Entity Details

Primary name CPT1A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP50416
EntryNameCPT1A_HUMAN
FullNameCarnitine O-palmitoyltransferase 1, liver isoform
TaxID9606
Evidenceevidence at protein level
Length773
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesCPT1A

GO terms

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GOName
GO:0001676 long-chain fatty acid metabolic process
GO:0004095 carnitine O-palmitoyltransferase activity
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0006006 glucose metabolic process
GO:0006631 fatty acid metabolic process
GO:0006635 fatty acid beta-oxidation
GO:0006641 triglyceride metabolic process
GO:0006853 carnitine shuttle
GO:0009437 carnitine metabolic process
GO:0010883 regulation of lipid storage
GO:0014070 response to organic cyclic compound
GO:0016020 membrane
GO:0030855 epithelial cell differentiation
GO:0031307 integral component of mitochondrial outer membrane
GO:0031667 response to nutrient levels
GO:0032000 positive regulation of fatty acid beta-oxidation
GO:0042493 response to drug
GO:0042755 eating behavior
GO:0042802 identical protein binding
GO:0043279 response to alkaloid
GO:0045471 response to ethanol
GO:0046677 response to antibiotic
GO:0050796 regulation of insulin secretion
GO:0071398 cellular response to fatty acid
GO:0097421 liver regeneration
GO:1904772 response to tetrachloromethane
GO:1990698 palmitoleoyltransferase activity

Subcellular Location

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Subcellular Location
Mitochondrion outer membrane

Domains

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DomainNameCategoryType
IPR000542 Acyltransferase ChoActase/COT/CPTFamilyFamily
IPR032476 Carnitine O-palmitoyltransferase, N-terminalDomainDomain
IPR039551 Choline/carnitine acyltransferase domainDomainDomain
IPR042231 Choline/Carnitine o-acyltransferase, domain 2FamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
255120 OMIMCarnitine palmitoyltransferase 1A deficiency (CPT1AD)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00583 LevocarnitineDrugbanksmall molecule
DB01016 GlyburideDrugbanksmall molecule
DB01074 PerhexilineDrugbanksmall molecule