NDUFAF7 Gene Summary [Human]
This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | NDUFAF7 |
| Official Name | NADH:ubiquinone oxidoreductase complex assembly factor 7 [Source:HGNC Symbol;Acc:HGNC:28816] |
| Ensembl ID | ENSG00000003509 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase complex assembly factor 7, mitochondrial dysfunction protein A homolog |
| Synonyms | 2410091C18Rik, C2orf56, MidA, NADH:ubiquinone oxidoreductase complex assembly factor 7, PRO1853, RGD1311578 |
| 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 NDUFAF7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme binding
- enzyme
- protein binding
- Putative S-adenosyl-L-methionine-dependent methyltransferase
- protein-arginine N-methyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- ulcerative colitis
- Huntington disease
- inflammatory bowel disease
- gastroesophageal reflux
- chronic lymphocytic leukemia
regulates
- Mitochondrial ETC 1
- NDUFS2
role in cell
- dimethylation 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 matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFAF7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- peptidyl-arginine methylation, to symmetrical-dimethyl arginine
- mitochondrial respiratory chain complex I assembly
Cellular Component
Where in the cell the gene product is active
- extracellular space
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein-arginine omega-N symmetric methyltransferase activity
- protein binding
- methyltransferase activity
- enzyme binding