Human Gene LIPC (uc010ugy.2) Description and Page Index
  Description: Homo sapiens lipase, hepatic (LIPC), mRNA.
RefSeq Summary (NM_000236): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X07228.1, D83548.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2144335 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000299022.10/ ENSP00000299022.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr15:58,724,192-58,861,073 Size: 136,882 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr15:58,724,232-58,861,026 Size: 136,795 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:58,724,192-58,861,073)mRNA (may differ from genome)Protein (438 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCLynxMGIOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E7EUK6_HUMAN
DESCRIPTION: SubName: Full=Hepatic triacylglycerol lipase;
SIMILARITY: Belongs to the AB hydrolase superfamily. Lipase family.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): LIPC
CDC HuGE Published Literature: LIPC
Positive Disease Associations: Amyotrophic lateral sclerosis , atherosclerosis, coronary , Atherosclerosis| , Blood Flow Velocity , blood pressure, arterial hypertension , bone density , cardiac death , carotid artery stenosis , cholesterol, HDL , cholesterol, HDL cholesterol, LDL , cholesterol, HDL; triglycerides , Cholesterol, total , Cognitive performance , coronary artery calcium , coronary artery disease , coronary calcification , coronary heart disease , Diabetes Mellitus, Type 2|Peripheral Vascular Diseases , diabetic nephropathy , dyslipidemia , HDL cholesterol , heritable lipolytic deficiency. , high plasma concentrations of high density lipoprotein ch , hypertension, pregnancy induced preeclampsia , increased concentration of HDL-C and decreased promoter activity , insulin , Insulin Resistance , Iron , lipoprotein subclass profiles , Lipoproteins, HDL , low hepatic lipase activity , lower levels of hepatic lipase activity buoyant LDL and higher HDL2 cholesterol , Macular Degeneration , obesity , patent ductus arteriosus , plasma HDL cholesterol (HDL-C) levels , plasma HDL-C levels , serum metabolites , triglycerides , triglycerides; insulin
Related Studies:
  1. Amyotrophic lateral sclerosis
    van Es ,et al. 2007, Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis, . [PubMed 18084291]
  2. Amyotrophic Lateral Sclerosis
    Michael A van Es et al. Nature genetics 2008, Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis., Nature genetics. [PubMed 18084291]
  3. atherosclerosis, coronary
    Baroni, M. G. et al. 2003, 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 associateswith clinical outcomes in patients with established CAD., BMC medical genetics [electronic resource]. 2003 Sep;4:8. [PubMed 12964943]
    variation in LIPC (hepatic lipase) gene associates with clinical outcomes in Italian patients with established CAD. Further studies on the LIPC gene in CAD patients are warranted, in particular looking at the possible influences on clinical outcomes.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: LIPC
Diseases sorted by gene-association score: hepatic lipase deficiency* (1690), diabetes mellitus, noninsulin-dependent* (136), hyperalphalipoproteinemia (19), lipase deficiency, combined (14), hypertriglyceridemia (13), hypoalphalipoproteinemia (12), familial hyperlipidemia (11), atherosclerosis (10), hyperlipoproteinemia, type iii (8), nodular nonsuppurative panniculitis (7), hyperlipidemia, familial combined (7), homozygous familial hypercholesterolemia (7), familial lipoprotein lipase deficiency (6), hypercholesterolemia, familial (6), lipid metabolism disorder (6), coronary artery disease (6), degeneration of macula and posterior pole (4), obesity (3), macular degeneration, age-related, 1 (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.52 RPKM in Liver
Total median expression: 29.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.1040-0.228 Picture PostScript Text
3' UTR -1.0047-0.021 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000734 - Lipase
IPR002333 - Lipase_hep
IPR008976 - Lipase_LipOase
IPR013818 - Lipase_N
IPR001024 - LipOase_LH2
IPR016272 - Lipoprotein_lipase_LIPH

Pfam Domains:
PF00151 - Lipase
PF01477 - PLAT/LH2 domain

SCOP Domains:
49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain)
53474 - alpha/beta-Hydrolases

ModBase Predicted Comparative 3D Structure on E7EUK6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004806 triglyceride lipase activity
GO:0052689 carboxylic ester hydrolase activity

Biological Process:
GO:0006629 lipid metabolic process

Cellular Component:
GO:0005576 extracellular region


-  Descriptions from all associated GenBank mRNAs
  AK292631 - Homo sapiens cDNA FLJ78301 complete cds, highly similar to Homo sapiens lipase, hepatic (LIPC), mRNA.
AK290062 - Homo sapiens cDNA FLJ78578 complete cds, highly similar to Homo sapiens lipase, hepatic (LIPC), mRNA.
BC146659 - Homo sapiens lipase, hepatic, mRNA (cDNA clone MGC:164875 IMAGE:40148028), complete cds.
AK315306 - Homo sapiens cDNA, FLJ96334, Homo sapiens lipase, hepatic (LIPC), mRNA.
X07228 - Human mRNA for hepatic triglyceride lipase (HTGL).
AK309448 - Homo sapiens cDNA, FLJ99489.
AK293324 - Homo sapiens cDNA FLJ50111 complete cds, highly similar to Hepatic triacylglycerol lipase precursor (EC 3.1.1.3).
D83548 - Homo sapiens mRNA for hepatic triglyceride lipase, complete cds.
BC132825 - Homo sapiens lipase, hepatic, mRNA (cDNA clone MGC:164456 IMAGE:40146847), complete cds.
BC136495 - Homo sapiens lipase, hepatic, mRNA (cDNA clone MGC:168107 IMAGE:9020484), complete cds.
J03895 - Human hepatic triglyceride lipase mRNA, complete cds.
J03540 - Human hepatic lipase mRNA, complete cds.
KJ897132 - Synthetic construct Homo sapiens clone ccsbBroadEn_06526 LIPC gene, encodes complete protein.
KR711723 - Synthetic construct Homo sapiens clone CCSBHm_00028876 LIPC (LIPC) mRNA, encodes complete protein.
KR711724 - Synthetic construct Homo sapiens clone CCSBHm_00028881 LIPC (LIPC) mRNA, encodes complete protein.
KR711725 - Synthetic construct Homo sapiens clone CCSBHm_00028884 LIPC (LIPC) mRNA, encodes complete protein.
KR711726 - Synthetic construct Homo sapiens clone CCSBHm_00028886 LIPC (LIPC) mRNA, encodes complete protein.
AB528021 - Synthetic construct DNA, clone: pF1KB5895, Homo sapiens LIPC gene for Hepatic triacylglycerol lipase Precursor, without stop codon, in Flexi system.
HQ258274 - Synthetic construct Homo sapiens clone IMAGE:100072583 lipase, hepatic (LIPC) gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00561 - Glycerolipid metabolism
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: AK293324, E7EUK6, E7EUK6_HUMAN, NM_000236, NP_000227
UCSC ID: uc010ugy.2
RefSeq Accession: NM_000236
Protein: E7EUK6

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK293324.1
exon count: 8CDS single in 3' UTR: no RNA size: 1484
ORF size: 1317CDS single in intron: no Alignment % ID: 99.73
txCdsPredict score: 2834.00frame shift in genome: no % Coverage: 94.61
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.