lipase A, lysosomal acid type

Summary
Gene Symbol
  • LIPA
Aliases
  • CESD
  • LAL
  • Wolman disease
  • lysosomal acid lipase
  • sterol esterase
Organism
Homo sapiens (human)
External Links
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
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 entries 11 - 20 of 116 in total
DO ID Disease Name Source
DOID:0110035 Alzheimer's disease 2
DOID:0110037 Alzheimer's disease 5
DOID:0110038 Alzheimer's disease 6
DOID:0110039 Alzheimer's disease 7
DOID:0110041 Alzheimer's disease 8
DOID:0110042 Alzheimer's disease 3
DOID:0110043 Alzheimer's disease 10
DOID:0110044 Alzheimer's disease 11
DOID:0110045 Alzheimer's disease 12
DOID:0110046 Alzheimer's disease 13
The Human Phenotype Ontology
Displaying entries 1 - 10 of 45 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000846 Adrenal insufficiency
HP:0000952 Jaundice
HP:0000989 Pruritus
HP:0001263 Global developmental delay
HP:0001394 Cirrhosis
HP:0001395 Hepatic fibrosis
HP:0001397 Hepatic steatosis
HP:0001399 Hepatic failure
HP:0001405 Periportal fibrosis
Displaying all 4 entries
Disease ID Disease Name
OMIM:278000
  • cholesteryl ester storage disease
OMIM:620151
  • Wolman disease
ORPHA:75233
  • Wolman 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

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Last updated: August 19, 2024