PARL

Presenilin associated, rhomboid-like
Identifiers
Symbols	PARL; PSARL; PSARL1; PSENIP2; RHBDS1
External IDs	OMIM: 607858 MGI: 1277152 HomoloGene: 10239 GeneCards: PARL Gene
EC number	3.4.21.105
Gene Ontology Molecular function • serine-type endopeptidase activity • peptidase activity Cellular component • nucleus • mitochondrion • mitochondrial inner membrane • membrane • integral to membrane Biological process • proteolysis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	55486	381038
Ensembl	ENSG00000175193	ENSMUSG00000033918
UniProt	Q9H300	Q5XJY4
RefSeq (mRNA)	NM_001037639.1	NM_001005767.4
RefSeq (protein)	NP_001032728.1	NP_001005767.1
Location (UCSC)	Chr 3: 183.55 – 183.6 Mb	Chr 16: 20.28 – 20.3 Mb
PubMed search	[1]	[2]

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. ^ ^{a b} "Entrez Gene: PARL presenilin associated, rhomboid-like". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55486. 
2. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1693702. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2672784. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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.