NDUFA4 Gene Summary [Human]
The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. 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. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NDUFA4 |
| Official Name | NDUFA4 mitochondrial complex associated [Source:HGNC Symbol;Acc:HGNC:7687] |
| Ensembl ID | ENSG00000189043 |
| Bio databases IDs | |
| Aliases | NDUFA4 mitochondrial complex associated, complex I 9kDa subunit, NADH-ubiquinone oxidoreductase MLRQ subunit, cytochrome c oxidase subunit FA4, mitochondrial respiratory chain associated factor 1, mitochondrial stress response 1 |
| Synonyms | CI-9k, CI-MLRQ, Complex I-MLRQ, COXFA4, LOC679503, LOC681024, MC4DN21, MISTR1, MLRQ, MRCAF1, Nadh dehydrogenase (ubiquinone) 1 alpha subcomplex 4, Nadh dehydrogenase (ubiquinone) 1 α subcomplex 4, NDUA4, NDUFA4 mitochondrial complex associated, Ndufa4, mitochondrial complex associated |
| 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 NDUFA4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- NADH2 dehydrogenase
- enzyme
- protein binding
- NADH2 dehydrogenase (ubiquinone)
- NADH-ubiquinone reductase complex 1 MLRQ subunit
Pathways
Biological processes and signaling networks where the NDUFA4 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
- gastric cancer
- neoplasia
- septic shock
- Leigh syndrome
- insulin resistance
- metabolic syndrome X
- Huntington disease
- organismal death
- adult acute myeloid leukemia
- nuclear type 21 mitochondrial complex IV deficiency
role in cell
- expression in
- transmembrane potential
- proliferation
- production in
- mitochondrial respiration in
- glycolysis in
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
- cellular membrane
- Mitochondria
- mitochondrial membrane
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFA4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- mitochondrial electron transport, NADH to ubiquinone
- mitochondrial electron transport, cytochrome c to oxygen
- cellular respiration
Cellular Component
Where in the cell the gene product is active
- respiratory chain complex I
- mitochondrial membrane
- mitochondrion
- mitochondrial respiratory chain complex IV
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- NADH dehydrogenase (ubiquinone) activity