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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PLIN1 Gene

protein-coding   GIFtS: 62
GCID: GC15M090208

perilipin 1

(Previous name: perilipin )
(Previous symbol: PLIN)
 Explore 31 diseases affiliated with
PLIN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PLIN1    

Aliases
for PLIN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Perilipin 11 2     Perilipin1
PLIN1 2 3 5     FPLD42
Lipid Droplet-Associated Protein2 3     Perilipin-11
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


Summaries
for PLIN1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PLIN1:
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)

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

Gene Wiki entry for PLIN1 (Perilipin)


Genomic Views
for PLIN1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010274.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PLIN1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PLIN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PLIN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PLIN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Lipid droplet (By similarity). Note=Lipid droplet surface-associated (By similarity)
Secondary accessions: Q8N5Y6

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60240

    • PLIN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000300055   ENSP00000453426   ENSP00000402167  
    Reactome Protein details: O60240
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein: PLIN1
    OriGene Protein Over-expression Lysate (see all 2): PLIN1
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    Novus Biologicals PLIN1 Proteins
    Novus Biologicals PLIN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PLIN1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005811lipid particle TAS--


    PLIN1 for ontologies           About GeneDecksing



    PLIN1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of PLIN1
    R&D Systems Antibodies for PLIN1 (Perilipin)
    Cell Signaling Technology (CST) Antibodies for PLIN1  (perilipin)
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    Novus Biologicals PLIN1 Antibodies
    Search for Antibodies for PLIN1 at Abcam  
    Uscn Antibodies for PLIN1
    ThermoFisher Antibodies for PLIN1

    Assay Products for PLIN1: 
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    Uscn ELISAs and CLIAs for PLIN1

    Protein Domains /
    Families
    for PLIN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PLIN1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004279 Perilipin

    Graphical View of Domain Structure for InterPro Entry O60240

    ProtoNet protein and cluster: O60240

    1 Blocks protein family: IPB004279 Perilipin

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


    Function
    for PLIN1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): PLIN1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLIN1
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate PLIN1:
    hsa-miR-4261 hsa-miR-588 hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmid: PLIN1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLIN1 (see all 4)
    OriGene shRNA RFP: PLIN1
    OriGene siRNA: PLIN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLIN1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PLIN1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLIN1 (see all 5)
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    Cell Line
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    Search LifeMap BioReagents cell lines for PLIN1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLIN1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008289lipid binding NAS9521880


    PLIN1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PLIN1:
     Increased G1 DNA content 

    Animal Models:
         Mouse knock-outs for PLIN1: Plin1tm1Asg Plin1tm2Lex Plin1tm1Cdl
         7 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Plin1):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  integument 
     liver/biliary system  muscle 

    PLIN1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PLIN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    2PKA activation in glucagon signalling
    		Development Beta-adrenergic receptors signaling via cAMP0.29
    		Development_Beta-adrenergic receptors signaling via cAMP0.29
    3Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    4Ca, cAMP and Lipid Signaling
    		Ca, cAMP and Lipid Signaling1.00
    5Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis
    		Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PLIN1
        Development Beta-adrenergic receptors signaling via cAMP


    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

    5/7        Reactome Pathways for PLIN1 (see all 7)
        Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis
    Developmental Biology
    Transcriptional Regulation of White Adipocyte Differentiation
    Lipid digestion, mobilization, and transport
    Metabolism


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


    PLIN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PLIN1

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

    5/48 Interacting proteins for PLIN1 (O602403 ENSP000003000554) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    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 (GO ID links to tree view):    About this table

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


    PLIN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PLIN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PLIN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--
    10/20 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about PLIN1 

    Transcripts
    for PLIN1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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 plasmid: PLIN1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLIN1 (see all 4)
    OriGene shRNA RFP: PLIN1
    OriGene siRNA: PLIN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLIN1
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): PLIN1 (NM_001145311)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLIN1
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    Additional cDNA sequence: 

    AB005293.1 AK310907.1 BC031084.1 

    3 DOTS entries:

    DT.212518  DT.99999860  DT.121039232 

    24/59 AceView cDNA sequences (see all 59):

    CD515709 CB266260 BQ003487 AI208525 AI187870 AI354709 AI183365 AI014646 
    BQ719620 BF059304 CA427153 CA427560 AI024802 CB962068 AA320510 CB266707 
    AA781073 NM_002666 AL119060 BQ722197 BC031084 CA405985 BI544272 BF197754 

    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

    Expression
    for PLIN1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PLIN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTTTTTTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PLIN1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeBody Subcutaneous White AdiposeSubcutaneous White AdipocytesAdipose
    AdiposeCranial Subcutaneous White AdiposeSubcutaneous White AdipocytesAdipose
    AdiposeFacial Subcutaneous White AdiposeSubcutaneous White AdipocytesAdipose
    AdiposeSubcutaneous White AdiposeSubcutaneous White AdipocytesAdipose
    AdiposeVisceral White AdiposeVisceral White AdipocytesAdipose
    AdiposeVascular AdiposeStromal Vascular Preadipocyte Progenitor CellsAdipose
    AdiposeBody Subcutaneous White AdiposeSubcutaneous White PreadipocytesAdipose
    AdiposeCranial Subcutaneous White AdiposeSubcutaneous White PreadipocytesAdipose
    AdiposeFacial Subcutaneous White AdiposeSubcutaneous White PreadipocytesAdipose
    AdiposeSubcutaneous White AdiposeSubcutaneous White PreadipocytesAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    HyStem+BMP4-induced 7SMOO32 cells (HyStem+BMP4 inductio...)Adipose
    HyStem+BMP4-induced E15 cells (HyStem+BMP4 inductio...)Adipose, Bone, Cartilage

    See PLIN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLIN1

    SOURCE GeneReport for Unigene cluster: Hs.103253

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

        SABiosciences Custom PCR Arrays for PLIN1
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    In Situ
    Assay Products:     
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    Orthologs
    for PLIN1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for PLIN1 gene from 2/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PLIN11 perilipin 1 58.24(n)
    44.01(a)    		   415487  NM_001127439.1  NP_001120911.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii plin11 perilipin 1 52.17(n)
    38.21(a)    		   100034463  XM_003200457.1  XP_003200505.1 


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

    Paralogs
    for PLIN1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    PLIN1 for paralogs           About GeneDecksing



    Genomic Variants
    for PLIN1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/382 NCBI SNPs in PLIN1 are shown (see all 382)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2008937021,2
    		C--66320604(+) AAAAGA/GAAAAA 2 -- ut310--------
    rs787578521,2
    		C,--66320794(+) CAGCTT/CGTGTA 2 -- ut312Minor allele frequency- C:0.07CSA WA 120
    rs754541081,2
    		C,--66320841(+) GTGCAT/CAGCCC 2 -- ut312Minor allele frequency- C:0.06CSA WA 120
    rs1144771251,2
    		C,F,--66321571(+) CTCTGA/GGAGTG 2 -- ut311Minor allele frequency- G:0.02WA 118
    rs1135902971,2
    		C,--66321663(+) CTGAGC/TTCCCC 2 -- ut312Minor allele frequency- T:0.17CSA WA 120
    rs81790731,2
    		C--66322105(-) GAGCCC/TGAGAG 4 P syn1 ese30--------
    rs285704331,2
    		C,--66322521(+) GATCCC/TTGGCA 2 -- int10--------
    rs767400211,2
    		F,--66322632(+) CCTGCT/CTTGGA 2 -- int11Minor allele frequency- C:0.02EA 120
    rs745453131,2
    		C,F,--66322673(+) CCCCTG/AGGTTT 2 -- int11Minor allele frequency- A:0.08WA 118
    rs800727791,2
    		F,--66323065(+) TCTACT/CTTATC 2 -- int11Minor allele frequency- C:0.07WA 118

    HapMap Linkage Disequilibrium report for PLIN1 (90207596 - 90222658 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PLIN1: --
    Human Gene Mutation Database (HGMD): PLIN1

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for PLIN1

    Disorders / Diseases
    for PLIN1 gene

    (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.)
    About This Section
    PLIN1 for disorders           About GeneDecksing

    OMIM gene information: 170290    OMIM disorders: --

    UniProtKB/Swiss-Prot: PLIN1_HUMAN, O60240
  • Defects in PLIN1 are the cause of familial partial lipodystrophy type 4 (FPLD4) [MIM:613877]. FPLD4 is a form
    • of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs,
    insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension

    20/31 diseases for PLIN1 (see all 31):    About MalaCards
    perianal hematoma    anterolateral myocardial infarction    urethral calculus    familial partial lipodystrophy
    type 2 diabetes mellitus    placental choriocarcinoma    metabolic syndrome x    polycystic ovary syndrome
    insulin resistance    myocardial infarction    anorexia nervosa    fatty liver disease
    urethritis    diabetes mellitus    morbid obesity    lipodystrophy
    cramps    liver disease    choriocarcinoma    nevus

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

    8 Novoseek 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

    Publications
    for PLIN1 gene

    (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

    PubMed articles for PLIN1 gene, integrated from 9 sources (see all 206):
    (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. (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. (2010)
    3. Perilipin deficiency and autosomal dominant partial l ipodystrophy. (PubMed id 21345103)1, 2 Gandotra S....Vigouroux C. (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. (2004)
    5. Perilipin expression in human adipose tissue is elevated with obesity. (PubMed id 15001633)1, 9 Kern P.A....Ranganathan G. (2004)
    6. Perilipin overexpression in mice protects against die t-induced obesity. (PubMed id 19797618)1, 9 Miyoshi H....Greenberg A.S. (2010)
    7. Perilipin is present in islets of Langerhans and prot ects against lipotoxicity when overexpressed in the beta-cell line INS-1. (PubMed id 19299455)1, 9 Borg J....Holm C. (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. (2003)
    9. Expression of perilipin and adipophilin in nonalcohol ic fatty liver disease; relevance to oxidative injury and hepatocyte ballooning . (PubMed id 20032580)1, 9 Fujii H....Ueda M. (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. (2008)

    External Searches for PLIN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing PLIN1 gene

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

    Other Databases showing PLIN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PLIN1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PLIN1 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt010.shtml

    Intellectual Property
    for PLIN1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PLIN1 gene:
    Search GeneIP for patents involving PLIN1

    GeneCards and IP:
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