NFU1 Gene Summary [Human]
This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | NFU1 |
| Official Name | NFU1 iron-sulfur cluster scaffold [Source:HGNC Symbol;Acc:HGNC:16287] |
| Ensembl ID | ENSG00000169599 |
| Bio databases IDs | |
| Aliases | NFU1 iron-sulfur cluster scaffold |
| Synonyms | 0610006G17Rik, CGI-33, HIRIP, HIRIP5, MMDFS, MMDS1, Nfu, NFU1 iron-sulfur cluster scaffold, NFU1 iron-sulphur cluster scaffold, NifU, NIFUC, SPG93 |
| 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 NFU1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Scaffold protein Nfu/NifU N terminal
- binding protein
- iron ion binding
- protein binding
- NifU-like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- spondylolisthesis
- multiple mitochondrial dysfunctions syndrome type 1
- Spastic paraplegia 93, autosomal recessive
- metabolic syndrome X
- mitochondrial disorder
- spinal stenosis
- post-operative acute kidney injury
role in cell
- proliferation
- expression in
- activation in
- apoptosis
- production in
- glycolysis in
- generation in
- mitochondrial respiration in
- oxidation 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
- Nucleus
- Mitochondria
- cytosol
- mitochondrial matrix
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NFU1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- iron-sulfur cluster assembly
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- iron ion binding
- 4 iron, 4 sulfur cluster binding