Recombinant Human Patatin-like phospholipase domain-containing protein 2 (PNPLA2)

中文名稱：

Recombinant Human Patatin-like phospholipase domain-containing protein 2 (PNPLA2)
品名簡稱：

Recombinant Human PNPLA2 protein
貨號：

CSB-EP836180HUc7
說明書：

MSDS Datasheet
規格：

￥1836
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 85% as determined by SDS-PAGE.
生物活性：

Not Test
基因名：

PNPLA2
Uniprot No.：

Q96AD5
別名：

Adipose triglyceride lipase;Calcium-independent phospholipase A2-zeta;Desnutrin;Pigment epithelium-derived factor receptor;TTS2.2;Transport-secretion protein 2
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length
來源：

E.coli
分子量：

62.2 kDa
表達區域：

1-504aa
氨基酸序列

MFPREKTWNISFAGCGFLGVYYVGVASCLREHAPFLVANATHIYGASAGALTATALVTGVCLGEAGAKFIEVSKEARKRFLGPLHPSFNLVKIIRSFLLKVLPADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQGVRYVDGGISDNLPLYELKNTITVSPFSGESDICPQDSSTNIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQGYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVESAQAEDYSQLPGEDHILEHLPARLNEALLEACVEPTDLLTTLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTGSICQYLVMRAKRKLGRHLPSRLPEQVELRRVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRMRAPADPAPAPADPASPQHQLAGPAPLLSTPAPEARPVIGALGL
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

C-terminal 6xHis-tagged
產品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Basically, we can dispatch the products out in 3-7 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.
Datasheet & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Exhibits a strong preference for the hydrolysis of long-chain fatty acid esters at the sn-2 position of the glycerol backbone. Also has acylglycerol transacylase activity. Acts coordinately with LIPE/HLS and DGAT2 within the lipolytic cascade. Transfers fatty acid from triglyceride to retinol, hydrolyzes retinylesters, and generates 1,3-diacylglycerol from triglycerides. 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.
基因功能參考文獻：
1. No difference in the genotype frequency of rs7925131 or rs7942159 in PNPLA2 between the normal free fatty acids (FFA) group and the high FFA group in a Chinese Han population. PMID: 29072982
2. Non-cardiac ATGL-mediated modulation of the cardiac lipidome may play an important role in the pathogenesis of chronic heart failure. PMID: 29320510
3. Although we found evidence for moderate association between PNPLA2 tagSNPs and anthropometric and metabolic parameters in our cohort, no evidence for association between polymorphisms in the PNPLA2 gene and the presence and severity of non-alcoholic fatty liver disease was identified. PMID: 26500201
4. Study reports the derivation of iPSCs from fibroblasts of two Neutral Lipid Storage Disease with Myopathy (NLSDM)patients carrying different ATGL mutations. These iPSCs exhibited defects in neutral lipid metabolism similar to those of NLSDM fibroblasts. NLSDM-iPSCs were able to undergo directed differentiation into cardiomyocytes. PMID: 28391974
5. Thus, ATGL in leucocytes may be an important biomarker for the diagnosis of TGCV and our assay may provide insights into pathophysiology and elucidate the underlying mechanism of TGCV and related disorders. PMID: 29146190
6. The ATGL gene was frequently deleted in various forms of human cancers and was associated with poor prognosis. PMID: 27213586
7. a Snail1-ATGL axis that regulates adipose lipolysis and fatty acid release, is reported. PMID: 27851965
8. ABHD5 possesses a PNPLA2-independent function in regulating autophagy and tumorigenesis. PMID: 27559856
9. Oxidative stress decreased the levels of PNPLA2 transcripts with no effect on ALOX5 expression. Exogenous additions of P1 peptide or overexpression of the PNPLA2 gene decreased both LTB4 levels and death of RPE cells undergoing oxidative stress. PMID: 27635633
10. Results suggest that increased adipose triglyceride lipase (ATGL) expression is associated with increased adiposity and stromal proliferation in patients with pancreatic ductal adenocarcinoma (PDAC). PMID: 28179319
11. A missense mutation in PNPLA2 is the rare cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease. PMID: 26922712
12. A novel deletion was identified in PNPLA2 protein from a patient with complete deficiency of adipose triglyceride lipase. PMID: 26803235
13. Rab32 controls intracellular lipid accumulation through inducing lipolysis via enhancing ATGL expression indirectly. PMID: 26882978
14. Data indicate that a tumor suppressor mechanism by which G0/G1 switch gene 2 product (G0S2) directly inhibits activity of a key intracellular adipose triglyceride lipase (ATGL). PMID: 26318046
15. Authors show that rat ATGL, coactivated by rat CGI-58, efficiently hydrolyzes triglycerides and retinyl ester. PMID: 26330055
16. PNPLA2 mutations were associated with an extended phenotype, including brain involvement in cases of neutral lipid-storage disease with myopathy. PMID: 26600210
17. Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase. PMID: 25985012
18. Study reports the clinical and genetic findings of a neutral lipid storage disease with myopathy family of Italian origin with 3 affected siblings. to highlight the effect that different gene mutations may have on ATGL lipase activity, authors performed a functional characterization of the novel PNPLA2 missense mutations identified in their patients PMID: 25956450
19. PLIN5 was significantly colocated with ATGL, mitochondria and CGI-58, indicating a close association between the key lipolytic effectors in resting skeletal muscle. PMID: 25054327
20. PEDF receptor is a transmembrane phospholipase that is required for the survival and antiapoptotic effects of PEDF on retina cells. It has determinants for PEDF binding within its L4 ectodomain that are critical for enzymatic stimulation. PMID: 23818523
21. Data suggest that PNPLA2 hydrolyzes arachidonic acid from triglycerides in mast cell (MC) lipid droplets; PNPLA2 appears to regulate substrate availability of AA for eicosanoid (PGD2/LTC4) generation/secretion upon MC activation with IgE. PMID: 25114172
22. Data suggest that pigment epithelium-derived factor (PEDF) and adipose triglyceride lipase (ATGL) may serve as therapeutic targets for managing vascular hyperpermeability in sepsis. PMID: 25700221
23. Results indicate that the serum adipose triglyceride lipase (ATGL) level may be closely related to obesity. PMID: 25177954
24. Data indicate that the peptide corresponding to residues Lys-20 to Ala-52 from G0S2 Inhibits ATGL in the nanomolar range. PMID: 25258314
25. Data indicate that fat-specific protein 27 (FSP27) increases the inhibitory effect of transcription factor Egr1 on the adipose triglyceride lipase (ATGL) promoter. PMID: 24742676
26. The pathophysiological impact due to defective lipolysis by ATGL deficiency on mitochondrial dysfunction. [Review] PMID: 23827855
27. our results suggest that inhibition of the major lipolytic enzymes ATGL and HSL by long-chain acyl-CoAs could represent an effective feedback mechanism controlling lipolysis PMID: 24440819
28. In patients with TGCV, even when hydrolysis of intracellular TG is defective, the marked up-regulation of PPARgamma and related genes may lead to increased uptake of LCFAs, the substrates for TG synthesis. PMID: 24332944
29. In humans, ATGL has a remarkable effect on cellular lipid droplet handling, and its lack causes both perivisceral, skeletal muscle, and pancreas fat accumulation; in contrast, the impact on whole-body insulin sensitivity and fatty acid metabolism is minor PMID: 23824421
30. Data indicate that PNPLA2 mutations in neutral lipid storage sisease with myopathy (NLSD with myopathy). PMID: 23232698
31. Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function. PMID: 22990388
32. PNPLA2 gene mutations are responsible for neutral lipid storage disease with myopathy in Chinese Han patients. PMID: 22832386
33. UBXD8-mediated recruitment of p97/VCP to LDs increases lipid droplet (LD) size by inhibiting the activity of adipose triglyceride lipase (ATGL), the rate-limiting enzyme in triacylglycerol hydrolysis. PMID: 23297223
34. These data suggest that elevated levels of ATGL are involved in the exercise-induced enhancement of lipolysis in primary adipocytes. PMID: 22815850
35. The results demonstrated that adipose triglyceride lipase Ser(404) phosphorylation is not increased in mixed skeletal muscle during moderate-intensity exercise and that AMPK does not appear to be an activating kinase for ATGL Ser(404) in skeletal muscle. PMID: 22713505
36. Reduced mRNA and protein content of Plin and G0S2 and borderline increased ATGL protein in sc adipose tissue from poorly controlled type 2 diabetic subjects. PMID: 22535977
37. Resveratrol increased adipose triglyceride lipase gene and protein expressions, an effect that was not observed for hormone-sensitive lipase in human SGBS adipocytes. PMID: 21543206
38. We have mapped the epitope of the antibody that detects PEDF-R to the coding region of exon 4. PMID: 22183409
39. Four novel and two previously reported mutations were detected, affecting different parts of the PNPLA2 gene in 6 patients with neutral lipid storage disease PMID: 21544567
40. the C terminus sequesters ABHD5 and thus inhibits basal ATGL activity PMID: 21757733
41. GBF1 and ATGL interact directly and in cells, through multiple contact sites on each protein. PMID: 21789191
42. ATGL knockdown increased monocyte adhesion to the endothelium through enhanced TNFalpha-induced ICAM-1 expression via activation of NFkappaB and PKC. PMID: 21828047
43. findings are compatible with the notion that the ATGL-G0S2 complex is an important long-term regulator of lipolysis under physiological conditions such as fasting in humans PMID: 21613358
44. The results suggest a molecular pathway by which PEDF ligand/receptor interactions on the cell surface could generate a cellular signal. PMID: 20237999
45. Adipose triglyceride lipase (ATGL) levels were inversely correlated with body mass index and positively correlated with insulin sensitivity index. In muscle, ATGL mRNA had a strong positive relationship with carnitine palmitoyltransferase I mRNA. PMID: 21129760
46. total lipase, ATGL and HSL activities were higher in visceral white adipose tissue of cancer patients compared with individuals without cancer and higher in cancer patients with cachexia compared with cancer patients without cachexia PMID: 21680814
47. Data indicate that altered ATGL and HSL expression in skeletal muscle could promote DAG accumulation and disrupt insulin signaling and action. PMID: 21498783
48. interaction of ATGL with CGI-58 increased lipolysis, whereas interaction of ATGL with perilipin 5 decreased lipolysis. PMID: 21393244
49. 1 out of 13 healthy individuals carried at least one rare mutation of PNPLA2. PMID: 21170305
50. variants within PNPLA2 may modulate the TG component of the familial combined hyperlipidemia trait, thus implicating PNPLA2 as modifier gene in this lipid disorder PMID: 20832801
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相關疾病：

Neutral lipid storage disease with myopathy (NLSDM)
亞細胞定位：

Lipid droplet. Cell membrane; Single-pass type II membrane protein.
組織特異性：

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 seg
數據庫鏈接：

HGNC: 30802

OMIM: 609059

KEGG: hsa:57104

STRING: 9606.ENSP00000337701

UniGene: Hs.654697