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PLIN1 Gene

protein-coding   GIFtS: 61
GCID: GC15M090208

Perilipin 1

(Previous name: perilipin)
(Previous symbol: PLIN)
  See PLIN1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Perilipin 11 2     FPLD42 5
PLIN1 2 3 5     perilipin1
Lipid Droplet-Associated Protein2 3     perilipin-12
PERI2 3     

External Ids:    HGNC: 90761   Entrez Gene: 53462   Ensembl: ENSG000001668197   OMIM: 1702905   UniProtKB: O602403   

Export aliases for PLIN1 gene to outside databases

Previous GC identifers: GC15M088009 GC15M066320


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PLIN1 Gene:
The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they
can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase
substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively
spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene.
(provided by RefSeq, Feb 2009)

GeneCards Summary for PLIN1 Gene:
PLIN1 (perilipin 1) is a protein-coding gene. Diseases associated with PLIN1 include familial partial lipodystrophy type 4, and placental choriocarcinoma. GO annotations related to this gene include lipid binding. An important paralog of this gene is PLIN2.

UniProtKB/Swiss-Prot: PLIN1_HUMAN, O60240
Function: Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by
hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet
formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral
lipid transfer. May modulate lipolysis and triglyceride levels

Gene Wiki entry for PLIN1 (Perilipin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PLIN1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLIN1 promoter sequence
   Search Chromatin IP Primers for PLIN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLIN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q26   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26

PLIN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLIN1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M090208:  view genomic region     (about GC identifiers)

Start:
90,207,596 bp from pter      End:
90,222,658 bp from pter
Size:
15,063 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PLIN1_HUMAN, O60240 (See protein sequence)
Recommended Name: Perilipin-1  
Size: 522 amino acids; 55990 Da
Subunit: Interacts with ABHD5 (By similarity). Interacts with CIDEC
Secondary accessions: Q8N5Y6

Explore the universe of human proteins at neXtProt for PLIN1: NX_O60240

Explore proteomics data for PLIN1 at MOPED

Post-translational modifications: 

  • Major cAMP-dependent protein kinase-substrate in adipocytes, also dephosphorylated by PP1. When phosphorylated,
    may be maximally sensitive to HSL and when unphosphorylated, may play a role in the inhibition of lipolysis, by
    acting as a barrier in lipid droplet (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PLIN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138783.1  NP_002657.3  

    ENSEMBL proteins: 
     ENSP00000300055   ENSP00000453426   ENSP00000402167  
    Reactome Protein details: O60240

    PLIN1 Human Recombinant Protein Products:

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    Novus Biologicals PLIN1 Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PLIN1

     
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    antibodies-online proteins for PLIN1 (3 products) 

     
    antibodies-online peptides for PLIN1

    PLIN1 Antibody Products:

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    antibodies-online antibodies for PLIN1 (71 products) 

    PLIN1 Assay Products:

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    antibodies-online kits for PLIN1 (18 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLIN: Perilipins

    1 InterPro protein domain:
     IPR004279 Perilipin

    Graphical View of Domain Structure for InterPro Entry O60240

    ProtoNet protein and cluster: O60240

    1 Blocks protein domain: IPB004279 Perilipin

    UniProtKB/Swiss-Prot: PLIN1_HUMAN, O60240
    Similarity: Belongs to the perilipin family


    Find genes that share domains with PLIN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLIN1_HUMAN, O60240
    Function: Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by
    hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet
    formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral
    lipid transfer. May modulate lipolysis and triglyceride levels

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008289lipid binding NAS9521880
         
    Find genes that share ontologies with PLIN1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PLIN1:
     Increased G1 DNA content 

         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Plin1):
     adipose tissue  behavior/neurological  growth/size/body  homeostasis/metabolism  integument 
     liver/biliary system  muscle 

    Find genes that share phenotypes with PLIN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PLIN1: Plin1tm1Asg Plin1tm2Lex Plin1tm1Cdl

       genOway: Develop your customized and physiologically relevant rodent model for PLIN1

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    hsa-miR-4261 hsa-miR-588 hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidPLIN1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PLIN1_HUMAN, O60240: Endoplasmic reticulum. Lipid droplet. Note=Lipid droplet surface-associated
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    peroxisome2
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0005811lipid particle TAS--

    Find genes that share ontologies with PLIN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PLIN1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Lipoprotein metabolism
    Lipid digestion, mobilization, and transport0.59
    Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3L1CAM interactions
    Developmental Biology0.63
    4Fatty acid, triacylglycerol, and ketone body metabolism
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    5Ca-dependent events
    Development Beta adrenergic receptors signaling via cAMP0.32


    Find genes that share SuperPaths with PLIN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for PLIN1
        Ca, cAMP and Lipid Signaling
    Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for PLIN1
        Development Beta-adrenergic receptors signaling via cAMP

    1 BioSystems Pathway for PLIN1
        Adipogenesis

    2 Reactome Pathways for PLIN1
        Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis
    Transcriptional regulation of white adipocyte differentiation


    1 Kegg Pathway  (Kegg details for PLIN1):
        PPAR signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLIN1
    Interactions:

        Search GeneGlobe Interaction Network for PLIN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PLIN1 (O602403 ENSP000003000554) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABHD5Q8WTS13, ENSP000003908494I2D: score=2 STRING: ENSP00000390849
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    CAV1ENSP000003391914STRING: ENSP00000339191
    FABP4ENSP000002561044STRING: ENSP00000256104
    LIPEENSP000002442894STRING: ENSP00000244289
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process NAS9521880
    GO:0016042lipid catabolic process ----
    GO:0019433triglyceride catabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with PLIN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PLIN1

    1 HMDB Compound for PLIN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    Selected Novoseek inferred chemical compound relationships for PLIN1 gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microlipid 83.9 2 15337753 (1), 16488886 (1)
    triacylglycerol 80.6 23 7665999 (3), 15537657 (2), 16527823 (2), 12407111 (1) (see all 18)
    lipid 76.4 290 8566427 (7), 7665999 (6), 15741656 (6), 9083075 (5) (see all 99)
    fatty acid 58.9 21 14671211 (1), 17447167 (1), 18068701 (1), 16938460 (1) (see all 16)
    glycerol 52.9 1 12802495 (1)
    glycerol 3-phosphate 42.1 4 18547799 (1)
    glucose 33.7 5 15182363 (1), 16129713 (1), 19797618 (1), 14693700 (1) (see all 5)
    acyl-coa 33.3 1 14527948 (1)
    cholesterol 32.2 4 15961705 (2), 15182363 (1)
    isoproterenol 31.6 1 15182363 (1)



    Find genes that share compounds with PLIN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PLIN1 gene (2 alternative transcripts): 
    NM_001145311.1  NM_002666.4  

    Unigene Cluster for PLIN1:

    Perilipin 1
    Hs.103253  [show with all ESTs]
    Unigene Representative Sequence: NM_002666
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300055(uc002boh.2) ENST00000560330 ENST00000430628(uc010upx.1)
    ENST00000531697
    miRNA
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    hsa-miR-4261 hsa-miR-588 hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidPLIN1 3' UTR sequence
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    Additional mRNA sequence: 

    AB005293.1 AK310907.1 BC031084.1 

    3 DOTS entries:

    DT.212518  DT.99999860  DT.121039232 

    Selected AceView cDNA sequences (see all 59):

    BF059304 AI208525 AI187870 CD515709 CB266260 AI014646 CA427153 CA427560 
    AI024802 AI183365 BQ003487 AI354709 BQ719620 BF197754 BC031084 AA781073 
    AL119060 CB266707 BQ722197 AI126205 CB962068 NM_002666 CB269220 F19558 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PLIN1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                                                  
    SP2:              -                                                   
    SP3:                                                                  
    SP4:                                                                  


    ECgene alternative splicing isoforms for PLIN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PLIN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTTTTTTC
    PLIN1 Expression
    About this image


    PLIN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 19 entries
             Subcutaneous White Adipocytes Cranial Subcutaneous White Adipose
             HyStem+BMP4-induced E15 cells
             soft tissue 2 ; adipocytes   
             omental adipose tissue   
     
     Bone (Muscoskeletal System)
             HyStem+BMP4-induced E15 cells
     
     Cartilage (Muscoskeletal System)
             HyStem+BMP4-induced E15 cells
     
     NULL (Uncategorized)
             Adipose-derived stromal vascular fraction and adipocytes (HiQCell)
     
     Breast (Uncategorized)
             breast ; adipocytes   
    PLIN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLIN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.103253

    UniProtKB/Swiss-Prot: PLIN1_HUMAN, O60240
    Tissue specificity: Adipocytes

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PLIN1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plin11 , 5 perilipin 11, 5 83.98(n)1
    82.49(a)1
      7 (45.11 cM)5
    1039681  NM_175640.21  NP_783571.21 
     797211645 
    chicken
    (Gallus gallus)
    Aves PLIN11 perilipin 1 59.94(n)
    48.25(a)
      415487  NM_001127439.1  NP_001120911.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    27(a)
    many ↔ many
    5(14727739-14733053)
    zebrafish
    (Danio rerio)
    Actinopterygii plin11 perilipin 1 52.3(n)
    38.21(a)
      100034463  XM_003200457.2  XP_003200505.2 
    worm
    (Caenorhabditis elegans)
    Secernentea lea-16
    Protein LEA-1, isoform g
    6(a)
    1 → many
    V(10011871-10028159) WBGene00002263


    ENSEMBL Gene Tree for PLIN1 (if available)
    TreeFam Gene Tree for PLIN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLIN1 gene
    PLIN22  PLIN52  PLIN42  PLIN32  
    1 SIMAP similar gene for PLIN1 using alignment to 2 protein entries:     PLIN1_HUMAN (see all proteins):
    PLIN2

    Find genes that share paralogs with PLIN1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PLIN1 (see all 494)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs620214911,2
    C--69932240(+) TCAGTG/TCCAGG 2 -- ds50011Minor allele frequency- T:0.50WA 2
    rs620214931,2
    C,F--69932260(+) TCAGTC/G/TCCAGG 2 -- ds50014NA CSA 7
    rs1136810151,2
    C--69932280(+) TCAGTG/TCCAGG 2 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1866147611,2
    --69932310(+) GGAGCA/GGGGCT 2 -- ds50010--------
    rs1497586581,2
    --69932329(+) TGCAAC/TAGAGT 2 -- ds50010--------
    rs1457324251,2
    --69932397(+) AAATAC/TATGGA 2 -- ds50010--------
    rs1488999251,2
    --69932494(+) GTTTGA/GCAGGC 2 -- ds50010--------
    rs1925490881,2
    --69932578(+) GTCTAA/TCTCAT 2 -- ds50010--------
    rs720330071,2
    C--69932582(+) ATCTC-/AT/ATA
    TATATATAT
    ATATA
    4 -- ds5001 cds10--------
    rs1436219411,2
    --69932607(+) ATATAC/TACACA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for PLIN1 (90207596 - 90222658 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PLIN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1660CNV Insertion18451855
    nsv904483CNV Loss21882294
    nsv904482CNV Loss21882294
    nsv904481CNV Loss21882294

    Human Gene Mutation Database (HGMD): PLIN1
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing PLIN1
    DNA2.0 Custom Variant and Variant Library Synthesis for PLIN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 170290   
    OMIM disorders: 613877  
    UniProtKB/Swiss-Prot: PLIN1_HUMAN, O60240
  • Lipodystrophy, familial partial, 4 (FPLD4) [MIM:613877]: A form of lipodystrophy characterized by loss of
    subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus,
    hypertriglyceridemia, and hypertension. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 6 diseases for PLIN1:    
    About MalaCards
    familial partial lipodystrophy type 4    placental choriocarcinoma    neutral lipid storage disease    lipid storage disease
    insulin resistance    obesity

    2 diseases from the University of Copenhagen DISEASES database for PLIN1:
    Neutral lipid storage disease     Diabetes mellitus

    Find genes that share disorders with PLIN1           About GenesLikeMe

    8 Novoseek inferred disease relationships for PLIN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 66.6 26 19797618 (3), 17353663 (3), 12917496 (2), 15001633 (2) (see all 16)
    insulin resistance 59 6 15001633 (2), 18769224 (1), 17353663 (1), 19797618 (1)
    insulin sensitivity 51.5 4 18509062 (1), 17337731 (1), 15001633 (1)
    atherosclerotic plaque 30.7 5 15961705 (4), 16836753 (1)
    necrosis 16.2 3 16938460 (1), 17882804 (1), 17272828 (1)
    inflammation 0 1 20032580 (1)
    atherosclerosis 0 1 17009729 (1)
    tumors 0 7 20081801 (2), 16938460 (1), 17882804 (1), 17272828 (1) (see all 5)

    Human Genome Epidemiology (HuGE) Navigator: PLIN1 (6 documents)

    Export disorders for PLIN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for PLIN1 gene, integrated from 10 sources (see all 211):
    (articles sorted by number of sources associating them with PLIN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and chromosomal mapping of the human homolog of perilipin (PLIN), a rat adipose tissue-specific gene, by differential display method. (PubMed id 9521880)1, 2, 3, 9 Nishiu J.... Nakamura Y. (Genomics 1998)
    2. Adoption of PERILIPIN as a unifying nomenclature for the mammalian PAT-family of intracellular lipid storage droplet proteins. (PubMed id 19638644)1, 3, 9 Kimmel A.R....Londos C. (J. Lipid Res. 2010)
    3. Perilipin deficiency and autosomal dominant partial lipodystrophy. (PubMed id 21345103)1, 2 Gandotra S.... Vigouroux C. (N. Engl. J. Med. 2011)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Perilipin expression in human adipose tissue is elevated with obesity. (PubMed id 15001633)1, 9 Kern P.A....Ranganathan G. (J. Clin. Endocrinol. Metab. 2004)
    6. Perilipin overexpression in mice protects against diet-induced obesity. (PubMed id 19797618)1, 9 Miyoshi H....Greenberg A.S. (J. Lipid Res. 2010)
    7. Perilipin is present in islets of Langerhans and protects against lipotoxicity when overexpressed in the beta-cell line INS-1. (PubMed id 19299455)1, 9 Borg J....Holm C. (Endocrinology 2009)
    8. Evidence for an important role of perilipin in the regulation of human adipocyte lipolysis. (PubMed id 12802495)1, 9 Mottagui-Tabar S....Arner P. (Diabetologia 2003)
    9. Expression of perilipin and adipophilin in nonalcoholic fatty liver disease; relevance to oxidative injury and hepatocyte ballooning. (PubMed id 20032580)1, 9 Fujii H....Ueda M. (J. Atheroscler. Thromb. 2009)
    10. Differential pattern of lipid droplet-associated proteins and de novo perilipin expression in hepatocyte steatogenesis. (PubMed id 18393390)1, 9 Straub B.K....Schirmacher P. (Hepatology 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5346 HGNC: 9076 AceView: PLIN Ensembl:ENSG00000166819 euGenes: HUgn5346
    ECgene: PLIN1 Kegg: 5346 H-InvDB: PLIN1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PLIN1 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/010

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PLIN1 gene:
    Search GeneIP for patents involving PLIN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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