NDUFS1 Gene Summary [Human]
The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Details
| Type | Protein Coding |
| Official Symbol | NDUFS1 |
| Official Name | NADH:ubiquinone oxidoreductase core subunit S1 [Source:HGNC Symbol;Acc:HGNC:7707] |
| Ensembl ID | ENSG00000023228 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase core subunit S1, complex I 75kDa subunit, NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial |
| Synonyms | 5830412M15RIK, 9930026A05Rik, CI-75k, CI-75Kd, MC1DN5, MITOCHONDRIAL COMPLEX I 75-KDA subunit, NADH-coenzyme Q reductase, NADH dehydrogenase precursor, 75kDa subunit, Nadh Ubiquinone Oxidoreductase 75 Kda Subunit, NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial, NADH:ubiquinone oxidoreductase core subunit S1, NDUS1, PRO1304 |
| 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 NDUFS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Molybdopterin-Binding
- NADH-quinone oxidoreductase, chain G
- electron carrier
- NADH-ubiquinone oxidoreductase subunit G, C-terminal
- fer2
- NADH2 dehydrogenase
- NADH-ubiquinone oxidoreductase-G iron-sulfur binding region
- 2Fe-2S iron-sulfur cluster binding domain
- enzyme
- protein binding
- NADH2 dehydrogenase (ubiquinone)
- Molybdopterin oxidoreductase
Pathways
Biological processes and signaling networks where the NDUFS1 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
- Huntington disease
- nuclear type 5 mitochondrial complex I deficiency
- Leigh syndrome
- hereditary disorder
- chromophobe renal cell carcinoma
- chromophobe renal cancer
- frontotemporal dementia
- mitochondrial disorder
- nuclear type 1 mitochondrial complex I deficiency
- MELAS syndrome
regulates
- reactive oxygen species
- adenosine triphosphate
- superoxide
- glutathione
- hydrogen peroxide
- oxygen
- Mitochondrial ETC 1
- Cytochrome bc1
- GPX1
role in cell
- transmembrane potential
- respiration
- production in
- consumption in
- binding in
- structural integrity
- morphology
- radiosensitivity
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
- myelin enriched fraction
- mitochondrial fraction
- cellular membrane
- Mitochondria
- mitochondrial matrix
- mitochondrial nucleoids
- mitochondrial intermembrane space
- mitochondrial inner membrane
- nuclear scaffolds
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- reactive oxygen species metabolic process
- apoptotic mitochondrial changes
- transmembrane transport
- regulation of mitochondrial membrane potential
- mitochondrial electron transport, NADH to ubiquinone
- ATP metabolic process
- cellular respiration
- 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
- mitochondrial intermembrane space
- respiratory chain complex I
- mitochondrial matrix
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- electron carrier activity
- NADH dehydrogenase (ubiquinone) activity
- 4 iron, 4 sulfur cluster binding
- 2 iron, 2 sulfur cluster binding