lipase A, lysosomal acid type

Summary
Gene Symbol
  • LIPA
Aliases
  • CESD
  • LAL
  • Wolman disease
  • lysosomal acid lipase
  • sterol esterase
Organism
Homo sapiens (human)
NCBI Gene
3988
HGNC
6617
KEGG Gene ID
hsa:3988
PubChem
3988
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Glycoprotein
  • Hydrolase
  • Lipid degradation
  • Lysosome
  • Proteomics identification
  • Reference proteome
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A0A0MT32
P38571
  • Cholesteryl esterase
  • Diacylglycerol lipase
  • Lipase A
  • Sterol esterase
  • Triacylglycerol ester hydrolase
  • Triacylglycerol lipase
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Lipase
Functional Category
  • I: Lipid transport and metabolism
  • Q: Secondary metabolites biosynthesis, transport and catabolism
  • T: Signal transduction mechanisms
Displaying all 2 entries
InterPro
Alpha/Beta hydrolase fold
Lipase, eukaryotic
Human Protein Atlas
ENSG00000107798

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01052
Name
lysosomal acid lipase/cholesteryl ester hydrolase [EC:3.1.1.13]
References
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0080217 lysosomal acid lipase deficiency
DOID:14497 Wolman disease
DOID:14502 cholesterol ester storage disease
The Human Phenotype Ontology
Displaying entries 31 - 40 of 45 in total
HPO ID HPO Term
HP:0002634 Arteriosclerosis
HP:0003124 Hypercholesterolemia
HP:0003141 Increased LDL cholesterol concentration
HP:0003233 Decreased HDL cholesterol concentration
HP:0003270 Abdominal distention
HP:0003282 Low alkaline phosphatase
HP:0003593 Infantile onset
HP:0003621 Juvenile onset
HP:0004326 Cachexia
HP:0004333 Bone-marrow foam cells
Displaying all 4 entries
Disease ID Disease Name
OMIM:620151
  • Wolman disease
ORPHA:75233
  • Wolman disease
OMIM:278000
  • cholesteryl ester storage disease
ORPHA:75234
  • cholesteryl ester storage disease
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000369
Gene Name
lipase A, lysosomal acid, cholesterol esterase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025