Recombinant Human Protein Dok-7 (DOK7)

中文名稱：

人DOK7重組蛋白
貨號：

CSB-YP623281HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人DOK7重組蛋白
貨號：

CSB-EP623281HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人DOK7重組蛋白
貨號：

CSB-EP623281HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人DOK7重組蛋白
貨號：

CSB-BP623281HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人DOK7重組蛋白
貨號：

CSB-MP623281HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

DOK7
Uniprot No.：

Q18PE1
別名：

Docking protein 7; DOK 7; DOK7; DOK7_HUMAN; Downstream of tyrosine kinase 7; Protein Dok-7
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-504
氨基酸序列

MTEAALVEGQ VKLRDGKKWK SRWLVLRKPS PVADCLLMLV YKDKSERIKG LRERSSLTLE DICGLEPGLP YEGLVHTLAI VCLSQAIMLG FDSHEAMCAW DARIRYALGE VHRFHVTVAP GTKLESGPAT LHLCNDVLVL ARDIPPAVTG QWKLSDLRRY GAVPSGFIFE GGTRCGYWAG VFFLSSAEGE QISFLFDCIV RGISPTKGPF GLRPVLPDPS PPGPSTVEER VAQEALETLQ LEKRLSLLSH AGRPGSGGDD RSLSSSSSEA SHLDVSASSR LTAWPEQSSS SASTSQEGPR PAAAQAAGEA MVGASRPPPK PLRPRQLQEV GRQSSSDSGI ATGSHSSYSS SLSSYAGSSL DVWRATDELG SLLSLPAAGA PEPSLCTCLP GTVEYQVPTS LRAHYDTPRS LCLAPRDHSP PSQGSPGNSA ARDSGGQTSA GCPSGWLGTR RRGLVMEAPQ GSEATLPGPA PGEPWEAGGP HAGPPPAFFS ACPVCGGLKV NPPP
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

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.
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.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產品評價

靶點詳情

功能：

Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
基因功能參考文獻：
1. Repression of Dok7 expression via DNMT1 mediated DNA methylation promotes glioma cell proliferation. PMID: 29990858
2. Silencing DNMT3A inhibits proliferation and invasion in ESCC cells by inducing demethylation of DOK7. PMID: 28343076
3. DOK7 was reduced in lung cancer and reduced DOK7 expression was associated with poorer survival.DOK7 isoform 1 plays an inhibitory role on the proliferation and migration of lung cancer cells. PMID: 28393246
4. Individuals with DOK7 congenital myasthenic syndrome displayed stridor and feeding difficulties at birth or progressive weakness despite normal milestones in infancy pointing to a diagnosis and should lead to neurophysiological and genetic investigation PMID: 23831158
5. this study demonistrated that Salbutamol is an effective treatment in patient wity congenital myasthenic syndrome due to DOK7 mutation. PMID: 23790237
6. DOK7 limb-girdle myasthenic syndrome can mimick congenital muscular dystrophy. PMID: 22884442
7. Hypermethylation of DOK7 occurs years before tumor diagnosis, suggesting a role as a powerful epigenetic blood-based biomarker as well as providing insights into breast cancer pathogenesis PMID: 23054610
8. In contrast to AChR deficiency due to epsilon subunit mutations, onset of DOK7 CMS tends to be later--ages two to three years--and in DOK7 CMS eye movements are usually spared and anticholinesterases can exacerbate the weakness PMID: 23278577
9. The DOK7 gene is highly polymorphic, and within these many variants, a spectrum of mutations that can underlie DOK7 Congenital myasthenic syndromes that will inform in managing this disorder, were defined. PMID: 22661499
10. Sequencing of DOK-7 in seronegative myasthenia gravis patients reveals no mutations. PMID: 21305573
11. 6 CMS patients with DOK7 mutations had congenital stridor, bilateral vocal cord palsy and difficulty with feeding PMID: 20554332
12. This study demonistreated that DOK7 mutation casused congenital myasthenic syndrome in French Canadians. PMID: 20610155
13. these findings demonstrate that missense mutations in MUSK can result in a severe form of congenital myasthenic syndrome and indicate that the inability of MuSK mutants to interact with Dok-7. PMID: 20371544
14. We report clinical, morphological and molecular data on 15 congenital myasthenic syndrome patients with mutations in DOK7; characterization of this distinct phenotype is essential to provide clues for targeted genetic screening and therapy PMID: 20012313
15. The crystal structure of the Dok7 PH-PTB domains in complex with a phosphopeptide representing the Dok7-binding site on MuSK, is presented. PMID: 20603078
16. Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK PMID: 16794080
17. findings showed that recessive inheritance of mutations in Dok-7, which result in a defective structure of the neuromuscular junction, is a cause of congenital myasthenic syndromes with proximal muscle weakness PMID: 16917026
18. study of patients with congenital myasthenic syndromes with mutations in DOK7; none with DOK7 mutations had tubular aggregates in muscle biopsy, implying 'limb-girdle myasthenia with tubular aggregates' may be distinct from CMS caused by DOK7 mutations PMID: 17439981
19. considerable phenotypic variability associated with congenital myasthenic syndrome due to DOK7 mutations PMID: 18161030
20. the COOH-terminal NES and Src homology 2 target motifs play key roles in Dok-7/MuSK signaling for neuromuscular synaptogenesis. PMID: 18165682
21. Dok-7 is essential for not only the size but also the structural integrity of the EP. The structural alterations at the EPs cause the reduced safety margin of neuromuscular transmission. PMID: 18626973
22. Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation. PMID: 19244212
23. whereas incomplete loss of DOK7 function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype PMID: 19261599
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相關疾病：

Myasthenic syndrome, congenital, 10 (CMS10)
亞細胞定位：

Cell membrane; Peripheral membrane protein. Cell junction, synapse.
組織特異性：

Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).
數據庫鏈接：

HGNC: 26594

OMIM: 254300

KEGG: hsa:285489

STRING: 9606.ENSP00000344432

UniGene: Hs.122110