| UniProt Protein Function: | PSARL: a mitochondrial intramembrane protease that is associated with insulin resistance and type 2 diabetes. Induced in humans by caloric restriction. Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptotic signals. Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain. Induced in humans by caloric restriction. Interacts with PSEN1 and PSEN2. Binds OPA1. Two isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Apoptosis; Membrane protein, integral; Protease; EC 3.4.21.105; Membrane protein, multi-pass; Mitochondrial Chromosomal Location of Human Ortholog: 3q27.1 Cellular Component: mitochondrion; mitochondrial inner membrane; integral to membrane; nucleus Molecular Function:protein binding; serine-type endopeptidase activity; endopeptidase activity Biological Process: membrane protein proteolysis; proteolysis |
| NCBI Summary: | This gene encodes a mitochondrial integral membrane protein. Following proteolytic processing of this protein, a small peptide (P-beta) is formed and translocated to the nucleus. This gene may be involved in signal transduction via regulated intramembrane proteolysis of membrane-tethered precursor proteins. Variation in this gene has been associated with increased risk for type 2 diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q9H300 |
| NCBI GenInfo Identifier: | 143811433 |
| NCBI Gene ID: | 55486 |
| NCBI Accession: | Q9H300.2 |
| UniProt Secondary Accession: | Q9H300,Q96CQ4, Q9BTJ6, Q9P1E3, |
| UniProt Related Accession: | Q9H300 |
| Molecular Weight: | 36,589 Da |
| NCBI Full Name: | Presenilins-associated rhomboid-like protein, mitochondrial |
| NCBI Synonym Full Names: | presenilin associated, rhomboid-like |
| NCBI Official Symbol: | PARL |
| NCBI Official Synonym Symbols: | PSARL; PSARL1; RHBDS1; PRO2207; PSENIP2 |
| NCBI Protein Information: | presenilins-associated rhomboid-like protein, mitochondrial; rhomboid 7 homolog 1; mitochondrial intramembrane cleaving protease PARL; mitochondrial intramembrane-cleaving protease PARL |
| UniProt Protein Name: | Presenilins-associated rhomboid-like protein, mitochondrial |
| UniProt Synonym Protein Names: | Mitochondrial intramembrane cleaving protease PARLP-beta; Pbeta |
| Protein Family: | Presenilins-associated rhomboid-like protein |
| UniProt Gene Name: | PARL |
| UniProt Entry Name: | PARL_HUMAN |
