AlphaFold predicted structure
NDUFS1 · P28331
Mean pLDDT
92.8/ 100
Very high
727 residues
Confidence breakdown
- Very high(≥ 90)90%
- Confident(70–90)5%
- Low(50–70)1%
- Very low(< 50)4%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NDUFS1
Chr 2q33.3NADH:ubiquinone oxidoreductase core subunit S1
- Aliases:
- CI-75k
- MANE:
- ENST00000233190.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalInherited white matter disorders
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorder with complex I deficiency
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
mitochondrial complex I deficiency, nuclear type 5
0.81mitochondrial complex I deficiency
0.65type 2 diabetes mellitus
0.61Parkinson disease
0.60diabetes mellitus
0.58neurodegenerative disease
0.57multiple sclerosis
0.55Leigh syndrome
0.54mitochondrial complex I deficiency, nuclear type 1
0.53Alzheimer disease
0.53
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:30879903, PubMed:31557978). Essential for catalysing the entry and efficient transfer of electrons within complex I (PubMed:31557978). Plays a key role in the assembly and stability of complex I and participates in the association of complex I with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978)
Diseases associated with NDUFS1
Curated MONDO disease pages that list NDUFS1 among their top associated genes.