|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
CPT I-liver
CPT1-L
|
|
gptkbp:associatedWith
|
hypoketotic hypoglycemia
carnitine palmitoyltransferase 1A deficiency
|
|
gptkbp:biologicalProcess
|
lipid metabolism
fatty acid beta-oxidation
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:encodes
|
carnitine O-palmitoyltransferase 1, liver isoform
|
|
gptkbp:Entrez_Gene_ID
|
1374
ENSG00000110090
|
|
gptkbp:enzymeCommissionNumber
|
2.3.1.21
|
|
gptkbp:expressedIn
|
gptkb:kidney
liver
|
|
gptkbp:fullName
|
carnitine palmitoyltransferase 1A
|
|
gptkbp:function
|
catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
gptkb:2312
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CPT1A
|
|
gptkbp:length
|
773 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:11q13.3
chromosome 11
|
|
gptkbp:molecularWeight
|
88 kDa
|
|
gptkbp:mutationAssociatedWith
|
can cause metabolic disorders
|
|
gptkbp:OMIM
|
600528
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Cpt1a
|
|
gptkbp:regulates
|
inhibited by malonyl-CoA
|
|
gptkbp:subcellularLocation
|
outer mitochondrial membrane
|
|
gptkbp:symbol
|
gptkb:CPT1A
|
|
gptkbp:UniProtID
|
P50416
|
|
gptkbp:bfsParent
|
gptkb:chromosome_11q13.1
|
|
gptkbp:bfsLayer
|
7
|