TIMMDC1 Gene Summary [Human]
Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | TIMMDC1 |
| Official Name | translocase of inner mitochondrial membrane domain containing 1 [Source:HGNC Symbol;Acc:HGNC:1321] |
| Ensembl ID | ENSG00000113845 |
| Bio databases IDs | |
| Aliases | translocase of inner mitochondrial membrane domain containing 1 |
| Synonyms | 2810021C21Rik, 4930455C21Rik, C3orf1, LOC100360223, MC1DN31, RGD1359380, translocase of inner mitochondrial membrane domain containing 1 |
| 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 TIMMDC1 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 binding
- Tim17/Tim22/Tim23/Pmp24 family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- multiple sclerosis
- primary biliary cirrhosis
- systemic lupus erythematosus
- polyarticular juvenile rheumatoid arthritis
- nuclear type 31 mitochondrial complex I deficiency
- juvenile rheumatoid arthritis
- hypothyroidism
- Leigh syndrome
- Sengers syndrome
- nuclear type 1 mitochondrial complex I deficiency
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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TIMMDC1 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding