MPC1 Gene Summary [Human]
The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
Details
| Type | Protein Coding |
| Official Symbol | MPC1 |
| Official Name | mitochondrial pyruvate carrier 1 [Source:HGNC Symbol;Acc:HGNC:21606] |
| Ensembl ID | ENSG00000060762 |
| Bio databases IDs | |
| Aliases | mitochondrial pyruvate carrier 1 |
| Synonyms | 0610006G08Rik, 3830411I18Rik, BRP44L, CGI-129, HSPC040, LOC100503245, LOC108167375, mitochondrial pyruvate carrier 1, MPYCD, SLC54A1 |
| 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 MPC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Mitochondrial pyruvate carriers
- protein binding
- monocarboxylic acid transporter
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- azoxymethane/dextran sodium sulfate induced colorectal cancer
- liver cirrhosis
- Alzheimer disease
- Crohn disease
- obesity
- gastric cancer
- polycystic ovary syndrome
- Huntington disease
- seizures
- organismal death
role in cell
- expression in
- number
- migration
- quantity
- size
- mitochondrial respiration
- invasion by
- incorporation in
- calcium homeostasis in
- consumption 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 inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MPC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial pyruvate transport
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- pyruvate transmembrane transporter activity