MT-ND1 Gene Summary [Human]
Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrial membrane. Part of mitochondrial respiratory chain complex I. Implicated in several diseases, including MELAS syndrome; neurodegenerative disease (multiple); optic nerve disease (multiple); toxic shock syndrome; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease; Parkinson's disease; and multiple sclerosis. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | MT-ND1 |
| Official Name | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 [Source:HGNC Symbol;Acc:HGNC:7455] |
| Ensembl ID | ENSG00000198888 |
| Bio databases IDs | |
| Aliases | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1, complex I ND1 subunit, NADH-ubiquinone oxidoreductase chain 1 |
| Synonyms | AK018753, NADH1, NADH dehydrogenase subunit 1, NADH-I, ND1 |
| 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 MT-ND1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NADH-quinone oxidoreductase subunit NuoH
- enzyme
- protein binding
- NADH dehydrogenase
- NADH2 dehydrogenase (ubiquinone)
Pathways
Biological processes and signaling networks where the MT-ND1 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
- epithelial cancer
- epithelial neoplasia
- cancer
- systemic lupus erythematosus
- digestive system cancer
- abdominal cancer
- Alzheimer disease
- epithelial thyroid cancer
- mitochondrial disorder
- papillary thyroid carcinoma
regulates
- lipoxin A4
- FPR2
- Mitochondrial ETC 1
- H2-M3
role in cell
- acidification
- respiration
- chemotaxis
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
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MT-ND1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to hydroperoxide
- transmembrane transport
- response to hypoxia
- mitochondrial electron transport, NADH to ubiquinone
- mitochondrial respiratory chain complex I assembly
- response to xenobiotic stimulus
- response to organic cyclic compound
- aerobic respiration
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- dendrite
- mitochondrial membrane
- respiratory chain complex I
- neuronal cell body
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- NADH dehydrogenase activity
- protein binding
- NADH dehydrogenase (ubiquinone) activity