• Gene id: 3988

Gene Summary

• Gene Symbol: LIPA   Gene   UCSC   Ensembl
• Aliases: CESD, LAL
• Gene name: lipase A, lysosomal acid type
• Alternate names: lysosomal acid lipase/cholesteryl ester hydrolase, acid cholesteryl ester hydrolase, cholesterol ester hydrolase, cholesteryl esterase, lipase A, lysosomal acid, cholesterol esterase, lysosomal acid lipase, sterol esterase,
• Gene location: 10q23.31 (89252038: 89213568)     Exons: 10     NC_000010.11
• Gene summary(Entrez): 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 diseas
• OMIM: 613497

Protein Summary

• Protein general information: P38571  
  • Name: Lysosomal acid lipase/cholesteryl ester hydrolase (Acid cholesteryl ester hydrolase) (LAL) (EC 3.1.1.13) (Cholesteryl esterase) (Lipase A) (Sterol esterase)
  • Length: 399  
  • Mass: 45419
• Sequence:

  MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSD
  KGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKY
  DLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIK
  DLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAV
  KFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHL
  DFIWGLDAPWRLYNKIINLMRKYQ

• Structural information:
  • Protein Domains: (80..38-)
    (/note="AB-hydrolase-1)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR029058  IPR000073  IPR025483  
  • Prosite: PS00120
  • STRING: ENSP00000337354
• Other Databases: GeneCards:  LIPA  Malacards:  LIPA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0004771	sterol esterase activity	IBA	molecular function
GO:0016125	sterol metabolic process	IBA	biological process
GO:0004771	sterol esterase activity	IDA	molecular function
GO:0004771	sterol esterase activity	IDA	molecular function
GO:0004771	sterol esterase activity	IDA	molecular function
GO:0005764	lysosome	ISS	cellular component
GO:0004771	sterol esterase activity	IMP	molecular function
GO:0016788	hydrolase activity, acting on ester bonds	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005764	lysosome	TAS	cellular component
GO:0004771	sterol esterase activity	IEA	molecular function
GO:0034383	low-density lipoprotein particle clearance	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0004771	sterol esterase activity	TAS	molecular function
GO:0030324	lung development	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0001816	cytokine production	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0048771	tissue remodeling	IEA	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016298	lipase activity	IDA	molecular function
GO:0004771	sterol esterase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa04979	Cholesterol metabolism
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Lysosomal acid lipase deficiency	KEGG:H00148
Lysosomal acid lipase deficiency	KEGG:H00148
Wolman disease	PMID:8146180
Cholesterol ester storage disease	PMID:6097111
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray