TIMM50 Gene Summary [Human]
This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | TIMM50 |
| Official Name | translocase of inner mitochondrial membrane 50 [Source:HGNC Symbol;Acc:HGNC:23656] |
| Ensembl ID | ENSG00000105197 |
| Bio databases IDs | |
| Aliases | translocase of inner mitochondrial membrane 50 |
| Synonyms | 2810403L02RIK, AU015082, LOC687295, MGCA9, TIM50, TIM50L, translocase of inner mitochondrial membrane 50 |
| 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 TIMM50 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- interleukin-2 receptor binding
- protein-tyrosine-phoshatase
- protein serine/threonine phosphatase
- protein phosphatase
- ribonucleoprotein binding
- phosphatase
- protein binding
- enzyme regulator activity
- protease activator
- Haloacid Dehalogenase-like Hydrolases
Pathways
Biological processes and signaling networks where the TIMM50 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic lymphocytic leukemia
- 3-methylglutaconic aciduria type 9
- mitochondrial encephalopathy
- hereditary disorder
- limited systemic sclerosis
- mitochondrial disorder
- Huntington disease
- diffuse cutaneous systemic sclerosis
role in cell
- cell death
- expression in
- binding in
- organization
- conversion 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
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- mitochondrial inner membrane
- nucleoplasm
- nuclear speckles
- mitoplasts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TIMM50 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein import into mitochondrial matrix
- protein dephosphorylation
- release of cytochrome c from mitochondria
- intracellular protein transport
- mitochondrial membrane organization
Cellular Component
Where in the cell the gene product is active
- mitochondrial inner membrane presequence translocase complex
- nuclear speck
- mitochondrion
- Golgi apparatus
- endoplasmic reticulum
- mitochondrial inner membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein serine/threonine phosphatase activity
- phosphoprotein phosphatase activity
- RNA binding
- protein binding
- protein tyrosine phosphatase activity
- ribonucleoprotein complex binding
- interleukin-2 receptor binding