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FLASH GENE
Symbol PLIN1 contributors: mct - updated : 06-06-2012
HGNC name perilipin
HGNC id 9076
Corresponding disease
FPLP familial partial lipodystrophy
Location 15q26      Physical location : 90.207.599 - 90.222.648
Synonym name lipid droplet-associated protein
Synonym symbol(s) PP17, PERI, PLIN
DNA
TYPE like-sequence
STRUCTURE 15.05 kb     9 Exon(s)
regulatory sequence Promoter
Binding site   HRE
text structure
  • prmototer is activated by an orphan nuclear receptor, estrogen receptor-related receptor (ERR)
  • the sequence named RE-3, TGAAGGTGA, located in the promoter region, is a major site conferring the action of this nuclear receptor
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2979 - 522 - 2008 18243128
    9 - 2908 - 522 - 2008 18243128
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas     Homo sapiens
    Nervousnerve   highly
     nervecranial nerve  highly
    Reproductivefemale systembreast   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Epithelialsecretoryglandular  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     adipocyte
    Endocrineislet cell (alpha,beta...) Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    five putative A-kinase sites
    HOMOLOGY
    interspecies homolog to rattus Plin
    intraspecies homolog to placenta protein 17
    Homologene
    FAMILY PAT family
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text
  • localized to the surface of triacylglycerol droplets within adipocytes, and steroidogenic cells
  • localized on lipid droplet surfaces in adipocytes and steroidogenic cells
  • basic FUNCTION
  • role in reining in basal hormone sensitive lipase activity and in adipocyte lipid metabolism
  • may be having a role in the etiology of obesity
  • playing a necessary role for hormone regulation of neutral lipid hydrolysis in adipocytes
  • playing a central role in both accumulation and mobilization of lipid in adipocytes
  • lipid droplet protein that regulate cellular neutral lipid stores
  • major droplet-associated protein that functions as a scaffold, both suppressing basal and facilitating cAMP-dependent protein kinase (PKA)-stimulated lipolysis
  • required for the translocation of hormone-sensitive lipase (LIPE) from the cytosol to lipid droplets upon stimulation
  • novel role for perilipin expression in adipose tissue metabolism and regulation of obesity and its metabolic complications
  • binds ABHD5 with high affinity and thereby suppresses the interaction of ABHD5 with PNPLA2
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • targets a novel pool of lipid droplets for lipolytic attack by hormone-sensitive lipase
  • target of PPARG, a key regulator of adipogenesis
  • physical interaction of LIPE with PLIN1 (can interact with an N-terminal region located between AAs 141 and 200 of PLIN1 as well as with a C-terminal region located between AAs 406 and 480)
  • ABHD5, a protein activator of PNPLA2, coordinates with PLIN1 in controlling basal and stimulated lipolysis
  • NR1H3 binds to the proximal regions of the PLIN1 and LIPE promoters
  • C-terminal 64 AAs of PLIN5 are critical for the differential binding of PNPLA2 to PLIN5 and PLIN1
  • PLIN1, another adipocyte-specific lipid droplet-associated protein, is an CIDEC activator (interacts with the CIDE-N domain of CIDEC and markedly increases CIDEC-mediated lipid exchange, lipid transfer and lipid droplet growth)
  • cell & other
    REGULATION
    Other regulated by a transcriptional network controlling energy metabolism
    ASSOCIATED DISORDERS
    corresponding disease(s) FPLP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    and induced in atheroma; overexpression and the coordinated modifications of expression of key regulatory factors for cholesterol metabolism could favor cholesterol accumulation
    tumoral     --over  
    in uterine cervix carcinoma
    constitutional     --over  
    appears to confer protection against the development of beta-cell dysfunction after prolonged exposure to palmitate by promoting lipid storage and limiting lipolysis
    Susceptibility
  • to elevated body mass index
  • to atheroma
  • to metabolic syndrome (MS)
  • Variant & Polymorphism SNP , other
  • variant PLIN4 11482G>A and PLIN1 6209T>C associated with a lower obesity risk
  • SNP PLIN4 11482GA associated with higher risk of MS at baseline
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Perilipin null mice exhibit diminished adipose tissue, elevated basal lipolysis, reduced catecholamine-stimulated lipolysis, and increased insulin resistance