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Lpl Gene Detail
Summary
  • Symbol
    Lpl
  • Name
    lipoprotein lipase
  • Synonyms
    O 1-4-5
  • Feature Type
    protein coding gene
  • IDs
    MGI:96820
    NCBI Gene: 16956
  • Alliance
    gene page
  • Transcription Start Sites
    53 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:69333207-69359584 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 33.88 cM
  • Mapping Data
    32 experiments
Strain
Comparison
more
  • SNPs within 2kb
    728 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    10
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96820
 protein coding gene Chr8:69333143-69360100 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033663
 protein coding gene Chr8:69010062-69039365 (+)
A/J MGP_AJ_G0033645
 protein coding gene Chr8:66228223-66254877 (+)
AKR/J MGP_AKRJ_G0033570
 protein coding gene Chr8:68034099-68063983 (+)
BALB/cJ MGP_BALBcJ_G0033641
 protein coding gene Chr8:66443605-66470796 (+)
C3H/HeJ MGP_C3HHeJ_G0033351
 protein coding gene Chr8:68763960-68791512 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034158
 protein coding gene Chr8:71612060-71641079 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031105
 protein coding gene Chr8:61108965-61135418 (+)
CAST/EiJ MGP_CASTEiJ_G0032676
 protein coding gene Chr8:68204614-68232768 (+)
CBA/J MGP_CBAJ_G0033329
 protein coding gene Chr8:74299186-74329225 (+)
DBA/2J MGP_DBA2J_G0033483
 protein coding gene Chr8:65949366-65976192 (+)
FVB/NJ MGP_FVBNJ_G0033424
 protein coding gene Chr8:65101947-65130548 (+)
LP/J MGP_LPJ_G0033571
 protein coding gene Chr8:69110605-69137386 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033468
 protein coding gene Chr8:76964537-76994196 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034176
 protein coding gene Chr8:68313379-68344731 (+)
PWK/PhJ MGP_PWKPhJ_G0032385
 protein coding gene Chr8:65192192-65220188 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032221
 protein coding gene Chr8:67253940-67291716 (+)
WSB/EiJ MGP_WSBEiJ_G0032793
 protein coding gene Chr8:68681882-68711559 (+)



Homology
more
  • Human Ortholog
    LPL, lipoprotein lipase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LPL, lipoprotein lipase
  • Synonyms
    HDLCQ11, LIPD
  • Links
    NCBI Gene ID: 4023
    neXtProt AC: NX_P06858
    UniProt: P06858

  • Chr Location
    8p21.3; chr8:19901717-19967259 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Lpl mouse models; 9 with human LPL associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
IDs
IDs
 View 1 model
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    38 phenotypes from 3 alleles in 5 genetic backgrounds
    21 phenotypes from multigenic genotypes
    6 images
    84 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.
Homozygotes for targeted null mutations become cyanotic and die within 2 days of birth due to chylomicron engorgement of capillaries. Mutants show hypertriglyceridemia and reduced fat stores. Heterozygotes show 1.5-2-fold elevated triglyceride levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    81
  • GO References
    17
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
    1273
  • Tissues
    176
  • cDNA Data
    376
  • Literature Summary
    42
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16956 NCBI Gene Model | MGI Sequence Detail 26378 C57BL/6J ±  kb
    transcript NM_008509 RefSeq | MGI Sequence Detail 4049 ZRU/MplStud  
    polypeptide P11152 UniProt | EBI | MGI Sequence Detail 474 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 396
      Genomic 6
      cDNA 382
      Primer pair 6
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-11871
    References
    more
    • Summaries
      All 243
      Developmental Gene Expression 42
      Diseases 4
      Gene Ontology 17
      Phenotypes 84
    • Earliest
      J:8759 Kirchgessner TG, et al., The sequence of cDNA encoding lipoprotein lipase. A member of a lipase gene family. J Biol Chem. 1987 Jun 25;262(18):8463-6
    • Latest
      J:353478 Farley A, et al., Activation of VGLL4 Suppresses Cardiomyocyte Maturational Hypertrophic Growth. Cells. 2024 Aug 13;13(16)
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory