Recombinant Human Enoyl-CoA hydratase, mitochondrial (ECHS1)

中文名稱：

人ECHS1重組蛋白
品名簡稱：

Recombinant Human ECHS1 protein
貨號：

CSB-EP007382HU
說明書：

MSDS Datasheet
規格：

￥1536
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.
生物活性：

Not Test
基因名：

ECHS1
Uniprot No.：

P30084
別名：

(mECH)(mECH1)(Enoyl-CoA hydratase 1)(ECHS1)(Short-chain enoyl-CoA hydratase)(SCEH)
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
來源：

E.coli
分子量：

55
表達區域：

28-290aa
氨基酸序列

ASGANFEYIIAEKRGKNNTVGLIQLNRPKALNALCDGLIDELNQALKTFEEDPAVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHWDHLTQVKKPVIAAVNGYAFGGGCELAMMCDIIYAGEKAQFAQPEILIGTIPGAGGTQRLTRAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETLVEEAIQCAEKIASNSKIVVAMAKESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ
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 GST-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.
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：

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：

Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate.
基因功能參考文獻：
1. Due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency. PMID: 28409271
2. exceeding nutrients suppress Enoyl-CoA hydratase-1 (ECHS1) activity by inducing its acetylation resulting in accumulation of fatty acids and branched-chain amino acids and oncogenic mTOR activation PMID: 28878358
3. ECHS1 mutations phenotype might be milder than reported earlier, compatible with prolonged survival, and also includes isolated paroxysmal exercise-induced dystonia. PMID: 27090768
4. Whole exome sequencing identified heterozygous ECHS1 mutations c.836T>C (novel) and c.8C>A for short-chain enoyl-CoA hydratase (SCEH) deficiency of which 1/2 of the cases are associated with secondary lymphocyte pyruvate dehydrogenase complex deficiency.[review] PMID: 28202214
5. This is the first report of homozygosity for a truncating mutation in ECHS1, which may explain the severe phenotype. Our report highlights the need to consider SCEH deficiency in patients with lethal neonatal lactic acidosis PMID: 27905109
6. Human ECHS1 catalyses the hydration of five substrates via different metabolic pathways, with the highest specificity for crotonyl-CoA and the lowest specificity for tiglyl-CoA PMID: 26251176
7. These results suggested that ECHS1 may promote cell proliferation in hepatocellular carcinoma in an EGFR-dependent manner. PMID: 25760819
8. In conclusion, the results of the present study suggested that ECHS1 may have an important role in colorectal cancer cell proliferation and migration PMID: 25739098
9. identification of four additional patients with mutations in ECHS1 highlights the importance of the valine degradation pathway in Leigh syndrome PMID: 26099313
10. ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. PMID: 25393721
11. ECHS1 may play important roles in gastric cancer cell proliferation and migration through PKB- and GSK3b-related signaling pathways. PMID: 25338767
12. The study demonstrated that ECHS1 mutations result in ECHS1 deficiency and are another cause of Leigh disease in two siblings. PMID: 25125611
13. ECHS1 knockdown reduced cell viability and enhanced cisplatin-induced apoptosis in hepatocellular carcinoma cells. PMID: 23879543
14. The results confirmed that small hepatitis B surface antigen (SHBs) interacted with ECHS1. PMID: 23275097
15. The coexistence of HBs and ECHS1 enhances HepG2 cell apoptosis, affects ECHS1 localization in the mitochondria and induces apoptosis by decreasing the mitochondrial membrane potential (MMP). PMID: 23178449
16. ECHS1 specifically represses STAT3 activity and negatively regulates the expression of several target genes of STAT3 through inhibiting STAT3 phosphorylation. PMID: 23416296
17. Expression of mitochondrial short chain enoyl-CoA hydratase (ECHS)was significantly down-modulated in virus infected glioblastoma cells and ECHS knockdown (siRNA) impaired virus replication and cytopathic effects. PMID: 17395278
顯示更多

收起更多
相關疾病：

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D)
亞細胞定位：

Mitochondrion matrix.
蛋白家族：

Enoyl-CoA hydratase/isomerase family
組織特異性：

Liver, fibroblast, muscle. Barely detectable in spleen and kidney.
數據庫鏈接：

HGNC: 3151

OMIM: 602292

KEGG: hsa:1892

STRING: 9606.ENSP00000357535

UniGene: Hs.76394