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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
  • Gene Overview
    MyGene.info: LPIN1
Location & Maps
more
  • Sequence Map
    Chr12:16535669-16589770 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      54102 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 7.90 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    LPIN1, lipin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    LPIN1, lipin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PAP1
  • Links
    NCBI Gene ID: 23175
    neXtProt AC: NX_Q14693

  • Chr Location
    2p25.1; chr2:11677545-11827409 (+)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 9266
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: LPIN1
  • Gene Tree
    Lpin1
Human Diseases
more
  • Diseases
    1 with human LPIN1 associations

Human Disease Mouse Models
       Myoglobinuria, Acute Recurrent, Autosomal Recessive   OMIM: 268200
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    83 phenotypes from 4 alleles in 7 genetic backgrounds
    20 phenotypes from multigenic genotypes
    4 images
    41 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.
  • All Mutations and Alleles
    12
  • Chemically induced (ENU)
    1
  • Gene trapped
    7
  • Spontaneous
    2
  • Targeted
    2
  • Genomic Mutations
    1 involving Lpin1
  • Incidental Mutations
    Mutagenetix , APF , CvDC
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
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  • All GO Annotations
    28
  • GO References
    11
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
    115
  • Tissues
    23
  • cDNA Data
    113
  • Literature Summary
    2
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000020593 Ensembl Gene Model | MGI Sequence Detail 54102 C57BL/6J ±  kb
transcript ENSMUST00000067124 Ensembl | MGI Sequence Detail 5581 Not Applicable  
polypeptide ENSMUSP00000070583 Ensembl | MGI Sequence Detail 924 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1652 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 113
    cDNA 113

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-9822, MGI:1354179, MGI:95552
References
more
  • Summaries
    All 81
    Developmental Gene Expression 2
    Gene Ontology 11
    Phenotypes 41
  • Earliest
    J:64452 Sweet HO, et al., fld - fatty liver dystrophy. Mouse News Lett. 1988;81:69
  • Latest
    J:231537 Wilkin RJ, et al., Murine Models of Acute Alcoholic Hepatitis and Their Relevance to Human Disease. Am J Pathol. 2016 Apr;186(4):748-60
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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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory