NDUFAF3 Gene Summary [Human]
This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]
Details
| Type | Protein Coding |
| Official Symbol | NDUFAF3 |
| Official Name | NADH:ubiquinone oxidoreductase complex assembly factor 3 [Source:HGNC Symbol;Acc:HGNC:29918] |
| Ensembl ID | ENSG00000178057 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase complex assembly factor 3 |
| Synonyms | 2P1, 4733401H18Rik, C3orf60, E3-3, MC1DN18, NADH:ubiquinone oxidoreductase complex assembly factor 3, RGD708545 |
| 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 NDUFAF3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Protein of unknown function (DUF498/DUF598)
- Mth938-like
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- breast cancer
- nuclear type 18 mitochondrial complex I deficiency
- hereditary disorder
- nuclear type 1 mitochondrial complex I deficiency
- mitochondrial disorder
- infection by HIV-1
role in cell
- signaling in
- proliferation
- expression in
- migration
- tumorigenicity
- fragmentation
- splicing in
- fragmentation in
- tubulation in
- tubulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Mitochondria
- mitochondrial inner membrane
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFAF3 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
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding