PLIN1 gene

perilipin 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Familial partial lipodystrophy 4

From UniProt:

Lipodystrophy, 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. [MIM:613877]

Cytogenetic Location: 15q26.1, which is the long (q) arm of chromosome 15 at position 26.1

Molecular Location: base pairs 89,664,365 to 89,679,417 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q26.1, which is the long (q) arm of chromosome 15 at position 26.1
  • FPLD4
  • PERI
  • PLIN