PSARL

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]

Full Name

presenilin associated, rhomboid-like

Function

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 (By similarity).
Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP) (PubMed:22354088).
Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain (PubMed:14732705, PubMed:17116872).

Biological Process

Membrane protein proteolysisManual Assertion Based On ExperimentIDA:UniProtKB
Mitochondrial fusionIEA:Ensembl
Negative regulation of intrinsic apoptotic signaling pathwayIEA:Ensembl
Negative regulation of release of cytochrome c from mitochondriaIEA:Ensembl
ProteolysisManual Assertion Based On ExperimentIMP:ParkinsonsUK-UCL
Regulation of autophagy of mitochondrionIEA:Ensembl
Regulation of mitochondrion organizationManual Assertion Based On ExperimentIMP:ParkinsonsUK-UCL
Regulation of protein targeting to mitochondrionManual Assertion Based On ExperimentIGI:ParkinsonsUK-UCL
Regulation of proteolysisManual Assertion Based On ExperimentIGI:ParkinsonsUK-UCL
Regulation of reactive oxygen species metabolic processManual Assertion Based On ExperimentIMP:ParkinsonsUK-UCL
Signal peptide processingManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Mitochondrion inner membrane
P-beta
Nucleus
Translocated into the nucleus by an unknown mechanism (PubMed:17116872).

Topology

Mitochondrial matrix: 53-101
Helical: 102-121
Mitochondrial intermembrane: 122-167
Helical: 168-187
Mitochondrial matrix: 188-207
Helical: 208-230
Mitochondrial intermembrane: 231-244
Helical: 245-262
Mitochondrial matrix: 263-272
Helical: 273-289
Mitochondrial intermembrane: 290-295
Helical: 296-318
Mitochondrial matrix: 319-332
Helical: 333-354
Mitochondrial intermembrane: 355-379

PTM

P-beta is proteolytically processed (beta-cleavage) in a PARL-dependent manner. The cleavage is inhibited when residues Ser-65, Thr-69 and Ser-70 are all phosphorylated.