NDUFV1

Chr 11q13.2

NADH:ubiquinone oxidoreductase core subunit V1

Aliases:: CI-51K
MANE:: ENST00000322776.11

OMIM: 161015 ↗NCBI: 4723 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

NDUFV1 · P49821

v62025-08-01

Predicted Aligned Error matrix for NDUFV1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.4/ 100

Very high

464 residues

Confidence breakdown

Very high(≥ 90)90%
Confident(70–90)4%
Low(50–70)0%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

mitochondrial complex I deficiency
0.79
mitochondrial complex I deficiency, nuclear type 4
0.72
mitochondrial complex I deficiency, nuclear type 1
0.69
Leigh syndrome
0.64
type 2 diabetes mellitus
0.61
mitochondrial disease
0.61
inborn mitochondrial metabolism disorder
0.60
diabetes mellitus
0.58
neurodegenerative disease
0.54
Parkinson disease
0.52

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

NADH dehydrogenase [ubiquinone] flavoprotein 1, 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:28844695). Part of the peripheral arm of the enzyme, where the electrons from NADH are accepted by flavin mononucleotide (FMN) and then passed along a chain of iron-sulfur clusters by electron tunnelling to the final acceptor ubiquinone (PubMed:28844695). Contains FMN, which is the initial electron acceptor as well as one iron-sulfur cluster (PubMed:28844695)