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

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中文名稱：

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

CSB-EP819884HU
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 90% as determined by SDS-PAGE.
基因名：

ABHD5
Uniprot No.：

Q8WTS1
別名：

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
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
來源：

E.coli
分子量：

55.0kDa
表達區域：

2-349aa
氨基酸序列

AAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVLLHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGFLAAAYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMFEDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTIAILGAGHYVYADQPEEFNQKVKEICDTVD
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：

N-terminal 6xHis-SUMO-tagged
產品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
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：

3-7 business days
注意事項：

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.

產品評價

靶點詳情

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.
基因功能參考文獻：
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. Authors 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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相關疾病：

Chanarin-Dorfman syndrome (CDS)
亞細胞定位：

Cytoplasm. Lipid droplet. Cytoplasm, cytosol.
蛋白家族：

Peptidase S33 family, ABHD4/ABHD5 subfamily
組織特異性：

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).
數據庫鏈接：

HGNC: 21396

OMIM: 275630

KEGG: hsa:51099

STRING: 9606.ENSP00000390849

UniGene: Hs.19385