NDUFA6 Gene Summary [Human]
This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | NDUFA6 |
| Official Name | NADH:ubiquinone oxidoreductase subunit A6 [Source:HGNC Symbol;Acc:HGNC:7690] |
| Ensembl ID | ENSG00000184983 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase subunit A6, complex I B14 subunit |
| Synonyms | 2700038D15Rik, B14, B230217P19Rik, CI-B14, LYRM6, MC1DN33, NADHB14, NADH DEHYDROGENASE 1 alpha, NADH DEHYDROGENASE 1 α, NADH:ubiquinone oxidoreductase subunit A6 |
| 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 NDUFA6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Complex 1 protein (LYR family)
- enzyme
- NADH2 dehydrogenase (ubiquinone)
- LYR (leucine-tyrosine-arginine) motif found in Complex1_LYR-like superfamily
Pathways
Biological processes and signaling networks where the NDUFA6 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
- schizophrenia
- Huntington disease
- nuclear type 33 mitochondrial complex I deficiency
- chronic kidney disease
- mitochondrial disorder
- hereditary disorder
- insulin resistance
- productive infection by HIV-1
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
- mitochondrial membrane
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFA6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to oxidative stress
- transmembrane 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
- mitochondrial membrane
- respiratory chain complex I
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- NADH dehydrogenase (ubiquinone) activity