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Lipa Gene Detail
Summary
  • Symbol
    Lipa
  • Name
    lysosomal acid lipase A
  • Synonyms
    Lal, Lip1, Lip-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:96789
    NCBI Gene: 16889
Location & Maps
more
  • Sequence Map
    Chr19:34492318-34527474 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      35157 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 29.70 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    LIPA, lipase A, lysosomal acid type
  • Vertebrate Orthologs
    10
  • Human Ortholog
    LIPA, lipase A, lysosomal acid type
    Orthology source: HomoloGene
  • Synonyms
    CESD, LAL
  • Links
    NCBI Gene ID: 3988
    neXtProt AC: NX_P38571

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

Human Diseases
more
  • Diseases
    1 with Lipa mouse models; 1 with human LIPA associations

Human Disease Mouse Models
       Lysosomal Acid Lipase Deficiency   OMIM: 278000 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    51 phenotypes from 1 allele in 1 genetic background
    5 images
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    426 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 152
    cDNA 151
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-11809, MGD-MRK-11810, MGD-MRK-11811, MGI:2147466
References
more
  • Summaries
    All 54
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 5
    Phenotypes 21
  • 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:229568 Ding X, et al., Establishment of lal-/- myeloid lineage cell line that resembles myeloid-derived suppressive cells. PLoS One. 2015;10(3):e0121001

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
06/15/2016
MGI 6.04
The Jackson Laboratory