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Literature summary extracted from

  • Yamazaki, N.; Matsuo, T.; Kurata, M.; Suzuki, M.; Fujiwaki, T.; Yamaguchi, S.; Terada, H.; Shinohara, Y.
    Substitutions of three amino acids in human heart/muscle type carnitine palmitoyltransferase I caused by single nucleotide polymorphisms (2008), Biochem. Genet., 46, 54-63.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.3.1.21 expressed in COS-7 cell Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.3.1.21 E3A used as reference mutation, similar activity as the wild-type enzyme, shows high resistance against malonyl-CoA Homo sapiens
2.3.1.21 E531K naturally occuring mutation Homo sapiens
2.3.1.21 I66V naturally occuring mutation Homo sapiens
2.3.1.21 I66V/E531K naturally occuring mutation, activity is not markedly different from wild-type enzyme, sensitivity toward malonyl-CoA is not markedly different from the sensitivity of wild-type enzyme Homo sapiens
2.3.1.21 I66V/S427C naturally occuring mutation, activity is not markedly different from wild-type enzyme, sensitivity toward malonyl-CoA is not markedly different from the sensitivity of wild-type enzyme Homo sapiens
2.3.1.21 L764R used as reference mutation, negligible activity Homo sapiens
2.3.1.21 S427C naturally occuring mutation, activity is not markedly different from wild-type enzyme, sensitivity toward malonyl-CoA is not markedly different from the sensitivity of wild-type enzyme Homo sapiens

Inhibitors

EC Number Inhibitors Comment Organism Structure
2.3.1.21 malonyl-CoA
-
 Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.3.1.21 mitochondrion
-
 Homo sapiens 5739
-

Organism

EC Number Organism UniProt Comment Textmining
2.3.1.21 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.3.1.21 heart
-
 Homo sapiens
-
2.3.1.21 muscle
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.3.1.21 L-carnitine + palmitoyl-CoA
-
 Homo sapiens L-palmitoylcarnitine + CoA
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.3.1.21 carnitine palmitoyltransferase I
-
 Homo sapiens

IC50 Value

EC Number IC50 Value IC50 Value Maximum Comment Organism Inhibitor Structure
2.3.1.21 0.00003
-
-
 Homo sapiens malonyl-CoA