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Recombinant Human 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 (ABHD5)

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  • 中文名称:
    Recombinant Human 1-acylglycerol-3-phosphate O-acyltransferase ABHD5(ABHD5)
  • 货号:
    CSB-EP819884HU
  • 规格:
    ¥1836
  • 图片:
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他:

产品详情

  • 纯度:
    Greater than 90% as determined by SDS-PAGE.
  • 基因名:
    ABHD5
  • Uniprot No.:
  • 别名:
    1-acylglycerol-3-phosphate O-acyltransferase ABHD5; ABHD5; ABHD5_HUMAN; Abhydrolase domain containing 5; Abhydrolase domain containing protein 5; Abhydrolase domain-containing protein 5; CDS; CGI 58; CGI58; CGI58 protein; IECN2; Lipid droplet-binding protein CGI-58; MGC8731; NCIE2
  • 种属:
    Homo sapiens (Human)
  • 蛋白长度:
    Full Length of Mature Protein
  • 来源:
    E.coli
  • 分子量:
    55.0kDa
  • 表达区域:
    2-349aa
  • 氨基酸序列
    AAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVLLHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGFLAAAYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMFEDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTIAILGAGHYVYADQPEEFNQKVKEICDTVD
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签:
    N-terminal 6xHis-SUMO-tagged
  • 产品提供形式:
    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.
  • 缓冲液:
    Tris-based buffer,50% glycerol
  • 储存条件:
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期:
    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.
  • 货期:
    3-7 business days
  • 注意事项:
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA:
    Please contact us to get it.

产品评价

靶点详情

  • 功能:
    Coenzyme A-dependent lysophosphatidic acid acyltransferase that catalyzes the transfert of an acyl group on a lysophosphatidic acid. Functions preferentially with 1-oleoyl-lysophosphatidic acid followed by 1-palmitoyl-lysophosphatidic acid, 1-stearoyl-lysophosphatidic acid and 1-arachidonoyl-lysophosphatidic acid as lipid acceptor. Functions preferentially with arachidonoyl-CoA followed by oleoyl-CoA as acyl group donors. Functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte differentiation. Regulates lipid droplet fusion.
  • 基因功能参考文献:
    1. our findings indicate that inhibition of both DGAT1 and ABHD5 using siRNA leads to reduction in prostate cancer cell growth. PMID: 28877685
    2. Prebinding CGI-58 with PI(3)P or PI(5)P did not alter its coactivation of ATGL in vitro. In summary, purified recombinant CGI-58 that is functional as an ATGL coactivator lacks LPAAT activity. PMID: 24879803
    3. It is clear that CGI-58 can regulate TAG hydrolysis by activating the major TAG hydrolase adipose triglyceride lipase (ATGL), yet CGI-58 can also regulate lipid metabolism via mechanisms that do not involve ATGL. PMID: 28827091
    4. ABHD5 possesses a PNPLA2-independent function in regulating autophagy and tumorigenesis. PMID: 27559856
    5. These results indicate that HCV taps into the lipid droplet triglyceride reservoir usurping ABHD5 lipase cofactor function PMID: 27124600
    6. Case Report: novel ABHD5 mutation, c.838C > T (p.Arg280*), in trans with p.Arg234* in a Chinese patient with very mild Dorfman-Chanarin syndrome. PMID: 26547112
    7. s show that rat ATGL, coactivated by rat CGI-58, efficiently hydrolyzes triglycerides and retinyl ester. PMID: 26330055
    8. novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma. PMID: 26353074
    9. simultaneous tryptophan alanine permutations in both arms abolish localization and activity of CGI-58 as opposed to tryptophan substitutions that occur in only one arm. PMID: 26350461
    10. this study presents clinical and molecular data of four affected relatives with Chanarin-Dorfman syndrome homozygous for a N209X mutation in ABHD5, and provides a short review by comparing patients with N209X homozygous mutations to patients with other ABHD5 mutations. PMID: 25682902
    11. 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
    12. -mediated phosphorylation of CGI-58 is required for dispersion of CGI-58 from perilipin 1A-coated lipid droplets PMID: 25421061
    13. Abhd5 expression falls substantially and correlates negatively with malignant features in human colorectal cancer. PMID: 25482557
    14. Findings indicate a molecular mechanisms by which lysophosphatidic acid acyltransferase CGI-58 regulates lipid homeostasis. PMID: 25315780
    15. A report of two Chanarin-Dorfman syndrome sisters with severe steatohepatitis and decompensated cirrhosis due to steatohepatitis in whom the clinical presentation developed due to a new mutation in ABHD5 gene. PMID: 22245374
    16. an important metabolic function of CGI-58 in skeletal muscle PMID: 22383684
    17. A novel nonsense mutation of ABHD5 is reported in a consanguineous Afgani family with 4 sibs with Dorfman Chanarin syndrome; the mutation leads to protein truncation by 14 AAs; findings include liver cirrhosis, corneal opacities,tessellated fundus PMID: 22373837
    18. the C terminus sequesters ABHD5 and thus inhibits basal ATGL activity PMID: 21757733
    19. First report of large genomic deletions in the ABHD5 gene in Chanarin-Dorfman syndrome patients from Mediterranean countries. PMID: 21122093
    20. analysis of novel mutations in the ABHD5 gene in Chanarin-Dorfman syndrome (CDS) patients PMID: 20307695
    21. CGI-58 not only facilitates triglyceride lipolysis, but also provides fatty acid for esterification of ceremide leading to acylceremides PMID: 20520629
    22. ABDH5 gene mutation is found in patients diagnosed with Chanarin Dorfman syndrome. PMID: 15967942
    23. CGI-58 interacts with adipose triglyceride lipase, stimulating its TG hydrolase activity up to 20-fold PMID: 16679289
    24. CGI-58 facilitates lipolysis in cooperation with perilipin and other factors, including lipases PMID: 17308334
    25. analysis of a novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome [case report] PMID: 17495960
    26. Deficient in lipid storage diseases. PMID: 17631826
    27. These data enriches the list of CGI-58 mutations associated with Chanarin-Dorfman syndrome and confirms the clinical and allelic heterogeneity of this disease, especially the inconsistent muscle involvement. PMID: 18339307
    28. CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid PMID: 18606822
    29. CGI-58 is expressed and packaged into lamellar granules (LG) during keratinization and likely plays crucial role(s) in keratinocyte differentiation and LG lipid metabolism, contributing to skin lipid barrier formation. PMID: 18832586
    30. Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. (Review) PMID: 19061969
    31. review summarizes recent findings with the goal of relating structural variants of ATGL and CGI-58 to functional consequences in lipid metabolism [review] PMID: 19401457
    32. mutational analysis in Chanarin-Dorfman syndrome PMID: 11590543

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  • 相关疾病:
    Chanarin-Dorfman syndrome (CDS)
  • 亚细胞定位:
    Cytoplasm. Lipid droplet. Cytoplasm, cytosol.
  • 蛋白家族:
    Peptidase S33 family, ABHD4/ABHD5 subfamily
  • 组织特异性:
    Widely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain. Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons (at protein level).
  • 数据库链接:

    HGNC: 21396

    OMIM: 275630

    KEGG: hsa:51099

    STRING: 9606.ENSP00000390849

    UniGene: Hs.19385