Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4023
Gene name Gene Name - the full gene name approved by the HGNC.
Lipoprotein lipase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LPL
Synonyms (NCBI Gene) Gene synonyms aliases
HDLCQ11, LIPD
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs268 A>G Pathogenic, uncertain-significance, risk-factor Missense variant, coding sequence variant
rs1801177 G>A,C Other, benign-likely-benign, likely-benign, risk-factor Missense variant, coding sequence variant
rs11542065 C>G,T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, missense variant
rs118204056 G>A Pathogenic Missense variant, coding sequence variant
rs118204057 G>A,C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001542 hsa-miR-155-5p pSILAC 18668040
MIRT005491 hsa-miR-138-5p qRT-PCR 20486779
MIRT005584 hsa-miR-29a-3p ELISA, Luciferase reporter assay, qRT-PCR, Western blot 21276447
MIRT019335 hsa-miR-148b-3p Microarray 17612493
MIRT001542 hsa-miR-155-5p Proteomics;Other 18668040
Transcription factors
Transcription factor Regulation Reference
NFKB1 Activation 20200316
PPARA Activation 10634806
PPARD Activation 10634806
RELA Activation 20200316
SP1 Unknown 18793716;9788252
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process IEA
GO:0004465 Function Lipoprotein lipase activity IBA
GO:0004465 Function Lipoprotein lipase activity IDA 2110364, 2340307, 3973011, 11342582, 27578112, 30559189
GO:0004465 Function Lipoprotein lipase activity IEA
GO:0004465 Function Lipoprotein lipase activity IMP 25149060
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609708 6677 ENSG00000175445
Protein
UniProt ID P06858
Protein name Lipoprotein lipase (LPL) (EC 3.1.1.34) (Phospholipase A1) (EC 3.1.1.32)
Protein function Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilizat
PDB 6E7K , 6OAU , 6OAZ , 6OB0 , 6WN4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00151 Lipase 17 338 Lipase Domain
PF01477 PLAT 343 463 PLAT/LH2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in blood plasma (PubMed:11893776, PubMed:12641539, PubMed:2340307). Detected in milk (at protein level) (PubMed:2340307). {ECO:0000269|PubMed:11893776, ECO:0000269|PubMed:12641539, ECO:0000269|PubMed:2340307}.
Sequence
Sequence length 475
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycerolipid metabolism
PPAR signaling pathway
Cholesterol metabolism
Alzheimer disease
  Transcriptional regulation of white adipocyte differentiation
Assembly of active LPL and LIPC lipase complexes
Chylomicron remodeling
Retinoid metabolism and transport
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hyperlipidemia Hyperlipidemia, familial combined, LPL related rs118204062, rs118204069, rs118204070, rs118204057, rs1563569634, rs118204071, rs1064797075, rs118204060 N/A
Hyperlipoproteinemia Hyperlipoproteinemia, type I rs118204078, rs118204056, rs118204074, rs118204070, rs118204079, rs118204057, rs118204063, rs118204080, rs118204064, rs766134215, rs118204081, rs118204058, rs1563569634, rs118204071, rs118204082
View all (19 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Diabetes Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy), Triglyceride levels in non-type 2 diabetes, Type 2 diabetes, Type 2 diabetes (adjusted for BMI) N/A N/A GWAS
Dilated Cardiomyopathy Dilated cardiomyopathy 1A N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Associate 26087292
Acute Coronary Syndrome Associate 29412239
Adenocarcinoma Associate 33371142
Adenocarcinoma of Lung Associate 33050938
Adenomatous Polyposis Coli Associate 40353385
Albuminuria Associate 15857159
Alcoholism Associate 7912254
Alzheimer Disease Associate 19639021, 33213512
Arthritis Rheumatoid Associate 28774272
Atherosclerosis Associate 10191298, 11796707, 11861663, 15545743, 1569193, 15961789, 15994321, 17093291, 17662793, 19368142, 23991054, 28444107, 30333156, 8129039, 8408628
View all (2 more)