PARL

From Wikipedia, the free encyclopedia

Presenilin associated, rhomboid-like

Identifiers

PARL; PSARL; PSARL1; PSENIP2; RHBDS1

External IDs

OMIM: 607858 MGI: 1277152 HomoloGene: 10239 GeneCards: PARL Gene

Gene Ontology
Molecular function	• serine-type endopeptidase activity
Cellular component	• nucleus • mitochondrion • mitochondrial inner membrane • integral to membrane
Biological process	• proteolysis • negative regulation of release of cytochrome c from mitochondria • negative regulation of intrinsic apoptotic signaling pathway
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

ENSG00000175193

ENSMUSG00000033918

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 3:
183.55 – 183.6 Mb

Chr 16:
20.28 – 20.3 Mb

PubMed search

See also: Prince Albert Radar Laboratory

Presenilins-associated rhomboid-like protein, mitochondrial is a protein that in humans is encoded by the PARL gene.^[1] It is a member of the rhomboid family of intramembrane serine proteases.^[2]

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.^[1]

References

↑ 1.0 1.1 "Entrez Gene: PARL presenilin associated, rhomboid-like".
↑ G. A. McQuibban, S. Saurya, M. Freeman, Nature 423, 537 (2003)

Further reading

Jeyaraju DV, Xu L, Letellier MC, et al. (2007). "Phosphorylation and cleavage of presenilin-associated rhomboid-like protein (PARL) promotes changes in mitochondrial morphology.". Proc. Natl. Acad. Sci. U.S.A. 103 (49): 18562–7. doi:10.1073/pnas.0604983103. PMC 1693702. PMID 17116872.
Fawcett KA, Wareham NJ, Luan J, et al. (2007). "PARL Leu262Val is not associated with fasting insulin levels in UK populations.". Diabetologia 49 (11): 2649–52. doi:10.1007/s00125-006-0443-9. PMC 2672784. PMID 17019603.
Walder K, Kerr-Bayles L, Civitarese A, et al. (2005). "The mitochondrial rhomboid protease PSARL is a new candidate gene for type 2 diabetes.". Diabetologia 48 (3): 459–68. doi:10.1007/s00125-005-1675-9. PMID 15729572.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Sík A, Passer BJ, Koonin EV, Pellegrini L (2004). "Self-regulated cleavage of the mitochondrial intramembrane-cleaving protease PARL yields Pbeta, a nuclear-targeted peptide.". J. Biol. Chem. 279 (15): 15323–9. doi:10.1074/jbc.M313756200. PMID 14732705.
McQuibban GA, Saurya S, Freeman M (2003). "Mitochondrial membrane remodelling regulated by a conserved rhomboid protease.". Nature 423 (6939): 537–41. doi:10.1038/nature01633. PMID 12774122.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Pellegrini L, Passer BJ, Canelles M, et al. (2001). "PAMP and PARL, two novel putative metalloproteases interacting with the COOH-terminus of Presenilin-1 and -2.". J. Alzheimers Dis. 3 (2): 181–190. PMID 12214059.

This article is issued from Wikipedia. The text is available under the Creative Commons Attribution/Share Alike; additional terms may apply for the media files.