLU-709 AND GLU-710","SUBCELLULAR LOCATION","FUNCTION","CATALYTIC ACTIVITY","ACTIVITY REGULATION","BIOPHYSICOCHEMICAL PROPERTIES"]},{"referenceNumber":18,"citation":{"id":"15669684","citationType":"journal article","authors":["Stoler J.M.","Sabry M.A.","Hanley C.","Hoppel C.L.","Shih V.E."],"citationCrossReferences":[{"database":"PubMed","id":"15669684"},{"database":"DOI","id":"10.1023/b:boli.0000042979.42120.55"}],"title":"Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.","publicationDate":"2004","journal":"J. Inherit. Metab. Dis.","firstPage":"679","lastPage":"684","volume":"27"},"referencePositions":["VARIANT CPT1AD ILE-314"]},{"referenceNumber":19,"citation":{"id":"15110323","citationType":"journal article","authors":["Bennett M.J.","Boriack R.L.","Narayan S.","Rutledge S.L.","Raff M.L."],"citationCrossReferences":[{"database":"PubMed","id":"15110323"},{"database":"DOI","id":"10.1016/j.ymgme.2004.02.004"}],"title":"Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.","publicationDate":"2004","journal":"Mol. Genet. Metab.","firstPage":"59","lastPage":"63","volume":"82"},"referencePositions":["VARIANTS CPT1AD GLY-316; VAL-343 AND TRP-465"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"L39211","properties":[{"key":"ProteinId","value":"AAC41748.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AJ420747","properties":[{"key":"ProteinId","value":"CAD12625.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AJ420748","properties":[{"key":"ProteinId","value":"CAD59673.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BT009791","properties":[{"key":"ProteinId","value":"AAP88793.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC000185","properties":[{"key":"ProteinId","value":"AAH00185.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS31624.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P50416-2"},{"database":"CCDS","id":"CCDS8185.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P50416-1"},{"database":"PIR","id":"I59351","properties":[{"key":"EntryName","value":"I59351"}]},{"database":"RefSeq","id":"NP_001027017.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001031847.3"}],"isoformId":"P50416-2"},{"database":"RefSeq","id":"NP_001427287.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001440358.1"}],"isoformId":"P50416-1"},{"database":"RefSeq","id":"NP_001427288.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001440359.1"}],"isoformId":"P50416-1"},{"database":"RefSeq","id":"NP_001427289.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001440360.1"}],"isoformId":"P50416-2"},{"database":"RefSeq","id":"NP_001867.2","properties":[{"key":"NucleotideSequenceId","value":"NM_001876.4"}],"isoformId":"P50416-1"},{"database":"PDB","id":"2LE3","properties":[{"key":"Method","value":"NMR"},{"key":"Resolution","value":"-"},{"key":"Chains","value":"A=1-42"}]},{"database":"PDBsum","id":"2LE3","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"BMRB","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"107765","properties":[{"key":"Interactions","value":"233"}]},{"database":"FunCoup","id":"P50416","properties":[{"key":"Number of interactors","value":"1203"}]},{"database":"IntAct","id":"P50416","properties":[{"key":"Interactions","value":"121"}]},{"database":"MINT","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-CPT1A","properties":[{"key":"Evidences","value":"13 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000265641","properties":[{"key":"Description","value":"-"}]},{"database":"BindingDB","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"ChEMBL","id":"CHEMBL1293194","properties":[{"key":"Description","value":"-"}]},{"database":"DrugBank","id":"DB01016","properties":[{"key":"GenericName","value":"Glyburide"}]},{"database":"DrugBank","id":"DB00583","properties":[{"key":"GenericName","value":"Levocarnitine"}]},{"database":"DrugBank","id":"DB01074","properties":[{"key":"GenericName","value":"Perhexiline"}]},{"database":"DrugCentral","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"SwissLipids","id":"SLP:000001056","properties":[{"key":"Description","value":"-"}]},{"database":"TCDB","id":"4.C.2.1.3","properties":[{"key":"FamilyName","value":"the carnitine o-acyl transferase (carat) family"}]},{"database":"GlyGen","id":"P50416","properties":[{"key":"glycosylation","value":"3 sites, 1 O-linked glycan (3 sites)"}]},{"database":"iPTMnet","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"MetOSite","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"SwissPalm","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"CPT1A","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"56405343","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000265641","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"56220","properties":[{"key":"Description","value":"-"}],"isoformId":"P50416-1"},{"database":"ProteomicsDB","id":"56221","properties":[{"key":"Description","value":"-"}],"isoformId":"P50416-2"},{"database":"Pumba","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"1640","properties":[{"key":"antibodies","value":"447 antibodies from 38 providers"}]},{"database":"DNASU","id":"1374","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000265641.10","properties":[{"key":"ProteinId","value":"ENSP00000265641.4"},{"key":"GeneId","value":"ENSG00000110090.14"}],"isoformId":"P50416-1"},{"database":"Ensembl","id":"ENST00000376618.6","properties":[{"key":"ProteinId","value":"ENSP00000365803.2"},{"key":"GeneId","value":"ENSG00000110090.14"}],"isoformId":"P50416-2"},{"database":"Ensembl","id":"ENST00000539743.5","properties":[{"key":"ProteinId","value":"ENSP00000446108.1"},{"key":"GeneId","value":"ENSG00000110090.14"}],"isoformId":"P50416-1"},{"database":"Ensembl","id":"ENST00000540367.5","properties":[{"key":"ProteinId","value":"ENSP00000439084.1"},{"key":"GeneId","value":"ENSG00000110090.14"}],"isoformId":"P50416-2"},{"database":"Ensembl","id":"ENST00000867662.1","properties":[{"key":"ProteinId","value":"ENSP00000537721.1"},{"key":"GeneId","value":"ENSG00000110090.14"}],"isoformId":"P50416-1"},{"database":"GeneID","id":"1374","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:1374","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000265641.10","properties":[{"key":"ProteinId","value":"ENSP00000265641.4"},{"key":"RefSeqNucleotideId","value":"NM_001876.4"},{"key":"RefSeqProteinId","value":"NP_001867.2"}]},{"database":"UCSC","id":"uc001oof.5","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"P50416-1"},{"database":"AGR","id":"HGNC:2328","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA26847","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"1374","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"1374","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"CPT1A","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"CPT1A","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:2328","properties":[{"key":"GeneName","value":"CPT1A"}]},{"database":"HPA","id":"ENSG00000110090","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"CPT1A","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"255120","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"600528","properties":[{"key":"Type","value":"gene"}]},{"database":"OpenTargets","id":"ENSG00000110090","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"156","properties":[{"key":"Disease","value":"Carnitine palmitoyl transferase 1A deficiency"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000110090","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG3716","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT01150000286917","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_013513_2_1_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"AWIQMAL","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"240216at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"P50416","properties":[{"key":"Number of GO annotations","value":"4 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"BioCyc","id":"MetaCyc:HS03286-MONOMER","properties":[{"key":"Description","value":"-"}]},{"database":"BRENDA","id":"2.3.1.21","properties":[{"key":"OrganismId","value":"2681"}]},{"database":"PathwayCommons","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-1989781","properties":[{"key":"PathwayName","value":"PPARA activates gene expression"}]},{"database":"Reactome","id":"R-HSA-200425","properties":[{"key":"PathwayName","value":"Carnitine shuttle"}]},{"database":"Reactome","id":"R-HSA-9933387","properties":[{"key":"PathwayName","value":"RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression"}]},{"database":"SABIO-RK","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"UniPathway","id":"UPA00659","properties":[{"key":"RectionId","value":"-"}]},{"database":"Agora","id":"ENSG00000110090","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"1374","properties":[{"key":"hits","value":"14 hits in 1172 CRISPR screens"}]},{"database":"CD-CODE","id":"FB4E32DD","properties":[{"key":"EntryName","value":"Presynaptic clusters and postsynaptic densities"}]},{"database":"ChiTaRS","id":"CPT1A","properties":[{"key":"OrganismName","value":"human"}]},{"database":"EvolutionaryTrace","id":"P50416","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"1374","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"P50416","properties":[{"key":"DevelopmentLevel","value":"Tchem"}]},{"database":"PRO","id":"PR:P50416","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 11"}]},{"database":"RNAct","id":"P50416","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000110090","properties":[{"key":"ExpressionPatterns","value":"Expressed in jejunal mucosa and 199 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"P50416","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0016020","properties":[{"key":"GoTerm","value":"C:membrane"},{"key":"GoEvidenceType","value":"HDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0007005","source":"PubMed","id":"19946888"}]},{"database":"GO","id":"GO:0005741","properties":[{"key":"GoTerm","value":"C:mitochondrial outer membrane"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"14517221"}]},{"database":"GO","id":"GO:0005739","properties":[{"key":"GoTerm","value":"C:mitochondrion"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"11350182"}]},{"database":"GO","id":"GO:0004095","properties":[{"key":"GoTerm","value":"F:carnitine O-palmitoyltransferase activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"11350182"}]},{"database":"GO","id":"GO:0042802","properties":[{"key":"GoTerm","value":"F:identical protein binding"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0030674","properties":[{"key":"GoTerm","value":"F:protein-macromolecule adaptor activity"},{"key":"GoEvidenceType","value":"IDA:UniProt"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"38016475"}]},{"database":"GO","id":"GO:0009437","properties":[{"key":"GoTerm","value":"P:carnitine metabolic process"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"11350182"}]},{"database":"GO","id":"GO:0006853","properties":[{"key":"GoTerm","value":"P:carnitine shuttle"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0071398","properties":[{"key":"GoTerm","value":"P:cellular response to fatty acid"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0042755","properties":[{"key":"GoTerm","value":"P:eating behavior"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0030855","properties":[{"key":"GoTerm","value":"P:epithelial cell differentiation"},{"key":"GoEvidenceType","value":"IEP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000270","source":"PubMed","id":"21492153"}]},{"database":"GO","id":"GO:0006635","properties":[{"key":"GoTerm","value":"P:fatty acid beta-oxidation"},{"key":"GoEvidenceType","value":"TAS:ProtInc"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"7892212"}]},{"database":"GO","id":"GO:0006631","properties":[{"key":"GoTerm","value":"P:fatty acid metabolic process"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0006006","properties":[{"key":"GoTerm","value":"P:glucose metabolic process"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0097421","properties":[{"key":"GoTerm","value":"P:liver regeneration"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0001676","properties":[{"key":"GoTerm","value":"P:long-chain fatty acid metabolic process"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"11350182"}]},{"database":"GO","id":"GO:0032000","properties":[{"key":"GoTerm","value":"P:positive regulation of fatty acid beta-oxidation"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0045089","properties":[{"key":"GoTerm","value":"P:positive regulation of innate immune response"},{"key":"GoEvidenceType","value":"IDA:UniProt"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"38016475"}]},{"database":"GO","id":"GO:0050796","properties":[{"key":"GoTerm","value":"P:regulation of insulin secretion"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0043279","properties":[{"key":"GoTerm","value":"P:response to alkaloid"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0045471","properties":[{"key":"GoTerm","value":"P:response to ethanol"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0001666","properties":[{"key":"GoTerm","value":"P:response to hypoxia"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0007584","properties":[{"key":"GoTerm","value":"P:response to nutrient"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:1904772","properties":[{"key":"GoTerm","value":"P:response to tetrachloromethane"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0009410","properties":[{"key":"GoTerm","value":"P:response to xenobiotic stimulus"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0006641","properties":[{"key":"GoTerm","value":"P:triglyceride metabolic process"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"FunFam","id":"3.30.559.70:FF:000001","properties":[{"key":"EntryName","value":"Carnitine O-palmitoyltransferase 1, liver isoform"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.30.559.10:FF:000002","properties":[{"key":"EntryName","value":"carnitine O-palmitoyltransferase 1, liver isoform"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"6.10.250.1760","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.30.559.10","properties":[{"key":"EntryName","value":"Chloramphenicol acetyltransferase-like domain"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.30.559.70","properties":[{"key":"EntryName","value":"Choline/Carnitine o-acyltransferase, domain 2"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR000542","properties":[{"key":"EntryName","value":"Carn_acyl_trans"}]},{"database":"InterPro","id":"IPR023213","properties":[{"key":"EntryName","value":"CAT-like_dom_sf"}]},{"database":"InterPro","id":"IPR039551","properties":[{"key":"EntryName","value":"Cho/carn_acyl_trans_1_2"}]},{"database":"InterPro","id":"IPR042231","properties":[{"key":"EntryName","value":"Cho/carn_acyl_trans_2"}]},{"database":"InterPro","id":"IPR032476","properties":[{"key":"EntryName","value":"CPT_N"}]},{"database":"PANTHER","id":"PTHR22589","properties":[{"key":"EntryName","value":"CARNITINE O-ACYLTRANSFERASE"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR22589:SF74","properties":[{"key":"EntryName","value":"CARNITINE O-PALMITOYLTRANSFERASE 1, LIVER ISOFORM"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00755","properties":[{"key":"EntryName","value":"Carn_acyltransf"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF16484","properties":[{"key":"EntryName","value":"CPT_N"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF52777","properties":[{"key":"EntryName","value":"CoA-dependent acyltransferases"},{"key":"MatchStatus","value":"2"}]},{"database":"PROSITE","id":"PS00439","properties":[{"key":"EntryName","value":"ACYLTRANSF_C_1"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00440","properties":[{"key":"EntryName","value":"ACYLTRANSF_C_2"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAEAHQAVAFQFTVTPDGIDLRLSHEALRQIYLSGLHSWKKKFIRFKNGIITGVYPASPSSWLIVVVGVMTTMYAKIDPSLGIIAKINRTLETANCMSSQTKNVVSGVLFGTGLWVALIVTMRYSLKVLLSYHGWMFTEHGKMSRATKIWMGMVKIFSGRKPMLYSFQTSLPRLPVPAVKDTVNRYLQSVRPLMKEEDFKRMTALAQDFAVGLGPRLQWYLKLKSWWATNYVSDWWEEYIYLRGRGPLMVNSNYYAMDLLYILPTHIQAARAGNAIHAILLYRRKLDREEIKPIRLLGSTIPLCSAQWERMFNTSRIPGEETDTIQHMRDSKHIVVYHRGRYFKVWLYHDGRLLKPREMEQQMQRILDNTSEPQPGEARLAALTAGDRVPWARCRQAYFGRGKNKQSLDAVEKAAFFVTLDETEEGYRSEDPDTSMDSYAKSLLHGRCYDRWFDKSFTFVVFKNGKMGLNAEHSWADAPIVAHLWEYVMSIDSLQLGYAEDGHCKGDINPNIPYPTRLQWDIPGECQEVIETSLNTANLLANDVDFHSFPFVAFGKGIIKKCRTSPDAFVQLALQLAHYKDMGKFCLTYEASMTRLFREGRTETVRSCTTESCDFVRAMVDPAQTVEQRLKLFKLASEKHQHMYRLAMTGSGIDRHLFCLYVVSKYLAVESPFLKEVLSEPWRLSTSQTPQQQVELFDLENNPEYVSSGGGFGPVADDGYGVSYILVGENLINFHISSKFSCPETDSHRFGRHLKEAMTDIITLFGLSSNSKK","length":773,"molWeight":88368,"crc64":"E5DC9141B6301947","md5":"9D1E18CAC218DFFD7F04A0B67A539089"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":2,"ACTIVITY REGULATION":1,"BIOPHYSICOCHEMICAL PROPERTIES":1,"PATHWAY":1,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":2,"TISSUE SPECIFICITY":1,"INDUCTION":1,"DOMAIN":1,"DISEASE":1,"SIMILARITY":1},"countByFeatureType":{"Initiator methionine":1,"Chain":1,"Topological domain":3,"Transmembrane":2,"Active site":1,"Binding site":3,"Modified residue":7,"Alternative sequence":1,"Natural variant":17,"Mutagenesis":1,"Sequence conflict":2,"Helix":2,"Beta strand":2},"uniParcId":"UPI000013D658"}}