Entity Details

Primary name PLIN1
Entity type gene
Source Source Link

Details

PrimaryID5346
RefseqGeneNG_029172
SymbolPLIN1
Nameperilipin 1
Chromosome15
Location15q26.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-06-25
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPLIN1_HUMAN

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005811 lipid droplet
GO:0005829 cytosol
GO:0006629 lipid metabolic process
GO:0008289 lipid binding
GO:0016042 lipid catabolic process
GO:0030522 intracellular receptor signaling pathway

Diseases

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Disease IDSourceNameDescription
613877 OMIMLipodystrophy, familial partial, 4 (FPLD4)A form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension. The disease is caused by variants affecting the gene represented in this entry.