Human mRNA (Human) hormone sensitive lipase HSL
In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production. (from OMIM) Albert et al. (2014) sequenced 12 lipolytic-pathway genes in 24 Old Order Amish individuals whose fasting serum triglyceride levels were at the extremes of the distribution, and detected a 19-bp deletion in the LIPE gene in an individual whose triglyceride level was at the upper extreme. Genotyping for the LIPE deletion in 2,738 participants in the Amish Complex Disease Research Program identified 1 individual who was homozygous for the deletion ('DD' genotype) and 140 heterozygotes. Homozygous individuals exhibited impaired lipolysis and showed evidence for redistribution of body fat as well as altered metabolic traits, including systemic insulin resistance and diabetes. Carriers of the deletion had an increased risk of metabolic dysfunction. In an Italian sister and brother from a consanguineous family with a late-onset form of partial lipodystrophy, originally reported by Carboni et al. (2014), Farhan et al. (2014) performed genomewide autozygosity mapping and whole-exome sequencing, and identified a frameshift mutation in the LIPE gene that segregated with disease in the family. Sollier et al. (2021) describe four novel mutations in three patients and model the disease using stem cells
MDLRTMTQSL VTLAEDNIAF FSSQGPGETA QRLSGVFAGV REQALGLEPA LGLLGVAHLF DLDPETPANG YRSLVHTARC CLAHLLHKSR YVASNRRSIF FCTSHNLAEL EAYLAALTQL RALVYYAQRL LVTNRPGVLF FEGDEGLTAD FLREYVTLHK GCFYGRCLGF QFTPAIRPFL QTISIGLVSF GEHYKRNETG LSVAASSLFT SGRFAIDPEL RGAEFERITQ NLDVHFWKAF WNITEMEVLS SLANMASATV RVSRLLSLPP EAFEMPLTAD PTLTVTISPP LAHTGPGPVL VRLISYDLRE GQDSEELSSL IKSNGQRSLE LWPAPQQAPR SRPLIVHFHG GGFVAQTSRS HEPYLKSWAQ ELGAPIISID YSLAPEAPFP RALEECFFAY CWAIKHCALL GSTGERICLA GDSAGGNLCF TVALRAAAYG VRVPDGIMAA YPATMLQPAA SPSRLLSLMD PLLPLSVLSK CVSAYAGAKT EDHSNSDQKA LGMMGLVRRD TALLLRDFRL GASSWLNSFL ELSGRKSQKM SEPIAEPMRR SVSEAALAQP QGPLGTDSLK NLTLRDLSLR GNSETSSDTP EMSLSAETLS PSTPSDVNFL LPPEDAGEEA EAKNELSPMD RGLGVRAAFP EGFHPRRSSQ GATQMPLYSS PIVKNPFMSP LLAPDSMLKS LPPVHIVACA LDPMLDDSVM LARRLRNLGQ PVTLRLVEDL PHGFLTLAAL CRDGPGRRAV RGAHPPRPHS SRRSRAERGD GGCGGRRGLR GATLKACCSH LRRPPS
| Title : LIPE-related lipodystrophic syndrome: clinical characteristics and disease modelling using adipose stem cells - Sollier_2020_Eur.J.Endocrinol_184_155 |
| Author(s) : Sollier C , Capel E , Aguilhon C , Smirnov V , Auclair M , Douillard C , Ladsous M , Defoort-Dhellemmes S , Gorwood J , Braud L , Motterlini R , Vatier C , Lascols O , Renard E , Vigouroux C , Jeru I |
| Ref : European Journal of Endocrinology , 184 :155 , 2021 |
| Abstract : Sollier_2020_Eur.J.Endocrinol_184_155 |
| ESTHER : Sollier_2020_Eur.J.Endocrinol_184_155 |
| PubMedSearch : Sollier_2020_Eur.J.Endocrinol_184_155 |
| PubMedID: 33112291 |
| Gene_locus related to this paper: human-LIPE |
| Title : A Missense Variant Arg611Cys in LIPE which Encodes Hormone Sensitive Lipase Decreases Lipolysis and Increases Risk of Type 2 Diabetes in American Indians - Muller_2021_Diabetes.Metab.Res.Rev__e3504 |
| Author(s) : Muller YL , Sutherland J , Nair AK , Koroglu C , Kobes S , Knowler WC , Van Hout CV , Shuldiner AR , Hanson RL , Bogardus C , Baier LJ |
| Ref : Diabetes Metab Res Rev , :e3504 , 2021 |
| Abstract : Muller_2021_Diabetes.Metab.Res.Rev__e3504 |
| ESTHER : Muller_2021_Diabetes.Metab.Res.Rev__e3504 |
| PubMedSearch : Muller_2021_Diabetes.Metab.Res.Rev__e3504 |
| PubMedID: 34655148 |
| Gene_locus related to this paper: human-LIPE |
| Title : Hormone-sensitive lipase: sixty years later - Recazens_2020_Prog.Lipid.Res__101084 |
| Author(s) : Recazens E , Mouisel E , Langin D |
| Ref : Prog Lipid Res , :101084 , 2020 |
| Abstract : Recazens_2020_Prog.Lipid.Res__101084 |
| ESTHER : Recazens_2020_Prog.Lipid.Res__101084 |
| PubMedSearch : Recazens_2020_Prog.Lipid.Res__101084 |
| PubMedID: 33387571 |
| Gene_locus related to this paper: human-LIPE |
| Title : Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy - Zolotov_2017_Am.J.Med.Genet.A_173_190 |
| Author(s) : Zolotov S , Xing C , Mahamid R , Shalata A , Sheikh-Ahmad M , Garg A |
| Ref : American Journal of Medicine Genet A , 173 :190 , 2017 |
| Abstract : Zolotov_2017_Am.J.Med.Genet.A_173_190 |
| ESTHER : Zolotov_2017_Am.J.Med.Genet.A_173_190 |
| PubMedSearch : Zolotov_2017_Am.J.Med.Genet.A_173_190 |
| PubMedID: 27862896 |
| Gene_locus related to this paper: human-LIPE |
| Title : Design, synthesis, and pharmacological evaluation of a novel series of hormone sensitive lipase inhibitor - Ogiyama_2017_Bioorg.Med.Chem_25_4817 |
| Author(s) : Ogiyama T , Yamaguchi M , Kurikawa N , Honzumi S , Terayama K , Nagaoka N , Yamamoto Y , Kimura T , Sugiyama D , Inoue SI |
| Ref : Bioorganic & Medicinal Chemistry , 25 :4817 , 2017 |
| Abstract : Ogiyama_2017_Bioorg.Med.Chem_25_4817 |
| ESTHER : Ogiyama_2017_Bioorg.Med.Chem_25_4817 |
| PubMedSearch : Ogiyama_2017_Bioorg.Med.Chem_25_4817 |
| PubMedID: 28756012 |
| Gene_locus related to this paper: human-LIPE |
| Title : Hormone-sensitive lipase deficiency in humans - Zechner_2014_Cell.Metab_20_199 |
| Author(s) : Zechner R , Langin D |
| Ref : Cell Metab , 20 :199 , 2014 |
| Abstract : Zechner_2014_Cell.Metab_20_199 |
| ESTHER : Zechner_2014_Cell.Metab_20_199 |
| PubMedSearch : Zechner_2014_Cell.Metab_20_199 |
| PubMedID: 25100058 |
| Gene_locus related to this paper: human-LIPE |
| Title : Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes - Albert_2014_N.Engl.J.Med_370_2307 |
| Author(s) : Albert JS , Yerges-Armstrong LM , Horenstein RB , Pollin TI , Sreenivasan UT , Chai S , Blaner WS , Snitker S , O'Connell JR , Gong DW , Breyer RJ, 3rd , Ryan AS , McLenithan JC , Shuldiner AR , Sztalryd C , Damcott CM |
| Ref : N Engl J Med , 370 :2307 , 2014 |
| Abstract : Albert_2014_N.Engl.J.Med_370_2307 |
| ESTHER : Albert_2014_N.Engl.J.Med_370_2307 |
| PubMedSearch : Albert_2014_N.Engl.J.Med_370_2307 |
| PubMedID: 24848981 |
| Gene_locus related to this paper: human-LIPE |
| Title : Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin - |
| Author(s) : Carboni N , Brancati F , Cocco E , Solla E , D'Apice MR , Mateddu A , McIntyre A , Fadda E , Mura M , Lattanzi G , Piras R , Maioli MA , Marrosu G , Novelli G , Marrosu MG , Hegele RA |
| Ref : Muscle & Nerve , 49 :928 , 2014 |
| PubMedID: 24375490 |
| Gene_locus related to this paper: human-LIPE |
| Title : A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy - Farhan_2014_Can.J.Cardiol_30_1649 |
| Author(s) : Farhan SM , Robinson JF , McIntyre AD , Marrosu MG , Ticca AF , Loddo S , Carboni N , Brancati F , Hegele RA |
| Ref : Can J Cardiol , 30 :1649 , 2014 |
| Abstract : Farhan_2014_Can.J.Cardiol_30_1649 |
| ESTHER : Farhan_2014_Can.J.Cardiol_30_1649 |
| PubMedSearch : Farhan_2014_Can.J.Cardiol_30_1649 |
| PubMedID: 25475467 |
| Gene_locus related to this paper: human-LIPE |
| Title : Whole genome sequencing of Ethiopian highlanders reveals conserved hypoxia tolerance genes - Udpa_2014_Genome.Biol_15_R36 |
| Author(s) : Udpa N , Ronen R , Zhou D , Liang J , Stobdan T , Appenzeller O , Yin Y , Du Y , Guo L , Cao R , Wang Y , Jin X , Huang C , Jia W , Cao D , Guo G , Claydon VE , Hainsworth R , Gamboa JL , Zibenigus M , Zenebe G , Xue J , Liu S , Frazer KA , Li Y , Bafna V , Haddad GG |
| Ref : Genome Biol , 15 :R36 , 2014 |
| Abstract : Udpa_2014_Genome.Biol_15_R36 |
| ESTHER : Udpa_2014_Genome.Biol_15_R36 |
| PubMedSearch : Udpa_2014_Genome.Biol_15_R36 |
| PubMedID: 24555826 |
| Gene_locus related to this paper: human-LIPE |
| Title : The molecular mechanism of human hormone-sensitive lipase inhibition by substituted 3-phenyl-5-alkoxy-1,3,4-oxadiazol-2-ones - Ben Ali_2012_Biochimie_94_137 |
| Author(s) : Ben Ali Y , Verger R , Carriere F , Petry S , Muller G , Abousalham A |
| Ref : Biochimie , 94 :137 , 2012 |
| Abstract : Ben Ali_2012_Biochimie_94_137 |
| ESTHER : Ben Ali_2012_Biochimie_94_137 |
| PubMedSearch : Ben Ali_2012_Biochimie_94_137 |
| PubMedID: 22008857 |
| Gene_locus related to this paper: human-LIPE |
| Title : Enzyme Promiscuity in the Hormone-Sensitive Lipase Family of Proteins - Manco_2012_Protein.Pept.Lett_19_144 |
| Author(s) : Manco G , Merone L , Porzio E , Feng Y , Mandrich L |
| Ref : Protein Pept Lett , 19 :144 , 2012 |
| Abstract : Manco_2012_Protein.Pept.Lett_19_144 |
| ESTHER : Manco_2012_Protein.Pept.Lett_19_144 |
| PubMedSearch : Manco_2012_Protein.Pept.Lett_19_144 |
| PubMedID: 21933124 |
| Gene_locus related to this paper: human-LIPE |
| Title : Adipose triglyceride lipase contributes to cancer-associated cachexia - Das_2011_Science_333_233 |
| Author(s) : Das SK , Eder S , Schauer S , Diwoky C , Temmel H , Guertl B , Gorkiewicz G , Tamilarasan KP , Kumari P , Trauner M , Zimmermann R , Vesely P , Haemmerle G , Zechner R , Hoefler G |
| Ref : Science , 333 :233 , 2011 |
| Abstract : Das_2011_Science_333_233 |
| ESTHER : Das_2011_Science_333_233 |
| PubMedSearch : Das_2011_Science_333_233 |
| PubMedID: 21680814 |
| Gene_locus related to this paper: human-LIPE |
| Title : Abrogation of neutral cholesterol ester hydrolytic activity causes adrenal enlargement - Ohta_2011_Biochem.Biophys.Res.Commun_404_254 |
| Author(s) : Ohta K , Sekiya M , Uozaki H , Igarashi M , Takase S , Kumagai M , Takanashi M , Takeuchi Y , Izumida Y , Kubota M , Nishi M , Okazaki H , Iizuka Y , Yahagi N , Yagyu H , Fukayama M , Kadowaki T , Ohashi K , Ishibashi S , Osuga J |
| Ref : Biochemical & Biophysical Research Communications , 404 :254 , 2011 |
| Abstract : Ohta_2011_Biochem.Biophys.Res.Commun_404_254 |
| ESTHER : Ohta_2011_Biochem.Biophys.Res.Commun_404_254 |
| PubMedSearch : Ohta_2011_Biochem.Biophys.Res.Commun_404_254 |
| PubMedID: 21111707 |
| Gene_locus related to this paper: human-LIPE , human-NCEH1 |
| Title : Hormone-sensitive lipase (HSL) is also a retinyl ester hydrolase: evidence from mice lacking HSL - Strom_2009_FASEB.J_23_2307 |
| Author(s) : Strom K , Gundersen TE , Hansson O , Lucas S , Fernandez C , Blomhoff R , Holm C |
| Ref : FASEB Journal , 23 :2307 , 2009 |
| Abstract : Strom_2009_FASEB.J_23_2307 |
| ESTHER : Strom_2009_FASEB.J_23_2307 |
| PubMedSearch : Strom_2009_FASEB.J_23_2307 |
| PubMedID: 19246492 |
| Gene_locus related to this paper: human-LIPE |
| Title : Use of an inhibitor to identify members of the hormone-sensitive lipase family - Ben Ali_2006_Biochemistry_45_14183 |
| Author(s) : Ben Ali Y , Chahinian H , Petry S , Muller G , Lebrun R , Verger R , Carriere F , Mandrich L , Rossi M , Manco G , Sarda L , Abousalham A |
| Ref : Biochemistry , 45 :14183 , 2006 |
| Abstract : Ben Ali_2006_Biochemistry_45_14183 |
| ESTHER : Ben Ali_2006_Biochemistry_45_14183 |
| PubMedSearch : Ben Ali_2006_Biochemistry_45_14183 |
| PubMedID: 17115713 |
| Gene_locus related to this paper: human-LIPE |
| Title : Association and insulin regulated translocation of hormone-sensitive lipase with PTRF - Aboulaich_2006_Biochem.Biophys.Res.Commun_350_657 |
| Author(s) : Aboulaich N , Ortegren U , Vener AV , Stralfors P |
| Ref : Biochemical & Biophysical Research Communications , 350 :657 , 2006 |
| Abstract : Aboulaich_2006_Biochem.Biophys.Res.Commun_350_657 |
| ESTHER : Aboulaich_2006_Biochem.Biophys.Res.Commun_350_657 |
| PubMedSearch : Aboulaich_2006_Biochem.Biophys.Res.Commun_350_657 |
| PubMedID: 17026959 |
| Gene_locus related to this paper: human-LIPE |
| Title : Sensitive assay for hormone-sensitive lipase using NBD-labeled monoacylglycerol to detect low activities in rat adipocytes - Petry_2005_J.Lipid.Res_46_603 |
| Author(s) : Petry S , Ben Ali Y , Chahinian H , Jordan H , Kleine H , Muller G , Carriere F , Abousalham A |
| Ref : J Lipid Res , 46 :603 , 2005 |
| Abstract : Petry_2005_J.Lipid.Res_46_603 |
| ESTHER : Petry_2005_J.Lipid.Res_46_603 |
| PubMedSearch : Petry_2005_J.Lipid.Res_46_603 |
| PubMedID: 15627655 |
| Gene_locus related to this paper: human-LIPE |
| Title : Continuous monitoring of cholesterol oleate hydrolysis by hormone-sensitive lipase and other cholesterol esterases - Ben Ali_2005_J.Lipid.Res_46_994 |
| Author(s) : Ben Ali Y , Carriere F , Verger R , Petry S , Muller G , Abousalham A |
| Ref : J Lipid Res , 46 :994 , 2005 |
| Abstract : Ben Ali_2005_J.Lipid.Res_46_994 |
| ESTHER : Ben Ali_2005_J.Lipid.Res_46_994 |
| PubMedSearch : Ben Ali_2005_J.Lipid.Res_46_994 |
| PubMedID: 15716583 |
| Gene_locus related to this paper: human-LIPE |
| Title : Might the kinetic behavior of hormone-sensitive lipase reflect the absence of the lid domain? - Ben Ali_2004_Biochemistry_43_9298 |
| Author(s) : Ben Ali Y , Chahinian H , Petry S , Muller G , Carriere F , Verger R , Abousalham A |
| Ref : Biochemistry , 43 :9298 , 2004 |
| Abstract : Ben Ali_2004_Biochemistry_43_9298 |
| ESTHER : Ben Ali_2004_Biochemistry_43_9298 |
| PubMedSearch : Ben Ali_2004_Biochemistry_43_9298 |
| PubMedID: 15260473 |
| Gene_locus related to this paper: human-LIPE |
| Title : Hormone-sensitive lipase is required for high-density lipoprotein cholesteryl ester-supported adrenal steroidogenesis - Kraemer_2004_Mol.Endocrinol_18_549 |
| Author(s) : Kraemer FB , Shen WJ , Harada K , Patel S , Osuga J , Ishibashi S , Azhar S |
| Ref : Mol Endocrinol , 18 :549 , 2004 |
| Abstract : Kraemer_2004_Mol.Endocrinol_18_549 |
| ESTHER : Kraemer_2004_Mol.Endocrinol_18_549 |
| PubMedSearch : Kraemer_2004_Mol.Endocrinol_18_549 |
| PubMedID: 14657254 |
| Gene_locus related to this paper: human-LIPE |
| Title : Hormone-sensitive lipase--new roles for an old enzyme - Yeaman_2004_Biochem.J_379_11 |
| Author(s) : Yeaman SJ |
| Ref : Biochemical Journal , 379 :11 , 2004 |
| Abstract : Yeaman_2004_Biochem.J_379_11 |
| ESTHER : Yeaman_2004_Biochem.J_379_11 |
| PubMedSearch : Yeaman_2004_Biochem.J_379_11 |
| PubMedID: 14725507 |
| Gene_locus related to this paper: human-LIPE |
| Title : Identification of genetic variants in endothelial lipase in persons with elevated high-density lipoprotein cholesterol - deLemos_2002_Circulation_106_1321 |
| Author(s) : deLemos AS , Wolfe ML , Long CJ , Sivapackianathan R , Rader DJ |
| Ref : Circulation , 106 :1321 , 2002 |
| Abstract : deLemos_2002_Circulation_106_1321 |
| ESTHER : deLemos_2002_Circulation_106_1321 |
| PubMedSearch : deLemos_2002_Circulation_106_1321 |
| PubMedID: 12221047 |
| Gene_locus related to this paper: human-LIPE |
| Title : Hormone-sensitive lipase is not required for cholesteryl ester hydrolysis in macrophages - Contreras_2002_Biochem.Biophys.Res.Commun_292_900 |
| Author(s) : Contreras JA |
| Ref : Biochemical & Biophysical Research Communications , 292 :900 , 2002 |
| Abstract : Contreras_2002_Biochem.Biophys.Res.Commun_292_900 |
| ESTHER : Contreras_2002_Biochem.Biophys.Res.Commun_292_900 |
| PubMedSearch : Contreras_2002_Biochem.Biophys.Res.Commun_292_900 |
| PubMedID: 11944899 |
| Gene_locus related to this paper: human-LIPE |
| Title : Translocation of hormone-sensitive lipase and perilipin upon lipolytic stimulation during the lactation cycle of the rat - Clifford_2001_Metabolism_50_1264 |
| Author(s) : Clifford GM , Kraemer FB , Yeaman SJ , Vernon RG |
| Ref : Metabolism , 50 :1264 , 2001 |
| Abstract : Clifford_2001_Metabolism_50_1264 |
| ESTHER : Clifford_2001_Metabolism_50_1264 |
| PubMedSearch : Clifford_2001_Metabolism_50_1264 |
| PubMedID: 11699042 |
| Gene_locus related to this paper: human-LIPE |
| Title : Targeted disruption of hormone-sensitive lipase results in male sterility and adipocyte hypertrophy, but not in obesity - Osuga_2000_Proc.Natl.Acad.Sci.U.S.A_97_787 |
| Author(s) : Osuga J , Ishibashi S , Oka T , Yagyu H , Tozawa R , Fujimoto A , Shionoiri F , Yahagi N , Kraemer FB , Tsutsumi O , Yamada N |
| Ref : Proc Natl Acad Sci U S A , 97 :787 , 2000 |
| Abstract : Osuga_2000_Proc.Natl.Acad.Sci.U.S.A_97_787 |
| ESTHER : Osuga_2000_Proc.Natl.Acad.Sci.U.S.A_97_787 |
| PubMedSearch : Osuga_2000_Proc.Natl.Acad.Sci.U.S.A_97_787 |
| PubMedID: 10639158 |
| Gene_locus related to this paper: human-LIPE , mouse-hslip |
| Title : Molecular cloning, genomic organization, and expression of a testicular isoform of hormone-sensitive lipase - Holst_1996_Genomics_35_441 |
| Author(s) : Holst LS , Langin D , Mulder H , Laurell H , Grober J , Bergh A , Mohrenweiser HW , Edgren G , Holm C |
| Ref : Genomics , 35 :441 , 1996 |
| Abstract : Holst_1996_Genomics_35_441 |
| ESTHER : Holst_1996_Genomics_35_441 |
| PubMedSearch : Holst_1996_Genomics_35_441 |
| PubMedID: 8812477 |
| Gene_locus related to this paper: human-LIPE , ratno-hslip |
| Title : Hormone-sensitive lipase maps to proximal chromosome 7 in mice and is genetically distinct from the Ad and Tub loci - |
| Author(s) : Wang S , Lapierre P , Robert MF , Nadeau JH , Mitchell GA |
| Ref : Genomics , 24 :416 , 1994 |
| PubMedID: 7698777 |
| Gene_locus related to this paper: human-LIPE |
| Title : Gene organization and primary structure of human hormone-sensitive lipase: possible significance of a sequence homology with a lipase of Moraxella TA144, an antarctic bacterium - Langin_1993_Proc.Natl.Acad.Sci.U.S.A_90_4897 |
| Author(s) : Langin D , Laurell H , Holst LS , Belfrage P , Holm C |
| Ref : Proc Natl Acad Sci U S A , 90 :4897 , 1993 |
| Abstract : Langin_1993_Proc.Natl.Acad.Sci.U.S.A_90_4897 |
| ESTHER : Langin_1993_Proc.Natl.Acad.Sci.U.S.A_90_4897 |
| PubMedSearch : Langin_1993_Proc.Natl.Acad.Sci.U.S.A_90_4897 |
| PubMedID: 8506334 |
| Gene_locus related to this paper: human-LIPE |
| Title : Assignment of seven genes to distinct intervals on the midportion of human chromosome 19q surrounding the myotonic dystrophy gene region - Schonk_1990_Cytogenet.Cell.Genet_54_15 |
| Author(s) : Schonk D , van Dijk P , Riegmann P , Trapman J , Holm C , Willcocks TC , Sillekens P , van Venrooij W , Wimmer E , Geurts van Kessel A , et al. |
| Ref : Cytogenet Cell Genet , 54 :15 , 1990 |
| Abstract : Schonk_1990_Cytogenet.Cell.Genet_54_15 |
| ESTHER : Schonk_1990_Cytogenet.Cell.Genet_54_15 |
| PubMedSearch : Schonk_1990_Cytogenet.Cell.Genet_54_15 |
| PubMedID: 1701111 |
| Gene_locus related to this paper: human-LIPE |