human-LIPC

Homo sapiens (Human) LIPC hepatic triacylglycerol lipase HTGL

Comment

LIPC, which is synthesized in liver, is secreted and bound to hepatocytes and hepatic endothelial surfaces via heparin sulfate proteoglycans (HSPGs). Active LIPC exists as a homodimer and has broad substrate specificity, catalyzing the hydrolysis of fatty acyl chains at the sn-1 position of phospholipids and of mono-, di-, and triacylglycerols associated with a variety of lipoproteins, including high density lipoprotein (HDL). LIPC may also facilitate binding and uptake of lipoproteins and selective uptake of cholesteryl esters from lipoproteins (summary by Brown et al., 2004). (from OMIM) A Deficiency of HL is characterized by abnormally triglyceride-rich low and high density lipoproteins as well as beta-migrating very low density lipoproteins. Familial human hepatic lipase deficiency is a rare recessive disorder that results from mutations of the mature protein. The disease is characterised by premature atherosclerosis and abnormal circulating lipoproteins. One mutation (E97G) gives a gain of function phenotype and a different syndrome Hypobetalipoproteinemia

Relationship

Family : Hepatic_Lipase

Block : L

Position in NCBI Life Tree : Homo sapiens

(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)

> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N E

Molecular evidence

No mutation

No structure

No kinetic

No inhibitor

Sequence

Peptide

MDTSPLCFSI LLVLCIFIQS SALGQSLKPE PFGRRAQAVE TNKTLHEMKT RFLLFGETNQ GCQIRINHPD TLQECGFNSS LPLVMIIHGW SVDGVLENWI WQMVAALKSQ PAQPVNVGLV DWITLAHDHY TIAVRNTRLV GKEVAALLRW LEESVQLSRS HVHLIGYSLG AHVSGFAGSS IGGTHKIGRI TGLDAAGPLF EGSAPSNRLS PDDANFVDAI HTFTREHMGL SVGIKQPIGH YDFYPNGGSF QPGCHFLELY RHIAQHGFNA ITQTIKCSHE RSVHLFIDSL LHAGTQSMAY PCGDMNSFSQ GLCLSCKKGR CNTLGYHVRQ EPRSKSKRLF LVTRAQSPFK VYHYQLKIQF INQTETPIQT TFTMSLLGTK EKMQKIPITL GKGIASNKTY SFLITLDVDI GELIMIKFKW ENSAVWANVW DTVQTIIPWS TGPRHSGLVL KTIRVKAGET QQRMTFCSEN TDDLLLRPTQ EKIFVKCEIK SKTSKRKIR

References (48)

Title : Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia - Dijk_2022_Circulation__
Author(s) : Dijk W , Di Filippo M , Kooijman S , van Eenige R , Rimbert A , Caillaud A , Thedrez A , Arnaud L , Pronk A , Garcon D , Sotin T , Lindenbaum P , Garcia EO , Pais de Barros JP , Duvillard L , Si-Tayeb K , Amigo N , Le Questel JY , Rensen PCN , Le May C , Moulin P , Cariou B
Ref : Circulation , : , 2022
PubMedID: 35899625
Gene_locus related to this paper: human-LIPC

Title : The -250G\/A and -514C\/T Polymorphisms in Hepatic Lipase Gene Promoter Confers an Increased Risk of Hepatocellular Carcinoma in a Chinese Population - Niu_2018_Ann.Hepatol_17_992
Author(s) : Niu CZ , Zhang FH , Li Y , Liu JJ , Bao CX
Ref : Ann Hepatol , 17 :992 , 2018
PubMedID: 30600300
Gene_locus related to this paper: human-LIPC

Title : Characterization of a peptide containing the major heparin binding domain of human hepatic lipase - Coady_2018_J.Pept.Sci__e3123
Author(s) : Coady BM , Marshall JD , Hattie LE , Brannan AM , Fitzpatrick MN , Hickey KE , Wallin S , Booth V , Brown RJ
Ref : J Pept Sci , :e3123 , 2018
PubMedID: 30288870
Gene_locus related to this paper: human-LIPC

Title : Hormone-sensitive lipase preferentially redistributes to lipid droplets associated with perilipin-5 in human skeletal muscle during moderate-intensity exercise - Whytock_2018_J.Physiol_596_2077
Author(s) : Whytock KL , Shepherd SO , Wagenmakers AJM , Strauss JA
Ref : Journal de Physiologie , 596 :2077 , 2018
PubMedID: 29527681
Gene_locus related to this paper: human-LIPC

Title : The role of plasma lipoprotein lipase, hepatic lipase and GPIHBP1 in the metabolism of remnant lipoproteins and small dense LDL in patients with coronary artery disease - Muraba_2017_Clin.Chim.Acta_476_146
Author(s) : Muraba Y , Koga T , Shimomura Y , Ito Y , Hirao Y , Kobayashi J , Kimura T , Nakajima K , Murakami M
Ref : Clinica Chimica Acta , 476 :146 , 2017
PubMedID: 29174344
Gene_locus related to this paper: human-LIPC , human-LPL

Title : Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride - Buonuomo_2017_J.Clin.Lipidol_11_1329
Author(s) : Buonuomo PS , Rabacchi C , Macchiaiolo M , Trenti C , Fasano T , Tarugi P , Bartuli A , Bertolini S , Calandra S
Ref : J Clin Lipidol , 11 :1329 , 2017
PubMedID: 28951076
Gene_locus related to this paper: human-LIPC , human-LPL

Title : The Contribution of GWAS Loci in Familial Dyslipidemias - Ripatti_2016_PLoS.Genet_12_e1006078
Author(s) : Ripatti P , Ramo JT , Soderlund S , Surakka I , Matikainen N , Pirinen M , Pajukanta P , Sarin AP , Service SK , Laurila PP , Ehnholm C , Salomaa V , Wilson RK , Palotie A , Freimer NB , Taskinen MR , Ripatti S
Ref : PLoS Genet , 12 :e1006078 , 2016
PubMedID: 27227539
Gene_locus related to this paper: human-LIPC

Title : An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome - Bian_2014_J.Proteomics_96_253
Author(s) : Bian Y , Song C , Cheng K , Dong M , Wang F , Huang J , Sun D , Wang L , Ye M , Zou H
Ref : J Proteomics , 96 :253 , 2014
PubMedID: 24275569
Gene_locus related to this paper: human-LIPC

Title : Role of SN1 lipases on plasma lipids in metabolic syndrome and obesity - Miksztowicz_2014_Arterioscler.Thromb.Vasc.Biol_34_669
Author(s) : Miksztowicz V , Schreier L , McCoy M , Lucero D , Fassio E , Billheimer J , Rader DJ , Berg G
Ref : Arterioscler Thromb Vasc Biol , 34 :669 , 2014
PubMedID: 24458708
Gene_locus related to this paper: human-LIPC , human-LPL , human-LIPG

Title : Lipidomic analyses of female mice lacking hepatic lipase and endothelial lipase indicate selective modulation of plasma lipid species - Yang_2014_Lipids_49_505
Author(s) : Yang Y , Kuwano T , Lagor WR , Albert CJ , Brenton S , Rader DJ , Ford DA , Brown RJ
Ref : Lipids , 49 :505 , 2014
PubMedID: 24777581
Gene_locus related to this paper: human-LIPC , human-LIPG

Title : Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia - Plengpanich_2013_Clin.Chim.Acta_416_92
Author(s) : Plengpanich W , Tongkobpetch S , Shotelersuk V , Le Goff W , Khovidhunkit W
Ref : Clinica Chimica Acta , 416 :92 , 2013
PubMedID: 23219720
Gene_locus related to this paper: human-LIPC

Title : Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia - Khovidhunkit_2012_Am.J.Cardiol_110_62
Author(s) : Khovidhunkit W , Chartyingcharoen P , Siriwong S , Limumpornpetch P , Plengpanich W
Ref : American Journal of Cardiology , 110 :62 , 2012
PubMedID: 22464213
Gene_locus related to this paper: human-LIPC

Title : The -514C\/T Polymorphism of Hepatic Lipase Gene among Iranian Patients with Coronary Heart Disease - Ghatreh_2012_Iran.J.Public.Health_41_59
Author(s) : Ghatreh Samani K , Noori M , Nobar MR , Chaleshtory MH , Farrokhi E , Amin MD
Ref : Iran J Public Health , 41 :59 , 2012
PubMedID: 23113123
Gene_locus related to this paper: human-LIPC

Title : Role of hepatic lipase and endothelial lipase in high-density lipoprotein-mediated reverse cholesterol transport - Annema_2011_Curr.Atheroscler.Rep_13_257
Author(s) : Annema W , Tietge UJ
Ref : Curr Atheroscler Rep , 13 :257 , 2011
PubMedID: 21424685
Gene_locus related to this paper: human-LIPC , human-LIPG

Title : Hepatic lipase deficiency in a Middle-Eastern-Arabic male. - Al Riyami_2010_BMJ.Case.Rep__
Author(s) : Al Riyami N , Al-Ali AM , Al-Sarraf AJ , Hill J , Sachs-Barrable K , Hegele R , Wasan KM , Frohlich J
Ref : BMJ Case Rep , : , 2010
PubMedID: 22798447
Gene_locus related to this paper: human-LIPC

Title : Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population - Hodoglugil_2010_J.Lipid.Res_51_422
Author(s) : Hodoglugil U , Williamson DW , Mahley RW
Ref : J Lipid Res , 51 :422 , 2010
PubMedID: 19734193
Gene_locus related to this paper: human-LIPC

Title : Impact of combined deficiency of hepatic lipase and endothelial lipase on the metabolism of both high-density lipoproteins and apolipoprotein B-containing lipoproteins - Brown_2010_Circ.Res_107_357
Author(s) : Brown RJ , Lagor WR , Sankaranaravanan S , Yasuda T , Quertermous T , Rothblat GH , Rader DJ
Ref : Circulation Research , 107 :357 , 2010
PubMedID: 20558822
Gene_locus related to this paper: human-LIPC , human-LIPG

Title : [Association of the hepatic lipase gene -250G\/A promoter polymorphism with the susceptibility to type 2 diabetes mellitus combining with coronary heart disease] - Wei_2009_Zhonghua.Yi.Xue.Yi.Chuan.Xue.Za.Zhi_26_219
Author(s) : Wei M , Lu YS , Li PP
Ref : Zhonghua Yi Xue Yi Chuan Xue Za Zhi , 26 :219 , 2009
PubMedID: 19350521
Gene_locus related to this paper: human-LIPC

Title : LIPC variants in the promoter and intron 1 modify HDL-C levels in a sex-specific fashion - Feitosa_2009_Atherosclerosis_204_171
Author(s) : Feitosa MF , Myers RH , Pankow JS , Province MA , Borecki IB
Ref : Atherosclerosis , 204 :171 , 2009
PubMedID: 19101670
Gene_locus related to this paper: human-LIPC

Title : Combined hepatic lipase -514C\/T and cholesteryl ester transfer protein I405V polymorphisms are associated with the risk of coronary artery disease - Ghatrehsamani_2009_Genet.Test.Mol.Biomarkers_13_809
Author(s) : Ghatrehsamani K , Darabi M , Rahbani M , Hashemzadeh Chaleshtory M , Farrokhi E , Noori M
Ref : Genet Test Mol Biomarkers , 13 :809 , 2009
PubMedID: 19810818
Gene_locus related to this paper: human-LIPC

Title : Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia - Plengpanich_2009_Metabolism_58_1178
Author(s) : Plengpanich W , Siriwong S , Khovidhunkit W
Ref : Metabolism , 58 :1178 , 2009
PubMedID: 19428034
Gene_locus related to this paper: human-LIPC

Title : Hepatic lipase gene -514C\/T polymorphism in the Guangxi Hei Yi Zhuang and Han populations - Wu_2008_Lipids_43_733
Author(s) : Wu J , Yin R , Lin W , Pan S , Yang D
Ref : Lipids , 43 :733 , 2008
PubMedID: 18592285
Gene_locus related to this paper: human-LIPC

Title : The -250G\/A polymorphism in the hepatic lipase gene promoter influences the postprandial lipemic response in healthy men - Jimenez-Gomez_2008_Nutr.Metab.Cardiovasc.Dis_18_173
Author(s) : Jimenez-Gomez Y , Perez-Jimenez F , Marin C , Gomez P , Moreno R , Delgado J , Perez-Martinez P , Gomez MJ , Lopez-Miranda J
Ref : Nutr Metab Cardiovasc Dis , 18 :173 , 2008
PubMedID: 17399967
Gene_locus related to this paper: human-LIPC

Title : [Association of hepatic lipase gene promoter polymorphism -514C\/T with nonalcoholic fatty liver disease] - Zhan_2008_Zhonghua.Gan.Zang.Bing.Za.Zhi_16_375
Author(s) : Zhan Q , Li YY , Nie YQ , Zhou YJ , Du YL , Sha WH , Wang H
Ref : Zhonghua Gan Zang Bing Za Zhi , 16 :375 , 2008
PubMedID: 18510853
Gene_locus related to this paper: human-LIPC

Title : Association of the -250G\/A promoter polymorphism of the hepatic lipase gene with the risk of peripheral arterial disease in type 2 diabetic patients - Valdivielso_2008_J.Diabetes.Complications_22_273
Author(s) : Valdivielso P , Ariza MJ , de la Vega-Roman C , Gonzalez-Alegre T , Rioja J , Ulzurrun E , Gonzalez-Santos P
Ref : J Diabetes Complications , 22 :273 , 2008
PubMedID: 18413186
Gene_locus related to this paper: human-LIPC

Title : The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity in a study of 16,156 Danish subjects - Grarup_2008_J.Clin.Endocrinol.Metab_93_2294
Author(s) : Grarup N , Andreasen CH , Andersen MK , Albrechtsen A , Sandbaek A , Lauritzen T , Borch-Johnsen K , Jorgensen T , Schmitz O , Hansen T , Pedersen O
Ref : J Clinical Endocrinology Metab , 93 :2294 , 2008
PubMedID: 18364377
Gene_locus related to this paper: human-LIPC

Title : Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension - Kokubo_2006_Hypertens.Res_29_611
Author(s) : Kokubo Y , Tomoike H , Tanaka C , Banno M , Okuda T , Inamoto N , Kamide K , Kawano Y , Miyata T
Ref : Hypertens Res , 29 :611 , 2006
PubMedID: 17137217
Gene_locus related to this paper: human-LIPC

Title : Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency - Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600
Author(s) : Ruel IL , Lamarche B , Mauger JF , Badellino KO , Cohn JS , Marcil M , Couture P
Ref : Arterioscler Thromb Vasc Biol , 25 :2600 , 2005
PubMedID: 16224048
Gene_locus related to this paper: human-LIPC

Title : The -514C\/T polymorphism of the hepatic lipase gene significantly modulates the HDL-cholesterol response to statin treatment - Lahoz_2005_Atherosclerosis_182_129
Author(s) : Lahoz C , Pena R , Mostaza JM , Laguna F , Garcia-Iglesias MF , Taboada M , Pinto X
Ref : Atherosclerosis , 182 :129 , 2005
PubMedID: 16115483
Gene_locus related to this paper: human-LIPC

Title : Association between -250G\/A polymorphism of the hepatic lipase gene promoter and coronary artery disease and HDL-C levels in a Southern Brazilian population - de Andrade_2004_Clin.Genet_65_390
Author(s) : de Andrade FM , Silveira FR , Arsand M , Antunes AL , Torres MR , Zago AJ , Callegari-Jaques SM , Hutz MH
Ref : Clin Genet , 65 :390 , 2004
PubMedID: 15099346
Gene_locus related to this paper: human-LIPC

Title : Evidence that hepatic lipase and endothelial lipase have different substrate specificities for high-density lipoprotein phospholipids - Duong_2003_Biochemistry_42_13778
Author(s) : Duong M , Psaltis M , Rader DJ , Marchadier D , Barter PJ , Rye KA
Ref : Biochemistry , 42 :13778 , 2003
PubMedID: 14622025
Gene_locus related to this paper: human-LIPC , human-LIPG

Title : Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors - Morabia_2003_Hum.Mol.Genet_12_2733
Author(s) : Morabia A , Cayanis E , Costanza MC , Ross BM , Flaherty MS , Alvin GB , Das K , Gilliam TC
Ref : Hum Mol Genet , 12 :2733 , 2003
PubMedID: 12966036
Gene_locus related to this paper: human-LIPC

Title : Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians - Ruel_2003_J.Lipid.Res_44_1508
Author(s) : Ruel IL , Couture P , Gagne C , Deshaies Y , Simard J , Hegele RA , Lamarche B
Ref : J Lipid Res , 44 :1508 , 2003
PubMedID: 12777476
Gene_locus related to this paper: human-LIPC

Title : The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia - Hoffer_2000_Atherosclerosis_151_443
Author(s) : Hoffer MJ , Snieder H , Bredie SJ , Demacker PN , Kastelein JJ , Frants RR , Stalenhoef AF
Ref : Atherosclerosis , 151 :443 , 2000
PubMedID: 10924721
Gene_locus related to this paper: human-LIPC

Title : Characterization of single-nucleotide polymorphisms in coding regions of human genes - Cargill_1999_Nat.Genet_22_231
Author(s) : Cargill M , Altshuler D , Ireland J , Sklar P , Ardlie K , Patil N , Shaw N , Lane CR , Lim EP , Kalyanaraman N , Nemesh J , Ziaugra L , Friedland L , Rolfe A , Warrington J , Lipshutz R , Daley GQ , Lander ES
Ref : Nat Genet , 22 :231 , 1999
PubMedID: 10391209
Gene_locus related to this paper: human-LIPC

Title : Hepatic lipase: new insights from genetic and metabolic studies - Cohen_1999_Curr.Opin.Lipidol_10_259
Author(s) : Cohen JC , Vega GL , Grundy SM
Ref : Curr Opin Lipidol , 10 :259 , 1999
PubMedID: 10431662
Gene_locus related to this paper: human-LIPC

Title : 18 bp Insertion\/Duplication With Internal Missense Mutation in Human Hepatic Lipase Gene Exon 3. -
Author(s) : Tiebel O , Gehrisch S , Pietzsch J , Gromeier S , Jaross W
Ref : Hum Mutat , 12 :216 , 1998
PubMedID: 10660332
Gene_locus related to this paper: human-LIPC

Title : Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene - Knudsen_1997_Atherosclerosis_128_165
Author(s) : Knudsen P , Antikainen M , Uusi-Oukari M , Ehnholm S , Lahdenpera S , Bensadoun A , Funke H , Wiebusch H , Assmann G , Taskinen MR , Ehnholm C
Ref : Atherosclerosis , 128 :165 , 1997
PubMedID: 9050773
Gene_locus related to this paper: human-LIPC

Title : A hepatic lipase (LIPC) allele associated with high plasma concentrations of high density lipoprotein cholesterol - Guerra_1997_Proc.Natl.Acad.Sci.U.S.A_94_4532
Author(s) : Guerra R , Wang J , Grundy SM , Cohen JC
Ref : Proc Natl Acad Sci U S A , 94 :4532 , 1997
PubMedID: 9114024
Gene_locus related to this paper: human-LIPC

Title : An AvaII polymorphism in exon 5 of the human hepatic triglyceride lipase gene -
Author(s) : Mori A , Takagi A , Ikeda Y , Ashida Y , Yamamoto A
Ref : Mol Cell Probes , 10 :309 , 1996
PubMedID: 8865179
Gene_locus related to this paper: human-LIPC

Title : Identification of a BstNI polymorphism in exon 9 of the human hepatic triglyceride lipase gene -
Author(s) : Takagi A , Ikeda Y , Mori A , Ashida Y , Yamamoto A
Ref : Mol Cell Probes , 10 :313 , 1996
PubMedID: 8865180
Gene_locus related to this paper: human-LIPC

Title : Isolation and characterization of the human hepatic lipase gene - Ameis_1990_J.Biol.Chem_265_6552
Author(s) : Ameis D , Stahnke G , Kobayashi J , McLean J , Lee G , Buscher M , Schotz MC , Will H
Ref : Journal of Biological Chemistry , 265 :6552 , 1990
PubMedID: 2324091
Gene_locus related to this paper: human-LIPC

Title : Structure of the human hepatic triglyceride lipase gene - Cai_1989_Biochemistry_28_8966
Author(s) : Cai SJ , Wong DM , Chen SH , Chan L
Ref : Biochemistry , 28 :8966 , 1989
PubMedID: 2605236
Gene_locus related to this paper: human-LIPC

Title : Isolation and cDNA sequence of human postheparin plasma hepatic triglyceride lipase - Martin_1988_J.Biol.Chem_263_10907
Author(s) : Martin GA , Busch SJ , Meredith GD , Cardin AD , Blankenship DT , Mao SJ , Rechtin AE , Woods CW , Racke MM , Schafer MP , Fitzgerald MC , Burke DM , Flanagan MA , Jackson RL
Ref : Journal of Biological Chemistry , 263 :10907 , 1988
PubMedID: 2839510
Gene_locus related to this paper: human-LIPC

Title : Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase - Datta_1988_J.Biol.Chem_263_1107
Author(s) : Datta S , Luo CC , Li WH , VanTuinen P , Ledbetter DH , Brown MA , Chen SH , Liu SW , Chan L
Ref : Journal of Biological Chemistry , 263 :1107 , 1988
PubMedID: 2447084
Gene_locus related to this paper: human-LIPC

Title : Human hepatic triglyceride lipase: cDNA cloning, amino acid sequence and expression in a cultured cell line - Stahnke_1987_Differentiation_35_45
Author(s) : Stahnke G , Sprengel R , Augustin J , Will H
Ref : Differentiation , 35 :45 , 1987
PubMedID: 2828141
Gene_locus related to this paper: human-LIPC

Title : Preparation, characterization, and measurement of hepatic lipase -
Author(s) : Ehnholm C , Kuusi T
Ref : Methods Enzymol , 129 :716 , 1986
PubMedID: 3724551
Gene_locus related to this paper: human-LIPC