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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
  • Alliance
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, HGNC
  • Synonyms
    CESD, LAL
  • Links
    NCBI Gene ID: 3988
    neXtProt AC: NX_P38571
    UniProt: P38571

  • Chr Location
    10q23.31; chr10:89213569-89252039 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    51 phenotypes from 1 allele in 1 genetic background
    5 images
    25 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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      426 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 152
      cDNA 151
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-11809, MGD-MRK-11810, MGD-MRK-11811, MGI:2147466
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 4
      Gene Ontology 5
      Phenotypes 25
    • 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:255236 Shen ZQ, et al., CISD2 Haploinsufficiency Disrupts Calcium Homeostasis, Causes Nonalcoholic Fatty Liver Disease, and Promotes Hepatocellular Carcinoma. Cell Rep. 2017 Nov 21;21(8):2198-2211

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory