LIPE

Chr 19q13.2

lipase E, hormone sensitive type

Aliases:: HSL
MANE:: ENST00000244289.9

OMIM: 151750 ↗NCBI: 3991 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LIPE · Q05469

v62025-08-01

Predicted Aligned Error matrix for LIPE — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.4/ 100

Low

1,076 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)14%
Low(50–70)6%
Very low(< 50)44%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Insulin resistance (including lipodystrophy)
BIALLELIC, autosomal or pseudoautosomal
Severe insulin resistance and lipodystrophy syndromes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

LIPE-related familial partial lipodystrophy
0.64
hereditary disease
0.19
MODY
0.10
maturity-onset diabetes of the young type 3
0.09
transient neonatal diabetes mellitus
0.08
hyperlipoproteinemia type V
0.08
Hyperlipoproteinemia type 5
0.08
spermatogenic failure
0.08
non-syndromic male infertility due to sperm motility disorder
0.08
Hyperlipoproteinemia type 1
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Hormone-sensitive lipase

Lipase with broad substrate specificity, catalyzing the hydrolysis of triacylglycerols (TAGs), diacylglycerols (DAGs), monoacylglycerols (MAGs), cholesteryl esters and retinyl esters (PubMed:15716583, PubMed:15955102, PubMed:19800417, PubMed:8812477). Shows a preferential hydrolysis of DAGs over TAGs and MAGs and preferentially hydrolyzes the fatty acid (FA) esters at the sn-3 position of the glycerol backbone in DAGs (PubMed:19800417). Preferentially hydrolyzes FA esters at the sn-1 and sn-2 positions of the glycerol backbone in TAGs (By similarity). Catalyzes the hydrolysis of 2-arachidonoylglycerol, an endocannabinoid and of 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor (By similarity). 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 (By similarity)