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  4. Recombinant Human 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 (PNPLA3) (I148M)

Recombinant Human 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 (PNPLA3) (I148M)

  • 中文名稱：
    Recombinant Human 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 (PNPLA3) (I148M)
  • 貨號：
    CSB-BP889106HU(A4)(M)d7
  • 規(guī)格：
    ￥2832
  • 圖片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

產(chǎn)品詳情

  • 純度：
    Greater than 85% as determined by SDS-PAGE.
  • 生物活性：
    Not Test
  • 基因名：
    PNPLA3
  • Uniprot No.：
  • 別名：
    Acylglycerol transacylase;Adiponutrin)(ADPN;Calcium-independent phospholipase A2-epsilon;iPLA2-epsilon;Lysophosphatidic acid acyltransferase;Patatin-like phospholipase domain-containing protein 3
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length
  • 來源：
    Baculovirus
  • 分子量：
    56.6 kDa
  • 表達區(qū)域：
    1-481aa(I148M)
  • 氨基酸序列
    MYDAERGWSLSFAGCGFLGFYHVGATRCLSEHAPHLLRDARMLFGASAGALHCVGVLSGIPLEQTLQVLSDLVRKARSRNIGIFHPSFNLSKFLRQGLCKCLPANVHQLISGKIGISLTRVSDGENVLVSDFRSKDEVVDALVCSCFMPFYSGLIPPSFRGVRYVDGGVSDNVPFIDAKTTITVSPFYGEYDICPKVKSTNFLHVDITKLSLRLCTGNLYLLSRAFVPPDLKVLGEICLRGYLDAFRFLEEKGICNRPQPGLKSSSEGMDPEVAMPSWANMSLDSSPESAALAVRLEGDELLDHLRLSILPWDESILDTLSPRLATALSEEMKDKGGYMSKICNLLPIRIMSYVMLPCTLPVESAIAIVQRLVTWLPDMPDDVLWLQWVTSQVFTRVLMCLLPASRSQMPVSSQQASPCTPEQDWPCWTPCSPKGCPAETKAEATPRSILRSSLNFFLGNKVPAGAEGLSTFPSFSLEKSL
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白標簽：
    C-terminal 10xHis-tagged
  • 產(chǎn)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(zhì)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：
    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(chǎn)品評價

靶點詳情

  • 功能：
    Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA. Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase activities and thus may play a role in acyl-chain remodeling of triglycerides. Has hydrolytic activity against glycerolipids triacylglycerol, diacylglycerol and monoacylglycerol, with a strong preference for oleic acid as the acyl moiety.
  • 基因功能參考文獻：
    1. Intergroup comparisons showed that the severe grade of hepatic steatosis was more frequently observed in GG than in CC carriers (74% vs. 11.3%, p < 0.001, OR 21.8). PNPLA3 CG and GG carriers with CD have a higher susceptibility to hepatic steatosis, but not to metabolic syndrome. Moreover, patients with GG alleles display more severe forms of HS based on ultrasound. PMID: 30189691
    2. The unaltered proportion of DAG (FA18:1) in I148M PNPLA3 carriers with fatty liver may explain the normal insulin sensitivity in these subjects. PMID: 30227635
    3. PNPLA3 polymorphisms were associated with advanced liver fibrosis in patients with HCV mono-Infection and HCV/HIV Co-Infection. PMID: 30139224
    4. In this longitudinal study with liver biopsy to stage liver fibrosis, we affirm there is no influence of the PNPLA3 rs738409 (GG) genotype on the occurrence of hepatocellular carcinoma in Asian chronic hepatitis C patients, including cirrhotic patients. PMID: 29089161
    5. The authors results demonstrate that SNP in the PNPLA3 gene is significantly associated with the presence and severity of NAFLD in a Korean populations. PMID: 29271184
    6. case-control study confirmed that PNPLA3 rs738409 Single Nucleotide Polymorphism is associated with Alcoholic Liver Disease. PMID: 29474507
    7. These data indicate that the liver expression of the PNPLA3 p.148M variant confers a genetic predisposition to liver graft steatosis along with nutritional status and diabetes. PMID: 29396131
    8. Findings suggest a significant association between variants in COL13A1, ADIPOQ, SAMM50, and PNPLA3, and risk of NAFLD/elevated transaminase levels in Mexican adults with an admixed ancestry. PMID: 29307798
    9. PNPLA3 determines the risk of NASH and significant fibrosis. PMID: 29193269
    10. Our study suggested that PNPLA3 loci (rs2294918, rs2294919) were associated with HBV-related HCC in Han Chinese. PMID: 28617615
    11. In this Sri Lankan community cohort study, the annual incidence of non-alcoholic fatty liver disease (NAFLD) was 6.2%. Incident NAFLD was associated with general and central obesity, raised triglycerides and diabetes, and showed a tendency of association with PNPLA3 gene polymorphisms. PMID: 28544258
    12. Although no single variant reached genome-wide significance, an association signal was observed for PNPLA3 rs738409, a common single nucleotide polymorphism that has been associated with a variety of liver-related pathologies including alcoholic cirrhosis. This preliminary analysis suggests a role for PNPLA3 variation and several gene sets/pathways that may influence risk for alcoholic hepatitis among heavy drinkers. PMID: 28776448
    13. rs738409 polymorphism was not associated with premature coronary artery disease in the whole group of participants, however, when patients and controls were divided into those with and without type 2 diabetes mellitus patients, under additive model, the polymorphism was associated with the presence of coronary artery disease only in patients with type 2 diabetes mellitus patients PMID: 27615511
    14. These findings suggest that PNPLA3 rs1010023 may predispose chronic hepatitis B patients to hepatic steatosis but protects them from glucose dysregulation by attenuating insulin resistance. PMID: 28695131
    15. Its genotype showes an association with NAFLD, NASH, fibrosis, and cirrhosis. PMID: 28975533
    16. Individuals misusing alcohol who carry a particular variant of the gene PNPLA3 are more at risk of developing severe alcoholic hepatitis. PMID: 28161471
    17. PNPLA3 is the first locus to be reproducibly and strongly associated with steatosis, fibrosis/cirrhosis in various liver diseases with different etiologies and even HCC in fatty liver diseases. PMID: 29364097
    18. The associations between PNPLA3 rs738409 GG genotype and steatosis was significant and was associated to advanced fibrosis. PMID: 29258449
    19. Two single nucleotide polymorphisms (SNPs), rs430397 in glucose regulated protein 78 kDa (GRP78) and rs738409 in patatin-like phospholipase domain-containing 3 protein (PNPLA3), were shown to be significantly associated with the risk of developing hepatocellular carcinoma (HCC) in a Sicilian population. PMID: 27888630
    20. Meta-analysis provided strong and unequivocal evidence for a significant role for rs738409 in PNPLA3 in the progression of Alcohol-related Cirrhosis with effect sizes in the range expected for a relatively frequent single nuclear polymorphism in a complex disease. PMID: 27575312
    21. PNPLA3 SNP I148M occurs with high frequency in Mexican population and favors development of NAFLD. PMID: 29055919
    22. Overall, we showed that novel variants in PNPLA3 are very rare in our liver biopsy cohort, thereby indicating that their impact on the etiology of nonalcoholic fatty liver disease is probably limited. Nevertheless, for the three rare coding variants that were identified in patients with advanced liver disease, further functional characterization will be essential to verify their potential disease causality. PMID: 27288299
    23. PNPLA3 GG genotype was elevated in aggressive disease phenotype of non-alcoholic fatty liver disease. PMID: 28626169
    24. PNPLA3 was strongly expressed in the liver and clearly detectable in subcutaneous adipose tissue of obese patients. Weight loss induced by Laparoscopic gastric banding (LAGB) of severely obese patients led to significantly increased adipose, but not hepatic, tissue expression of PNPLA3. Weight loss induced by LAGB restored adipose tissue PNPLA3 expression which is suppressed by tumour necrosis factor alpha. PMID: 27514759
    25. Our study suggests that the pathogenic role of PNPLA3(148M) in nonalcoholic fatty liver disease is independent of the gene transcription in humans, which may be attributed to the high endogenous transcription level of PNPLA3 gene in human livers. PMID: 27744419
    26. The association between the PNPLA3 variant and bipolar disorder may help guide further work on medication effectiveness, treatment options, prevention approaches, and understanding potential medication side effects among specific subgroups of individuals with the MM genotype. PMID: 27889599
    27. The PNPLA3 rs738409 GG genotype is positively associated with hepatic steatosis in Asian patients with chronic hepatitis C. PMID: 28797039
    28. 148M isoform accumulates on lipid drplets when expressed in the livers of mice PMID: 28520213
    29. The study proposes that polymorphisms in the PNPLA3 gene have highly predictive value in the development of nonalcoholic fatty liver disease and are independently associated with the severity of liver histology in patients with NAFLD. PMID: 28253210
    30. PNPLA3 association with adiposity and the risk of the nonalcoholic fatty liver disease PMID: 28436986
    31. PNPLA3 gene variant is associated with the risk of developing liver fibrosis and cirrhosis in an Eastern European population. PMID: 28338112
    32. PNPLA3 acts as a positive modulator of activated human hepatic stellate cells, affecting cytokines secretion. PMID: 28073161
    33. The results show that in obese patients, the presence of the PNPLA3 p.I148M allele might be associated with greater improvement of hepatic steatosis after bariatric surgery in comparison to carriers of PNPLA3 wild-type alleles. The also lost more weight and had reduced liver fat content. PMID: 27576208
    34. PNPLA3 rs738409 (C>G) was associated with the risk of both advanced liver fibrosis and steatosis in patients with chronic hepatitis C, especially among Caucasian populations PMID: 26419236
    35. we provide evidence to indicate that PNPLA3-mediated retinol release may protect against liver fibrosis by inducing a specific signature of proteins involved in extracellular matrix remodelling PMID: 27742777
    36. The percentage of the PNPLA3 rs738409 GG genotype in NAFLD patients was also significantly higher than that in the controls. PMID: 27059980
    37. the rs738409 polymorphism in PNPLA3 is associated with liver fibrosis progression in HIV/HCV-coinfected patients PMID: 27973562
    38. Lean non-alcoholic fatty liver disease subjects had a higher rate of the mutant PNPLA3 CG/GG variant compared to lean controls. PMID: 27527746
    39. The results that in Japanese patients with NAFLD PNPLA3 genotype had some affect on the histological features, including stage of fibrosis. PMID: 26610348
    40. This is the first study to report the interaction between the PNPLA3 rs738409 polymorphism and physical activity or sedentary behavior on Non-Alcoholic Fatty Liver Disease, providing new clues on the function of the PNPLA3 gene PMID: 27905898
    41. Data show that the alleles of PNPLA3 locus with differential distribution in cohorts with non-alcoholic fatty liver disease, non-alcoholic steatohepatitis (NASH) and pericellular fibrosis. Heterozygosity at this locus is independently associated with higher risk of having NASH and pericellular fibrosis. PMID: 27596100
    42. In NAFLD patients, carriage of the PNPLA3G allele, and particularly of the GG genotype, is significantly associated with the risk of cirrhotic evolution PMID: 27150500
    43. The hepatic copper content and PNPLA3 mutations are associated with disease activity in NAFLD patients without MetS. Presence of MetS appears to mask the effects of hepatic copper and PNPLA3. PMID: 27908400
    44. Regarding rs738409 polymorphism, GG genotype was positive correlated with the presence of non-alcoholic steatohepatitis. PMID: 27128907
    45. SNPs rs2896019 and rs3810622 significantly associated with increased risk of nonalcoholic fatty liver disease in Han Chinese population PMID: 27537584
    46. The PNPLA3 148 I/M or M/M variants and CD4(+) cell count were the only independent predictors of severe steatosis in patients with hepatitis C virus non-3 genotypes. PMID: 26806136
    47. the PNPLA3 rs738409 was determined to be associated with hepatocellular carcinoma development in a cohort of Japanese patients with type 2 diabetes mellitus PMID: 26337813
    48. PNPLA3 p.I148M variant represents the most important prosteatotic genetic risk factor. NAFLD carriers of this variant should be followed up carefully, with elastography being ideally suited for this purpose. PMID: 26264356
    49. The PNPLA3 p.I148M variant is associated with non-alcoholic fatty liver disease. PMID: 26745555
    50. based on data from the HALT-C trial, the PNPLA3 CG/GG SNP at rs738409 is associated with fibrosis progression but not development of Hepatocellular Carcinoma in patients with Hepatitis C Virus Infection PMID: 26305067

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  • 相關疾?。?/div>
    Non-alcoholic fatty liver disease 1 (NAFLD1)
  • 亞細胞定位：
    Membrane; Single-pass type II membrane protein. Lipid droplet.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 18590

    OMIM: 609567

    KEGG: hsa:80339

    STRING: 9606.ENSP00000216180

    UniGene: Hs.654800