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This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
LIPA (Lipase A, Lysosomal Acid Type) is a Protein Coding gene. Diseases associated with LIPA include Lysosomal Acid Lipase Deficiency and Cholesterol Ester Storage Disease. Among its related pathways are Lipoprotein metabolism and Lysosome. Gene Ontology (GO) annotations related to this gene include lipase activity and sterol esterase activity. An important paralog of this gene is LIPM.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004771 | sterol esterase activity | TAS | -- |
GO:0016298 | lipase activity | IDA | 1718995 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0016788 | hydrolase activity, acting on ester bonds | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001650 | fibrillar center | IDA | -- |
GO:0005764 | lysosome | TAS,ISS | -- |
GO:0043202 | lysosomal lumen | TAS | -- |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Lipoprotein metabolism | ||
2 | Metabolism |
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3 | Statin Pathway | ||
4 | Lysosome |
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5 | cholesterol biosynthesis III (via desmosterol) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000902 | cell morphogenesis | IEA | -- |
GO:0001816 | cytokine production | IEA | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006954 | inflammatory response | IEA | -- |
GO:0008283 | cell proliferation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cholesterol | Approved, Investigational | Pharma | Agonist | 0 | ||
Benzoic acid | Approved, Investigational | Pharma | 11 | |||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
(1S)-1-(PHENOXYMETHYL)PROPYL METHYLPHOSPHONOCHLORIDOATE | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
CE(10:0) |
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1183-04-6 |
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CE(12:0) |
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1908-11-8 |
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CE(14:0) |
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1989-52-2 |
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CE(14:1(9Z)) |
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CE(16:0) |
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601-34-3 |
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ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
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SP1: | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LIPA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LIPA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LIPA 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lipa 30 |
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Mouse (Mus musculus) |
Mammalia | Lipa 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LIPA 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LIPA 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LIPA 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LIPA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lipa 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | lipf 30 31 |
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OneToOne | |
wufb73g06 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10828 30 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001652 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG8093 32 |
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Lip3 32 |
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CG6113 32 |
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CG2772 32 |
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CG5932 32 |
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CG6753 32 |
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CG7329 32 |
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mag 31 |
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ManyToMany | |||
CG18302 32 |
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CG3635 32 |
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Lip1 32 |
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CG11608 32 |
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CG17097 32 |
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CG11598 32 |
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CG18301 32 |
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CG18530 32 |
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CG11600 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | lipl-5 30 |
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ZK6.7b 32 |
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F54F3.3 32 |
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R11G11.14 32 |
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ZK6.7a 32 |
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Y57E12B.3 32 |
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F46B6.8 32 |
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F01G10.7 32 |
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K04A8.5 32 |
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Y50E8A.7 32 |
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lipl-6 31 |
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ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TGL1 30 31 33 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR206C 30 |
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Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC1672.09 30 |
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Bread mold (Neurospora crassa) |
Ascomycetes | NCU02148 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
643938 | Uncertain Significance: Lysosomal acid lipase deficiency | 89,247,641(-) | A/C | MISSENSE_VARIANT,INTRON_VARIANT | |
648013 | Likely Pathogenic: Lysosomal acid lipase deficiency | 89,247,537(-) | C/T | SPLICE_DONOR_VARIANT,INTRON_VARIANT | |
672000 | Benign: not provided | 89,222,324(-) | A/G | INTRON_VARIANT | |
672051 | Benign: not provided | 89,225,030(-) | T/G | INTRON_VARIANT | |
684268 | Benign: not provided | 89,247,713(-) | C/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv118n27 | CNV | loss | 19166990 |
dgv273e212 | CNV | loss | 25503493 |
dgv951n100 | CNV | loss | 25217958 |
esv2759775 | CNV | loss | 17122850 |
esv3377492 | CNV | duplication | 20981092 |
nsv1038123 | CNV | loss | 25217958 |
nsv517170 | CNV | loss | 19592680 |
nsv520796 | CNV | loss | 19592680 |
nsv523061 | CNV | gain | 19592680 |
nsv551858 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lysosomal acid lipase deficiency |
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cholesterol ester storage disease |
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lysosomal and lipase deficiency |
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lipid storage disease |
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cryptogenic cirrhosis |
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