Aliases for PLIN1 Gene
External Ids for PLIN1 Gene
Previous HGNC Symbols for PLIN1 Gene
Previous GeneCards Identifiers 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 Lipodystrophy, Familial Partial, Type 4 and Perianal Hematoma. Among its related pathways are Lipoprotein metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is PLIN2.
UniProtKB/Swiss-Prot for PLIN1 Gene
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.