Human Gene LIPE (ENST00000244289.9_8) from GENCODE V47lift37
  Description: lipase E, hormone sensitive type (from RefSeq NM_005357.4)
Gencode Transcript: ENST00000244289.9_8
Gencode Gene: ENSG00000079435.11_12
Transcript (Including UTRs)
   Position: hg19 chr19:42,905,666-42,931,540 Size: 25,875 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr19:42,905,964-42,931,301 Size: 25,338 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:42,905,666-42,931,540)mRNA (may differ from genome)Protein (1076 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LIPS_HUMAN
DESCRIPTION: RecName: Full=Hormone-sensitive lipase; Short=HSL; EC=3.1.1.79;
FUNCTION: In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production.
CATALYTIC ACTIVITY: Diacylglycerol + H(2)O = monoacylglycerol + a carboxylate.
CATALYTIC ACTIVITY: Triacylglycerol + H(2)O = diacylglycerol + a carboxylate.
CATALYTIC ACTIVITY: Monoacylglycerol + H(2)O = glycerol + a carboxylate.
ENZYME REGULATION: Rapidly activated by cAMP-dependent phosphorylation under the influence of catecholamines. Dephosphorylation and inactivation are controlled by insulin.
PATHWAY: Glycerolipid metabolism; triacylglycerol degradation.
SUBUNIT: Interacts with PTRF in the adipocyte cytoplasm.
SUBCELLULAR LOCATION: Cell membrane. Membrane, caveola. Cytoplasm, cytosol. Note=Found in the high-density caveolae. Translocates to the cytoplasm from the caveolae upon insulin stimulation.
PTM: Phosphorylation by AMPK may block translocation to lipid droplets (By similarity).
SIMILARITY: Belongs to the 'GDXG' lipolytic enzyme family.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/lipe/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LIPE
Diseases sorted by gene-association score: lipodystrophy, familial partial, type 6* (1250), lipe-related familial partial lipodystrophy* (400), lipodystrophy (11), hyperlipidemia, familial combined (8), lipomatosis, multiple symmetric (7), congenital epulis (6), obesity (5), diabetes mellitus, noninsulin-dependent (2), overnutrition (1)
* = 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
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 140.87 RPKM in Adipose - Subcutaneous
Total median expression: 480.63 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 -58.00239-0.243 Picture PostScript Text
3' UTR -131.80298-0.442 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
IPR013094 - AB_hydrolase_3
IPR010468 - HSL_N
IPR002168 - Lipase_GDXG_AS

Pfam Domains:
PF06350 - Hormone-sensitive lipase (HSL) N-terminus
PF07859 - alpha/beta hydrolase fold
PF10340 - Steryl acetyl hydrolase

SCOP Domains:
53474 - alpha/beta-Hydrolases

ModBase Predicted Comparative 3D Structure on Q05469
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004806 triglyceride lipase activity
GO:0005515 protein binding
GO:0016298 lipase activity
GO:0016787 hydrolase activity
GO:0017171 serine hydrolase activity
GO:0019901 protein kinase binding
GO:0033878 hormone-sensitive lipase activity

Biological Process:
GO:0006468 protein phosphorylation
GO:0006629 lipid metabolic process
GO:0008152 metabolic process
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0016042 lipid catabolic process
GO:0019433 triglyceride catabolic process
GO:0042758 long-chain fatty acid catabolic process
GO:0046340 diacylglycerol catabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005811 lipid particle
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  LF207561 - JP 2014500723-A/15064: Polycomb-Associated Non-Coding RNAs.
BC070041 - Homo sapiens lipase, hormone-sensitive, mRNA (cDNA clone MGC:87080 IMAGE:5296155), complete cds.
AX113509 - Sequence 1 from Patent WO0126664.
U40002 - Human hormone-sensitive lipase testicular isoform mRNA, complete cds.
JD099196 - Sequence 80220 from Patent EP1572962.
AK292482 - Homo sapiens cDNA FLJ75224 complete cds, highly similar to Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.
LF367109 - JP 2014500723-A/174612: Polycomb-Associated Non-Coding RNAs.
BC029301 - Homo sapiens lipase, hormone-sensitive, mRNA (cDNA clone IMAGE:5169931).
BC029961 - Homo sapiens lipase, hormone-sensitive, mRNA (cDNA clone IMAGE:5171623).
CU687024 - Synthetic construct Homo sapiens gateway clone IMAGE:100023019 5' read LIPE mRNA.
AK309893 - Homo sapiens cDNA, FLJ99934.
JD062619 - Sequence 43643 from Patent EP1572962.
JD066117 - Sequence 47141 from Patent EP1572962.
JD048618 - Sequence 29642 from Patent EP1572962.
JD074045 - Sequence 55069 from Patent EP1572962.
JD455932 - Sequence 436956 from Patent EP1572962.
JD270041 - Sequence 251065 from Patent EP1572962.
JD241691 - Sequence 222715 from Patent EP1572962.
JD267588 - Sequence 248612 from Patent EP1572962.
JD113107 - Sequence 94131 from Patent EP1572962.
MA602686 - JP 2018138019-A/174612: Polycomb-Associated Non-Coding RNAs.
MA443138 - JP 2018138019-A/15064: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
LIPAS-PWY - triacylglycerol degradation

Reactome (by CSHL, EBI, and GO)

Protein Q05469 (Reactome details) participates in the following event(s):

R-HSA-163489 phosphorylated HSL + H2O -> HSL + orthophosphate
R-HSA-163602 2 phosphorylated HSL monomers -> phosphorylated HSL dimer
R-HSA-163416 hormone-sensitive lipase (HSL) + 2 ATP -> phosphorylated HSL + 2 ADP
R-HSA-163554 Phosphorylated HSL dimer translocates from the cytosol to the lipid particle
R-HSA-163549 phosphorylated HSL dimer + FABP4 -> phosphorylated HSL dimer:FABP4 complex
R-HSA-163551 triacylglycerol + H2O -> diacylglycerol + fatty acid
R-HSA-163402 diacylglycerol + H2O -> 2-acylglycerol + fatty acid
R-HSA-163432 cholesterol ester + H2O -> cholesterol + fatty acid
R-HSA-163560 Triglyceride catabolism
R-HSA-8979227 Triglyceride metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000244289.1, ENST00000244289.2, ENST00000244289.3, ENST00000244289.4, ENST00000244289.5, ENST00000244289.6, ENST00000244289.7, ENST00000244289.8, LIPS_HUMAN, NM_005357, Q05469, Q3LRT2, Q6NSL7, uc317eof.1, uc317eof.2
UCSC ID: ENST00000244289.9_8
RefSeq Accession: NM_005357.4
Protein: Q05469 (aka LIPS_HUMAN)

-  Gene Model Information
  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.