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Lipa
Gene Detail
 Symbol
Name
ID
Lipa
lysosomal acid lipase A
MGI:96789
Synonyms Lal, Lip1, Lip-1
Feature Type protein coding gene
Genetic Map
Chromosome 19
29.70 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr19:34492318-34527474 bp, - strand
From Ensembl annotation of GRCm38

  35157 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37277  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: Steryl_ester_lip
Gene Tree: Lipa

Human
homologs
Human Homolog LIPA, lipase A, lysosomal acid, cholesterol esterase
NCBI Gene ID 3988
neXtProt AC  NX_P38571
Human Synonyms  CESD, LAL
Human Chr (Location)  10q23.2-q23.3; chr10:89213569-89252039 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human LIPA
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice show massive accumulation of triglycerides and cholesteryl esters in several organs, depletion of white and brown fat, hepatosplenomegaly, increased energy intake and plasma free fatty acid levels, insulin resistance, lung inflammation, alveolar destruction and premature death.
 
Human Diseases Modeled Using Mouse Lipa (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(5)
Interactions
Lipa interacts with 237 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process cell morphogenesis, cell proliferation, ...
Component extracellular vesicular exosome, lysosome
Function hydrolase activity, hydrolase activity, acting on ester bonds, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (154)    Tissues (127)    Images (18)
Theiler Stages: 20, 22, 24, 28
Assay TypeResults
Immunohistochemistry 14
RNA in situ 132
Northern blot 8
cDNA source data(151)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(152) cDNA(151) Primer pair(1)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000024781 (Evidence)
Entrez Gene16889 (Evidence)
UniGene157545
DFCITC1574434, TC1585135, TC1617485, TC1740574
DoTSDT.533954, DT.55268114, DT.94145049
NIA Mouse Gene IndexU038982
EC3.1.1.13
Consensus CDS ProjectCCDS29760.1
International Mouse Knockout Project StatusLipa
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024781 Ensembl Gene Model | MGI Sequence Detail 35157 C57BL/6J ±  kb
transcript ENSMUST00000049572 Ensembl | MGI Sequence Detail 2969 Not Applicable 
polypeptide ENSMUSP00000053270 Ensembl | MGI Sequence Detail 397 Not Applicable 

For the selected sequences
All sequences(60) RefSeq(4) UniProt(3)
Polymorphisms SNPs within 2kb(426 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000073 Alpha/beta hydrolase fold-1
InterPro IPR025483 Lipase, eukaryotic
InterPro IPR006693 Partial AB-hydrolase lipase domain
Protein Ontology PR:000009832 lysosomal acid lipase/cholesteryl ester hydrolase
References (Earliest) J:6617 Koch G, et al., Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19. Somatic Cell Genet. 1981 May;7(3):345-58
(Latest) J:211848 Chuang JC, et al., Ezetimibe markedly attenuates hepatic cholesterol accumulation and improves liver function in the lysosomal acid lipase-deficient mouse, a model for cholesteryl ester storage disease. Biochem Biophys Res Commun. 2014 Jan 17;443(3):1073-7
All references(50)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-11809, MGD-MRK-11810, MGD-MRK-11811, MGI:2147466

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory