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Gene Review

PNPLA4  -  patatin-like phospholipase domain...

Homo sapiens

Synonyms: DXS1283E, GS2, Patatin-like phospholipase domain-containing protein 4, Protein GS2, iPLA2eta
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Disease relevance of PNPLA4


High impact information on PNPLA4

  • The kinetics of GS2 mRNA accumulation in response to white-light illumination of etiolated or dark-adapted green plants indicates that GS2 mRNA accumulates more rapidly in plants containing mature, photosynthetically competent chloroplasts [2].
  • Dinucleotide repeat polymorphism at the DXS1283E locus [3].
  • Here, we present the nucleotide sequence of the pea GS2 gene promoter [4].
  • A 323-bp GS2 promoter sequence is sufficient to confer light regulation to the GUS reporter gene in leaves of mature transgenic tobacco [4].
  • We have recently reported that GS2 lipase is expressed in keratinocytes and has the enzymatic properties of keratinocyte RE hydrolase [5].

Biological context of PNPLA4

  • DNA sequencing of a GS2 cDNA clone revealed an open reading frame for a basic protein of 253 amino acid residues [6].
  • Characterization of GS2 genomic clones revealed that the gene consists of 7 exons spanning over 26 kb, with a CpG island located in the first intron [6].
  • This is consistent with a function for Desnutrin/ATGL, GS2, and GS2-Like in lipolysis, but not for Adiponutrin [7].
  • Molecular screening for GS2 lipase regulators: inhibition of keratinocyte retinylester hydrolysis by TIP47 [5].
  • Furthermore, we document that plant extracts contain protease activity that cleaves the GS2 protein only when it is bound to 14-3-3 proteins following either phosphorylation or mimicking of phosphorylation by Ser97Asp [1].

Anatomical context of PNPLA4

  • We therefore produced and screened two keratinocyte cDNA expression libraries and identified a previously sequenced gene (GS2) as a keratinocyte retinyl ester (RE) hydrolase insensitive to BNPP [8].
  • The GS2 gene is expressed in all human tissues examined, including heart, brain, placenta, lung, liver, muscle, kidney, pancreas, and spleen [6].
  • Our data support distinct functions for Adiponutrin and Desnutrin/ATGL and raise the possibility that GS2 may contribute significantly to lipolysis in human adipose tissue [7].
  • Using an (His)6-tagged 14-3-3 protein column affinity purification method, we demonstrate that phosphorylated GS2 interacts with 14-3-3 proteins and that this interaction leads to selective proteolysis of the plastid located isoform, resulting in inactivation of the isoenzyme [1].
  • A quantitative fluorescent-polymerase chain reaction (QF-PCR) test system with different short tandem repeat (STR) markers of the X chromosome (SBMA, DXS8377 and DXS1283E) together with the amelogenin locus (AMXY) was developed for the rapid detection of sex chromosome aneuploidies on uncultured amniotic fluids [9].

Associations of PNPLA4 with chemical compounds

  • Overexpression of Desnutrin/ATGL, GS2, and GS2-Like, but not Adiponutrin, decreases intracellular triglyceride levels [7].
  • As GS2 lipase has a robust activity that can affect the intracellular retinol levels, we postulated that its activity must be regulated [5].

Other interactions of PNPLA4

  • The GS2 gene is transcribed toward Xpter, in the same direction as KAL1 but opposite to that of STS [6].
  • Here, we report on the expression, regulation, and activity of GS2 and GS2-Like compared with Adiponutrin and Desnutrin/ATGL [7].

Analytical, diagnostic and therapeutic context of PNPLA4

  • Gel-shift analysis detected DNA-protein complexes formed with potential transcription elements within this short, light-responsive GS2 promoter fragment [4].
  • By site directed mutagenesis we were able to identify a GS2 phosphorylation site (Ser97) crucial for the interaction with 14-3-3s [1].
  • The catalytic competence of gramicidin S synthetase 2 (GS2) was determined by following the kinetics of PP(i) generation using active site titration measurements with [gamma-(32)P]ATP [10].


  1. Phosphorylation and subsequent interaction with 14-3-3 proteins regulate plastid glutamine synthetase in Medicago truncatula. Lima, L., Seabra, A., Melo, P., Cullimore, J., Carvalho, H. Planta (2006) [Pubmed]
  2. Photorespiration and light act in concert to regulate the expression of the nuclear gene for chloroplast glutamine synthetase. Edwards, J.W., Coruzzi, G.M. Plant Cell (1989) [Pubmed]
  3. Dinucleotide repeat polymorphism at the DXS1283E locus. Yen, P., Lin, H. Hum. Mol. Genet. (1994) [Pubmed]
  4. Cis elements and trans-acting factors affecting regulation of a nonphotosynthetic light-regulated gene for chloroplast glutamine synthetase. Tjaden, G., Edwards, J.W., Coruzzi, G.M. Plant Physiol. (1995) [Pubmed]
  5. Molecular screening for GS2 lipase regulators: inhibition of keratinocyte retinylester hydrolysis by TIP47. Gao, J.G., Simon, M. J. Invest. Dermatol. (2006) [Pubmed]
  6. Isolation of a new gene GS2 (DXS1283E) from a CpG island between STS and KAL1 on Xp22.3. Lee, W.C., Salido, E., Yen, P.H. Genomics (1994) [Pubmed]
  7. Expression, regulation, and triglyceride hydrolase activity of Adiponutrin family members. Lake, A.C., Sun, Y., Li, J.L., Kim, J.E., Johnson, J.W., Li, D., Revett, T., Shih, H.H., Liu, W., Paulsen, J.E., Gimeno, R.E. J. Lipid Res. (2005) [Pubmed]
  8. Identification of a novel keratinocyte retinyl ester hydrolase as a transacylase and lipase. Gao, J., Simon, M. J. Invest. Dermatol. (2005) [Pubmed]
  9. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Schmidt, W., Jenderny, J., Hecher, K., Hackelöer, B.J., Kerber, S., Kochhan, L., Held, K.R. Mol. Hum. Reprod. (2000) [Pubmed]
  10. Active site titration of gramicidin S synthetase 2: evidence for misactivation and editing in non-ribosomal peptide biosynthesis. Kittelberger, R., Pavela-Vrancic, M., von Döhren, H. FEBS Lett. (1999) [Pubmed]
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