InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PNPLA2

Summary

InnateDB Protein

IDBP-18290.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PNPLA2

Protein Name

patatin-like phospholipase domain containing 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000337701

InnateDB Gene

IDBG-18288 (PNPLA2)

Protein Structure

UniProt Annotation

Function

Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion. {ECO:0000269PubMed:15364929, ECO:0000269PubMed:15550674, ECO:0000269PubMed:16239926}.

Subcellular Localization

Lipid droplet. Cell membrane; Single-pass type II membrane protein.

Disease Associations

Note=Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2.Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]: Neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells. {ECO:0000269PubMed:17187067}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). {ECO:0000269PubMed:15550674, ECO:0000269PubMed:16150821, ECO:0000269PubMed:16249444, ECO:0000269PubMed:17032652}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.

Experimentally validated
Total	21 [view]
Protein-Protein	21 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004806	triglyceride lipase activity
GO:0005515	protein binding

Biological Process

GO:0006629	lipid metabolic process
GO:0006644	phospholipid metabolic process
GO:0008152	metabolic process
GO:0010891	negative regulation of sequestering of triglyceride
GO:0010898	positive regulation of triglyceride catabolic process
GO:0019433	triglyceride catabolic process
GO:0019915	lipid storage
GO:0034389	lipid particle organization
GO:0036155	acylglycerol acyl-chain remodeling
GO:0044281	small molecule metabolic process
GO:0046474	glycerophospholipid biosynthetic process

Cellular Component

GO:0005789	endoplasmic reticulum membrane
GO:0005811	lipid particle
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle