PARL

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Presenilin associated, rhomboid-like
Identifiers
Symbol(s) PARL; PRO2207; PSARL; PSARL1; PSENIP2; RHBDS1
External IDs OMIM: 607858 MGI: 1277152 HomoloGene: 10239
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 55486 381038
Ensembl ENSG00000175193 ENSMUSG00000033918
Uniprot Q9H300 Q5XJY4
Refseq NM_001037639 (mRNA)
NP_001032728 (protein)		 NM_001005767 (mRNA)
NP_001005767 (protein)
Location Chr 3: 185.03 - 185.09 Mb Chr 16: 20.19 - 20.22 Mb
Pubmed search [1] [2]

Presenilin associated, rhomboid-like, also known as PARL, is a human gene.[1]

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]

[edit] References

  1. ^ a b Entrez Gene: PARL presenilin associated, rhomboid-like.

[edit] 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. 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. 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. 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. PMID 12477932. 
  • Pellegrini L, Passer BJ, Canelles M, et al.. "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. 
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