Patatin-like phospholipase domain-containing protein 3 (PNPLA3), also known as adiponutrin (ADPN), acylglycerol O-acyltransferase or calcium-independent phospholipase A2-epsilon (iPLA2-epsilon) is an enzyme that in humans is encoded by the PNPLA3 gene. [5] [6] [7]
Adiponutrin is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [7]
The gene is located on the long arm of chromosome 22 at band 13.31 (22q13.31). It lies on the Watson (plus) strand and is 40,750 bases in length.
Upstream of the gene, putative binding sites for several transcription factors have been identified. These include PPAR-gamma, POU2F1, and POU2F2. It is not known at present whether any of these transcriptions factors are actually involved in the regulation of this gene.
The recommended name for the gene product is patatin-like phospholipase domain-containing protein 3. It is a single-pass type II membrane protein and is a multifunctional enzyme with both triacylglycerol lipase and acylglycerol O-acyltransferase activities. It is involved in the triacylglycerol hydrolysis in adipocytes and may play a role in energy metabolism.
The mature protein is 481 amino acids in length and the predicted molecular weight is 52.865 kilodaltons (kDa). Two of the isoforms have been described, but the functional significance (if any) of these forms is not known.
An association between alcoholic liver disease in caucasians and variations in this gene has been confirmed. [8] A mutation of isoleucine to methionine (I[ATC]>M[ATG]) SNP rs738409 has been confirmed to increase susceptibility to non-alcoholic liver disease and also to have effects in diabetes. [9]
Perilipin, also known as lipid droplet-associated protein, perilipin 1, or PLIN, is a protein that, in humans, is encoded by the PLIN gene. The perilipins are a family of proteins that associate with the surface of lipid droplets. Phosphorylation of perilipin is essential for the mobilization of fats in adipose tissue.
Hormone-sensitive lipase (EC 3.1.1.79, HSL), also previously known as cholesteryl ester hydrolase (CEH), sometimes referred to as triacylglycerol lipase, is an enzyme that, in humans, is encoded by the LIPE gene, and catalyzes the following reaction:
85 kDa calcium-independent phospholipase A2, also known as 85/88 kDa calcium-independent phospholipase A2, Group VI phospholipase A2, Intracellular membrane-associated calcium-independent phospholipase A2 beta, or Patatin-like phospholipase domain-containing protein 9 is an enzyme that in humans is encoded by the PLA2G6 gene.
SEC14L2 is a gene that, in humans, encodes the protein SEC14-like protein 2.
Adipose triglyceride lipase, also known as patatin-like phospholipase domain-containing protein 2 and ATGL, is an enzyme that in humans is encoded by the PNPLA2 gene. ATGL catalyses the first reaction of lipolysis, where triacylglycerols are hydrolysed to diacylglycerols.
Peroxisomal membrane protein PMP34 is a protein that in humans is encoded by the SLC25A17 gene.
Protein chibby homolog 1 is a protein that in humans is encoded by the CBY1 gene.
Calcium-independent phospholipase A2-gamma is an enzyme that in humans is encoded by the PNPLA8 gene.
Zinc finger protein 74 is a protein that in humans is encoded by the ZNF74 gene. Schizophrenia susceptibility has been associated with a mutation in this protein.
Lethal(3)malignant brain tumor-like 2 protein is a protein that in humans is encoded by the L3MBTL2 gene.
POZ-, AT hook-, and zinc finger-containing protein 1 is a protein that in humans is encoded by the PATZ1 gene.
Peroxisome assembly protein 26 is a protein that in humans is encoded by the PEX26 gene.
Probable tubulin polyglutamylase TTLL1 is an enzyme that in humans is encoded by the TTLL1 gene.
1-acylglycerol-3-phosphate O-acyltransferase ABHD5, also known as comparative gene identification-58 (CGI-58), is an enzyme that in humans is encoded by the ABHD5 gene.
Dynein light chain 4, axonemal is a protein that in humans is encoded by the DNAL4 gene.
Testis-specific serine/threonine-protein kinase 2 is an enzyme that in humans is encoded by the TSSK2 gene.
Malonyl CoA-acyl carrier protein transacylase, mitochondrial is an enzyme that in humans is encoded by the MCAT gene.
Ras-related protein Rab-36 is a protein that in humans is encoded by the RAB36 gene.
Perilipin 4, also known as S3-12, is a protein that in humans is encoded by the PLIN4 gene on chromosome 19. It is highly expressed in white adipose tissue, with lower expression in heart, skeletal muscle, and brown adipose tissue. PLIN4 coats lipid droplets in adipocytes to protect them from lipases. The PLIN4 gene may be associated with insulin resistance and obesity risk.
Diacylglycerol O-acyltransferase 2 (DGAT2) is a protein that in humans is encoded by the DGAT2 gene.
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