Reviewed, UniProtKB/Swiss-Prot P06858 (LIPL_HUMAN)

Names and origin

Protein names

Recommended name:
    Lipoprotein lipase
      Short name=LPL
    EC=3.1.1.34

Gene names

Name:	LPL
Synonyms:	LIPD

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	475 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL). The enzyme functions in the presence of apolipoprotein C-2 on the luminal surface of vascular endothelium.
Catalytic activity	Triacylglycerol + H2O = diacylglycerol + a carboxylate.
Subunit structure	Homodimer. Interacts with apolipoprotein C-2. Interacts with GPIHBP1. Ref.10
Subcellular location	Cell membrane; Lipid-anchor › GPI-anchor. Secreted.
Involvement in disease	Defects in LPL are a cause of familial chylomicronemia [MIM:238600]; also known as hyperlipoproteinemia type I. Familial chylomicronemia is a recessive disorder usually manifesting in childhood. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis. Defects in LPL are the cause of lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]. LPL deficiency leads to hypertriglyceridemia.
Sequence similarities	Belongs to the AB hydrolase superfamily. Lipase family. Contains 1 PLAT domain.

Ontologies

Keywords
Biological process	Lipid degradation
Cellular component	Cell membrane Chylomicron Membrane Secreted VLDL
Coding sequence diversity	Polymorphism
Disease	Disease mutation Hyperlipidemia
Domain	Signal
Ligand	Heparin-binding
Molecular function	Hydrolase
PTM	Disulfide bond GPI-anchor Glycoprotein Lipoprotein
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	chylomicron remodeling Inferred by curator. Source: UniProtKB fatty acid biosynthetic process Inferred from direct assay. Source: UniProtKB phospholipid metabolic process Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of cholesterol storage Inferred from mutant phenotype. Source: UniProtKB positive regulation of foam cell differentiation Inferred by curator. Source: UniProtKB positive regulation of sequestering of triglyceride Inferred from mutant phenotype. Source: UniProtKB triglyceride catabolic process Inferred from direct assay. Source: UniProtKB very-low-density lipoprotein particle remodeling Inferred from direct assay. Source: UniProtKB
Cellular component	anchored to membrane Inferred from electronic annotation. Source: UniProtKB-KW chylomicron Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell very-low-density lipoprotein particle Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	heparin binding Ref.15 Inferred from direct assay. Source: UniProtKB lipoprotein lipase activity Inferred from direct assay. Source: UniProtKB phospholipase activity Inferred from sequence or structural similarity. Source: UniProtKB receptor binding Inferred from physical interaction. Source: UniProtKB triacylglycerol lipase activity Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 27	27	Ref.8
	Chain	28 – 475	448	Lipoprotein lipase		PRO_0000017775
Regions
	Domain	341 – 464	124	PLAT
	Region	319 – 331	13	Heparin-binding Potential
Sites
	Active site	159	1	Nucleophile
	Active site	183	1	Charge relay system
	Active site	268	1	Charge relay system
Amino acid modifications
	Glycosylation	70	1	N-linked (GlcNAc...) Ref.11
	Glycosylation	386	1	N-linked (GlcNAc...) Potential
	Disulfide bond	54 ↔ 67		By similarity
	Disulfide bond	243 ↔ 266		By similarity
	Disulfide bond	291 ↔ 310		By similarity
	Disulfide bond	302 ↔ 305		By similarity
	Disulfide bond	445 ↔ 465		By similarity
Natural variations
	Natural variant	36	1	D → N Associated with hyperlipidemia; has approximately 80% of the specific activity of wild-type enzyme. dbSNP rs1801177.		VAR_011948
	Natural variant	70	1	N → S in LPL deficiency; produces an inactive protein which is not secreted into the media.		VAR_057914
	Natural variant	71	1	H → Q: dbSNP rs11542065.		VAR_049819
	Natural variant	96	1	V → L in LPL deficiency; gives rise to a 80% decrease in specific catalytic activity.		VAR_057915
	Natural variant	98	1	A → T in hypertriglyceridaemia; decreases the specific activity of the enzyme; reduces the secretion of the mutant protein significantly; the total LPL mass is reduced compared to that of the wild-type construct.		VAR_057916
	Natural variant	102	1	R → S in LPL deficiency.		VAR_004211
	Natural variant	113	1	W → G in chylomicronemia. Ref.24 Ref.30		VAR_004212
	Natural variant	113	1	W → R in chylomicronemia. Ref.24 Ref.30		VAR_004213
	Natural variant	128	1	T → A in chylomicronemia.		VAR_057917
	Natural variant	132	1	G → R in chylomicronemia; synthesized as a catalytically inactive form.		VAR_057918
	Natural variant	163	1	H → R in chylomicronemia. Ref.30		VAR_004214
	Natural variant	169	1	G → E in chylomicronemia; loss of activity. Ref.20		VAR_004215
	Natural variant	181	1	G → S in chylomicronemia. Ref.35		VAR_004216
	Natural variant	181	1	G → V in LPL deficiency; synthesized as a catalytically inactive form.		VAR_057919
	Natural variant	183	1	D → G in chylomicronemia; loss of activity. Ref.27 Ref.19		VAR_004217
	Natural variant	183	1	D → H in LPL deficiency.		VAR_057920
	Natural variant	183	1	D → N in chylomicronemia; loss of activity. Ref.27 Ref.19		VAR_004218
	Natural variant	184	1	P → R in chylomicronemia; Nijmegen; loss of activity. Ref.25		VAR_004219
	Natural variant	185	1	A → T in chylomicronemia; 3.2% of activity.		VAR_004220
	Natural variant	186	1	G → E in LPL deficiency.		VAR_057921
	Natural variant	190	1	E → G in chylomicronemia.		VAR_057922
	Natural variant	199	1	S → C in LPL deficiency; mild hypertriglyceridemia; partial activity.		VAR_004221
	Natural variant	201	1	D → V in hypertriglyceridemia.		VAR_057923
	Natural variant	203	1	A → T in chylomicronemia; Bethesda; loss of activity and abnormal heparin binding. Ref.17		VAR_004222
	Natural variant	207	1	D → E in chylomicronemia. Ref.32		VAR_004223
	Natural variant	208	1	V → I in hypertriglyceridaemia; decreases the specific activity of the enzyme; has a mild effect on the secretion of the mutant enzyme; the total LPL mass is reduced compared to that of the wild-type construct.		VAR_057924
	Natural variant	210	1	H → D in hypertriglyceridaemia; complete loss of enzyme activity.		VAR_057925
	Natural variant	210	1	H → Q in chylomicronemia; loss of activity.		VAR_004224
	Natural variant	215	1	G → E in chylomicronemia; loss of activity. Ref.30 Ref.15 Ref.16 Ref.29 Ref.54		VAR_004225
	Natural variant	215	1	G → R in chylomicronemia.		VAR_057926
	Natural variant	220	1	S → R in chylomicronemia; 2.0% of activity.		VAR_004226
	Natural variant	221	1	I → T in chylomicronemia; loss of activity. Ref.30 Ref.21 Ref.18		VAR_004227
	Natural variant	222	1	G → E in LPL deficiency.		VAR_004228
	Natural variant	225	1	K → R in hyperlipidemia.		VAR_057927
	Natural variant	227	1	V → A in hyperlipidemia.		VAR_057928
	Natural variant	231	1	D → E in chylomicronemia; loss of activity. Ref.22		VAR_004229
	Natural variant	232	1	I → S in chylomicronemia. Ref.30		VAR_004230
	Natural variant	234	1	P → L in LPL deficiency; loss of activity.		VAR_004231
	Natural variant	243	1	C → S in chylomicronemia; loss of activity. Ref.27		VAR_004232
	Natural variant	252	1	I → T in chylomicronemia.		VAR_057929
	Natural variant	266	1	C → W in chylomicronemia.		VAR_057930
	Natural variant	270	1	R → C in chylomicronemia.		VAR_057931
	Natural variant	270	1	R → H in chylomicronemia; loss of activity. Ref.29 Ref.18 Ref.22		VAR_004233
	Natural variant	271	1	S → T in chylomicronemia. Ref.14		VAR_004234
	Natural variant	277	1	D → N in chylomicronemia; 5% of full activity. Ref.29 Ref.26 Ref.45		VAR_004235
	Natural variant	278	1	S → C in chylomicronemia.		VAR_004236
	Natural variant	279	1	L → R in hypertriglyceridaemia; decreases the specific activity of the enzyme; the total LPL mass is reduced compared to that of the wild-type construct.		VAR_057932
	Natural variant	279	1	L → V in hypertriglyceridaemia; decreases the specific activity of the enzyme; the total LPL mass is reduced compared to that of the wild-type construct.		VAR_057933
	Natural variant	286	1	S → G in chylomicronemia. Ref.54 Ref.49		VAR_004237
	Natural variant	286	1	S → R in chylomicronemia. Ref.54 Ref.49		VAR_004238
	Natural variant	288	1	A → T Associated with LPL deficiency; the LPL mass level is approximately 67% of the normal; the activity is 32% of the nornal. dbSNP rs1800011.		VAR_011949
	Natural variant	289	1	Y → H in LPL deficiency; no enzyme activity.		VAR_057934
	Natural variant	297	1	F → L in LPL deficiency and hyperlipidemia; synthesized as a catalytically inactive form; total amount is almost equal to that of the normal enzyme; non-releasable by heparin due to the abnormal structure of the mutant protein.		VAR_057935
	Natural variant	303	1	L → F in LPL deficiency; approximately 6% of normal LPL activity and 40% of LPL mass are detected in the patient's postheparin plasma; results in the production of a functionally inactive enzyme.		VAR_057936
	Natural variant	305	1	C → R in hyperlipidemia.		VAR_057937
	Natural variant	310	1	C → Y in hypertriglyceridaemia; decreases the specific activity of the enzyme; reduces the secretion of the mutant protein significantly; the total LPL mass is reduced compared to that of the wild-type construct.		VAR_057938
	Natural variant	313	1	L → P in chylomicronemia.		VAR_057939
	Natural variant	318	1	N → S in LPL deficiency; loss of activity; frequent mutation. dbSNP rs268.		VAR_004239
	Natural variant	325	1	S → R in hypertriglyceridaemia; has no effect on the specific activity of the enzyme; has a mild effect on the secretion of the mutant enzyme; the total LPL mass is reduced compared to that of the wild-type construct.		VAR_057940
	Natural variant	328	1	M → R in hypertriglyceridaemia.		VAR_057941
	Natural variant	328	1	M → T in chylomicronemia.		VAR_004240
	Natural variant	330	1	L → F in hyperlipidemia.		VAR_057942
	Natural variant	330	1	L → P in chylomicronemia.		VAR_004241
	Natural variant	361	1	A → T in chylomicronemia. Ref.31		VAR_004242
	Natural variant	365	1	S → F in hypertriglyceridaemia; increases the specific activity of the enzyme; has a mild effect on the secretion of the mutant enzyme; the total LPL mass is reduced compared to that of the wild-type construct.		VAR_057943
	Natural variant	370	1	V → M: dbSNP rs298. Ref.56		VAR_011950
	Natural variant	379	1	T → A: dbSNP rs300. Ref.56		VAR_011951
	Natural variant	392	1	L → V in LPL deficiency; loss of activity.		VAR_004243
	Natural variant	423 – 424	2	Missing in chylomicronemia; affects the protein folding.		VAR_004244
	Natural variant	427	1	A → T: dbSNP rs5934. Ref.57		VAR_011952
	Natural variant	437	1	E → K in chylomicronemia. Ref.45 Ref.41		VAR_004245
	Natural variant	437	1	E → V in chylomicronemia. Ref.45 Ref.41		VAR_004246
	Natural variant	445	1	C → Y in chylomicronemia; has 48% of normal activity in vitro; decreased levels of activity account for by the lower protein mass levels of the mutants rather than by decreased enzymatic activities.		VAR_057944
	Natural variant	448	1	E → K in LPL deficiency; results in a moderate reduction in catalytic activity.		VAR_057945
Experimental info
	Mutagenesis	159	1	S → G: Lacks both triolein and tributyrin esterase activities.
	Mutagenesis	159	1	S → T: Lacks both triolein and tributyrin esterase activities.
	Mutagenesis	183	1	D → G: Lacks both triolein and tributyrin esterase activities.
	Mutagenesis	183	1	D → N: Lacks both triolein and tributyrin esterase activities.
	Mutagenesis	268	1	H → G: Lacks both triolein and tributyrin esterase activities.
	Mutagenesis	268	1	H → Q: Lacks both triolein and tributyrin esterase activities.

Sequences

	Sequence		Length	Mass (Da)
	P06858-1 [UniParc]. Last modified January 1, 1988. Version 1. Checksum: FBD00FCD334FB8AA	FASTA	475	53,162
	10 20 30 40 50 60 MESKALLVLT LAVWLQSLTA SRGGVAAADQ RRDFIDIESK FALRTPEDTA EDTCHLIPGV 70 80 90 100 110 120 AESVATCHFN HSSKTFMVIH GWTVTGMYES WVPKLVAALY KREPDSNVIV VDWLSRAQEH 130 140 150 160 170 180 YPVSAGYTKL VGQDVARFIN WMEEEFNYPL DNVHLLGYSL GAHAAGIAGS LTNKKVNRIT 190 200 210 220 230 240 GLDPAGPNFE YAEAPSRLSP DDADFVDVLH TFTRGSPGRS IGIQKPVGHV DIYPNGGTFQ 250 260 270 280 290 300 PGCNIGEAIR VIAERGLGDV DQLVKCSHER SIHLFIDSLL NEENPSKAYR CSSKEAFEKG 310 320 330 340 350 360 LCLSCRKNRC NNLGYEINKV RAKRSSKMYL KTRSQMPYKV FHYQVKIHFS GTESETHTNQ 370 380 390 400 410 420 AFEISLYGTV AESENIPFTL PEVSTNKTYS FLIYTEVDIG ELLMLKLKWK SDSYFSWSDW 430 440 450 460 470 WSSPGFAIQK IRVKAGETQK KVIFCSREKV SHLQKGKAPA VFVKCHDKSL NKKSG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human lipoprotein lipase complementary DNA sequence." Wion K.L., Kirchgessner T.G., Lusis A.J., Schotz M.C., Lawn R.M. Science 235:1638-1641(1987) [PubMed: 3823907] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Nucleotide sequence of human cDNA coding for a lipoprotein lipase (LPL) cloned from placental cDNA library." Gotoda T., Senda M., Gamou T., Furuichi Y., Oka K. Nucleic Acids Res. 17:2351-2352(1989) [PubMed: 2701938] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Placenta.
[3]	"DNA sequence of lipoprotein lipase cDNA cloned from human monocytic leukemia THP-1 cells." Takagi A., Ikeda Y., Yamamoto A. Nucleic Acids Res. 18:6436-6436(1990) [PubMed: 2243796] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"The lipoprotein lipase-encoding human gene: sequence from intron-6 to intron-9 and presence in intron-7 of a 40-million-year-old Alu sequence." Chuat J.-C., Raisonnier A., Etienne J., Galibert F. Gene 110:257-261(1992) [PubMed: 1537564] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-318.
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-318. Tissue: Brain.
[7]	"Characterization of the human lipoprotein lipase (LPL) promoter: evidence of two cis-regulatory regions, LP-alpha and LP-beta, of importance for the differentiation-linked induction of the LPL gene during adipogenesis." Enerbaeck S., Ohlsson B.G., Samuelsson L., Bjursell G. Mol. Cell. Biol. 12:4622-4633(1992) [PubMed: 1406652] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-5.
[8]	"Rapid and simple isolation procedure for lipoprotein lipase from human milk." Zechner R. Biochim. Biophys. Acta 1044:20-25(1990) [PubMed: 2340307] [Abstract] Cited for: PROTEIN SEQUENCE OF 28-44. Tissue: Milk.
[9]	"Human lipoprotein lipase. Analysis of the catalytic triad by site-directed mutagenesis of Ser-132, Asp-156, and His-241." Emmerich J., Beg O.U., Peterson J., Previato L., Brunzell J.D., Brewer H.B. Jr., Santamarina-Fojo S. J. Biol. Chem. 267:4161-4165(1992) [PubMed: 1371284] [Abstract] Cited for: MUTAGENESIS OF SER-159; ASP-183 AND HIS-268.
[10]	"Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution." Gin P., Beigneux A.P., Davies B., Young M.F., Ryan R.O., Bensadoun A., Fong L.G., Young S.G. Biochim. Biophys. Acta 1771:1464-1468(2007) [PubMed: 17997385] [Abstract] Cited for: INTERACTION WITH GPIHBP1.
[11]	"Identification of N-linked glycoproteins in human milk by hydrophilic interaction liquid chromatography and mass spectrometry." Picariello G., Ferranti P., Mamone G., Roepstorff P., Addeo F. Proteomics 8:3833-3847(2008) [PubMed: 18780401] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-70, MASS SPECTROMETRY. Tissue: Milk.
[12]	"Lipoprotein lipase. Molecular model based on the pancreatic lipase X-ray structure: consequences for heparin binding and catalysis." van Tilbeurgh H., Roussel A., Lalouel J.-M., Cambillau C. J. Biol. Chem. 269:4626-4633(1994) [PubMed: 8308035] [Abstract] Cited for: 3D-STRUCTURE MODELING.
[13]	"Genetic variants affecting human lipoprotein and hepatic lipases." Hayden M.R., Ma Y., Brunzell J., Henderson H.E. Curr. Opin. Lipidol. 2:104-109(1991) Cited for: REVIEW ON VARIANTS.
[14]	"Compound heterozygote for lipoprotein lipase deficiency: Ser-->Thr244 and transition in 3' splice site of intron 2 (AG-->AA) in the lipoprotein lipase gene." Hata A., Emi M., Luc G., Basdevant A., Gambert P., Iverius P.-H., Lalouel J.-M. Am. J. Hum. Genet. 47:721-726(1990) [PubMed: 2121025] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA THR-271.
[15]	"Missense mutation (Gly-->Glu188) of human lipoprotein lipase imparting functional deficiency." Emi M., Wilson D.E., Iverius P.H., Wiu L., Hata A., Hegele R., Williams R.R., Lalouel J.-M. J. Biol. Chem. 265:5910-5916(1990) [PubMed: 1969408] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA GLU-215.
[16]	"A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries." Monsalve M.V., Henderson H., Roederer G., Julien P., Deeb S., Kastelein J.J.P., Peritz L., Devlin R., Bruin T., Murthy M.R.V., Gagne C., Davignon J., Lupien P.J., Brunzell J.D., Hayden M.R. J. Clin. Invest. 86:728-734(1990) [PubMed: 1975597] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA GLU-215.
[17]	"Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176-->Thr) leads to abnormal heparin binding and loss of enzymic activity." Beg O.U., Meng M.S., Skarlatos S.I., Previato L., Brunzell J.D., Brewer H.B. Jr., Fojo S.S. Proc. Natl. Acad. Sci. U.S.A. 87:3474-3478(1990) [PubMed: 2110364] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA THR-203.
[18]	"Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome." Dichek H.L., Fojo S.S., Beg O.U., Skarlatos S.I., Brunzell J.D., Cutler G.B. Jr., Brewer H.B. Jr. J. Biol. Chem. 266:473-477(1991) [PubMed: 1702428] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA THR-221 AND HIS-270.
[19]	"Catalytic triad residue mutation (Asp156-->Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447-->Ter) in a Turkish family." Faustinella F., Chang A., van Biervliet J.P., Rosseneu M., Vinaimont N., Smith L.C., Chen S.-H., Chan L. J. Biol. Chem. 266:14418-14424(1991) [PubMed: 1907278] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA GLY-183.
[20]	"Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene." Ameis D., Kobayashi J., Davis R.C., Ben-Zeev O., Malloy M.J., Kane J.P., Lee G., Wong H., Havel R.J., Schotz M.C. J. Clin. Invest. 87:1165-1170(1991) [PubMed: 2010533] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA GLU-169.
[21]	"Amino acid substitution (Ile194-->Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin." Henderson H.E., Ma Y., Hassan F., Monsalve M.V., Marais A.D., Winkler F., Gubernator K., Peterson J., Brunzell J.D., Hayden M.R. J. Clin. Invest. 87:2005-2011(1991) [PubMed: 1674945] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA THR-221.
[22]	"Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency." Gotoda T., Yamada N., Kawamura M., Kozaki K., Mori N., Ishibashi S., Shimano H., Takaku F., Yazaki Y., Furuichi Y., Murase T. J. Clin. Invest. 88:1856-1864(1991) [PubMed: 1752947] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA GLU-231 AND HIS-270, CHARACTERIZATION OF VARIANTS LPL DEFICIENCY GLU-231 AND HIS-270.
[23]	"A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians." Ma Y., Henderson H.E., Ven Murthy M.R., Roederer G., Monsalve M.V., Clarke L.A., Normand T., Julien P., Gagne C., Lambert M., Davignon J., Lupien P.J., Brunzell J., Hayden M.R. N. Engl. J. Med. 324:1761-1766(1991) [PubMed: 2038366] [Abstract] Cited for: VARIANT LPL DEFICIENCY LEU-234.
[24]	"A missense mutation (Trp86-->Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia." Ishimura-Oka K., Faustinella F., Kihara S., Smith L.C., Oka K., Chan L. Am. J. Hum. Genet. 50:1275-1280(1992) [PubMed: 1598907] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA ARG-113.
[25]	"A missense mutation Pro157Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity." Bruin T., Kastelein J.J., van Diermen D.E., Ma Y., Henderson H.E., Stuyt P.M., Stalenhoef A.F.H., Sturk A., Brunzell J.D., Hayden M.R. Eur. J. Biochem. 208:267-272(1992) [PubMed: 1521525] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA ARG-184.
[26]	"A missense mutation (Asp250-->Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries." Ma Y., Wilson B.I., Bijvoet S., Henderson H.E., Cramb E., Roederer G., Ven Murthy M.R., Julien P., Bakker H.D., Kastelein J.J., Brunzell J.D., Hayden M.R. Genomics 13:649-653(1992) [PubMed: 1639392] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA ASN-277.
[27]	"Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis." Ma Y.H., Bruin T., Tuzgol S., Wilson B.I., Roederer G., Liu M.S., Davignon J., Kastelein J.J., Brunzell J.D., Hayden M.R. J. Biol. Chem. 267:1918-1923(1992) [PubMed: 1730727] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA ASN-183; GLY-183 AND SER-243.
[28]	"Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization." Hata A., Ridinger D.N., Sutherland S.D., Emi M., Kwong L.K., Shuhua J., Lubbers A., Guy-Grand B., Basdevant A., Iverius P.H., Wilson D.E., Lalouel J.-M. J. Biol. Chem. 267:20132-20139(1992) [PubMed: 1400331] [Abstract] Cited for: VARIANT LPL DEFICIENCY GLU-222.
[29]	"A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency." Ishimura-Oka K., Semenkovich C.F., Faustinella F., Goldberg I.J., Shachter N., Smith L.C., Coleman T., Hide W.A., Brown W.V., Oka K. J. Lipid Res. 33:745-754(1992) [PubMed: 1619366] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA GLU-215; HIS-270 AND ASN-277.
[30]	"Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes." Reina M., Brunzell J.D., Deeb S.S. J. Lipid Res. 33:1823-1832(1992) [PubMed: 1479292] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA ARG-113; ARG-163; GLU-215; THR-221 AND SER-232.
[31]	"A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia." Kobayashi J., Sasaki N., Tashiro J., Inadera H., Saito Y., Yoshida S. Biochem. Biophys. Res. Commun. 191:1046-1054(1993) [PubMed: 8096693] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA THR-361.
[32]	"A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia)." Haubenwallner S., Horl G., Shachter N.S., Presta E., Fried S.K., Hofler G., Kostner G.M., Breslow J.L., Zechner R. Genomics 18:392-396(1993) [PubMed: 8288243] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA GLU-207.
[33]	"Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene." Ma Y., Liu M.-S., Ginzinger D., Frohlich J., Brunzell J.D., Hayden M.R. J. Clin. Invest. 91:1953-1958(1993) [PubMed: 8486765] [Abstract] Cited for: VARIANT LPL DEFICIENCY CYS-199.
[34]	"Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes." Wilson D.E., Hata A., Kwong L.K., Lingam A., Shuhua J., Ridinger D.N., Yeager C., Kaltenborn K.C., Iverius P.-H., Lalouel J.-M. J. Clin. Invest. 92:203-211(1993) [PubMed: 8325986] [Abstract] Cited for: VARIANT LPL DEFICIENCY SER-102.
[35]	"Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase." Bruin T., Tuzgol S., van Diermen D.E., Hoogerbrugge-Van der Linden N., Brunzell J.D., Hayden M.R., Kastelein J.J. J. Lipid Res. 34:2109-2119(1993) [PubMed: 8301230] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA SER-181.
[36]	"A new Italian case of lipoprotein lipase deficiency: a Leu365-> Val change resulting in loss of enzyme activity." Chimienti G.P.G., Resta F., di Perma V., Tarricone C., Lovecchio M., Collacicco A.M., Capurso A. Biochem. Biophys. Res. Commun. 199:570-576(1994) [PubMed: 8135797] [Abstract] Cited for: VARIANT LPL DEFICIENCY VAL-392.
[37]	"A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion." Kobayashi J., Inadera H., Fujita Y., Talley G., Morisaki N., Yoshida S., Saito Y., Fojo S.S., Brewer H.B. Jr. Biochem. Biophys. Res. Commun. 205:506-515(1994) [PubMed: 7999071] [Abstract] Cited for: VARIANT LPL DEFICIENCY SER-70, CHARACTERIZATION OF VARIANT LPL DEFICIENCY SER-70.
[38]	"Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries." Ma Y., Liu M.-S., Chitayat D., Bruin T., Beisiegel U., Benlian P., Foubert L., De Gennes J.L., Funke H., Forsythe I., Blaichman S., Papanikolaou M., Erkelens D.W., Kastelein J., Brunzell J.D., Hayden M.R. Hum. Mutat. 3:52-58(1994) [PubMed: 7906986] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA HIS-270 AND CYS-270.
[39]	"A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression." Bruin T., Tuzgoel S., Mulder W.J., van den Ende A.E., Jansen H., Hayden M.R., Kastelein J.J.P. J. Lipid Res. 35:438-445(1994) [PubMed: 7912254] [Abstract] Cited for: VARIANTS LPL DEFICIENCY LEU-96 AND GLU-215, CHARACTERIZATION OF VARIANT LPL DEFICIENCY LEU-96.
[40]	"High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform." Ma Y., Ooi T.C., Liu M.-S., Zhang H., McPherson R., Edwards A.L., Forsythe I.J., Frohlich J., Brunzell J.D., Hayden M.R. J. Lipid Res. 35:1066-1075(1994) [PubMed: 8077845] [Abstract] Cited for: VARIANTS LPL DEFICIENCY CYS-199; ARG-279; THR-288 AND SER-318, CHARACTERIZATION OF VARIANTS ARG-279 AND THR-288.
[41]	"A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia." Previato L., Guardamagna O., Dugi K.A., Ronan R., Talley G.D., Santamarina-Fojo S., Brewer H.B. Jr. J. Lipid Res. 35:1552-1560(1994) [PubMed: 7806969] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA VAL-437.
[42]	"A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis." Reymer P.W.A., Gagne E., Groenemeyer B.E., Zhang H., Forsyth I., Jansen H., Seidell J.C., Kromhout D., Lie K.E., Kastelein J.J., Hayden M.R. Nat. Genet. 10:28-34(1995) [PubMed: 7647785] [Abstract] Cited for: VARIANT LPL DEFICIENCY SER-318.
[43]	"A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase." Henderson H.E., Hassan F., Marais D., Hayden M.R. Biochem. Biophys. Res. Commun. 227:189-194(1996) [PubMed: 8858123] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA TYR-445, CHARACTERIZATION OF VARIANT CHYLOMICRONEMIA TYR-445.
[44]	"Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia." de Bruin T.W.A., Mailly F., van Barlingen H.H.J.J., Fisher R., Castro Cabezas M., Talmud P., Dallinga-Thie G.M., Humphries S.E. Eur. J. Clin. Invest. 26:631-639(1996) [PubMed: 8872057] [Abstract] Cited for: VARIANT LPL DEFICIENCY SER-318, VARIANT ASN-36.
[45]	"Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia." Wiebusch H., Funke H., Bruin T., Bucher H., von Eckardstein A., Kastelein J.J.P., Assmann G. Hum. Mutat. 8:381-383(1996) [PubMed: 8956048] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA ASN-277 AND LYS-437.
[46]	"A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia." Wiebusch H., Funke H., Santer R., Richter W., Assmann G. Hum. Mutat. 8:392-392(1996) [PubMed: 8956052] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA GLY-190 AND GLU-215.
[47]	"Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His)." Rouis M., Lohse P., Dugi K.A., Lohse P., Beg O.U., Ronan R., Talley G.D., Brunzell J.D., Santamarina-Fojo S. J. Lipid Res. 37:651-661(1996) [PubMed: 8728326] [Abstract] Cited for: VARIANT LPL DEFICIENCY HIS-289, VARIANT ASN-36, CHARACTERIZATION OF VARIANT LPL DEFICIENCY HIS-289, CHARACTERIZATION OF VARIANT ASN-36.
[48]	"Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene." Benlian P., De Gennes J.L., Foubert L., Zhang H., Gagne S.E., Hayden M. N. Engl. J. Med. 335:848-854(1996) [PubMed: 8778602] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA ALA-128; GLU-215; ARG-215; CYS-270; ASN-277 AND PRO-313.
[49]	"A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry." Foubert L., Bruin T., de Gennes J.-L., Ehrenborg E., Furioli J., Kastelein J.J., Benlian P., Hayden M.R. Hum. Mutat. 10:179-185(1997) [PubMed: 9298816] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA ARG-286.
[50]	"Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy." Mailly F., Palmen J., Muller D.P.R., Gibbs T., Lloyd J., Brunzell J., Durrington P., Mitropoulos K., Betteridge J., Watts G., Lithell H., Angelico F., Humphries S.E., Talmud P.J. Hum. Mutat. 10:465-473(1997) [PubMed: 9401010] [Abstract] Cited for: VARIANTS.
[51]	"Assessment of French patients with LPL deficiency for French Canadian mutations." Foubert L., De Gennes J.L., Lagarde J.P., Ehrenborg E., Raisonnier A., Girardet J.P., Hayden M.R., Benlian P. J. Med. Genet. 34:672-675(1997) [PubMed: 9279761] [Abstract] Cited for: VARIANTS LPL DEFICIENCY ALA-128; HIS-183; GLU-215; ARG-215; LEU-234; CYS-270 AND ASN-277.
[52]	"Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event." Henderson H.E., Bijvoet S.M., Mannens M.A.M.M., Bruin T., Erkelens D.W., Hayden M.R., Kastelein J.J.P. Am. J. Med. Genet. 78:313-316(1998) [PubMed: 9714430] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA THR-252 AND HIS-270.
[53]	"A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis." Henderson H., Leisegang F., Hassan F., Hayden M., Marais D. Clin. Chim. Acta 269:1-12(1998) [PubMed: 9498099] [Abstract] Cited for: VARIANT LPL DEFICIENCY LYS-448, CHARACTERIZATION OF VARIANT LPL DEFICIENCY LYS-448.
[54]	"Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LPL) as a cause of chylomicronemia." Evans D., Wendt D., Ahle S., Guerra A., Beisiegel U. Hum. Mutat. 12:217-217(1998) [PubMed: 10660334] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA GLU-215 AND GLY-286.
[55]	"Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects." Zhang Q., Liu Y., Liu B.W., Fan P., Cavanna J., Galton D.J. Mol. Genet. Metab. 64:177-183(1998) [PubMed: 9719626] [Abstract] Cited for: VARIANT LPL DEFICIENCY SER-318, VARIANTS ASN-36 AND THR-288.
[56]	"DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene." Nickerson D.A., Taylor S.L., Weiss K.M., Clark A.G., Hutchinson R.G., Stengaerd J., Salomaa V., Vartiainen E., Boerwinkle E., Sing C.F. Nat. Genet. 19:233-240(1998) [PubMed: 9662394] [Abstract] Cited for: VARIANT LPL DEFICIENCY SER-318, VARIANTS MET-370 AND ALA-379.
[57]	"Characterization of single-nucleotide polymorphisms in coding regions of human genes." Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S. Nat. Genet. 22:231-238(1999) [PubMed: 10391209] [Abstract] Cited for: VARIANT THR-427.
[58]	Erratum Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S. Nat. Genet. 23:373-373(1999)
[59]	"A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency." Takagi A., Ikeda Y., Takeda E., Yamamoto A. Biochim. Biophys. Acta 1502:433-446(2000) [PubMed: 11068186] [Abstract] Cited for: VARIANT LPL DEFICIENCY LEU-297, CHARACTERIZATION OF VARIANT LPL DEFICIENCY LEU-297.
[60]	"A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia." Ikeda Y., Goji K., Takagi A. Clin. Sci. 99:569-578(2000) [PubMed: 11099402] [Abstract] Cited for: VARIANTS CHYLOMICRONEMIA ARG-132 AND GLU-231, CHARACTERIZATION VARIANTS CHYLOMICRONEMIA ARG-132 AND GLU-231.
[61]	"Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis." Hoffmann M.M., Jacob S., Luft D., Schmuelling R.-M., Rett K., Maerz W., Haering H.-U., Matthaei S. J. Clin. Endocrinol. Metab. 85:4795-4798(2000) [PubMed: 11134145] [Abstract] Cited for: VARIANT CHYLOMICRONEMIA TRP-266.
[62]	"Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23." Hoelzl B., Kraft H.G., Wiebusch H., Sandhofer A., Patsch J., Sandhofer F., Paulweber B. J. Lipid Res. 41:734-741(2000) [PubMed: 10787434] [Abstract] Cited for: VARIANT HYPERTRIGLYCERIDAEMIA ASP-210, CHARACTERIZATION OF VARIANT HYPERTRIGLYCERIDAEMIA ASP-210.
[63]	"Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8." Ikeda Y., Takagi A., Nakata Y., Sera Y., Hyoudou S., Hamamoto K., Nishi Y., Yamamoto A. J. Lipid Res. 42:1072-1081(2001) [PubMed: 11441134] [Abstract] Cited for: VARIANT LPL DEFICIENCY VAL-181, CHARACTERIZATION OF VARIANT LPL DEFICIENCY VAL-181.
[64]	"Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia." Chan L.Y.S., Lam C.-W., Mak Y.-T., Tomlinson B., Tsang M.-W., Baum L., Masarei J.R.L., Pang C.-P. Hum. Mutat. 20:232-233(2002) [PubMed: 12204001] [Abstract] Cited for: VARIANTS HYPERTRIGLYCERIDAEMIA THR-98; ILE-208; VAL-279; ARG-279; TYR-310; ARG-325 AND PHE-365, CHARACTERIZATION OF VARIANTS THR-98; ILE-208; VAL-279; ARG-279; TYR-310; ARG-325 AND PHE-365.
[65]	"Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis." Saika Y., Sakai N., Takahashi M., Maruyama T., Kihara S., Ouchi N., Ishigami M., Hiraoka H., Nakamura T., Yamashita S., Matsuzawa Y. Eur. J. Clin. Invest. 33:216-222(2003) [PubMed: 12641539] [Abstract] Cited for: VARIANT LPL DEFICIENCY PHE-303, CHARACTERIZATION OF VARIANT LPL DEFICIENCY PHE-303.
[66]	"Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors." Morabia A., Cayanis E., Costanza M.C., Ross B.M., Flaherty M.S., Alvin G.B., Das K., Gilliam T.C. Hum. Mol. Genet. 12:2733-2743(2003) [PubMed: 12966036] [Abstract] Cited for: VARIANT LPL DEFICIENCY SER-318, VARIANT ASN-36.
[67]	"Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method." Abifadel M., Jambart S., Allard D., Rabes J.-P., Varret M., Derre A., Chouery E., Salem N., Junien C., Aydenian H., Boileau C. Clin. Genet. 65:158-161(2004) [PubMed: 14984478] [Abstract] Cited for: VARIANT HYPERTRIGLYCERIDEMIA VAL-201.
[68]	"Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study." Kavazarakis E., Stabouli S., Gourgiotis D., Roumeliotou K., Traeger-Synodinos J., Bossios A., Fretzayas A., Kanavakis E. Eur. J. Pediatr. 163:462-466(2004) [PubMed: 15185149] [Abstract] Cited for: VARIANTS HYPERTRIGLYCERIDAEMIA GLU-215 AND ARG-328.
[69]	"Mutations in Japanese subjects with primary hyperlipidemia -- results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996." The Research Commitee on primary hyperlipidemia of the Ministery of Health and Welfare of Japan Maruyama T., Yamashita S., Matsuzawa Y., Bujo H., Takahashi K., Saito Y., Ishibashi S., Ohashi K., Shionoiri F., Gotoda T., Yamada N., Kita T. J. Atheroscler. Thromb. 11:131-145(2004) [PubMed: 15256764] [Abstract] Cited for: VARIANTS HYPERLIPIDEMIA SER-70; ARG-132; VAL-181; GLU-215; THR-221; ARG-225; ALA-227; GLU-231; CYS-270; HIS-270; THR-288; LEU-297; ARG-305; PHE-330 AND THR-361.
[70]	"Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency." Santer R., Gokcay G., Demirkol M., Gal A., Lukacs Z. J. Inherit. Metab. Dis. 28:137-140(2005) [PubMed: 15877202] [Abstract] Cited for: VARIANTS LPL DEFICIENCY GLU-186; GLU-215 AND THR-221.
+	Additional computationally mapped references.

Web resources

GeneReviews

SHMPD

The Singapore human mutation and polymorphism database

Wikipedia

Lipoprotein lipase entry

Cross-references

Sequence databases
EMBLGenBankDDBJ	M15856 mRNA. Translation: AAB59536.1. X14390 mRNA. Translation: CAA32564.1. X54516 mRNA. Translation: CAA38372.1. M76722 Genomic DNA. Translation: AAA59528.1. S76076 Genomic DNA. Translation: AAB21000.1. S76077 Genomic DNA. Translation: AAB20999.1. BT006726 mRNA. Translation: AAP35372.1. BC011353 mRNA. Translation: AAH11353.1. X68111 Genomic DNA. Translation: CAA48230.1.
IPI	IPI00027847.
PIR	LIHUL. A26082.
RefSeq	NP_000228.1.
UniGene	Hs.180878
3D structure databases
HSSP	HSSP built from PDB template 1RP1 based on UniProtKB P06857.
ModBase	Search...
Protein-protein interaction databases
IntAct	P06858. 7 interactions.
PTM databases
PhosphoSite	P06858.
Proteomic databases
PRIDE	P06858.
Genome annotation databases
Ensembl	ENSG00000175445. Homo sapiens. [Contig view]
GeneID	4023.
KEGG	hsa:4023.
Organism-specific databases
GeneCards	GC08P019841.
H-InvDB	HIX0007351.
HGNC	HGNC:6677. LPL.
MIM	238600. phenotype. 609708. gene.
Orphanet	411. Hyperlipoproteinemia type 1.
PharmGKB	PA24729.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P06858.
HOVERGEN	P06858.
OMA	P06858. TVTGMYE.
Enzyme and pathway databases
BRENDA	3.1.1.34. 247.
Reactome	REACT_602. Lipid and lipoprotein metabolism.
Gene expression databases
ArrayExpress	P06858.
Bgee	P06858.
CleanEx	HS_LPL.
GermOnline	ENSG00000175445. Homo sapiens.
Family and domain databases
InterPro	IPR000734. Lipase. IPR013818. Lipase_N. IPR002330. Lipo_Lipase. IPR001024. LipOase_LH2. IPR016272. Lipoprotein_lipase_LIPH. [Graphical view]
Gene3D	G3DSA:2.60.60.20. Lipase_LipOase. 1 hit.
PANTHER	PTHR11610. Lipase. 1 hit. PTHR11610:SF3. Lipase_lipo. 1 hit.
Pfam	PF00151. Lipase. 1 hit. PF01477. PLAT. 1 hit. [Graphical view]
PIRSF	PIRSF000865. Lipoprotein_lipase_LIPH. 1 hit.
PRINTS	PR00822. LIPOLIPASE. PR00821. TAGLIPASE.
SMART	SM00308. LH2. 1 hit. [Graphical view]
TIGRFAMs	TIGR03230. lipo_lipase. 1 hit.
PROSITE	PS00120. LIPASE_SER. 1 hit. PS50095. PLAT. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00636. Clofibrate. DB01241. Gemfibrozil. DB01083. Orlistat.
NextBio	15776.
SOURCE	Search...

Entry information

Entry name

LIPL_HUMAN

Accession

Primary (citable) accession number: P06858
Secondary accession number(s): Q16282, Q16283, Q96FC4

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 1, 1988
Last sequence update:	January 1, 1988
Last modified:	June 16, 2009
This is version 124 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)