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MGP002325

UniProt Annotations

Entry Information
Gene Nameperilipin 1
Protein EntryPLIN1_HUMAN
UniProt IDO60240
SpeciesHuman
Comments
Comment typeDescription
DiseaseLipodystrophy, familial partial, 4 (FPLD4) [MIM:613877]: A form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin- resistant diabetes mellitus, hypertriglyceridemia, and hypertension. {ECO:0000269|PubMed:21345103}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionModulator 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. {ECO:0000269|PubMed:23399566}.
PtmMajor 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). {ECO:0000250}.
SimilarityBelongs to the perilipin family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum {ECO:0000269|PubMed:23399566}. Lipid droplet {ECO:0000269|PubMed:23399566}. Note=Lipid droplet surface- associated.
SubunitInteracts with ABHD5 (By similarity). Interacts with CIDEC. {ECO:0000250, ECO:0000269|PubMed:23399566}.
Tissue SpecificityAdipocytes. {ECO:0000269|PubMed:9521880}.
Web ResourceName=Protein Spotlight; Note=Fat, wonderful fat - Issue 10 of May 2001; URL="http://web.expasy.org/spotlight/back_issues/010";
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