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LIPC Gene

protein-coding   GIFtS: 63
GCID: GC15P058702

Lipase, Hepatic

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Lipase, Hepatic1 2     EC 3.1.1.33 8
HL2 3 5     HDLCQ122 5
Hepatic Lipase2 3     LIPH2 5
Lipase Member C2 3     Hepatic Triacylglycerol Lipase2
HTGL2 3     EC 3.1.18

External Ids:    HGNC: 66191   Entrez Gene: 39902   Ensembl: ENSG000001660357   OMIM: 1516705   UniProtKB: P111503   

Export aliases for LIPC gene to outside databases

Previous GC identifers: GC15P054281 GC15P051771 GC15P056303 GC15P056440 GC15P056511 GC15P035548


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LIPC Gene:
LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride
hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. (provided by RefSeq, Jul 2008)

GeneCards Summary for LIPC Gene:
LIPC (lipase, hepatic) is a protein-coding gene. Diseases associated with LIPC include hepatitis, and hepatic lipase deficiency. GO annotations related to this gene include low-density lipoprotein particle binding and heparin binding. An important paralog of this gene is LIPH.

UniProtKB/Swiss-Prot: LIPC_HUMAN, P11150
Function: Hepatic lipase has the capacity to catalyze hydrolysis of phospholipids, mono-, di-, and triglycerides,
and acyl-CoA thioesters. It is an important enzyme in HDL metabolism. Hepatic lipase binds heparin

Gene Wiki entry for LIPC (Hepatic lipase) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LIPC gene promoter:
         PPAR-gamma1   FOXJ2 (long isoform)   FOXJ2   PPAR-gamma2   LCR-F1   RORalpha2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLIPC promoter sequence
   Search Chromatin IP Primers for LIPC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LIPC


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

Entrez Gene cytogenetic band: 15q21-q23   Ensembl cytogenetic band:  15q21.3   HGNC cytogenetic band: 15q21-q23

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P058702:  view genomic region     (about GC identifiers)

Start:
58,702,768 bp from pter      End:
58,861,151 bp from pter
Size:
158,384 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: LIPC_HUMAN, P11150 (See protein sequence)
Recommended Name: Hepatic triacylglycerol lipase precursor  
Size: 499 amino acids; 55914 Da
Secondary accessions: A2RUB4 A8K9B6 O43571 P78529 Q99465

Explore the universe of human proteins at neXtProt for LIPC: NX_P11150

Explore proteomics data for LIPC at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn42, Asn78, Asn362, Asn397
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for LIPC (P11150) (see all 11)
     RLSPDDA  KCSHERS  NKTYSFL  GRITGLD 


    See LIPC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000227.2  
    ENSEMBL proteins: 
     ENSP00000348425   ENSP00000395569   ENSP00000299022   ENSP00000395002  

    LIPC Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for LIPC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR000734 Lipase
     IPR002333 Lipase_hep
     IPR016272 Lipoprotein_lipase_LIPH
     IPR001024 PLAT/LH2_dom
     IPR008976 Lipase_LipOase

    Graphical View of Domain Structure for InterPro Entry P11150

    ProtoNet protein and cluster: P11150

    4 Blocks protein domains:
    IPB000734 Lipase
    IPB001024 Lipoxygenase
    IPB002333 Hepatic lipase signature
    IPB008262 Lipase


    UniProtKB/Swiss-Prot: LIPC_HUMAN, P11150
    Similarity: Belongs to the AB hydrolase superfamily. Lipase family
    Similarity: Contains 1 PLAT domain


    LIPC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LIPC_HUMAN, P11150
    Function: Hepatic lipase has the capacity to catalyze hydrolysis of phospholipids, mono-, di-, and triglycerides,
    and acyl-CoA thioesters. It is an important enzyme in HDL metabolism. Hepatic lipase binds heparin
    Catalytic activity: Triacylglycerol + H(2)O = diacylglycerol + a carboxylate

         Genatlas biochemistry entry for LIPC:
    lipase,hepatic,53kDa,plasma lipid transport

         Enzyme Numbers (IUBMB): EC 3.1.1.31 2 EC 3.1.12

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004620phospholipase activity TAS3244012
    GO:0004806triglyceride lipase activity IDA182536
    GO:0005515protein binding ----
    GO:0008201heparin binding IEA--
    GO:0016298lipase activity ----
         
    LIPC for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lipc):
     endocrine/exocrine gland  homeostasis/metabolism  reproductive system 

    LIPC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lipctm1Unc for LIPC

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LIPC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LIPC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LIPC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LIPC

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    miRTarBase miRNAs that target LIPC:
    hsa-mir-148b-3p (MIRT019266), hsa-mir-1 (MIRT023497)

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    GenScript: all cDNA clones in your preferred vector: LIPC (NM_000236)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LIPC

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIPC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LIPC_HUMAN, P11150: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IDA2839510
    GO:0034364high-density lipoprotein particle IEA--

    LIPC for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for LIPC About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Statin Pathway
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    3Lipoprotein metabolism
    Lipoprotein metabolism0.59
    Chylomicron-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    4the visual cycle I (vertebrates)
    retinol biosynthesis0.52
    5triacylglycerol biosynthesis
    Triacylglyceride Synthesis0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for LIPC
        Statin Pathway
    Fatty Acid Beta Oxidation
    Triacylglyceride Synthesis
    triacylglycerol degradation
    retinol biosynthesis

    1 PharmGKB Pathway for LIPC
        Statin Pathway, Pharmacodynamics

    2 Kegg Pathways  (Kegg details for LIPC):
        Glycerolipid metabolism
    Metabolic pathways


    LIPC for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LIPC
    Interactions:

        GeneGlobe Interaction Network for LIPC

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

    Selected Interacting proteins for LIPC (P111503 ENSP000002990224) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APOBP041143, ENSP000002332424I2D: score=2 STRING: ENSP00000233242
    LRP1Q079543, ENSP000002430774I2D: score=2 STRING: ENSP00000243077
    APOEENSP000002524864STRING: ENSP00000252486
    CELENSP000003611514STRING: ENSP00000361151
    DGAT1ENSP000003322584STRING: ENSP00000332258
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006633fatty acid biosynthetic process IDA182536
    GO:0008203cholesterol metabolic process IEA--
    GO:0019433triglyceride catabolic process IDA182536
    GO:0030301cholesterol transport ----

    LIPC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LIPC

    Selected HMDB Compounds for LIPC (see all 1173)    About this table
    CompoundSynonyms CAS #PubMed Ids
    TG(15:0/16:0/20:2(11Z,14Z))[iso6]Tracylglycerol(15:0/16:0/20:2) (see all 15)--12486725
    TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:3n6) (see all 16)--12486725
    TG(15:0/16:0/20:4(5Z,8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:4n6) (see all 15)--12486725
    TG(15:0/18:0/18:2(9Z,12Z))[iso6]TG(15:0/18:0/18:2w6) (see all 15)--12486725
    TG(15:0/18:0/18:3(9Z,12Z,15Z))[iso6]TAG(51:3) (see all 16)--12486725
    TG(15:0/18:1(9Z)/16:0)[iso6]Tracylglycerol(15:0/18:1w9/16:0) (see all 15)--12486725
    TG(15:0/18:1(9Z)/16:1(9Z))[iso6]TG(15:0/18:1/16:1) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:1(9Z))[iso3]TG(15:0/18:1n9/18:1n9) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:2(9Z,12Z))[iso6]Tracylglycerol(15:0/18:1/18:2) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6]Tracylglycerol(15:0/18:1/18:3) (see all 16)--12486725

    Selected Novoseek inferred chemical compound relationships for LIPC gene (see all 67)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesterol 84.1 389 9885775 (6), 1742328 (5), 10073966 (5), 12777471 (4) (see all 99)
    cholesterol ester 80.8 35 12419479 (2), 19584682 (2), 12023990 (1), 16343038 (1) (see all 25)
    lipid 73.9 155 11171785 (3), 12235167 (3), 1364970 (3), 10936588 (3) (see all 92)
    triacylglycerol 68.7 45 2002032 (5), 1390640 (4), 2375781 (3), 2036455 (2) (see all 24)
    phospholipid 64.4 76 1390640 (4), 9885775 (2), 9258411 (2), 10511296 (2) (see all 42)
    heparin 59.4 62 16554020 (3), 1755003 (2), 8186654 (2), 10487498 (2) (see all 41)
    fatty acid 50 30 8637399 (1), 9486964 (1), 10619982 (1), 18662427 (1) (see all 19)
    gemfibrozil 44.8 7 7595182 (2), 8257455 (2), 8318063 (1)
    bezafibrate 44.4 2 16338252 (2)
    glycerides 43.4 3 9392420 (1), 9048565 (1)



    LIPC for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for LIPC gene: 
    NM_000236.2  

    Unigene Cluster for LIPC:

    Lipase, hepatic
    Hs.654472  [show with all ESTs]
    Unigene Representative Sequence: BC146659
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356113(uc010bga.2) ENST00000414170(uc010bfz.1) ENST00000560257
    ENST00000299022(uc002afa.2) ENST00000559845(uc010bgb.1) ENST00000433326(uc010ugy.2)
    ENST00000560664

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      QuantiTect SYBR Green Assays in human, mouse, rat LIPC
      QuantiFast Probe-based Assays in human, mouse, rat LIPC

    Additional mRNA sequence: 

    AK290062.1 AK292631.1 AK293324.1 AK309448.1 AK315306.1 BC132825.1 BC136495.1 BC146659.1 
    D83548.1 J03540.1 J03895.1 X07228.1 

    5 DOTS entries:

    DT.315369  DT.100837211  DT.106064  DT.121059864  DT.315370 

    Selected AceView cDNA sequences (see all 53):

    CR590311 CR619207 CR612434 CR596048 BX443795 BX094318 H57342 BX422325 
    W87730 D83548 R99344 J03895 BX449129 R85611 AV645541 N75990 
    CD514374 NM_000236 AU120729 BX462874 AI823349 X07228 J03540 AI193167 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for LIPC    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10
    SP1:                                                                                                
    SP2:                                                                                                
    SP3:              -     -     -     -                                                               
    SP4:              -     -           -                                                               
    SP5:                                                                                                


    ECgene alternative splicing isoforms for LIPC

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LIPC expression in normal human tissues (normalized intensities)      LIPC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCACAGGG
    LIPC Expression
    About this image


    LIPC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Liver Lobule
             Hepatocyte-like cells
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced embryoid bodies
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
     
     Brain (Nervous System)
             Mature Endothelial Cells Blood Brain Barrier
    LIPC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LIPC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654472
        Custom PCR Arrays for LIPC
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIPC

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for LIPC gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lipc1 , 5 lipase, hepatic1, 5 80.5(n)1
    76.48(a)1
      9 (39.57 cM)5
    154501  NM_008280.21  NP_032306.21 
     707981295 
    chicken
    (Gallus gallus)
    Aves LIPC1 lipase, hepatic 67.76(n)
    64.75(a)
      427495  XM_425067.4  XP_425067.4 
    lizard
    (Anolis carolinensis)
    Reptilia LIPC6
    lipase, hepatic
    54(a)
    1 ↔ 1
    GL343573.1(239063-246153)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.175302 Xenopus laevis transcribed sequence with weak similarity to protein spP11150 (H.sapiens) LIPH_HUMAN Triacylglycerol lipase, hepatic precursor (Hepatic lipase) (HL) less 73.33(n)    CB983238.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc640812 similar to lipase, hepatic 75.12(n)   393997  BC053243.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG68473 triacylglycerol lipase 37(a)
    (best of 2)
      16F3   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LIPC gene
    LIPH2  LIPG2  PNLIPRP32  PNLIPRP22  LPL2  PNLIP2  LIPI2  PLA1A2  
    PNLIPRP12  
    7 SIMAP similar genes for LIPC using alignment to 5 protein entries:     LIPC_HUMAN (see all proteins):
    LIPH    LPL    LIPG    PNLIPRP3    PNLIP    PNLIPRP2
    PLA1A

    LIPC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    LIPC_HUMAN, P11150: Genetic variations in LIPC define the high density lipoprotein cholesterol level quantitative trait
    locus 12 (HDLCQ12) [MIM:612797]
    LIPC_HUMAN, P11150: Genetic variations in LIPC are associated with non-insulin-dependent diabetes mellitus
    susceptibility (NIDDM susceptibility) [MIM:125853]


    Selected SNPs for LIPC (see all 3471)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219125021,2,,4
    C,FHepatic lipase deficiency (HL deficiency)4 pathogenic138902659(+) CGACTC/TCTTGC 2 S F mis12Minor allele frequency- T:0.00NA EU 5875
    rs289330941,2,4
    Hepatic lipase deficiency (HL deficiency)4--see VAR_0042102 mis40--------
    rs1132981641,2
    C,Fpathogenic138917798(+) TATCAC/TGCTGG 2 T M mis13Minor allele frequency- T:0.00NA EU 5995
    rs5836621,2
    C,F,A,H--38784247(+) tgcccA/Gcttaa 1 -- us2k116Minor allele frequency- G:0.09NS EA NA WA CSA 793
    rs1845058191,2
    C--38784279(+) GAGCCA/TTCTCA 1 -- us2k10--------
    rs1876794321,2
    --38784337(+) CTGCTC/TCACTC 1 -- us2k10--------
    rs1497365851,2
    C--38784343(+) CACTCA/GCAGCT 1 -- us2k10--------
    rs1446911701,2
    --38784489(+) AATATA/TTCCAC 1 -- us2k10--------
    rs1924609741,2
    --38784512(+) ACTCCA/GCAGTT 1 -- us2k10--------
    rs1163727851,2
    F--38784539(+) GGCCAC/TGCCAC 1 -- us2k11Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for LIPC (58702768 - 58861151 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LIPC (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv94680CNV Loss16902084
    nsv524065CNV Loss19592680
    nsv522373CNV Loss19592680
    nsv524098CNV Loss19592680
    nsv904267CNV Gain21882294
    nsv904254CNV Gain21882294
    nsv904268CNV Gain21882294
    esv1002236CNV Gain20482838
    nsv827345CNV Gain20364138
    esv25142CNV Gain19812545

    Human Gene Mutation Database (HGMD): LIPC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LIPC
    DNA2.0 Custom Variant and Variant Library Synthesis for LIPC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 151670   
    OMIM disorders: 612797  125853  614025  
    UniProtKB/Swiss-Prot: LIPC_HUMAN, P11150
  • Hepatic lipase deficiency (HL deficiency) [MIM:614025]: A disorder characterized by elevated levels of
    beta-migrating very low density lipoproteins, and abnormally triglyceride-rich low and high density lipoproteins.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for LIPC (see all 78):    About MalaCards
    hepatitis    hepatic lipase deficiency    hyperlipidemia due to hepatic triglyceride lipase deficiency    lipase deficiency combined
    benign recurrent intrahepatic cholestasis    avascular necrosis of the femoral head    hyperalphalipoproteinemia    hyperlipoproteinemia type iii
    acute porphyria    hypoalphalipoproteinemia    familial combined hyperlipidemia    coronary stenosis
    diabetes mellitus, noninsulin-dependent    diabetic angiopathy    transsexualism    hypertriglyceridemia
    aortic atherosclerosis    familial hyperlipidemia    hypercholesterolemia    familial hypercholesterolemia

    2 diseases from the University of Copenhagen DISEASES database for LIPC:
    Familial hyperlipidemia     Age related macular degeneration

    LIPC for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for LIPC gene (see all 53)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertriglyceridemia 84 37 2000816 (2), 8637399 (1), 11950708 (1), 12235167 (1) (see all 28)
    hyperalphalipoproteinemia 81.5 5 19428034 (2), 10606208 (1), 18160998 (1), 9711993 (1)
    hyperlipidemia familial combined 80.9 7 19069677 (1), 14709374 (1), 10606208 (1), 10894818 (1) (see all 5)
    alphalipoproteinemia 79 1 15382513 (1)
    lipase deficiency, combined 75.9 7 11714855 (2), 17994020 (1), 2025643 (1)
    dyslipidemia 72.4 22 12843191 (2), 12639974 (2), 11171785 (1), 16338252 (1) (see all 14)
    atherosclerosis 70.4 77 15205216 (6), 18599739 (4), 12235167 (3), 9645503 (3) (see all 35)
    hypoalphalipoproteinemia 69.1 1 15292235 (1)
    cetp deficiency 68.2 1 7583564 (1)
    hyperlipoproteinemia type iii 67.9 1 10729390 (1)

    Genatlas disease: LIPC
    coronary atherosclerosis,premature,dyslipidemia

    Genetic Association Database (GAD): LIPC
    Human Genome Epidemiology (HuGE) Navigator: LIPC (205 documents)

    Export disorders for LIPC 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)
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    PubMed articles for LIPC gene, integrated from 10 sources (see all 793):
    (articles sorted by number of sources associating them with LIPC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity in a study of 16,156 Danish subjects. (PubMed id 18364377)1, 2, 4, 9 Grarup N....Pedersen O. (J. Clin. Endocrinol. Metab. 2008)
    2. The G-250A promoter polymorphism of the hepatic lipase gene predicts the conversion from impaired glucose tolerance to type 2 diabetes mellitus: the Finnish diabetes prevention study. (PubMed id 15126514)1, 2, 4, 9 Todorova B.... Laakso M. (J. Clin. Endocrinol. Metab. 2004)
    3. Effects of gender, hepatic lipase gene polymorphism and type 2 diabetes mellitus on hepatic lipase activity in Chinese. (PubMed id 11427226)1, 4, 9 Tan K.C....Chu B.Y. (Atherosclerosis 2001)
    4. Atorvastatin dose-dependently decreases hepatic lipase activity in type 2 diabetes: effect of sex and the LIPC promoter variant. (PubMed id 12547874)1, 4, 9 Berk-Planken I.I....Jansen H. (Diabetes Care 2003)
    5. Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia. (PubMed id 19428034)1, 4, 9 Plengpanich W....Khovidhunkit W. (Metab. Clin. Exp. 2009)
    6. Genetic study of common variants at the Apo E, Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associates with clinical outcomes in patients with established CAD. (PubMed id 12964943)1, 4, 9 Baroni M.G....Galton D.J. (BMC Med. Genet. 2003)
    7. Human hepatic lipase mutations and polymorphisms. (PubMed id 1301939)1, 2, 9 Hegele R.A.... Connelly P.W. (Hum. Mutat. 1992)
    8. Ethnic differences in hepatic lipase and HDL in Japanese, black, and white Americans: role of central obesity and LIPC polymorphisms. (PubMed id 14657196)1, 4, 9 Carr M.C....Deeb S.S. (J. Lipid Res. 2004)
    9. Sources of variability in genetic association studies: insights from the analysis of hepatic lipase (LIPC). (PubMed id 11968086)1, 4, 9 Shohet R.V....Cohen J.C. (Hum. Mutat. 2002)
    10. Hepatic lipase gene variation is related to coronary reactivity in healthy young men. (PubMed id 11454011)1, 4, 9 Fan Y....LehtimAoki T. (Eur. J. Clin. Invest. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 3990 HGNC: 6619 AceView: LIPC Ensembl:ENSG00000166035 euGenes: HUgn3990
    ECgene: LIPC Kegg: 3990 H-InvDB: LIPC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LIPC Pharmacogenomics, SNPs, Pathways
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=LIPC

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LIPC gene:
    Search GeneIP for patents involving LIPC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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