LPIN1
Lipin-1 is a protein that in humans is encoded by the LPIN1 gene.[1][2][3][4]
Function
Lipin-1 has phosphatidate phosphatase activity.[5][6][7]
Clinical significance
This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. Mouse studies suggest that this gene functions during normal adipose tissue development and may also play a role in human triglyceride metabolism.[4]
References
- ↑ Peterfy M, Phan J, Xu P, Reue K (Jan 2001). "Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin". Nat Genet 27 (1): 121–4. doi:10.1038/83685. PMID 11138012.
- ↑ Nagase T, Seki N, Ishikawa K, Tanaka A, Nomura N (Nov 1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res 3 (1): 17–24. doi:10.1093/dnares/3.1.17. PMID 8724849.
- ↑ Finck BN, Gropler MC, Chen Z, Leone TC, Croce MA, Harris TE, Lawrence JC Jr, Kelly DP (Sep 2006). "Lipin 1 is an inducible amplifier of the hepatic PGC-1alpha/PPARalpha regulatory pathway". Cell Metab 4 (3): 199–210. doi:10.1016/j.cmet.2006.08.005. PMID 16950137.
- 1 2 "Entrez Gene: LPIN1 lipin 1".
- ↑ Han GS, Wu WI, Carman GM (April 2006). "The Saccharomyces cerevisiae Lipin homolog is a Mg2+-dependent phosphatidate phosphatase enzyme". J. Biol. Chem. 281 (14): 9210–8. doi:10.1074/jbc.M600425200. PMC 1424669. PMID 16467296.
- ↑ Donkor J, Sariahmetoglu M, Dewald J, Brindley DN, Reue K (February 2007). "Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns". J. Biol. Chem. 282 (6): 3450–7. doi:10.1074/jbc.M610745200. PMID 17158099.
- ↑ Harris TE, Huffman TA, Chi A, Shabanowitz J, Hunt DF, Kumar A, Lawrence JC Jr. (January 2007). "Insulin controls subcellular localization and multisite phosphorylation of the phosphatidic acid phosphatase, lipin 1". J. Biol. Chem. 282 (1): 277–86. doi:10.1074/jbc.M609537200. PMID 17105729.
Further reading
- Péterfy M, Phan J, Oswell GM, et al. (2000). "Genetic, physical, and transcript map of the fld region on mouse chromosome 12". Genomics 62 (3): 436–44. doi:10.1006/geno.1999.6023. PMID 10644441.
- Reue K, Xu P, Wang XP, Slavin BG (2000). "Adipose tissue deficiency, glucose intolerance, and increased atherosclerosis result from mutation in the mouse fatty liver dystrophy (fld) gene". J. Lipid Res. 41 (7): 1067–76. PMID 10884287.
- Huffman TA, Mothe-Satney I, Lawrence JC (2002). "Insulin-stimulated phosphorylation of lipin mediated by the mammalian target of rapamycin". Proc. Natl. Acad. Sci. U.S.A. 99 (2): 1047–52. doi:10.1073/pnas.022634399. PMC 117427. PMID 11792863.
- Cao H, Hegele RA (2003). "Identification of single-nucleotide polymorphisms in the human LPIN1 gene". J. Hum. Genet. 47 (7): 370–2. doi:10.1007/s100380200052. PMID 12111372.
- 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.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- 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.
- Suviolahti E, Reue K, Cantor RM, et al. (2006). "Cross-species analyses implicate Lipin 1 involvement in human glucose metabolism". Hum. Mol. Genet. 15 (3): 377–86. doi:10.1093/hmg/ddi448. PMID 16357106.
- Yao-Borengasser A, Rasouli N, Varma V, et al. (2006). "Lipin expression is attenuated in adipose tissue of insulin-resistant human subjects and increases with peroxisome proliferator-activated receptor gamma activation". Diabetes 55 (10): 2811–8. doi:10.2337/db05-1688. PMID 17003347.
- van Harmelen V, Rydén M, Sjölin E, Hoffstedt J (2007). "A role of lipin in human obesity and insulin resistance: relation to adipocyte glucose transport and GLUT4 expression". J. Lipid Res. 48 (1): 201–6. doi:10.1194/jlr.M600272-JLR200. PMID 17035674.
- Harris TE, Huffman TA, Chi A, et al. (2007). "Insulin controls subcellular localization and multisite phosphorylation of the phosphatidic acid phosphatase, lipin 1". J. Biol. Chem. 282 (1): 277–86. doi:10.1074/jbc.M609537200. PMID 17105729.
- Croce MA, Eagon JC, LaRiviere LL, et al. (2007). "Hepatic lipin 1beta expression is diminished in insulin-resistant obese subjects and is reactivated by marked weight loss". Diabetes 56 (9): 2395–9. doi:10.2337/db07-0480. PMID 17563064.
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