Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
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A homozygous UQCC3 loss-of-function variant causes isolated Complex III deficiency; patient fibroblasts have reduced Complex III activity and holocomplex levels, and cytochrome b is destabilized, placing UQCC3 in the Complex III assembly pathway downstream of UQCC1 and UQCC2.
C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization.
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C11orf83/UQCC3 is an inner-membrane protein facing the intermembrane space that stabilizes the early bc1 core complex, binds cardiolipin via α-helices 2 and 3, influences cardiolipin composition and cristae morphology, stabilizes bc1 supercomplexes (III2/IV), and is cleaved by OMA1 upon depolarization.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
UniProtKB Q6UW78 (UQCC3_HUMAN)
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UniProt curates UQCC3 as required for Complex III (cytochrome b-c1) assembly via cytochrome b recruitment/stabilization, a cardiolipin-binding single-pass inner mitochondrial membrane protein with a lipid-binding region (residues 23-80), cleaved by OMA1 under stress, and causal for MC3DN9.