Gene Gene information from NCBI Gene database.
Entrez ID 3988
Gene name Lipase A, lysosomal acid type
Gene symbol LIPA
Synonyms (NCBI Gene)
CESDLAL
Chromosome 10
Chromosome location 10q23.31
Summary 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
SNPs SNP information provided by dbSNP.
76
SNP ID Visualize variation Clinical significance Consequence
rs2228159 A>C,G,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs116928232 C>G,T Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic Synonymous variant, missense variant, coding sequence variant
rs121965086 A>G Pathogenic, pathogenic-likely-pathogenic Missense variant, coding sequence variant
rs121965087 G>C Pathogenic Intron variant, stop gained, coding sequence variant
rs139282720 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
382
miRTarBase ID miRNA Experiments Reference
MIRT018033 hsa-miR-335-5p Microarray 18185580
MIRT024588 hsa-miR-215-5p Microarray 19074876
MIRT026530 hsa-miR-192-5p Microarray 19074876
MIRT037705 hsa-miR-744-5p CLASH 23622248
MIRT054198 hsa-miR-125b-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 22723551
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
97
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle IEA
GO:0000902 Process Cell morphogenesis IEA
GO:0001523 Process Retinoid metabolic process IEA
GO:0001650 Component Fibrillar center IDA
GO:0001889 Process Liver development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613497 6617 ENSG00000107798
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P38571
Protein name Lysosomal acid lipase/cholesteryl ester hydrolase (Acid cholesteryl ester hydrolase) (LAL) (EC 3.1.1.13) (Cholesteryl esterase) (Diacylglycerol lipase) (Lipase A) (Sterol esterase) (Triacylglycerol ester hydrolase) (Triacylglycerol lipase)
Protein function Catalyzes the deacylation of cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol (PubMed:15269241, PubMed:1718995, PubMed:7204383, PubMed:8112342, PubMed:9633819). Hydrolyzes triglyc
PDB 6V7N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00561 Abhydrolase_1 80 381 alpha/beta hydrolase fold Domain
Tissue specificity TISSUE SPECIFICITY: Most abundantly expressed in brain, lung, kidney and mammary gland, a moderate expression seen in placenta and expressed at low levels in the liver and heart. {ECO:0000269|PubMed:8112342}.
Sequence
Sequence length 399
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid biosynthesis
Lysosome
Efferocytosis
Cholesterol metabolism
  LDL clearance
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
980
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely pathogenic; Pathogenic rs116928232 RCV005892122
Cardiovascular phenotype Pathogenic; Likely pathogenic rs121965086, rs116928232 RCV006342068
RCV002372140
Cholesteryl ester storage disease Likely pathogenic; Pathogenic rs1564753490, rs2133429462, rs771330022, rs121965086, rs267607218, rs780495201, rs754124986, rs116928232, rs756016704, rs181646633, rs2495596309, rs2495584347, rs1554866004, rs1457072724, rs753796180
View all (24 more)
RCV005042692
RCV003989748
RCV005042605
RCV005430456
RCV001804146
RCV000524544
RCV005050558
RCV001823874
RCV005003614
RCV005047805
RCV005040553
RCV004576145
RCV005430793
RCV005430671
RCV005430730
RCV005430619
RCV005430691
RCV005430411
RCV005430636
RCV005430568
RCV005430672
RCV005430811
RCV005430680
RCV005430758
RCV005430737
RCV005430724
RCV005430573
RCV005430772
RCV005430600
RCV004789201
RCV005049716
RCV006265333
RCV005047130
RCV005906955
RCV004818066
RCV005047230
RCV001449673
RCV004789473
RCV003987346
Colorectal cancer Likely pathogenic; Pathogenic rs116928232 RCV005892125
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity rs145163592 RCV005901643
Cervical cancer Likely benign; Uncertain significance rs113450779, rs201242614 RCV005919303
RCV005898675
Cholangiocarcinoma Conflicting classifications of pathogenicity rs147493628 RCV005891915
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs145163592 RCV005901644
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atherosclerosis Associate 14522500
Brain Diseases Metabolic Inborn Associate 22395809
Cholangiocarcinoma Associate 36107601
Cholesterol Ester Storage Disease Associate 16255772
Cirrhosis Cryptogenic Inhibit 36326406
Colorectal Neoplasms Associate 35172832
Coronary Artery Disease Associate 12972290, 21966275, 24069331, 31645127, 35192625
Coronary Disease Inhibit 12972290
Cystic Fibrosis Associate 24586523
Diabetes Mellitus Associate 22395809