NDUFS3 Gene Summary [Human]
This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]
Details
| Type | Processed Transcript |
| Official Symbol | NDUFS3 |
| Official Name | NADH:ubiquinone oxidoreductase core subunit S3 [Source:HGNC Symbol;Acc:HGNC:7710] |
| Ensembl ID | ENSG00000213619 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase core subunit S3, complex I 30kDa subunit, NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial |
| Synonyms | 0610010M09Rik, 30 Kda, ci, CI-30, CI-30kD, MC1DN8, NADH Dehydrogenase 30kDa, NADH dehydrogenase (ubiquinone) Fe-S protein 3, NADH:ubiquinone oxidoreductase core subunit S3, NADH-UBIQUINONE REDUCTASE |
| 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 NDUFS3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PRK06074
- NADH2 dehydrogenase
- enzyme
- NADH (or F420H2) dehydrogenase, subunit C
- protein binding
- NADH2 dehydrogenase (ubiquinone)
- Respiratory-chain NADH dehydrogenase, 30 Kd subunit
Pathways
Biological processes and signaling networks where the NDUFS3 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.
regulates
- reactive oxygen species
- Mitochondrial ETC 1
disease
- chromophobe renal cell carcinoma
- chromophobe renal cancer
- Mitochondrial complex I deficiency
- Huntington disease
- hereditary disorder
- nuclear type 8 mitochondrial complex I deficiency
- insulin resistance
- venous thromboembolism
- adult acute myeloid leukemia
- Leigh syndrome
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
- Mitochondria
- mitochondrial membrane
- mitochondrial matrix
- mitochondrial inner membrane
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFS3 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
- transmembrane transport
- negative regulation of cell growth
- mitochondrial electron transport, NADH to ubiquinone
- mitochondrial respiratory chain complex I assembly
- aerobic respiration
- negative regulation of intrinsic apoptotic signaling pathway
- mitochondrial ATP synthesis coupled proton transport
- substantia nigra development
Cellular Component
Where in the cell the gene product is active
- mitochondrial membrane
- nuclear body
- respiratory chain complex I
- mitochondrial matrix
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- NADH dehydrogenase activity
- protein binding
- electron carrier activity
- NADH dehydrogenase (ubiquinone) activity