Gene Gene information from NCBI Gene database.
Entrez ID 4023
Gene name Lipoprotein lipase
Gene symbol LPL
Synonyms (NCBI Gene)
HDLCQ11LIPD
Chromosome 8
Chromosome location 8p21.3
Summary 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.
41
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.
92
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 ELISALuciferase reporter assayqRT-PCRWestern blot 21276447
MIRT019335 hsa-miR-148b-3p Microarray 17612493
MIRT001542 hsa-miR-155-5p Proteomics;Other 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
95
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609708 6677 ENSG00000175445
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
75
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiovascular phenotype Pathogenic; Likely pathogenic rs761886494, rs145657341, rs373088068, rs762007406, rs768128481, rs2128839625, rs372668179, rs1416098529, rs2128839190, rs118204057, rs118204060, rs118204062, rs1563569634, rs118204065, rs118204068
View all (10 more)
RCV002420853
RCV002440807
RCV005660151
RCV003299025
RCV002352679
View all (20 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperlipidemia, familial combined, LPL related Likely pathogenic; Pathogenic rs781614031, rs145657341, rs762007406, rs2128838185, rs2128839227, rs118204057, rs118204060, rs118204062, rs1563569634, rs118204066, rs118204068, rs118204069, rs118204070, rs118204071, rs118204077
View all (13 more)
RCV002246352
RCV002501917
RCV002246536
RCV002490029
RCV005042469
View all (23 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperlipoproteinemia, type I Likely pathogenic; Pathogenic rs2069982771, rs781614031, rs761886494, rs145657341, rs775728208, rs2128838194, rs762007406, rs2128838185, rs2128839190, rs2128839227, rs118204056, rs118204057, rs118204058, rs118204059, rs1563572716
View all (42 more)
RCV001332300
RCV001732177
RCV001831346
RCV001827495
RCV001580615
View all (53 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lipase deficiency, combined Likely pathogenic; Pathogenic rs2069982771 RCV003987837
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 28025036
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 28025036
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 26087292 Associate
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 7593431
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29650292
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 24646025, 29921298, 30318066, 30318473, 30420299
★☆☆☆☆
Found in Text Mining only
Acute recurrent pancreatitis Pancreatitis BEFREE 16552344, 28548960, 29921298
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17347923
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 9770500
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 17347923
★☆☆☆☆
Found in Text Mining only