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Literature summary for 2.3.1.21 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)

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

Protein Variants

Protein Variants Comment Organism
E3A used as reference mutation, similar activity as the wild-type enzyme, shows high resistance against malonyl-CoA Homo sapiens
E531K naturally occuring mutation Homo sapiens
I66V naturally occuring mutation Homo sapiens
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
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
L764R used as reference mutation, negligible activity Homo sapiens
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

Inhibitors Comment Organism Structure
malonyl-CoA
-
Homo sapiens

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
heart
-
Homo sapiens
-
muscle
-
Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
carnitine palmitoyltransferase I
-
Homo sapiens

IC50 Value

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