LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs

Stable Identifier
Reaction [transition]
Homo sapiens
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Lipoate is an essential cofactor for two enzymes from energy metabolism (alpha-ketoglutarate dehydrogenase and pyruvate dehydrogenase) and three from amino acid metabolism (branched-chain ketoacid dehydrogenase, 2-oxoadipate dehydrogenase, and the glycine cleavage system). Lipoate synthesis in mitochondria requires three steps. In the third step, mitochondrial lipoyltransferase 1 (LIPT1) catalyses the transfer of a lipoyl group from lipoyl-K107-GCSH to lysine residue(s) of lipoate-dependent enzymes (Fujiwara et al. 1999). Defects in LIPT1 reduce lipoylation of pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase, causing a cofactor disorder of mitochondrial energy metabolism (Soreze et al. 2013, Tort et al. 2014).

Literature References
PubMed ID Title Journal Year
10103005 Molecular cloning, structural characterization and chromosomal localization of human lipoyltransferase gene

Fujiwara, T, Motokawa, Y, Suzuki, M, Okumachi, Y, Takahashi, E, Fujiwara, K, Okamura-Ikeda, K

Eur. J. Biochem. 1999
24256811 Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Ferrer-Cortès, X, Ribes, A, Garcia-Villoria, J, Artuch, R, Garcia-Cazorla, A, Briones, P, Quintana, E, Arias, A, Vianey-Saban, C, Acquaviva, C, Bujan, N, Tort, F, Thió, M, Matalonga, L, Navarro-Sastre, A

Hum. Mol. Genet. 2014
24341803 Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Hubert, L, Boutron, A, Mamoune, A, Hamel, Y, Chrétien, D, Barnerias, C, Habarou, F, Soreze, Y, Nonnenmacher, L, Delahodde, A, Delpech, H, Ottolenghi, C, de Lonlay, P, Nitschké, P, Boddaert, N, Correia, I, Bole-Feysot, C, Sardet, C

Orphanet J Rare Dis 2013
Catalyst Activity

acyltransferase activity of LIPT1 [mitochondrial matrix]

Orthologous Events
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