• Gene id: 4023

Gene Summary

• Gene Symbol: LPL   Gene   UCSC   Ensembl
• Aliases: HDLCQ11, LIPD
• Gene name: lipoprotein lipase
• Alternate names: lipoprotein lipase,
• Gene location: 8p21.3 (19939252: 19967258)     Exons: 10     NC_000008.11
• Gene summary(Entrez): 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 mutatio
• OMIM: 609708

SNPs

rs140132974

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.135697628C>T
NC_000009.11   g.138589474C>T
NG_033070.1   g.444C>T
NG_033784.1   g.6901G>A|SEQ=[C/T]|GENE=SOHLH1

Protein Summary

• Protein general information: P06858  
  • Name: Lipoprotein lipase (LPL) (EC 3.1.1.34)
  • Length: 475  
  • Mass: 53162
  • Tissue specificity: Detected in blood plasma (PubMed
• Sequence:

  MESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKFALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKT
  FMVIHGWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLVGQDVARFINWMEEEFNYPL
  DNVHLLGYSLGAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRGSPGRSIGIQK
  PVGHVDIYPNGGTFQPGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKG
  LCLSCRKNRCNNLGYEINKVRAKRSSKMYLKTRSQMPYKVFHYQVKIHFSGTESETHTNQAFEISLYGTVAESEN
  IPFTLPEVSTNKTYSFLIYTEVDIGELLMLKLKWKSDSYFSWSDWWSSPGFAIQKIRVKAGETQKKVIFCSREKV
  SHLQKGKAPAVFVKCHDKSLNKKSG

• Structural information:
  • Protein Domains: (341..46-)
    (/note="PLAT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00152"-)
  • Interpro: IPR029058  IPR013818  IPR016272  IPR033906  IPR002330   IPR001024  IPR036392  IPR000734  
  • Prosite: PS00120 PS50095
  • CDD: cd00707
  • PDB: 6E7K 6OAU 6OAZ 6OB0
  • PDBsum: 6E7K 6OAU 6OAZ 6OB0
  • STRING: ENSP00000309757
• Other Databases: GeneCards:  LPL  Malacards:  LPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043495	protein-membrane adaptor activity	TAS	molecular function
GO:1904469	positive regulation of tumor necrosis factor secretion	ISS	biological process
GO:2000778	positive regulation of interleukin-6 secretion	ISS	biological process
GO:1904209	positive regulation of chemokine (C-X-C motif) ligand 2 production	ISS	biological process
GO:0050729	positive regulation of inflammatory response	ISS	biological process
GO:0045600	positive regulation of fat cell differentiation	IMP	biological process
GO:0010884	positive regulation of lipid storage	TAS	biological process
GO:0071398	cellular response to fatty acid	ISS	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	ISS	biological process
GO:0031670	cellular response to nutrient	ISS	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0016298	lipase activity	IBA	molecular function
GO:0034185	apolipoprotein binding	IBA	molecular function
GO:0016042	lipid catabolic process	IBA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0019433	triglyceride catabolic process	IDA	biological process
GO:0019433	triglyceride catabolic process	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0008970	phospholipase A1 activity	IDA	molecular function
GO:0008970	phospholipase A1 activity	IDA	molecular function
GO:0071813	lipoprotein particle binding	IDA	molecular function
GO:0019433	triglyceride catabolic process	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0019433	triglyceride catabolic process	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0019433	triglyceride catabolic process	IDA	biological process
GO:0004465	lipoprotein lipase activity	IDA	molecular function
GO:0008201	heparin binding	IDA	molecular function
GO:0004465	lipoprotein lipase activity	IDA	molecular function
GO:0004806	triglyceride lipase activity	IDA	molecular function
GO:0004806	triglyceride lipase activity	IDA	molecular function
GO:0004465	lipoprotein lipase activity	IDA	molecular function
GO:0006631	fatty acid metabolic process	IDA	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0004465	lipoprotein lipase activity	IDA	molecular function
GO:0006631	fatty acid metabolic process	IDA	biological process
GO:0004465	lipoprotein lipase activity	IDA	molecular function
GO:0034371	chylomicron remodeling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043395	heparan sulfate proteoglycan binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004465	lipoprotein lipase activity	IEA	molecular function
GO:0004806	triglyceride lipase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0052689	carboxylic ester hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0042627	chylomicron	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0034361	very-low-density lipoprotein particle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008201	heparin binding	IEA	molecular function
GO:0008201	heparin binding	TAS	molecular function
GO:0008970	phospholipase A1 activity	IEA	molecular function
GO:0004465	lipoprotein lipase activity	IEA	molecular function
GO:0052739	phosphatidylserine 1-acylhydrolase activity	IEA	molecular function
GO:0052740	1-acyl-2-lysophosphatidylserine acylhydrolase activity	IEA	molecular function
GO:0009749	response to glucose	ISS	biological process
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0051004	regulation of lipoprotein lipase activity	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0034371	chylomicron remodeling	TAS	biological process
GO:0071398	cellular response to fatty acid	IEA	biological process
GO:0050729	positive regulation of inflammatory response	IEA	biological process
GO:0019433	triglyceride catabolic process	IEA	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:1900077	negative regulation of cellular response to insulin stimulus	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:2000778	positive regulation of interleukin-6 secretion	IEA	biological process
GO:1904469	positive regulation of tumor necrosis factor secretion	IEA	biological process
GO:1904209	positive regulation of chemokine (C-X-C motif) ligand 2 production	IEA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IEA	biological process
GO:0031670	cellular response to nutrient	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0004806	triglyceride lipase activity	IEA	molecular function
GO:0004465	lipoprotein lipase activity	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0019432	triglyceride biosynthetic process	IEA	biological process
GO:0017129	triglyceride binding	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0009409	response to cold	IEA	biological process
GO:0004465	lipoprotein lipase activity	IEA	molecular function
GO:0050729	positive regulation of inflammatory response	IC	biological process
GO:0004465	lipoprotein lipase activity	IMP	molecular function
GO:0090197	positive regulation of chemokine secretion	IMP	biological process
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0004620	phospholipase activity	ISS	molecular function
GO:0034185	apolipoprotein binding	IPI	molecular function
GO:0004465	lipoprotein lipase activity	IDA	molecular function
GO:0004806	triglyceride lipase activity	IDA	molecular function
GO:0004806	triglyceride lipase activity	IDA	molecular function
GO:0008201	heparin binding	IDA	molecular function
GO:0004465	lipoprotein lipase activity	ISS	molecular function
GO:0004806	triglyceride lipase activity	ISS	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0006633	fatty acid biosynthetic process	IC	biological process
GO:0006633	fatty acid biosynthetic process	IDA	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IC	biological process
GO:0019433	triglyceride catabolic process	IDA	biological process
GO:0019433	triglyceride catabolic process	IDA	biological process
GO:0034371	chylomicron remodeling	IC	biological process
GO:0034372	very-low-density lipoprotein particle remodeling	IDA	biological process
GO:0006633	fatty acid biosynthetic process	ISS	biological process
GO:0006644	phospholipid metabolic process	ISS	biological process
GO:0019433	triglyceride catabolic process	ISS	biological process
GO:0034372	very-low-density lipoprotein particle remodeling	ISS	biological process
GO:0070328	triglyceride homeostasis	IGI	biological process
GO:0006641	triglyceride metabolic process	ISS	biological process
GO:0010886	positive regulation of cholesterol storage	IMP	biological process
GO:0010890	positive regulation of sequestering of triglyceride	IMP	biological process
GO:0055096	low-density lipoprotein particle mediated signaling	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005615	extracellular space	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa03320	PPAR signaling pathway
hsa00561	Glycerolipid metabolism
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Primary hyperchylomicronemia	KEGG:H01784
Hyperlipidemia	KEGG:H01635
Hyperlipoproteinemia, type I	KEGG:H00154
Hypertriglyceridemia	KEGG:H01637
Primary hyperchylomicronemia	KEGG:H01784
Hyperlipidemia	KEGG:H01635
Hyperlipoproteinemia, type I	KEGG:H00154
Hypertriglyceridemia	KEGG:H01637
Muscular disease	PMID:7635990
Alzheimer's disease	PMID:24004859
Alzheimer's disease	PMID:10206232
Alzheimer's disease	PMID:16013913
Alzheimer's disease	PMID:16965549
Alzheimer's disease	PMID:15331147
Hypertension	PMID:16132104
Familial hyperlipidemia	PMID:9920508
familial lipoprotein lipase deficiency	PMID:1907278
familial lipoprotein lipase deficiency	PMID:9973300
familial lipoprotein lipase deficiency	PMID:16431216
Coronary artery disease	PMID:8641022
Myocardial infarction	PMID:18823627
type 2 diabetes mellitus	PMID:18321693
type 2 diabetes mellitus	PMID:18985010
type 2 diabetes mellitus	PMID:8641022
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881