IP subcomplex binds NDUFAF3, NDUFAF4, TIMMDC1 to form Intermediate 1

Stable Identifier
R-HSA-6799203
Type
Reaction [binding]
Species
Homo sapiens
Compartment
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Complex I assembly begins with the formation of a 315kDa subcomplex, centred around the core subunits NADH dehydrogenase [ubiquinone] iron-sulfur proteins 2 and 3 (NDUFS2 and NDUFS3) (Mckenzie & Ryan 2010, Mimaki et al. 2012, Andrews et al. 2013). NDUFS2 is thought to be bound to NDUFAF7 (Carilla-Latorre et al. 2010). Defects in NDUFS2 can cause mitochondrial complex I deficiency (MT-C1D; OMIM:252010), causing a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders (Loeffen et al. 2001). As an initial part of the 315kDa subcomplex, the subunits NDUFS7, S8 and A9, together with NDUFS2 and S3, form an evolutionarily conserved hydrogenase module as part of the Iron-Sulfur protein fraction (IP) subcomplex (termed Intermediate 1 here) (Mckenzie & Ryan 2010, Andrews et al. 2013).

Literature References
PubMed ID Title Journal Year
21924235 Understanding mitochondrial complex I assembly in health and disease

Mimaki, M, Wang, X, McKenzie, M, Thorburn, DR, Ryan, MT

Biochim. Biophys. Acta 2012
20406883 MidA is a putative methyltransferase that is required for mitochondrial complex I function

Carilla-Latorre, S, Gallardo, ME, Annesley, SJ, Calvo-Garrido, J, Graña, O, Accari, SL, Smith, PK, Valencia, A, Garesse, R, Fisher, PR, Escalante, R

J. Cell. Sci. 2010
20552642 Assembly factors of human mitochondrial complex I and their defects in disease

McKenzie, M, Ryan, MT

IUBMB Life 2010
11220739 Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Loeffen, J, Elpeleg, O, Smeitink, J, Smeets, R, Stöckler-Ipsiroglu, S, Mandel, H, Sengers, R, Trijbels, F, van den Heuvel, L

Ann. Neurol. 2001
24191001 Assembly factors for the membrane arm of human complex I

Andrews, B, Carroll, J, Ding, S, Fearnley, IM, Walker, JE

Proc. Natl. Acad. Sci. U.S.A. 2013
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