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    Plin1 perilipin 1 [ Mus musculus (house mouse) ]

    Gene ID: 103968, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Plin1provided by MGI
    Official Full Name
    perilipin 1provided by MGI
    Primary source
    MGI:MGI:1890505
    See related
    Ensembl:ENSMUSG00000030546 AllianceGenome:MGI:1890505
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Peri; Plin; 6030432J05Rik
    Summary
    Acts upstream of or within cellular response to cold and lipid catabolic process. Located in cytosol and lipid droplet. Is expressed in blood vessel and connective tissue. Human ortholog(s) of this gene implicated in familial partial lipodystrophy type 4 and obesity. Orthologous to human PLIN1 (perilipin 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in subcutaneous fat pad adult (RPKM 403.0), mammary gland adult (RPKM 366.1) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Plin1 in Genome Data Viewer
    Location:
    7 D2; 7 45.11 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (79370912..79382652, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (79721164..79732904, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E551 Neighboring gene TOPBP1-interacting checkpoint and replication regulator Neighboring gene uncharacterized LOC118567517 Neighboring gene kinesin family member 7 Neighboring gene STARR-positive B cell enhancer mm9_chr7:86873152-86873453 Neighboring gene peroxisomal biogenesis factor 11 alpha Neighboring gene WD repeat domain 93

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
      Title: Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
    2. BAP31 depletion inhibited adipogenesis, repressed lipolysis and promoted lipid droplets abnormal growth via attenuating Perilipin1 proteasomal degradation.
      Title: BAP31 depletion inhibited adipogenesis, repressed lipolysis and promoted lipid droplets abnormal growth via attenuating Perilipin1 proteasomal degradation.
    3. Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.
      Title: Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.
    4. [CRISPR/Cas9 knockout plin1 enhances lipolysis in 3T3-L1 adipocytes].
      Title: [CRISPR/Cas9 knockout plin1 enhances lipolysis in 3T3-L1 adipocytes].
    5. Sulfhydration is a novel post-translation modification of perilipin 1. Perilipin 1 sulfhydration lowers its phosphorylation to inhibit lipolysis. Cystathionine gamma lyase is major key enzyme of hydrogen sulfide generation controlling perilipin 1 sulfhydration.
      Title: Sulfhydration of perilipin 1 is involved in the inhibitory effects of cystathionine gamma lyase/hydrogen sulfide on adipocyte lipolysis.
    6. Overexpressed PLIN1 in macrophages had a protected role against atheroma progression in ApoeKO in the absence of changes in gonadal fat mass or plasma lipid levels, presumably due to modification of the stability and/or inflammatory profile of macrophages.
      Title: Overexpression of perilipin1 protects against atheroma progression in apolipoprotein E knockout mice.
    7. Hypertension in Plin1-/- mice might occur as a deleterious consequence of perivascular adipose tissue dysfunction.
      Title: Spontaneous hypertension occurs with adipose tissue dysfunction in perilipin-1 null mice.
    8. Plin1 is required to restrain fat loss and pro-inflammatory responses in adipose tissue by reducing futile lipolysis to maintain metabolic homeostasis.
      Title: Perilipin 1 (Plin1) deficiency promotes inflammatory responses in lean adipose tissue through lipid dysregulation.
    9. This mouse model might mimic and explain the pathogenesis of hepatosteatosis occurring in two typical disorders of adipose tissue dysfunction, obesity and lipodystrophy, particularly in lipodystrophic patients with Plin1 mutation.
      Title: Spontaneous development of hepatosteatosis in perilipin-1 null mice with adipose tissue dysfunction.
    10. IP6K1 is a novel regulator of PLIN1 mediated lipolysis
      Title: Inositol hexakisphosphate kinase-1 interacts with perilipin1 to modulate lipolysis.
    Submit: New GeneRIF Correction See all GeneRIFs (53)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cellular response to cold IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within lipid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lipid droplet ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lipid droplet TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    perilipin-1
    Names
    lipid droplet-associated protein
    perilipin A
    perilipin B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001113471.1 → NP_001106942.1  perilipin-1

      See identical proteins and their annotated locations for NP_001106942.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      BC037748, BC096685, CJ060785
      Consensus CDS
      CCDS21385.1
      UniProtKB/Swiss-Prot
      Q4V9U2, Q8C0F5, Q8CGN5
      Related
      ENSMUSP00000146028.2, ENSMUST00000205915.2
      Conserved Domains (1) summary
      pfam03036
      Location:14 → 391
      Perilipin; Perilipin family

    2. NM_175640.2 → NP_783571.2  perilipin-1

      See identical proteins and their annotated locations for NP_783571.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      BC037748, BC096685, BY723040
      Consensus CDS
      CCDS21385.1
      UniProtKB/Swiss-Prot
      Q4V9U2, Q8C0F5, Q8CGN5
      Related
      ENSMUSP00000032762.8, ENSMUST00000032762.14
      Conserved Domains (1) summary
      pfam03036
      Location:14 → 391
      Perilipin; Perilipin family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      79370912..79382652 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011250776.3 → XP_011249078.1  perilipin-1 isoform X1

      See identical proteins and their annotated locations for XP_011249078.1

      UniProtKB/Swiss-Prot
      Q4V9U2, Q8C0F5, Q8CGN5
      Conserved Domains (1) summary
      pfam03036
      Location:14 → 391
      Perilipin; Perilipin family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CGN5.2 GenPept UniProtKB/Swiss-Prot:Q8CGN5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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