PARL Gene Summary [Human]
This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]
Details
| Type | Protein Coding |
| Official Symbol | PARL |
| Official Name | presenilin associated rhomboid like [Source:HGNC Symbol;Acc:HGNC:18253] |
| Ensembl ID | ENSG00000175193 |
| Bio databases IDs | |
| Aliases | presenilin associated rhomboid like, rhomboid 7 homolog 1 (Drosophila) |
| Synonyms | D16Ertd607e, presenilin associated rhomboid like, presenilin associated, rhomboid-like, PRESENILINS ASSOCIATED RHOMBOID-LIKE, PRO2207, PSARL, PSARL1, PSENIP2, RHBDS1 |
| 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 PARL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- endopeptidase
- serine endopeptidase
- peptidase
- protein binding
- Rhomboid family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- kyphosis
- paresis
- bleeding
- encephalopathy
- growth failure
- Leigh-like encephalopathy
- neurological disorder
- neurodegeneration
- Parkinson disease
- Leigh syndrome
regulated by
- TYA-018
- BAG3
role in cell
- expression in
- apoptosis
- degeneration
- morphology
- quantity
- number
- degradation in
- fusion
- production
- function
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 PARL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of release of cytochrome c from mitochondria
- mitochondrial fusion
- regulation of proteolysis
- proteolysis
- membrane protein proteolysis
- regulation of reactive oxygen species metabolic process
- signal peptide processing
- protein processing
- regulation of mitochondrion organization
- negative regulation of intrinsic apoptotic signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- serine-type endopeptidase activity
- endopeptidase activity