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Lipa Gene Detail
Summary
  • Symbol
    Lipa
  • Name
    lysosomal acid lipase A
  • Synonyms
    Lal, Lip-1, Lip1
  • Feature Type
    protein coding gene
  • IDs
    MGI:96789
    NCBI Gene: 16889
  • Alliance
    gene page
  • Transcription Start Sites
    40 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:34469718-34504874 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 29.70 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1121 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96789
 protein coding gene Chr19:34469716-34504874 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025058
 protein coding gene Chr19:33227407-33264103 (-)
A/J MGP_AJ_G0025036
 protein coding gene Chr19:31618564-31653715 (-)
AKR/J MGP_AKRJ_G0025002
 protein coding gene Chr19:32688949-32724167 (-)
BALB/cJ MGP_BALBcJ_G0025032
 protein coding gene Chr19:31732402-31767438 (-)
C3H/HeJ MGP_C3HHeJ_G0024791
 protein coding gene Chr19:32786755-32823238 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025473
 protein coding gene Chr19:34185093-34224182 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022891
 protein coding gene Chr19:31057557-31091357 (-)
CAST/EiJ MGP_CASTEiJ_G0024261
 protein coding gene Chr19:32538115-32577674 (-)
CBA/J MGP_CBAJ_G0024768
 protein coding gene Chr19:35796207-35834370 (-)
DBA/2J MGP_DBA2J_G0024900
 protein coding gene Chr19:31520121-31555063 (-)
FVB/NJ MGP_FVBNJ_G0024861
 protein coding gene Chr19:31365986-31401445 (-)
LP/J MGP_LPJ_G0024986
 protein coding gene Chr19:33314126-33350563 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024892
 protein coding gene Chr19:35575470-35615335 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025531
 protein coding gene Chr19:32793817-32831823 (-)
PWK/PhJ MGP_PWKPhJ_G0024010
 protein coding gene Chr19:31328141-31363975 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023811
 protein coding gene Chr19:31639345-31681883 (-)
WSB/EiJ MGP_WSBEiJ_G0024325
 protein coding gene Chr19:32863417-32906678 (-)



Homology
more
  • Human Ortholog
    LIPA, lipase A, lysosomal acid type
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LIPA, lipase A, lysosomal acid type
  • Synonyms
    CESD, LAL
  • Links
    NCBI Gene ID: 3988
    neXtProt AC: NX_P38571
    UniProt: P38571

  • Chr Location
    10q23.31; chr10:89213569-89414557 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Lipa mouse models; 2 with human LIPA associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
      
IDs
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
less
  • Phenotype Summary
    74 phenotypes from 2 alleles in 2 genetic backgrounds
    5 images
    43 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
less
  • All GO Annotations
    110
  • GO References
    25
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    862
  • Tissues
    128
  • cDNA Data
    152
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024781 Ensembl Gene Model | MGI Sequence Detail 35157 C57BL/6J ±  kb
    transcript ENSMUST00000178114 Ensembl | MGI Sequence Detail 2965 Not Applicable  
    polypeptide ENSMUSP00000136967 Ensembl | MGI Sequence Detail 397 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 154
      cDNA 152
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-11809, MGD-MRK-11810, MGD-MRK-11811, MGI:2147466
    References
    more
    • Summaries
      All 86
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 25
      Phenotypes 43
    • 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:344696 Akhmetshina A, et al., Loss of lysosomal acid lipase results in mitochondrial dysfunction and fiber switch in skeletal muscles of mice. Mol Metab. 2024 Jan;79:101869
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory