NDUFS7 Gene Summary [Human]
This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NDUFS7 |
| Official Name | NADH:ubiquinone oxidoreductase core subunit S7 [Source:HGNC Symbol;Acc:HGNC:7714] |
| Ensembl ID | ENSG00000115286 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase core subunit S7, complex I 20kDa subunit, NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial |
| Synonyms | 1010001M04Rik, CI-20, CI-20KD, MC1DN3, MY017, NADH-coenzyme Q reductase, NADH:ubiquinone oxidoreductase core subunit S7, PSST |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NDUFS7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protease binding
- Ni,Fe-hydrogenase III small subunit [Energy production and conversion]
- NADH2 dehydrogenase
- monooxygenase
- enzyme
- NADH ubiquinone oxidoreductase, 20 Kd subunit
- protein binding
- NADH2 dehydrogenase (ubiquinone)
Pathways
Biological processes and signaling networks where the NDUFS7 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin resistance
- cutaneous melanoma
- cutaneous melanoma cancer
- Huntington disease
- bipolar disorder
- uterine leiomyoma
- leiomyomatosis
- nuclear type 3 mitochondrial complex I deficiency
- Leigh syndrome
- chromophobe renal cell carcinoma
regulates
- Mitochondrial ETC 1
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- synaptic membrane
- mitochondrial matrix
- mitochondrial inner membrane
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFS7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- electron transport coupled proton transport
- mitochondrial electron transport, NADH to ubiquinone
- mitochondrial respiratory chain complex I assembly
- aerobic respiration
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- respiratory chain complex I
- mitochondrial matrix
- neuronal cell body
- synaptic membrane
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- NADH dehydrogenase activity
- quinone binding
- metal ion binding
- NADH dehydrogenase (ubiquinone) activity
- protease binding
- 4 iron, 4 sulfur cluster binding
- oxidoreductase activity, acting on NADH or NADPH, quinone or similar compound as acceptor