NDUFA9 Gene Summary [Human]
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]
Details
| Type | Retained Intron |
| Official Symbol | NDUFA9 |
| Official Name | NADH:ubiquinone oxidoreductase subunit A9 [Source:HGNC Symbol;Acc:HGNC:7693] |
| Ensembl ID | ENSG00000139180 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase subunit A9, short chain dehydrogenase/reductase family 22E, member 1, complex I 39kDa subunit |
| Synonyms | 1010001N11Rik, 39 Kda, ci, CC6, CI-39k, Complex I-39KD, COQ11, MC1DN26, Nadh-ubiquinone oxidoreductase 39-kda subunit, NADH:ubiquinone oxidoreductase subunit A9, NADH UBIQUINONE OXYDOREDUCTASE, ND39, NDUFS2L, SDR22E1 |
| 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 NDUFA9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- 3-beta hydroxysteroid dehydrogenase/isomerase family
- binding protein
- NAD dependent epimerase/dehydratase family
- NADH2 dehydrogenase
- enzyme
- protein binding
- NmrA-like family
Pathways
Biological processes and signaling networks where the NDUFA9 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
- insulin resistance
- nuclear type 26 mitochondrial complex I deficiency
- hereditary disorder
- chromophobe renal cell carcinoma
- chromophobe renal cancer
- Leigh syndrome
- adult acute myeloid leukemia
regulates
- Mitochondrial ETC 1
role in cell
- assembly 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
- pH resistant lipid raft fraction
- Mitochondria
- mitochondrial membrane
- mitochondrial matrix
- mitochondrial nucleoids
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFA9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sodium ion transport
- transmembrane transport
- mitochondrial electron transport, NADH to ubiquinone
- mitochondrial respiratory chain complex I assembly
- aerobic respiration
- circadian rhythm
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- nucleus
- respiratory chain complex I
- mitochondrial membrane
- mitochondrial matrix
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- NADH dehydrogenase activity
- NADH dehydrogenase (ubiquinone) activity