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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LPL Gene

protein-coding GIFtS: 73
GCID: GC08P019759

lipoprotein lipase

(Previous symbol: LIPD)

Explore 155 diseases affiliated with
LPL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Lipoprotein Lipase¹ ²
LIPD¹ ² ³ ⁵
EC 3.1.1.34³ ⁸
HDLCQ11² ⁵
EC 3.1.1⁸

External Ids:	HGNC: 6677¹	Entrez Gene: 4023²	Ensembl: ENSG00000175445⁷	OMIM: 609708⁵	UniProtKB: P06858³

Export aliases for LPL gene to outside databases

Previous GC identifers: GC08P019672 GC08P019859 GC08P019807 GC08P019841 GC08P018336

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LPL:

LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer,

and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein

uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations

in LPL are linked to many disorders of lipoprotein metabolism. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: LIPL_HUMAN, P06858

Function: The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very

low density lipoproteins (VLDL). Binding to heparin sulfate proteogylcans at the cell surface is vital to the

function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal

surface of vascular endothelium (By similarity)

summary for LPL:

Lipoprotein lipase (LPL), like LIPG, is a vascular lipase, however it is not synthesized in endothelial

cells. It is anchored to the capillary endothelium by proteoglycans and catalyzes the hydrolysis of

triglycerides to release free fatty acids into the circulation. LPL therefore initiates the processing of

triglyceride-rich lipoproteins such as chylomicrons and VLDL.

Gene Wiki entry for LPL (Lipoprotein lipase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_167187.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LPL gene promoter:
STAT1 Sp1 AP-1 ATF-2 Ik-2 COMP1 c-Jun NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LPL promoter sequence

Search SABiosciences Chromatin IP Primers for LPL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LPL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p22 Ensembl cytogenetic band: 8p21.3 HGNC cytogenetic band: 8p22

LPL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LPL gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P019759: view genomic region (about GC identifiers)

Start:	19,759,228 bp from pter	End:	19,824,770 bp from pter
Size:	65,543 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LIPL_HUMAN, P06858 (See protein sequence)

Recommended Name: Lipoprotein lipase precursor

Size: 475 amino acids; 53162 Da

Subunit: Homodimer (By similarity). Interacts with APOC2; the interaction activates LPL activity in the presence of

lipids. Interacts with GPIHBP1

Subcellular location: Cell membrane (By similarity); Lipid-anchor, GPI-anchor (By similarity). Secreted (By

similarity). Note=Locates to the plasma membrane of microvilli of hepatocytes with triacyl-glycerol-rich lipoproteins

(TRL). Some of the bound LPL is then internalized and located inside non-coated endocytic vesicles (By similarity)

Secondary accessions: B2R5T9 Q16282 Q16283 Q96FC4

Explore the universe of human proteins at neXtProt for LPL: NX_P06858

Post-translational modifications:

Tyrosine nitration after lipopolysaccharide (LPS) challenge down-regulates the lipase activity (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P06858

4/25 DME Specific Peptides for LPL (P06858) (see all 25)

SHLQKGK

RLSPDDA

VDWLSRA

KCSHERS

LPL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000228.1

ENSEMBL proteins:

ENSP00000428496 ENSP00000428237 ENSP00000428557 ENSP00000309757 ENSP00000431028

Reactome Protein details: P06858
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: LPL OriGene Protein Over-expression Lysate: LPL OriGene Custom Protein Services for LPL
	GenScript Custom Purified and Recombinant Proteins Services for LPL
	Novus Biologicals LPL Protein Novus Biologicals LPL Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for LPL
	Uscn Proteins for LPL

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IDA	12573449
GO:0005886	plasma membrane	IEA	--
GO:0009986	cell surface	IEA	--
GO:0031012	extracellular matrix	IEA	--

LPL for ontologies About GeneDecksing

LPL Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for LPL (Lipoprotein Lipase/LPL)
	OriGene Antibodies (see all 12): LPL OriGene Custom Antibody Services for LPL
	GenScript Superior Antibodies for LPL
	Novus Biologicals LPL Antibodies
	Abcam antibodies for LPL
	Uscn Antibodies for LPL
	ThermoFisher Antibodies for LPL

Assay Products for LPL:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for LPL
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for LPL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LPL for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR001024 LipOase_LH2

IPR008976 Lipase_LipOase

IPR000734 Lipase

IPR016272 Lipoprotein_lipase_LIPH

IPR013818 Lipase_N

Graphical View of Domain Structure for InterPro Entry P06858

ProtoNet protein and cluster: P06858

4 Blocks protein families:

IPB000734 Lipase

IPB001024 Lipoxygenase

IPB002330 Lipoprotein lipase signature

IPB008262 Lipase

UniProtKB/Swiss-Prot: LIPL_HUMAN, P06858

Similarity: Belongs to the AB hydrolase superfamily. Lipase family

Similarity: Contains 1 PLAT domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: LIPL_HUMAN, P06858

Function: The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very

low density lipoproteins (VLDL). Binding to heparin sulfate proteogylcans at the cell surface is vital to the

function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal

surface of vascular endothelium (By similarity)

Catalytic activity: Triacylglycerol + H(2)O = diacylglycerol + a carboxylate

Genatlas biochemistry entry for LPL:

lipoprotein lipase,50.4kDa,serine esterase with high homology to LIPC,PNLIP,expressed in adipocytes,striated

muscle,located on the luminal surface of capillary endothelial cells,involved in plasma lipid transport

Enzyme Numbers (IUBMB): EC 3.1.1.34¹ ² EC 3.1.1²

miRNA Products:		miRTarBase miRNAs that target LPL: hsa-mir-155 (MIRT001542), hsa-mir-138 (MIRT005491), hsa-mir-29a (MIRT005584)

		OriGene 3'-UTR Clone: LPL Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LPL
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate LPL (see all 9):
		hsa-miR-588 hsa-miR-27a hsa-miR-29a hsa-miR-29c hsa-miR-3672 hsa-miR-1303 hsa-miR-590-3p hsa-miR-27b

		SwitchGear 3'UTR luciferase reporter plasmid: LPL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LPL (see all 7) OriGene shRNA RFP: LPL OriGene siRNA: LPL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LPL

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for LPL

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LPL (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LPL (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): LPL (NM_000478)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LPL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LPL

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for LPL
		Search LifeMap BioReagents cell lines for LPL

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LPL

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004465	lipoprotein lipase activity	ISS	10727238
GO:0004620	phospholipase activity	ISS	10727238
GO:0004806	triglyceride lipase activity	ISS	10727238
GO:0005102	receptor binding	IPI	10085125
GO:0005515	protein binding	IPI	--

LPL for ontologies About GeneDecksing

5 GenomeRNAi human phenotypes for LPL:

Decreased Tat-dependent transc	Decreased p24 protein expressi	G0/1 arrest	Increased G1 DNA content
Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-outs for LPL: Lpl^tm1Sem Lpl^tm1Bres
9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Lpl):

adipose tissue	cardiovascular system	growth/size	homeostasis/metabolism	integument
liver/biliary system	mortality/aging	muscle	respiratory system

LPL for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lipoprotein metabolism

	Lipoprotein metabolism	1.00			Lipid digestion, mobilization, and transport	0.56
	Chylomicron-mediated lipid transport	0.57

Retinoid metabolism and transport

	Retinoid metabolism and transport	1.00			Diseases associated with visual transduction	0.73
	Visual phototransduction	0.74

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Statin Pathway, Pharmacodynamics

Statin Pathway, Pharmacodynamics

1.00

Statin Pathway

0.80

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

Alzheimer's disease

0.43

Alzheimers Disease

0.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/7 BioSystems Pathways for LPL (see all 7)

	Statin Pathway
	Vitamin A and carotenoid metabolism
	Adipogenesis
	SREBP signalling
	Alzheimers Disease

5/13 Reactome Pathways for LPL (see all 13)

	Diseases associated with visual transduction
	Developmental Biology
	Transcriptional Regulation of White Adipocyte Differentiation
	Metabolism
	Chylomicron-mediated lipid transport

1 PharmGKB Pathway for LPL

Statin Pathway, Pharmacodynamics

3 Kegg Pathways (Kegg details for LPL):

	Glycerolipid metabolism
	PPAR signaling pathway
	Alzheimer's disease

LPL for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LPL

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/96 Interacting proteins for LPL (P06858^{2, 3} ENSP00000309757⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 96)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C7orf55-LUC7L2	Q9Y383²^,³	MINT-63419 I2D: score=5
LUC7L2	Q9Y383²^,³	MINT-63419 I2D: score=5
ASCC2	Q9H1I8²^,³	MINT-65463 I2D: score=5
COPS6	Q7L5N1²^,³	MINT-63416 I2D: score=5
KIAA1377	Q9P2H0²^,³	MINT-63418 I2D: score=5

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	TAS	--
GO:0006633	fatty acid biosynthetic process	ISS	--
GO:0006641	triglyceride metabolic process	ISS	10727238
GO:0006644	phospholipid metabolic process	ISS	10727238
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IC	12573449

LPL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

LPL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for LPL available from Tocris Bioscience About this table

Compound	Action	CAS #
GSK 264220A	Endothelial lipase and lipoprotein lipase inhibitor	[685506-42-7]

10/1143 HMDB Compounds for LPL (see all 1143) About this table

Compound	Synonyms	CAS #	PubMed Ids
Arachidic acid	Arachate (see all 10)	506-30-9	--
Arachidonic acid	5,8,11,14-Eicosatetraenoic acid (see all 16)	506-32-1	--
DG(14:0/14:0/0:0)	DAG(14:0/14:0) (see all 9)	--	--
DG(14:0/14:1(9Z)/0:0)	DAG(14:0/14:1) (see all 15)	--	--
DG(14:0/15:0/0:0)	Diacylglycerol(29:0) (see all 9)	--	--
DG(14:0/16:0/0:0)	DAG(30:0) (see all 9)	--	--
DG(14:0/16:1(9Z)/0:0)	DG(30:1) (see all 15)	--	--
DG(14:0/18:0/0:0)	DG(14:0/18:0) (see all 9)	--	--
DG(14:0/18:1(11Z)/0:0)	Diacylglycerol (see all 15)	--	--
DG(14:0/18:1(9Z)/0:0)	1-myristoyl-2-oleoyl-sn-glycerol (see all 15)	--	--

1 DrugBank Compound for LPL About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Tyloxapol	--	25301-02-4	target	inhibitor	9406449 16839786 1493594

10/121 Novoseek chemical compound relationships for LPL gene (see all 121) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lipid	84.5	682	10727238 (6), 8908157 (4), 1466662 (3), 1401083 (3) (see all 99)
cholesterol	84.2	415	1501422 (5), 9193431 (4), 10785873 (4), 8857920 (4) (see all 99)
triacylglycerol	79	148	10403579 (4), 18751379 (4), 2375781 (3), 11971937 (3) (see all 71)
cholesterol ester	76.5	55	8645351 (4), 9627145 (3), 12919138 (2), 11284423 (2) (see all 33)
hind iii	76.4	81	16364275 (3), 18590804 (3), 1466662 (2), 15189363 (2) (see all 47)
fatty acid	74.1	215	20410100 (3), 16307734 (3), 1894793 (2), 8166251 (2) (see all 99)
heparin	71.2	378	7811745 (7), 12960955 (7), 15527497 (7), 8810923 (6) (see all 99)
asp 250	70.5	6	8973094 (1), 1619366 (1), 7706936 (1)
glycerol 3-phosphate	64.7	41	8928727 (1), 9062891 (1), 17406767 (1), 1411264 (1) (see all 26)
glucose	63.5	211	9414485 (5), 16555944 (5), 9519750 (4), 9239412 (3) (see all 99)

Search CenterWatch for drugs/clinical trials and news about LPL / LIPL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LPL gene:

NM_000237.2

Unigene Cluster for LPL:

Lipoprotein lipase

Hs.180878 [show with all ESTs]

Unigene Representative Sequence: NM_000237

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000520959 ENST00000524029 ENST00000522701 ENST00000311322(uc003wzk.4)

ENST00000519773 ENST00000521994 ENST00000523696

miRNA Products:		OriGene 3'-UTR Clone: LPL Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LPL
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate LPL (see all 9):
		hsa-miR-588 hsa-miR-27a hsa-miR-29a hsa-miR-29c hsa-miR-3672 hsa-miR-1303 hsa-miR-590-3p hsa-miR-27b

		SwitchGear 3'UTR luciferase reporter plasmid: LPL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LPL (see all 7) OriGene shRNA RFP: LPL OriGene siRNA: LPL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LPL

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LPL (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LPL (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): LPL (NM_000478)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LPL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LPL

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LPL Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat LPL
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LPL
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LPL

Additional cDNA sequence:

AK092286.1 AK222464.1 AK290290.1 AK297164.1 AK312311.1 BC011353.1 BT006726.1 CR457054.1

M15856.1 M26380.1 S78266.1 X14390.1 X54516.1

17 DOTS entries:

DT.119216 DT.101963630 DT.100807358 DT.120638148 DT.99974904 DT.120638161 DT.95073909 DT.120638185

DT.100687418 DT.100824351 DT.120638144 DT.120638147 DT.120638154 DT.120638156 DT.120638198 DT.92440268

DT.95073943

24/338 AceView cDNA sequences (see all 338):

CB269446 BE503647 BM998326 BI490837 BX433168 BQ187420 AW009950 BP348081

H27789 BE503153 BU681695 CF551941 AA349006 NM_000237 AU100389 W37182

AW300544 AU122755 CB268280 BX431650 BQ024107 AW149478 BE465407 BC011353

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for LPL About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9	^	10	^	11
SP1:											-
SP2:			-								-
SP3:									-		-		-		-		-		-		-		-
SP4:

ECgene alternative splicing isoforms for LPL

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LPL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTGGATGTG

About this image

LPL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/25 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 25)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Body Subcutaneous White Adipose

Subcutaneous White Adipocytes

Selective marker (cell-identifying gene)

Adipose

Cranial Subcutaneous White Adipose

Subcutaneous White Adipocytes

Adipose

Facial Subcutaneous White Adipose

Subcutaneous White Adipocytes

Adipose

Subcutaneous White Adipose

Subcutaneous White Adipocytes

Adipose

Visceral White Adipose

Visceral White Adipocytes

Adipose

Visceral White Adipose

Visceral White Preadipocytes

Adipose

Body Subcutaneous White Adipose

Subcutaneous White Preadipocytes

Adipose

Cranial Subcutaneous White Adipose

Subcutaneous White Preadipocytes

Adipose

Facial Subcutaneous White Adipose

Subcutaneous White Preadipocytes

Adipose

Subcutaneous White Adipose

Subcutaneous White Preadipocytes

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 8 LifeMap Cells

Name

Category

Sclerotome cells (Primary Cell)

Bone, Cartilage, Somite

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

White adipocyte-like cells (Differentiation of ...)

Adipose

Adipocyte-like cells (Generation of adipoc...)

Connective tissue progenitor cells (Generation of connec...)

HyStem+BMP4-induced 7SMOO32 cells (HyStem+BMP4 inductio...)

Adipose

HyStem+BMP4-induced E15 cells (HyStem+BMP4 inductio...)

Adipose, Bone, Cartilage

Alveolar type II cells (Derivation of mature...)

Lung

See LPL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LPL

SOURCE GeneReport for Unigene cluster: Hs.180878

SABiosciences Expression via Pathway-Focused PCR Arrays including LPL (see all 12):

Fatty Acid Metabolism in human mouse rat

Cancer PathwayFinder in human mouse rat

Alzheimer's Disease in human mouse rat

Hepatotoxicity in human mouse rat

Adipogenesis in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for LPL gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LPL¹	lipoprotein lipase	74.04(n) 76.55(a)		396219 NM_205282.1 NP_990613.1
lizard (Anolis carolinensis)	Reptilia	LPL⁶	--	64(a)	1 ↔ 1	2(75017738-75035688)
zebrafish (Danio rerio)	Actinopterygii	lpl²	lipoprotein lipase	78.06(n)		30354 BC064296.1
fruit fly (Drosophila melanogaster)	Insecta	CG1986³	lipoprotein lipase	36(a) (best of 3)		9A3 --

ENSEMBL Gene Tree for LPL (if available)
TreeFam Gene Tree for LPL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LPL gene

LIPH² LIPC² LIPG² PNLIPRP3² PNLIP² LIPI² PLA1A² PNLIPRP1²

5 SIMAP similar genes for LPL using alignment to 7 protein entries: LIPL_HUMAN (see all proteins):

LIPG LIPC PNLIPRP1 PNLIP PNLIPRP2

LPL for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs328^1,2	C,F,H,	non-pathogenic	21973642(+)	`GAAGTC/GAGGCT`	2	S *	stg¹ ese³		31	MN EA NA NS CSA EU WA	10335
rs118204078^1,2	C	pathogenic	21974918(+)	`CCTTCC/GTAATT`	2	L V	mis¹		1	NA	4550
rs268^1,2	C,F,H,	pathogenic	21979832(+)	`GATCAA/GTAAAG`	2	N S	mis¹		18	MN NA NS EA EU	7603
rs118204080^1,2	C	pathogenic	21981517(+)	`CGTGAT/CTGCAG`	2	/T /I	mis¹		1	EU	1323
rs118204061^1,2	C	pathogenic	21981610(+)	`AAGCAT/CTGGAA`	2	/T /I	mis¹		1	NA	4552
rs118204057^1,2	C,F	pathogenic	21981628(+)	`CAGAGG/AGTCCC`	2	/E /G	mis¹		1	NA	4552
rs118204058^1,2	C	pathogenic	21983933(+)	`TGGGAC/TAGGAT`	2	Q *	stg¹		1	NA	4552
rs1801177^1,2	C,F,	pathogenic	21987652(+)	`TTATCG/AACATC`	2	/N /D	mis¹		8	NS NA EU WA	6811
rs73667464^1,2	C,	--	18334994(+)	`GCTAAG/TCTGCT`	1	--	us2k¹		1	WA	2
rs79865262^1,2		--	18335002(+)	`GCTGTA/CAATTA`	1	--	us2k¹		1	WA	118

HapMap Linkage Disequilibrium report for LPL (19759228 - 19824770 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for LPL
2 CNVs: 52474 7675
Human Gene Mutation Database (HGMD): LPL

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

LPL for disorders           About GeneDecksing

OMIM gene information: 609708
OMIM disorders: 238600  144250
UniProtKB/Swiss-Prot: LIPL_HUMAN, P06858

Defects in LPL are the cause of lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]; also known as

familial chylomicronemia or hyperlipoproteinemia type I. LPL deficiency 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

20/155 diseases for LPL (see all 155): About MalaCards

high density lipoprotein cholesterol level qtl 11 hyperlipoproteinemia carotid intimal medial thickness lipoprotein lipase deficiency

hyperlipoproteinemia type v hyperlipoproteinemia type iii lipase deficiency combined glycogen storage disease type ia

familial lipoprotein lipase deficiency glycogen storage disease high blood pressure attention deficit hyperactivity disorder

cetp deficiency patent ductus arteriosus glucose intolerance fibrous histiocytoma

combined hyperlipemia metabolic syndrome x lipid metabolism disorder intermittent claudication

7 diseases from the University of Copenhagen DISEASES database for LPL:

Familial hyperlipidemia Atherosclerosis Diabetes mellitus Coronary heart disease

Pancreatitis Familial hypertriglyceridemia Hyperinsulinism

10/96 Novoseek disease relationships for LPL gene (see all 96) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
endogenous hypertriglyceridemia	93.3	95	7811743 (3), 10481930 (2), 1619366 (2), 1907278 (2) (see all 64)
hypertriglyceridemia	91.4	312	10560236 (5), 8675619 (4), 10619999 (3), 17919884 (3) (see all 99)
hypertriglyceridemias familial	83.1	26	7609317 (3), 15534935 (1), 9209790 (1), 9629518 (1) (see all 16)
hyperlipidemia familial combined	81.3	23	8551675 (1), 16822320 (1), 1619366 (1), 8049185 (1) (see all 13)
dyslipidemia	76.4	53	16741292 (3), 19639021 (2), 8790727 (2), 15262189 (2) (see all 33)
hyperlipidemia	74.9	63	14660566 (2), 16606335 (2), 9382958 (2), 1968704 (2) (see all 39)
atherosclerosis	72.7	152	15639492 (4), 10484615 (4), 15545743 (3), 8692976 (3) (see all 75)
hyperlipoproteinemia	72.3	15	8682644 (2), 14669227 (2), 1943724 (2), 11194013 (1) (see all 9)
hyperlipoproteinemia type iii	71.4	16	19233944 (2), 1430218 (2), 2259550 (1), 7583546 (1) (see all 9)
lipoprotein disorder	70.9	4	15719845 (1), 1417963 (1), 9185775 (1), 11122693 (1)

Genatlas disease: LPL

human blood pressure QTL at or near the lipoprotein lipase gene,accounting for 52-73% of variation in systolic bp in

the data set (Taiwanese population)

GeneTests: LPL

Familial Lipoprotein Lipase Deficiency

Genetic Association Database (GAD): LPL
Human Genome Epidemiology (HuGE) Navigator: LPL (355 documents)

Export disorders for LPL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for LPL gene, integrated from 9 sources (see all 2133):
(articles sorted by number of sources associating them with LPL)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 1406652)^{1, 2, 9} Enerbaeck S.... Bjursell G. (1992)
Lack of relationship in long-term type 1 diabetic patients between diabetic nephropathy and polymorphisms in apolipoprotein epsilon, lipoprotein lipase and cholesteryl ester transfer protein. Genetique de la Nephropathie Diabetique Study Group. Donnees Epidemiologiques sur le Syndrome d'Insulino-Resistance Study Group. (PubMed id 11096142)^{1, 4, 9} Hadjadj S....Marre M. (2000)
Interaction effect of Serine447Stop variant of the lipoprotein lipase gene and C-514T variant of the hepatic lipase gene on serum triglyceride levels in young adults: the Bogalusa Heart Study. (PubMed id 14564687)^{1, 4, 9} Xin X....Berenson G.S. (2003)
Associations of LPL and APOC3 gene polymorphisms on plasma lipids in a Mediterranean population: interaction with tobacco smoking and the APOE locus. (PubMed id 11893778)^{1, 4, 9} Corella D....Ordovas J.M. (2002)
A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. (PubMed id 7647785)^{1, 2, 9} Reymer P.W.A....Hayden M.R. (1995)
Lipoprotein lipaseBethesda: a single amino acid substitution (Ala- 176-->Thr) leads to abnormal heparin binding and loss of enzymic activity. (PubMed id 2110364)^{1, 2, 9} Beg O.U.... Fojo S.S. (1990)
[The association of S447X and Hind III polymorphism i n the lipoprotein lipase gene with dyslipidemia of the metabolic syndrome in pa tients with essential hypertension] (PubMed id 15793775)^{1, 4, 9} Liu A....Hu Y. (2005)
Polymorphisms in four genes related to triglyceride and HDL-cholesterol levels in the general Japanese population in 2000. (PubMed id 16205020)^{1, 4, 9} Arai H....Kita T. (2005)
Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD. (PubMed id 15657615)^{1, 4, 9} Souverein O.W....Tanck M.W. (2005)
Lipoprotein lipase is a gene for insulin resistance in Mexican Americans. (PubMed id 14693718)^{1, 4, 9} Goodarzi M.O....Rotter J.I. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4023	HGNC: 6677	AceView: LPL	Ensembl:ENSG00000175445	euGenes: HUgn4023
ECgene: LPL	Kegg: 4023	H-InvDB: LPL

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for LPL	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LPL
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=LPL
Wikipedia	http://en.wikipedia.org/wiki/Lipoprotein_lipase

Intellectual Property for LPL gene
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Patent Information for LPL gene:
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GeneCards and IP:
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Fatty Liver
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