PLIN1 (perilipin 1)

2013-11-01  

Identity

HGNC
LOCATION
15q26.1
LOCUSID
ALIAS
FPLD4,PERI,PLIN
FUSION GENES

Other Information

Locus ID:

NCBI: 5346
MIM: 170290
HGNC: 9076
Ensembl: ENSG00000166819

Variants:

dbSNP: 5346
ClinVar: 5346
TCGA: ENSG00000166819
COSMIC: PLIN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166819ENST00000300055O60240
ENSG00000166819ENST00000430628O60240
ENSG00000166819ENST00000560330H0YM16

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
1000

Pathways

PathwaySourceExternal ID
PPAR signaling pathwayKEGGko03320
PPAR signaling pathwayKEGGhsa03320
Regulation of lipolysis in adipocytesKEGGhsa04923
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysisREACTOMER-HSA-163560
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of white adipocyte differentiationREACTOMER-HSA-381340
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406954Weight gainDiseaseClinicalAnnotationassociatedPD16732015
PA443890Diabetes Mellitus, Type 2DiseaseClinicalAnnotationassociatedPD16732015
PA451283rosiglitazoneChemicalClinicalAnnotationassociatedPD16732015

References

Pubmed IDYearTitleCitations
183933902008Differential pattern of lipid droplet-associated proteins and de novo perilipin expression in hepatocyte steatogenesis.78
213451032011Perilipin deficiency and autosomal dominant partial lipodystrophy.64
151114932004Adipose tissue expression of the lipid droplet-associating proteins S3-12 and perilipin is controlled by peroxisome proliferator-activated receptor-gamma.49
162438392005Perilipin targets a novel pool of lipid droplets for lipolytic attack by hormone-sensitive lipase.39
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
128024952003Evidence for an important role of perilipin in the regulation of human adipocyte lipolysis.31
159854822005Obese subjects carrying the 11482G>A polymorphism at the perilipin locus are resistant to weight loss after dietary energy restriction.30
159854822005Obese subjects carrying the 11482G>A polymorphism at the perilipin locus are resistant to weight loss after dietary energy restriction.30
204680642010Association study of 182 candidate genes in anorexia nervosa.30
200325802009Expression of perilipin and adipophilin in nonalcoholic fatty liver disease; relevance to oxidative injury and hepatocyte ballooning.29

Citation

Dessen P

PLIN1 (perilipin 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53570/plin1