NDUFAF5 Gene Summary [Human]
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | NDUFAF5 |
| Official Name | NADH:ubiquinone oxidoreductase complex assembly factor 5 [Source:HGNC Symbol;Acc:HGNC:15899] |
| Ensembl ID | ENSG00000101247 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase complex assembly factor 5 |
| Synonyms | 2310003L22Rik, bA526K24.2, C20orf7, dJ842G6.1, MC1DN16, NADH:ubiquinone oxidoreductase complex assembly factor 5, RGD1309829 |
| 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 NDUFAF5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- monooxygenase
- AdoMet_MTases
- protein binding
- ubiE/COQ5 methyltransferase family
- malonyl-acyl carrier protein O-methyltransferase BioC
- methyltransferase domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- Mitochondrial ETC 1
- NDUFS7
disease
- mitochondrial disorder
- nuclear type 16 mitochondrial complex I deficiency
- Lebers optic atrophy plus syndrome
- Mitochondrial complex I deficiency
- hereditary disorder
- Leigh syndrome
- Huntington disease
- endometriosis
- insulin resistance
phenotypes
- Isolated complex I deficiency
- Leigh syndrome with leukodystrophy
- MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 16
role in cell
- hydroxylation 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
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFAF5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial respiratory chain complex I assembly
- peptidyl-arginine hydroxylation
- methylation
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- oxidoreductase activity
- S-adenosylmethionine-dependent methyltransferase activity