PMPCA Gene Summary [Human]
The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]
Details
| Type | Retained Intron |
| Official Symbol | PMPCA |
| Official Name | peptidase, mitochondrial processing subunit alpha [Source:HGNC Symbol;Acc:HGNC:18667] |
| Ensembl ID | ENSG00000165688 |
| Bio databases IDs | |
| Aliases | peptidase, mitochondrial processing subunit alpha |
| Synonyms | 1200002L24Rik, 4933435E07RIK, Alpha-MPP, CLA1, CPD3, INPP5E, KIAA0123, MAS2, MITOCHONDRIAL PROCESSING PEPTIDASE A, MITOCHONDRIAL PROCESSING PROTEASE, MPPA, P-55, peptidase (mitochondrial processing) alpha, peptidase, mitochondrial processing subunit alpha, peptidase, mitochondrial processing subunit α, peptidase (mitochondrial processing) α, SCAR2, α-MPP |
| 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 PMPCA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- metallopeptidase
- endopeptidase
- peptidase
- mitochondrial processing peptidase
- protein binding
- Insulinase (Peptidase family M16)
- Peptidase M16 inactive domain
Pathways
Biological processes and signaling networks where the PMPCA 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.
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
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PMPCA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein processing involved in protein targeting to mitochondrion
Cellular Component
Where in the cell the gene product is active
- extracellular space
- mitochondrion
- mitochondrial processing peptidase complex
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- metalloendopeptidase activity