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Aliases for LPL Gene

Aliases for LPL Gene

  • Lipoprotein Lipase 2 3 5
  • EC 3.1.1.34 4 61
  • LIPD 3 4
  • EC 3.1.1 61
  • HDLCQ11 3

External Ids for LPL Gene

Previous HGNC Symbols for LPL Gene

  • LIPD

Previous GeneCards Identifiers for LPL Gene

  • GC08P019672
  • GC08P019859
  • GC08P019807
  • GC08P018336
  • GC08P019759

Summaries for LPL Gene

Entrez Gene Summary for LPL 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 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]

GeneCards Summary for LPL Gene

LPL (Lipoprotein Lipase) is a Protein Coding gene. Diseases associated with LPL include Lipoprotein Lipase Deficiency and Hyperlipidemia, Familial Combined. Among its related pathways are Metabolism of fat-soluble vitamins and Statin Pathway. GO annotations related to this gene include receptor binding and carboxylic ester hydrolase activity. An important paralog of this gene is LIPG.

UniProtKB/Swiss-Prot for LPL Gene

  • The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL) (PubMed:27578112). 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).

Tocris Summary for LPL Gene

  • Lipases are esterase enzymes that catalyze the hydrolysis of ester bonds within hydrophobic lipids. The diverse class of lipase enzymes includes diacylglycerol lipase (DAGL) and lipoprotein lipase (LPL) and endothelial lipase (LIPG).

Gene Wiki entry for LPL Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LPL Gene

Genomics for LPL Gene

Regulatory Elements for LPL Gene

Enhancers for LPL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G019175 1.2 Ensembl ENCODE dbSUPER 5.5 -724.7 -724746 3.3 CTCF MNT OSR2 HIC1 ZSCAN21 PRDM6 JUND ZNF366 SMARCA4 ZNF585B PSD3 SH2D4A LPL GC08P019197 LOC105379301
GH08G019939 1.4 FANTOM5 ENCODE dbSUPER 3.5 +38.2 38160 1.3 TBP KLF17 ZNF2 GLIS2 ZNF366 EGR2 ZNF263 ZNF202 SP3 ZNF398 LPL GC08M019933 LOC105379309
GH08G020074 0.7 Ensembl ENCODE 5.6 +172.7 172724 0.9 HLF NR2F2 ZNF507 LPL LOC105379311 GC08M019958
GH08G019965 0.6 ENCODE dbSUPER 4.6 +63.7 63732 0.7 RBFOX2 SLC18A1 LPL GC08M019958 LOC105379311
GH08G019898 0.8 Ensembl 0.7 -3.1 -3117 0.8 ZNF777 SUZ12 SAP130 KLF17 ZNF2 ZNF335 GATA3 ZFHX2 GATA2 ZBTB48 LPL INTS10
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LPL on UCSC Golden Path with GeneCards custom track

Genomic Location for LPL Gene

Chromosome:
8
Start:
19,901,717 bp from pter
End:
19,967,259 bp from pter
Size:
65,543 bases
Orientation:
Plus strand

Genomic View for LPL Gene

Genes around LPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LPL Gene

Proteins for LPL Gene

  • Protein details for LPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06858-LIPL_HUMAN
    Recommended name:
    Lipoprotein lipase
    Protein Accession:
    P06858
    Secondary Accessions:
    • B2R5T9
    • Q16282
    • Q16283
    • Q96FC4

    Protein attributes for LPL Gene

    Size:
    475 amino acids
    Molecular mass:
    53162 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with APOC2; the interaction activates LPL activity in the presence of lipids (By similarity). Interacts with GPIHBP1 (PubMed:17997385). Interacts with SEL1L and LMF1 (PubMed:25066055).

neXtProt entry for LPL Gene

Selected DME Specific Peptides for LPL Gene

P06858:
  • DVARFINW
  • RLSPDDA
  • KCSHERS
  • DIESKFA
  • IRVKAGETQKKVIFC
  • WSDWWSSP
  • FEISLYGTVAESENIPFTLPE
  • FVDVLHTFTRGSPGRSIGIQKPVGHVDIYPNGG
  • KIRVKAG
  • NVIVVDW
  • CLSCRKNRCN
  • NVHLLGYSLGAHAAGIAGSLT
  • CHFNHSSKTF
  • SAGYTKLVG
  • VDWLSRA
  • NKTYSFL
  • RVIAERGLGDVDQLVKCSHERS
  • SHLQKGK
  • HLFIDSL
  • YTEVDIGELLMLKLKW
  • KMYLKTR
  • QMPYKVFHYQVK
  • GLDPAGP
  • RITGLDPAGPNFEYAEA
  • VKAGETQ

Post-translational modifications for LPL Gene

  • Tyrosine nitration after lipopolysaccharide (LPS) challenge down-regulates the lipase activity.
  • Glycosylation at posLast=7070 and Asn386
  • Modification sites at PhosphoSitePlus

Other Protein References for LPL Gene

Domains & Families for LPL Gene

Gene Families for LPL Gene

Graphical View of Domain Structure for InterPro Entry

P06858

UniProtKB/Swiss-Prot:

LIPL_HUMAN :
  • Belongs to the AB hydrolase superfamily. Lipase family.
Family:
  • Belongs to the AB hydrolase superfamily. Lipase family.
genes like me logo Genes that share domains with LPL: view

Function for LPL Gene

Molecular function for LPL Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
Triacylglycerol + H(2)O = diacylglycerol + a carboxylate.
UniProtKB/Swiss-Prot Function:
The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL) (PubMed:27578112). 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).

Enzyme Numbers (IUBMB) for LPL Gene

Gene Ontology (GO) - Molecular Function for LPL Gene

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 20124439
genes like me logo Genes that share ontologies with LPL: view
genes like me logo Genes that share phenotypes with LPL: view

Human Phenotype Ontology for LPL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LPL Gene

MGI Knock Outs for LPL:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for LPL Gene

Localization for LPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for LPL Gene

Cell membrane; Lipid-anchor, GPI-anchor. Secreted. 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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LPL gene
Compartment Confidence
extracellular 5
plasma membrane 4
peroxisome 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 2340307
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LPL: view

Pathways & Interactions for LPL Gene

genes like me logo Genes that share pathways with LPL: view

Gene Ontology (GO) - Biological Process for LPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process ISS --
GO:0006641 triglyceride metabolic process ISS 10727238
GO:0006644 phospholipid metabolic process ISS 10727238
genes like me logo Genes that share ontologies with LPL: view

No data available for SIGNOR curated interactions for LPL Gene

Drugs & Compounds for LPL Gene

(99) Drugs for LPL Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Orlistat Approved, Investigational Pharma inhibitor Lipase inhibitor for obesity treatment, Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 52
Fenofibrate Approved Pharma 170
Glycerol Approved, Experimental Pharma 238
Activated charcoal Approved Pharma Target 0
Tyloxapol Approved, Investigational Pharma Target, inhibitor 0

(61) Additional Compounds for LPL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
506-30-9
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Hexadecanoyl-3-(11-eicosenoyl)-sn-glycerol
  • 1-Palmitoyl-3-eicosenoyl-sn-glycerol
  • DAG(16:0/0:0/20:1)
  • DAG(16:0/0:0/20:1n9)
  • DAG(16:0/0:0/20:1w9)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)

(3) Tocris Compounds for LPL Gene

Compound Action Cas Number
GSK 264220A Endothelial lipase and lipoprotein lipase inhibitor 685506-42-7
Orlistat Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 96829-58-2
XEN 445 Selective endothelial lipase inhibitor; orally bioavailable 1515856-92-4

(2) ApexBio Compounds for LPL Gene

Compound Action Cas Number
Atglistatin 1469924-27-3
Orlistat Lipase inhibitor for obesity treatment 96829-58-2
genes like me logo Genes that share compounds with LPL: view

Transcripts for LPL Gene

Unigene Clusters for LPL Gene

Lipoprotein lipase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LPL Gene

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

Relevant External Links for LPL Gene

GeneLoc Exon Structure for
LPL
ECgene alternative splicing isoforms for
LPL

Expression for LPL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LPL Gene

This gene is overexpressed in Heart - Left Ventricle (x12.7), Adipose - Visceral (Omentum) (x9.6), Adipose - Subcutaneous (x8.1), and Breast - Mammary Tissue (x4.2).

Protein differential expression in normal tissues from HIPED for LPL Gene

This gene is overexpressed in Milk (48.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LPL Gene



NURSA nuclear receptor signaling pathways regulating expression of LPL Gene:

LPL

SOURCE GeneReport for Unigene cluster for LPL Gene:

Hs.180878

Evidence on tissue expression from TISSUES for LPL Gene

  • Nervous system(5)
  • Heart(4.5)
  • Lung(4.1)
  • Muscle(3.6)
  • Thyroid gland(3.3)
  • Blood(3.1)
  • Kidney(2.6)
  • Liver(2.4)
  • Intestine(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LPL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
Thorax:
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • duodenum
  • intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
General:
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with LPL: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for LPL Gene

Orthologs for LPL Gene

This gene was present in the common ancestor of animals.

Orthologs for LPL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LPL 34 35
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia LPL 34 35
  • 89.38 (n)
cow
(Bos Taurus)
Mammalia LPL 34 35
  • 88.56 (n)
mouse
(Mus musculus)
Mammalia Lpl 34 16 35
  • 88.05 (n)
rat
(Rattus norvegicus)
Mammalia Lpl 34
  • 87.06 (n)
oppossum
(Monodelphis domestica)
Mammalia LPL 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LPL 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves LPL 34 35
  • 73.36 (n)
lizard
(Anolis carolinensis)
Reptilia LPL 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lpl 34
  • 71.18 (n)
zebrafish
(Danio rerio)
Actinopterygii lpl 34 35
  • 62.95 (n)
LPL (2 of 2) 35
  • 50 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.165 34
fruit fly
(Drosophila melanogaster)
Insecta CG1986 36
  • 36 (a)
CG6271 36
  • 33 (a)
CG6277 36
  • 32 (a)
CG5966 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
ManyToMany
-- 35
  • 20 (a)
ManyToMany
Species where no ortholog for LPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LPL Gene

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

Paralogs for LPL Gene

Paralogs for LPL Gene

(5) SIMAP similar genes for LPL Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with LPL: view

Variants for LPL Gene

Sequence variations from dbSNP and Humsavar for LPL Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs118204056 Pathogenic, Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] 19,954,185(+) ATGAT(A/G)CAGAT reference, missense
rs118204057 Pathogenic, Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] 19,954,222(+) CAGAG(A/G)GTCCC reference, missense
rs118204060 Pathogenic, Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] 19,954,279(+) TTACC(C/T)GAATG reference, missense
rs118204061 Pathogenic, Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] 19,954,240(+) AAGCA(C/T)TGGAA reference, missense
rs118204062 Pathogenic, Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] 19,955,874(+) CGAGC(A/G)CTCCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LPL Gene

Variant ID Type Subtype PubMed ID
esv32767 CNV loss 17666407
esv3616553 CNV gain 21293372
esv3891372 CNV gain 25118596
nsv1033511 CNV gain 25217958
nsv515694 CNV gain 19592680
nsv522185 CNV gain 19592680
nsv610759 CNV gain 21841781

Variation tolerance for LPL Gene

Residual Variation Intolerance Score: 77.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.64; 72.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LPL Gene

Human Gene Mutation Database (HGMD)
LPL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LPL Gene

Disorders for LPL Gene

MalaCards: The human disease database

(41) MalaCards diseases for LPL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lipoprotein lipase deficiency
  • hyperlipoproteinemia, type i
hyperlipidemia, familial combined
  • combined hyperlipidemia, familial
familial lipoprotein lipase deficiency
  • lipoprotein lipase deficiency
familial hyperlipidemia
  • familial hyperlipoproteinemia
hyperchylomicronemia, late-onset
  • hyperlipidemia, familial combined
- elite association - COSMIC cancer census association via MalaCard