MT-ND4 Gene Summary [Human]
Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Part of mitochondrial respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Parkinson's disease; macular degeneration; and schizophrenia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | MT-ND4 |
| Official Name | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 [Source:HGNC Symbol;Acc:HGNC:7459] |
| Ensembl ID | ENSG00000198886 |
| Bio databases IDs | |
| Aliases | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4, complex I ND4 subunit, NADH-ubiquinone oxidoreductase chain 4 |
| Synonyms | NADH dehydrogenase subunit 4, Nadh ubiquinone oxidoreductase chain 4, ND4 |
| 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-ND4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- proton-translocating NADH-quinone oxidoreductase, chain M
- NADH-ubiquinone oxidoreductase chain 4, amino terminus
- Proton-conducting membrane transporter
- enzyme
- NADH2 dehydrogenase (ubiquinone)
Pathways
Biological processes and signaling networks where the MT-ND4 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
- glioma cancer
- mitochondrial disorder
- Huntington disease
- adenoma formation
- precursor B-cell acute lymphoblastic leukemia
- thyroid carcinoma
- epithelial thyroid cancer
- susceptibility to Leber optic atrophy
- breast carcinoma
- Leigh syndrome
role in cell
- apoptosis
- binding in
- activation
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 inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MT-ND4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to ethanol
- response to hypoxia
- electron transport coupled proton transport
- mitochondrial electron transport, NADH to ubiquinone
- in utero embryonic development
- cerebellum development
- response to nicotine
- 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 inner membrane
Molecular Function
What the gene product does at the molecular level
- NADH dehydrogenase activity
- NADH dehydrogenase (ubiquinone) activity
- ubiquinone binding