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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

HCOP human homology predictions: LIPA
Protein SuperFamily: Steryl_ester_lip
Gene Tree: Lipa

Human
homologs
LIPA, lipase A, lysosomal acid, cholesterol esterase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 3988
neXtProt AC: NX_P38571

Human Synonyms: CESD, LAL

Human Chr (Location): 10q23.2-q23.3; chr10:89213569-89252039 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human LIPA

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Lipa (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(5)
Interactions
Lipa interacts with 236 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process cell morphogenesis, cell proliferation, ...
Component extracellular exosome, lysosome
Function hydrolase activity, hydrolase activity, acting on ester bonds, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (154)    Tissues (127)    Images (18)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 14
RNA in situ 132
Northern blot 8
cDNA source data(151)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase lipa    NEW 
Molecular
reagents
All nucleic(152) cDNA(151) Primer pair(1)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000024781 (Evidence)
Entrez Gene 16889 (Evidence)
UniGene 157545
DFCI TC1574434, TC1585135, TC1617485, TC1740574
DoTS DT.533954, DT.55268114, DT.94145049
NIA Mouse Gene Index U038982
EC 3.1.1.13
Consensus CDS Project CCDS29760.1
International Mouse Phenotyping Consortium Status Lipa
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 IPR029058 Alpha/Beta hydrolase fold
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:221270 Zhao T, et al., Activation of mTOR pathway in myeloid-derived suppressor cells stimulates cancer cell proliferation and metastasis in lal(-/-) mice. Oncogene. 2015 Apr 9;34(15):1938-48
All references(53)
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
08/25/2015
MGI 6.0
The Jackson Laboratory