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Lpin1 Gene Detail
Summary
  • Symbol
    Lpin1
  • Name
    lipin 1
  • Synonyms
    Lipin1, mKIAA0188
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891340
    NCBI Gene: 14245
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:16585670-16696967 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 7.90 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1620 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891340
 protein coding gene Chr12:16585670-16697020 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019609
 protein coding gene Chr12:13929269-13984002 (-)
A/J MGP_AJ_G0019576
 protein coding gene Chr12:13441211-13496680 (-)
AKR/J MGP_AKRJ_G0019546
 protein coding gene Chr12:14090687-14145670 (-)
BALB/cJ MGP_BALBcJ_G0019552
 protein coding gene Chr12:13683649-13737881 (-)
C3H/HeJ MGP_C3HHeJ_G0019357
 protein coding gene Chr12:13991980-14046655 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020000
 protein coding gene Chr12:14392201-14446077 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017626
 protein coding gene Chr12:12941444-12996072 (-)
CAST/EiJ MGP_CASTEiJ_G0018912
 protein coding gene Chr12:13868266-13926191 (-)
CBA/J MGP_CBAJ_G0019328
 protein coding gene Chr12:15186031-15241489 (-)
DBA/2J MGP_DBA2J_G0019441
 protein coding gene Chr12:13359639-13413821 (-)
FVB/NJ MGP_FVBNJ_G0019432
 protein coding gene Chr12:13237101-13293392 (-)
LP/J MGP_LPJ_G0019512
 protein coding gene Chr12:14040887-14096964 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019467
 protein coding gene Chr12:15089467-15148336 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020039
 protein coding gene Chr12:13773373-13830341 (-)
PWK/PhJ MGP_PWKPhJ_G0018678
 protein coding gene Chr12:13389897-13445187 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018468
 protein coding gene Chr12:13991050-14046546 (-)
WSB/EiJ MGP_WSBEiJ_G0018963
 protein coding gene Chr12:13885931-13939575 (-)



Homology
more
  • Human Ortholog
    LPIN1, lipin 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LPIN1, lipin 1
  • Synonyms
    PAP1
  • Links
    NCBI Gene ID: 23175
    neXtProt AC: NX_Q14693
    UniProt: Q14693

  • Chr Location
    2p25.1; chr2:11677544-11827409 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Lpin1 mouse models; 1 with human LPIN1 associations

Human Disease Mouse Models
      
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
    24 phenotypes from 3 alleles in 3 genetic backgrounds
    94 phenotypes from multigenic genotypes
    4 images
    53 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
ENU-induced mutants show transient hindlimb paralysis, demyelination and myelin sheath defects. Spontaneous mutants show neonatal fatty liver and hypertriglyceridemia, runting, male sterility, peripheral neuropathy, and altered hair growth, myelination, adipogenesis and lipid and glucose metabolism.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    54
  • GO References
    18
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
    789
  • Tissues
    24
  • cDNA Data
    114
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020593 Ensembl Gene Model | MGI Sequence Detail 111298 C57BL/6J ±  kb
    transcript ENSMUST00000238839 Ensembl | MGI Sequence Detail 5430 Not Applicable  
    polypeptide ENSMUSP00000158955 Ensembl | MGI Sequence Detail 973 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 115
      cDNA 114
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9822, MGI:1354179, MGI:95552
    References
    more
    • Summaries
      All 121
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 18
      Phenotypes 53
    • Earliest
      J:9801 Langner CA, et al., The fatty liver dystrophy (fld) mutation. A new mutant mouse with a developmental abnormality in triglyceride metabolism and associated tissue-specific defects in lipoprotein lipase and hepatic lipase activities. J Biol Chem. 1989 May 15;264(14):7994-8003
    • Latest
      J:314473 Chambers KT, et al., Myocardial Lipin 1 knockout in mice approximates cardiac effects of human LPIN1 mutations. JCI Insight. 2021 May 10;6(9)
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    07/26/2022
    MGI 6.21     		The Jackson Laboratory