human-PNLIP
Homo sapiens (Human) triacylglycerol lipase (pancreatic lipase)
Comment
Ensembl OTTHUMG00000019103 || Pancreatic lipase (EC 3.1.1.3), a 56-kD protein, is involved in the hydrolysis of dietary triglycerides to fatty acids in the intestine. This hydrolysis, which is initiated in the stomach by gastric lipase, is essential for the intestinal absorption of long-chain triglyceride fatty acids. Pancreatic colipase (120105) is a 12-kD cofactor that appears to overcome the inhibitory effects of intestinal bile salts on pancreatic lipase.Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. Patients have oily\/greasy stools from infancy or early childhood and the absence of discernable pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity. Fat absorption in patients my may reach 79percent, suggesting that extrapancreatic sources of lipase, such as lingual and gastric lipase, may have an important compensating role in fat digestion. Pancreatic lipase deficiency can be combined with Colipase deficiency
Relationship
Molecular evidence
No mutation
Sequence
Peptide
MLPLWTLSLL LGAVAGKEVC YERLGCFSDD SPWSGITERP LHILPWSPKD VNTRFLLYTN ENPNNFQEVA ADSSSISGSN FKTNRKTRFI IHGFIDKGEE NWLANVCKNL FKVESVNCIC VDWKGGSRTG YTQASQNIRI VGAEVAYFVE FLQSAFGYSP SNVHVIGHSL GAHAAGEAGR RTNGTIGRIT GLDPAEPCFQ GTPELVRLDP SDAKFVDVIH TDGAPIVPNL GFGMSQVVGH LDFFPNGGVE MPGCKKNILS QIVDIDGIWE GTRDFAACNH LRSYKYYTDS IVNPDGFAGF PCASYNVFTA NKCFPCPSGG CPQMGHYADR YPGKTNDVGQ KFYLDTGDAS NFARWRYKVS VTLSGKKVTG HILVSLFGNK GNSKQYEIFK GTLKPDSTHS NEFDSDVDVG DLQMVKFIWY NNVINPTLPR VGASKIIVET NVGKQFNFCS PETVREEVLL TLTPC
References
| Title : Characterization of novel PNLIP variants in congenital pancreatic lipase deficiency - Lin_2023_Pancreatology_S1424-3903_01834 |
| Author(s) : Lin J , Matiwala N , Curry GE , Wilhelm SJ , Cassidy BM , Lowe ME , Xiao X |
| Ref : Pancreatology , : , 2023 |
| Abstract : Lin_2023_Pancreatology_S1424-3903_01834 |
| ESTHER : Lin_2023_Pancreatology_S1424-3903_01834 |
| PubMedSearch : Lin_2023_Pancreatology_S1424-3903_01834 |
| PubMedID: 37926600 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis - Masson_2023_Pancreatology__ |
| Author(s) : Masson E , Berthet S , Le Gac G , Le Rhun M , Ka C , Autret S , Gourlaouen I |
| Ref : Pancreatology , : , 2023 |
| Abstract : Masson_2023_Pancreatology__ |
| ESTHER : Masson_2023_Pancreatology__ |
| PubMedSearch : Masson_2023_Pancreatology__ |
| PubMedID: 37270400 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study - Kamal_2022_Ther.Adv.Chronic.Dis_13_20406223221078757 |
| Author(s) : Kamal NM , Saadah OI , Alheraiti SS , Attar R , Alsufyani AD , El-Shabrawi MHF , Sherief LM |
| Ref : Ther Adv Chronic Dis , 13 :20406223221078757 , 2022 |
| Abstract : Kamal_2022_Ther.Adv.Chronic.Dis_13_20406223221078757 |
| ESTHER : Kamal_2022_Ther.Adv.Chronic.Dis_13_20406223221078757 |
| PubMedSearch : Kamal_2022_Ther.Adv.Chronic.Dis_13_20406223221078757 |
| PubMedID: 35284057 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis - Lasher_2019_Am.J.Gastroenterol_114_974 |
| Author(s) : Lasher D , Szabo A , Masamune A , Chen JM , Xiao X , Whitcomb DC , Barmada MM , Ewers M , Ruffert C , Paliwal S , Issarapu P , Bhaskar S , Mani KR , Chandak GR , Laumen H , Masson E , Kume K , Hamada S , Nakano E , Seltsam K , Bugert P , Muller T , Groneberg DA , Shimosegawa T , Rosendahl J , Ferec C , Lowe ME , Witt H , Sahin-Toth M |
| Ref : Am J Gastroenterol , 114 :974 , 2019 |
| Abstract : Lasher_2019_Am.J.Gastroenterol_114_974 |
| ESTHER : Lasher_2019_Am.J.Gastroenterol_114_974 |
| PubMedSearch : Lasher_2019_Am.J.Gastroenterol_114_974 |
| PubMedID: 30789418 |
| Gene_locus related to this paper: human-PNLIP |
| Title : A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding - Szabo_2015_Biochim.Biophys.Acta_1852_1372 |
| Author(s) : Szabo A , Xiao X , Haughney M , Spector A , Sahin-Toth M , Lowe ME |
| Ref : Biochimica & Biophysica Acta , 1852 :1372 , 2015 |
| Abstract : Szabo_2015_Biochim.Biophys.Acta_1852_1372 |
| ESTHER : Szabo_2015_Biochim.Biophys.Acta_1852_1372 |
| PubMedSearch : Szabo_2015_Biochim.Biophys.Acta_1852_1372 |
| PubMedID: 25862608 |
| Gene_locus related to this paper: human-PNLIP |
| Title : The beta5-Loop and Lid Domain Contribute to the Substrate Specificity of Pancreatic Lipase-related Protein 2 (PNLIPRP2) - Xiao_2015_J.Biol.Chem_290_28847 |
| Author(s) : Xiao X , Lowe ME |
| Ref : Journal of Biological Chemistry , 290 :28847 , 2015 |
| Abstract : Xiao_2015_J.Biol.Chem_290_28847 |
| ESTHER : Xiao_2015_J.Biol.Chem_290_28847 |
| PubMedSearch : Xiao_2015_J.Biol.Chem_290_28847 |
| PubMedID: 26494624 |
| Gene_locus related to this paper: human-PNLIP , human-PNLIPRP2 |
| Title : Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency - Behar_2014_J.Lipid.Res_55_307 |
| Author(s) : Behar DM , Basel-Vanagaite L , Glaser F , Kaplan M , Tzur S , Magal N , Eidlitz-Markus T , Haimi-Cohen Y , Sarig G , Bormans C , Shohat M , Zeharia A |
| Ref : J Lipid Res , 55 :307 , 2014 |
| Abstract : Behar_2014_J.Lipid.Res_55_307 |
| ESTHER : Behar_2014_J.Lipid.Res_55_307 |
| PubMedSearch : Behar_2014_J.Lipid.Res_55_307 |
| PubMedID: 24262094 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Antiobesity potential of ursolic acid stearoyl glucoside by inhibiting pancreatic lipase - Kazmi_2013_Eur.J.Pharmacol_709_28 |
| Author(s) : Kazmi I , Afzal M , Rahman S , Iqbal M , Imam F , Anwar F |
| Ref : European Journal of Pharmacology , 709 :28 , 2013 |
| Abstract : Kazmi_2013_Eur.J.Pharmacol_709_28 |
| ESTHER : Kazmi_2013_Eur.J.Pharmacol_709_28 |
| PubMedSearch : Kazmi_2013_Eur.J.Pharmacol_709_28 |
| PubMedID: 23500199 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Analysis of the discriminative inhibition of mammalian digestive lipases by 3-phenyl substituted 1,3,4-oxadiazol-2(3H)-ones. - Point_2012_Eur.J.Med.Chem_58_452 |
| Author(s) : Point V , Pavan Kumar KV , Marc S , Delorme V , Parsiegla G , Amara S , Carriere F , Buono G , Fotiadu F , Canaan S , Leclaire J , Cavalier JF |
| Ref : Eur Journal of Medicinal Chemistry , 58 :452 , 2012 |
| Abstract : Point_2012_Eur.J.Med.Chem_58_452 |
| ESTHER : Point_2012_Eur.J.Med.Chem_58_452 |
| PubMedSearch : Point_2012_Eur.J.Med.Chem_58_452 |
| PubMedID: 23153815 |
| Gene_locus related to this paper: canfa-1lipg , cavpo-2plrp , human-CEL , human-PNLIP , human-PNLIPRP2 , pig-1plip |
| Title : (-)-Epigallocatechin-3-gallate inhibits pancreatic lipase and reduces body weight gain in high fat-fed obese mice - Grove_2012_Obesity.(Silver.Spring)_20_2311 |
| Author(s) : Grove KA , Sae-tan S , Kennett MJ , Lambert JD |
| Ref : Obesity (Silver Spring) , 20 :2311 , 2012 |
| Abstract : Grove_2012_Obesity.(Silver.Spring)_20_2311 |
| ESTHER : Grove_2012_Obesity.(Silver.Spring)_20_2311 |
| PubMedSearch : Grove_2012_Obesity.(Silver.Spring)_20_2311 |
| PubMedID: 21633405 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Trp-107 and trp-253 account for the increased steady state fluorescence that accompanies the conformational change in human pancreatic triglyceride lipase induced by tetrahydrolipstatin and bile salt - Bourbon-Freie_2009_J.Biol.Chem_284_14157 |
| Author(s) : Bourbon-Freie A , Dub RE , Xiao X , Lowe ME |
| Ref : Journal of Biological Chemistry , 284 :14157 , 2009 |
| Abstract : Bourbon-Freie_2009_J.Biol.Chem_284_14157 |
| ESTHER : Bourbon-Freie_2009_J.Biol.Chem_284_14157 |
| PubMedSearch : Bourbon-Freie_2009_J.Biol.Chem_284_14157 |
| PubMedID: 19346257 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Pancreatic lipase and pancreatic lipase-related protein 2, but not pancreatic lipase-related protein 1, hydrolyze retinyl palmitate in physiological conditions - Reboul_2006_Biochim.Biophys.Acta_1761_4 |
| Author(s) : Reboul E , Berton A , Moussa M , Kreuzer C , Crenon I , Borel P |
| Ref : Biochimica & Biophysica Acta , 1761 :4 , 2006 |
| Abstract : Reboul_2006_Biochim.Biophys.Acta_1761_4 |
| ESTHER : Reboul_2006_Biochim.Biophys.Acta_1761_4 |
| PubMedSearch : Reboul_2006_Biochim.Biophys.Acta_1761_4 |
| PubMedID: 16497549 |
| Gene_locus related to this paper: human-PNLIP , human-PNLIPRP2 |
| Title : Val-407 and Ile-408 in the beta5'-loop of pancreatic lipase mediate lipase-colipase interactions in the presence of bile salt micelles - Freie_2006_J.Biol.Chem_281_7793 |
| Author(s) : Freie AB , Ferrato F , Carriere F , Lowe ME |
| Ref : Journal of Biological Chemistry , 281 :7793 , 2006 |
| Abstract : Freie_2006_J.Biol.Chem_281_7793 |
| ESTHER : Freie_2006_J.Biol.Chem_281_7793 |
| PubMedSearch : Freie_2006_J.Biol.Chem_281_7793 |
| PubMedID: 16431912 |
| Gene_locus related to this paper: human-PNLIP |
| Title : A pancreatic lipase with a phospholipase A1 activity: crystal structure of a chimeric pancreatic lipase-related protein 2 from guinea pig - Withers-Martinez_1996_Structure_4_1363 |
| Author(s) : Withers-Martinez C , Carriere F , Verger R , Bourgeois D , Cambillau C |
| Ref : Structure , 4 :1363 , 1996 |
| Abstract : Withers-Martinez_1996_Structure_4_1363 |
| ESTHER : Withers-Martinez_1996_Structure_4_1363 |
| PubMedSearch : Withers-Martinez_1996_Structure_4_1363 |
| PubMedID: 8939760 |
| Gene_locus related to this paper: human-PNLIP |
| Title : The 2.46 A resolution structure of the pancreatic lipase-colipase complex inhibited by a C11 alkyl phosphonate - Egloff_1995_Biochemistry_34_2751 |
| Author(s) : Egloff MP , Marguet F , Buono G , Verger R , Cambillau C , van Tilbeurgh H |
| Ref : Biochemistry , 34 :2751 , 1995 |
| Abstract : Egloff_1995_Biochemistry_34_2751 |
| ESTHER : Egloff_1995_Biochemistry_34_2751 |
| PubMedSearch : Egloff_1995_Biochemistry_34_2751 |
| PubMedID: 7893686 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Interfacial activation of the lipase-procolipase complex by mixed micelles revealed by X-ray crystallography - van Tilbeurgh_1993_Nature_362_814 |
| Author(s) : van Tilbeurgh H , Egloff MP , Martinez C , Rugani N , Verger R , Cambillau C |
| Ref : Nature , 362 :814 , 1993 |
| Abstract : van Tilbeurgh_1993_Nature_362_814 |
| ESTHER : van Tilbeurgh_1993_Nature_362_814 |
| PubMedSearch : van Tilbeurgh_1993_Nature_362_814 |
| PubMedID: 8479519 |
| Gene_locus related to this paper: human-PNLIP |
| Title : The human pancreatic lipase-encoding gene: structure and conservation of an Alu sequence in the lipase gene family - Sims_1993_Gene_131_281 |
| Author(s) : Sims HF , Jennens ML , Lowe ME |
| Ref : Gene , 131 :281 , 1993 |
| Abstract : Sims_1993_Gene_131_281 |
| ESTHER : Sims_1993_Gene_131_281 |
| PubMedSearch : Sims_1993_Gene_131_281 |
| PubMedID: 8406023 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Structure of the pancreatic lipase-procolipase complex - van Tilbeurgh_1992_Nature_359_159 |
| Author(s) : van Tilbeurgh H , Sarda L , Verger R , Cambillau C |
| Ref : Nature , 359 :159 , 1992 |
| Abstract : van Tilbeurgh_1992_Nature_359_159 |
| ESTHER : van Tilbeurgh_1992_Nature_359_159 |
| PubMedSearch : van Tilbeurgh_1992_Nature_359_159 |
| PubMedID: 1522902 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Inactivation of gastric and pancreatic lipases by diethyl p-nitrophenyl phosphate - Moreau_1991_Biochemistry_30_1037 |
| Author(s) : Moreau H , Moulin A , Gargouri Y , Noel JP , Verger R |
| Ref : Biochemistry , 30 :1037 , 1991 |
| Abstract : Moreau_1991_Biochemistry_30_1037 |
| ESTHER : Moreau_1991_Biochemistry_30_1037 |
| PubMedSearch : Moreau_1991_Biochemistry_30_1037 |
| PubMedID: 1989675 |
| Gene_locus related to this paper: human-LIPF , human-PNLIP |
| Title : Assignment of human pancreatic lipase gene (PNLIP) to chromosome 10q24-q26 - Davis_1991_Genomics_11_1164 |
| Author(s) : Davis RC , Diep A , Hunziker W , Klisak I , Mohandas T , Schotz MC , Sparkes RS , Lusis AJ |
| Ref : Genomics , 11 :1164 , 1991 |
| Abstract : Davis_1991_Genomics_11_1164 |
| ESTHER : Davis_1991_Genomics_11_1164 |
| PubMedSearch : Davis_1991_Genomics_11_1164 |
| PubMedID: 1783385 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Structure of human pancreatic lipase - Winkler_1990_Nature_343_771 |
| Author(s) : Winkler FK , D'Arcy A , Hunziker W |
| Ref : Nature , 343 :771 , 1990 |
| Abstract : Winkler_1990_Nature_343_771 |
| ESTHER : Winkler_1990_Nature_343_771 |
| PubMedSearch : Winkler_1990_Nature_343_771 |
| PubMedID: 2106079 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Isolated lipase and colipase deficiency in two brothers - Ligumsky_1990_Gut_31_1416 |
| Author(s) : Ligumsky M , Granot E , Branski D , Stankiewicz H , Goldstein R |
| Ref : Gut , 31 :1416 , 1990 |
| Abstract : Ligumsky_1990_Gut_31_1416 |
| ESTHER : Ligumsky_1990_Gut_31_1416 |
| PubMedSearch : Ligumsky_1990_Gut_31_1416 |
| PubMedID: 2265786 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Cloning and characterization of human pancreatic lipase cDNA - Lowe_1989_J.Biol.Chem_264_20042 |
| Author(s) : Lowe ME , Rosenblum JL , Strauss AW |
| Ref : Journal of Biological Chemistry , 264 :20042 , 1989 |
| Abstract : Lowe_1989_J.Biol.Chem_264_20042 |
| ESTHER : Lowe_1989_J.Biol.Chem_264_20042 |
| PubMedSearch : Lowe_1989_J.Biol.Chem_264_20042 |
| PubMedID: 2479644 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Isolated congenital lipase-colipase deficiency - Ghishan_1984_Gastroenterology_86_1580 |
| Author(s) : Ghishan FK , Moran JR , Durie PR , Greene HL |
| Ref : Gastroenterology , 86 :1580 , 1984 |
| Abstract : Ghishan_1984_Gastroenterology_86_1580 |
| ESTHER : Ghishan_1984_Gastroenterology_86_1580 |
| PubMedSearch : Ghishan_1984_Gastroenterology_86_1580 |
| PubMedID: 6714581 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Isolated co-lipase deficiency in two brothers - Hildebrand_1982_Gut_23_243 |
| Author(s) : Hildebrand H , Borgstrom B , Bekassy A , Erlanson-Albertsson C , Helin I |
| Ref : Gut , 23 :243 , 1982 |
| Abstract : Hildebrand_1982_Gut_23_243 |
| ESTHER : Hildebrand_1982_Gut_23_243 |
| PubMedSearch : Hildebrand_1982_Gut_23_243 |
| PubMedID: 7068048 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Congenital pancreatic lipase deficiency - Figarella_1980_J.Pediatr_96_412 |
| Author(s) : Figarella C , de Caro A , Leupold D , Poley JR |
| Ref : J Pediatr , 96 :412 , 1980 |
| Abstract : Figarella_1980_J.Pediatr_96_412 |
| ESTHER : Figarella_1980_J.Pediatr_96_412 |
| PubMedSearch : Figarella_1980_J.Pediatr_96_412 |
| PubMedID: 6153713 |
| Gene_locus related to this paper: human-PNLIP , human-PNLIPRP1 |
| Title : [A new case of congenital pancreatic lipase deficiency with presence of colipase (author's transl)] - |
| Author(s) : Figarella C , de Caro A , Deprez P , Bouvry M , Bernier JJ |
| Ref : Gastroenterol Clin Biol , 3 :43 , 1979 |
| PubMedID: 437399 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Proceedings: Studies on the mechanism of fat absorption in congenital isolated lipase deficiency - |
| Author(s) : Muller DP , McCollum JP , Trompeter RS , Harries JT |
| Ref : Gut , 16 :838 , 1975 |
| PubMedID: 1205319 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Presence of colipase in a congenital pancreatic lipase deficiency - |
| Author(s) : Figarella C , Negri GA , Sarles H |
| Ref : Biochimica & Biophysica Acta , 280 :205 , 1972 |
| PubMedID: 4627134 |
| Gene_locus related to this paper: human-PNLIP |
| Title : [Chronic steatorrhea in children due to a congenital insufficiency of pancreatic lipase] - |
| Author(s) : Verger P , Babin R , Guillard JM , Babin JP , Cixous P , Laigle JL |
| Ref : Arch Fr Pediatr , 28 :992 , 1971 |
| PubMedID: 5144703 |
| Gene_locus related to this paper: human-PNLIP |
| Title : [Chronic diarrhea due to pancreatic lipase deficiency] - |
| Author(s) : Larbre F , Hartemann E , Cotton JB , Mathieu M , Charrat A , Moreau P |
| Ref : Pediatrie , 24 :807 , 1969 |
| PubMedID: 5366614 |
| Gene_locus related to this paper: human-PNLIP |
| Title : CONGENITAL PANCREATIC LIPASE DEFICIENCY - |
| Author(s) : Sheldon W |
| Ref : Arch Dis Child , 39 :268 , 1964 |
| PubMedID: 14169458 |
| Gene_locus related to this paper: human-PNLIP |