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    LIPC lipase C, hepatic type [ Homo sapiens (human) ]

    Gene ID: 3990, updated on 11-Nov-2018

    Summary

    Official Symbol
    LIPCprovided by HGNC
    Official Full Name
    lipase C, hepatic typeprovided by HGNC
    Primary source
    HGNC:HGNC:6619
    See related
    Ensembl:ENSG00000166035 MIM:151670; Vega:OTTHUMG00000132632
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HL; HTGL; LIPH; HDLCQ12
    Summary
    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]
    Expression
    Biased expression in liver (RPKM 24.9) and kidney (RPKM 1.5) See more
    Orthologs

    Genomic context

    See LIPC in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (58410457..58568952)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (58702953..58861073)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928635 Neighboring gene MT-ND6 pseudogene 23 Neighboring gene aquaporin 9 Neighboring gene ribosomal protein L28 pseudogene 4 Neighboring gene LIPC antisense RNA 1 Neighboring gene ADAM metallopeptidase domain 10 Neighboring gene guanine nucleotide binding protein (G protein), gamma 10 pseudogene Neighboring gene high mobility group box 1 pseudogene 51

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Diabetes mellitus type 2
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    not available
    Hepatic lipase deficiency
    MedGen: C3151466 OMIM: 614025 GeneReviews: Not available
    Compare labs
    High density lipoprotein cholesterol level quantitative trait locus 12
    MedGen: C2675071 OMIM: 612797 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    NHGRI GWA Catalog
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    NHGRI GWA Catalog
    A genome-wide assessment of variability in human serum metabolism.
    NHGRI GWA Catalog
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common genetic variation and performance on standardized cognitive tests.
    NHGRI GWA Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    NHGRI GWA Catalog
    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
    NHGRI GWA Catalog
    Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
    NHGRI GWA Catalog
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    NHGRI GWA Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
    NHGRI GWA Catalog
    Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
    NHGRI GWA Catalog
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    NHGRI GWA Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    NHGRI GWA Catalog
    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
    NHGRI GWA Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
    NHGRI GWA Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    NHGRI GWA Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    NHGRI GWA Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    NHGRI GWA Catalog
    Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
    NHGRI GWA Catalog
    Seven new loci associated with age-related macular degeneration.
    NHGRI GWA Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    NHGRI GWA Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    apolipoprotein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    low-density lipoprotein particle binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phospholipase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    triglyceride lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    triglyceride lipase activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    high-density lipoprotein particle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    hepatic triacylglycerol lipase
    Names
    Triacylglycerol lipase
    hepatic lipase
    lipase member C
    lipase, hepatic
    NP_000227.2
    XP_005254429.1
    XP_005254431.2
    XP_006720565.1
    XP_016877665.1
    XP_024305684.1
    XP_024305685.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011465.1 RefSeqGene

      Range
      5001..141899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000236.2NP_000227.2  hepatic triacylglycerol lipase precursor

      See identical proteins and their annotated locations for NP_000227.2

      Status: REVIEWED

      Source sequence(s)
      AI823349, AK315306, AV645541, BC146659, D83548
      Consensus CDS
      CCDS10166.1
      UniProtKB/Swiss-Prot
      P11150
      UniProtKB/TrEMBL
      A6H8L5
      Related
      ENSP00000299022.5, OTTHUMP00000163470, ENST00000299022.9, OTTHUMT00000255879
      Conserved Domains (2) summary
      cd01758
      Location:352487
      PLAT_LPL; PLAT/ LH2 domain present in lipoprotein lipase (LPL). LPL is a key enzyme in catabolism of plasma lipoprotein triglycerides (TGs) and has therefeore has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the ...
      pfam00151
      Location:24349
      Lipase; Lipase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      58410457..58568952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449916.1XP_024305684.1  hepatic triacylglycerol lipase isoform X2

      Related
      ENSP00000348425.6, ENST00000356113.10
      Conserved Domains (2) summary
      cd01758
      Location:352487
      PLAT_LPL; PLAT/ LH2 domain present in lipoprotein lipase (LPL). LPL is a key enzyme in catabolism of plasma lipoprotein triglycerides (TGs) and has therefeore has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the ...
      pfam00151
      Location:24349
      Lipase; Lipase
    2. XM_005254372.1XP_005254429.1  hepatic triacylglycerol lipase isoform X2

      See identical proteins and their annotated locations for XP_005254429.1

      UniProtKB/Swiss-Prot
      P11150
      Related
      ENSP00000395569.3, OTTHUMP00000247337, ENST00000414170.7, OTTHUMT00000416209
      Conserved Domains (2) summary
      cd01758
      Location:352487
      PLAT_LPL; PLAT/ LH2 domain present in lipoprotein lipase (LPL). LPL is a key enzyme in catabolism of plasma lipoprotein triglycerides (TGs) and has therefeore has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the ...
      pfam00151
      Location:24349
      Lipase; Lipase
    3. XM_024449917.1XP_024305685.1  hepatic triacylglycerol lipase isoform X2

      Conserved Domains (2) summary
      cd01758
      Location:352487
      PLAT_LPL; PLAT/ LH2 domain present in lipoprotein lipase (LPL). LPL is a key enzyme in catabolism of plasma lipoprotein triglycerides (TGs) and has therefeore has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the ...
      pfam00151
      Location:24349
      Lipase; Lipase
    4. XM_006720502.4XP_006720565.1  hepatic triacylglycerol lipase isoform X3

      Conserved Domains (3) summary
      TIGR03230
      Location:15450
      lipo_lipase; lipoprotein lipase
      cd00707
      Location:2298
      Pancreat_lipase_like; Pancreatic lipase-like enzymes. Lipases are esterases that can hydrolyze long-chain acyl-triglycerides into di- and monoglycerides, glycerol, and free fatty acids at a water/lipid interface. A typical feature of lipases is "interfacial activation," the ...
      cd01758
      Location:305440
      PLAT_LPL; PLAT/ LH2 domain present in lipoprotein lipase (LPL). LPL is a key enzyme in catabolism of plasma lipoprotein triglycerides (TGs) and has therefeore has a profound influence on triglyceride and high-density lipoprotein (HDL) cholesterol levels in the ...
    5. XM_017022176.1XP_016877665.1  hepatic triacylglycerol lipase isoform X4

    6. XM_005254374.4XP_005254431.2  hepatic triacylglycerol lipase isoform X1

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