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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LIPE
lipase E, hormone sensitive type
Chromosome 19 Β· 19q13.2
NCBI Gene: 3991Ensembl: ENSG00000079435.11HGNC: HGNC:6621UniProt: A8K8W7
114PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
diacylglycerol lipase activityretinyl-palmitate esterase activityprotein bindingcytosolLIPE-related familial partial lipodystrophyfamilial partial lipodystrophy, Dunnigan typegenetic disorderazoospermia
✦AI Summary

LIPE (lipase E, hormone sensitive type) is a hormone-sensitive lipase with broad substrate specificity that catalyzes the hydrolysis of multiple lipid classes including triacylglycerols (TAGs), diacylglycerols (DAGs), monoacylglycerols (MAGs), cholesteryl esters, and retinyl esters. The enzyme shows preferential hydrolysis of DAGs over TAGs and MAGs, with specificity for fatty acid esters at the sn-3 position of the glycerol backbone in DAGs. In adipose tissue and heart, LIPE primarily hydrolyzes stored triglycerides to release free fatty acids, while in steroidogenic tissues it converts cholesteryl esters to free cholesterol for steroid hormone synthesis [33794741]. The enzyme also catalyzes hydrolysis of endocannabinoids and lipid precursors involved in inflammatory signaling pathways. LIPE localizes to the cytosol and lipid droplets, where it functions in lipid catabolism and energy mobilization. Mutations in LIPE are associated with familial partial lipodystrophy type 6, highlighting the critical role of this enzyme in normal lipid metabolism and adipose tissue function. The hormone-sensitive regulation of LIPE activity enables dynamic control of lipid breakdown in response to metabolic demands.

Sources cited
1
LIPE/HSL catalyzes hydrolysis of TAGs, DAGs, MAGs, cholesteryl esters, and retinyl esters; in adipose tissue and heart hydrolyzes stored triglycerides to free fatty acids; in steroidogenic tissues converts cholesteryl esters to free cholesterol for steroid hormone production
PMID: 33794741
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
LIPE-related familial partial lipodystrophyOpen Targets
0.64Moderate
familial partial lipodystrophy, Dunnigan typeOpen Targets
0.47Moderate
genetic disorderOpen Targets
0.19Weak
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
isochromosomy YpOpen Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
isochromosomy YqOpen Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
Lipodystrophy, familial partial, 6UniProt
Pathogenic Variants5
NM_005357.4(LIPE):c.2152C>T (p.Arg718Ter)Likely pathogenic
LIPE-related familial partial lipodystrophy
β˜…β˜…β˜†β˜†2024β†’ Residue 718
NM_005357.4(LIPE):c.235del (p.Gln79fs)Pathogenic
Lipodystrophy - childhood onset
β˜…β˜†β˜†β˜†2024β†’ Residue 79
NM_005357.4(LIPE):c.1111_1120dup (p.Arg374fs)Pathogenic
Lipodystrophy - childhood onset
β˜…β˜†β˜†β˜†2024β†’ Residue 374
NM_005357.4(LIPE):c.3103G>T (p.Glu1035Ter)Likely pathogenic
LIPE-related familial partial lipodystrophy|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1035
NM_005357.4(LIPE):c.1519_1520dup (p.Ser508fs)Pathogenic
LIPE-related familial partial lipodystrophy
β˜†β˜†β˜†β˜†2014β†’ Residue 508
View on ClinVar β†—
Related Genes
APOEProtein interaction100%PLIN1Protein interaction100%PRKACAProtein interaction99%PRKACGProtein interaction99%PRKACBProtein interaction99%LPLProtein interaction94%
Tissue Expression6 tissues
Brain
100%
Heart
83%
Ovary
20%
Bone Marrow
18%
Lung
11%
Liver
5%
Gene Interaction Network
Click a node to explore
LIPEAPOEPLIN1PRKACAPRKACGPRKACBLPL
PROTEIN STRUCTURE
Preparing viewer…
PDB8ZVQ Β· 3.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.93LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.62–0.93]
RankingsWhere LIPE stands among ~20K protein-coding genes
  • #4,152of 20,598
    Most Researched114 Β· top quartile
  • #3,518of 5,498
    Most Pathogenic Variants5
  • #8,612of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedLIPE
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Daratumumab, Bortezomib, and Dexamethasone for Multiple Myeloma.
PMID: 27557302
N Engl J Med Β· 2016
1.00
2
The mΓ©nage Γ  trois of autophagy, lipid droplets and liver disease.
PMID: 33794741
Autophagy Β· 2022
0.90
3
Consensus guidelines and recommendations for infection prevention in multiple myeloma: a report from the International Myeloma Working Group.
PMID: 35114152
Lancet Haematol Β· 2022
0.80
4
International myeloma working group consensus recommendations on imaging in monoclonal plasma cell disorders.
PMID: 31162104
Lancet Oncol Β· 2019
0.70
5
Extraction vs nonextraction orthodontic treatment: a systematic review and meta-analysis.
PMID: 37899069
Angle Orthod Β· 2024
0.60