Recombinant Human 1-Acylglycerol-3-Phosphate O-Acyltransferase Pnpla3 (PNPLA3) Protein (His&Myc)

Name: Recombinant Human 1-Acylglycerol-3-Phosphate O-Acyltransferase Pnpla3 (PNPLA3) Protein (His&Myc)
Brand: Beta LifeScience
SKU: BLC-06285P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human 1-Acylglycerol-3-Phosphate O-Acyltransferase Pnpla3 (PNPLA3) Protein (His&Myc) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Activity	Not tested.
Uniprotkb	Q9NST1
Target Symbol	PNPLA3
Synonyms	(Acylglycerol transacylase)(Adiponutrin)(ADPN)(Calcium-independent phospholipase A2-epsilon)(iPLA2-epsilon)(Lysophosphatidic acid acyltransferase)(Patatin-like phospholipase domain-containing protein 3)
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-10His&C-Myc
Target Protein Sequence	EQTLQVLSDLVRKARSRNIGIFHPSFNLSKFLRQGLCKCLPANVHQLISGKIGISLTRVSDGENVLVSDFRSKDEVVDALVCSCFIPFYSGLIPPSFRGVRYVDGGVSDNVPFIDAKTTITVSPFYGEYDICPKVKSTNFLHVDITKLSLRLCTGNLYLLSRAFVPPDLKVLGEICLRGYLDAFRFLEEKGICNRPQPGLKSSSEGMDPEVAMPSWANMSLDSSPESAALAVRLEGDELLDHLRLSILPWDESILDTLSPRLATALSEEMKDKGGYMSKICNLLPIRIMSYVMLPCTLPVESAIAIVQRLVTWLPDMPDDVLWLQWVTSQVFTRVLMCLLPASRSQMPVSSQQASPCTPEQDWPCWTPCSPKGCPAETKAEATPRSILRSSLNFFLGNKVPAGAEGLSTFPSFSLEKSL
Expression Range	63-481aa
Protein Length	Partial
Mol. Weight	53.7 kDa
Research Area	Cardiovascular
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	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.
Subcellular Location	Membrane; Single-pass type II membrane protein. Lipid droplet.
Database References	HGNC: 18590 OMIM: 609567 KEGG: hsa:80339 STRING: 9606.ENSP00000216180 UniGene: PMID: 30189691 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 PNPLA3 polymorphisms were associated with advanced liver fibrosis in patients with HCV mono-Infection and HCV/HIV Co-Infection. PMID: 30139224 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 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 case-control study confirmed that PNPLA3 rs738409 Single Nucleotide Polymorphism is associated with Alcoholic Liver Disease. PMID: 29474507 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 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 PNPLA3 determines the risk of NASH and significant fibrosis. PMID: 29193269 Our study suggested that PNPLA3 loci (rs2294918, rs2294919) were associated with HBV-related HCC in Han Chinese. PMID: 28617615 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 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 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 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 Its genotype showes an association with NAFLD, NASH, fibrosis, and cirrhosis. PMID: 28975533 Individuals misusing alcohol who carry a particular variant of the gene PNPLA3 are more at risk of developing severe alcoholic hepatitis. PMID: 28161471 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 The associations between PNPLA3 rs738409 GG genotype and steatosis was significant and was associated to advanced fibrosis. PMID: 29258449 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 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 PNPLA3 SNP I148M occurs with high frequency in Mexican population and favors development of NAFLD. PMID: 29055919 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 PNPLA3 GG genotype was elevated in aggressive disease phenotype of non-alcoholic fatty liver disease. PMID: 28626169 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 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 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 The PNPLA3 rs738409 GG genotype is positively associated with hepatic steatosis in Asian patients with chronic hepatitis C. PMID: 28797039 148M isoform accumulates on lipid drplets when expressed in the livers of mice PMID: 28520213 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 PNPLA3 association with adiposity and the risk of the nonalcoholic fatty liver disease PMID: 28436986 PNPLA3 gene variant is associated with the risk of developing liver fibrosis and cirrhosis in an Eastern European population. PMID: 28338112 PNPLA3 acts as a positive modulator of activated human hepatic stellate cells, affecting cytokines secretion. PMID: 28073161 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 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 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 The percentage of the PNPLA3 rs738409 GG genotype in NAFLD patients was also significantly higher than that in the controls. PMID: 27059980 the rs738409 polymorphism in PNPLA3 is associated with liver fibrosis progression in HIV/HCV-coinfected patients PMID: 27973562 Lean non-alcoholic fatty liver disease subjects had a higher rate of the mutant PNPLA3 CG/GG variant compared to lean controls. PMID: 27527746 The results that in Japanese patients with NAFLD PNPLA3 genotype had some affect on the histological features, including stage of fibrosis. PMID: 26610348 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 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 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 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 Regarding rs738409 polymorphism, GG genotype was positive correlated with the presence of non-alcoholic steatohepatitis. PMID: 27128907 SNPs rs2896019 and rs3810622 significantly associated with increased risk of nonalcoholic fatty liver disease in Han Chinese population PMID: 27537584 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 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 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 The PNPLA3 p.I148M variant is associated with non-alcoholic fatty liver disease. PMID: 26745555 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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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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