ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
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Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorder with complex III deficiency
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalmitochondrial complex III deficiency, nuclear type 10
neurodegenerative disease
cardiomyopathy
lactic acidosis
propionic acidemia
mitochondrial complex III deficiency
Isolated CoQ-cytochrome C reductase deficiency
gastritis
alcohol drinking
multiple sclerosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Cytochrome b-c1 complex subunit Rieske, mitochondrial
Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation (PubMed:31883641). The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c. The Rieske protein is a catalytic core subunit containing a [2Fe-2S] iron-sulfur cluster. It cycles between 2 conformational states during catalysis to transfer electrons from the quinol bound in the Q(0) site in cytochrome b to cytochrome c1 (By similarity). Incorporation of UQCRFS1 is the penultimate step in complex III assembly (PubMed:28673544)
UQCRFS1 · P47985
Mean pLDDT
80.8/ 100
Confident
274 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
