Recombinant Human Muscle, skeletal receptor tyrosine-protein kinase (MUSK), partial

Code CSB-EP015241HU
Size $224
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity
Greater than 90% as determined by SDS-PAGE.
Target Names
MUSK
Uniprot No.
Research Area
Signal Transduction
Alternative Names
MUSK; Muscle, skeletal receptor tyrosine-protein kinase; Muscle-specific tyrosine-protein kinase receptor; MuSK; Muscle-specific kinase receptor
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
24-495aa
Target Protein Sequence
LPKAPVITTPLETVDALVEEVATFMCAVESYPQPEISWTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMKPKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNVQKEDAGQYRCVAKNSLGTAYSKVVKLEVEEESEPEQDTKVFARILRAPESHNVTFGSFVTLHCTATGIPVPTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAATISIAEWREYCLAVKELFCAKEWLVMEEKTHRGLYRSEMHLLSVPECSKLPSMHWDPTACARLPHLAFPPMTSSKPSVDIPNLPSSSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLPSELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDI
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
78.8 kDa
Protein Length
partial of Isoform 2
Tag Info
N-terminal GST-tagged
Form
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.
Buffer
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, pH 8.0.
Reconstitution
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°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Notes
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.

Customer Reviews and Q&A

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 Q&A
Q:

I purchased the protein CSB-EP015241HU (lot #03633) previously that had an N-terminal GST-tag. I would like to ask what the MW would be of the protein if it had an N-terminal His-tag instead (if I chose to re-order it). Can you please advise on this?

A:
Very nice to receive your inquiry.
Recombinant Human Muscle, skeletal receptor tyrosine-protein kinase(MUSK), partial
CSB-EP015241HU >> E.coli
Expression Region: 24-495aa; Partial, provide the complete extracellular domain of the Isoform 2.
Tag information:N-terminal GST-tagged.
Sequence:

LPKAPVITTPLETVDALVEEVATFMCAVESYPQPEISWTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMKPKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNVQKEDAGQYRCVAKNSLGTAYSKVVKLEVEEESEPEQDTKVFARILRAPESHNVTFGSFVTLHCTATGIPVPTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAATISIAEWREYCLAVKELFCAKEWLVMEEKTHRGLYRSEMHLLSVPECSKLPSMHWDPTACARLPHLAFPPMTSSKPSVDIPNLPSSSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLPSELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDI


In addition, we also have successfully expressed this protein with our cell free expression system, which has already been validated the activity.
Recombinant Human Muscle, skeletal receptor tyrosine-protein kinase(MUSK),partial
CSB-CF015241HU
Expression Region: 24-495aa; Partial, provide the complete extracellular domain of the Isoform 2.
Tag information:N-terminal 6xHis-tagged
Sequence:

LPKAPVITTPLETVDALVEEVATFMCAVESYPQPEISWTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMKPKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNVQKEDAGQYRCVAKNSLGTAYSKVVKLEVEEESEPEQDTKVFARILRAPESHNVTFGSFVTLHCTATGIPVPTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAATISIAEWREYCLAVKELFCAKEWLVMEEKTHRGLYRSEMHLLSVPECSKLPSMHWDPTACARLPHLAFPPMTSSKPSVDIPNLPSSSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLPSELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDI


The protein CSB-EP015241HU (1mg, Lot# 03633) you ordered was shipped with N-terminal GST-tag. Mw: 79.4kDa
According to your description, we guess you want the the protein with a much smaller tag to exclude the background interfernce, in order to observe the specific reactivity.
(1) If you only want the smaller tag, probably you can consider to order the protein expressed by another expression sytem, such as the protein expressed from Yeast expression system.
(2) If you still want the E.coli expressed protein but need a smaller tag, then we have to re-design and change another vector with smaller tag to do subclone, the price will be higher and lead time will be longer.
(So what's your requirement for the tag, as long as the tag is smaller than N-terminal GST-tagged ? Or do you have some specific tag?)
If you want to order the protein with N-terminal His-tag, the expected Mw of EP, CF, MP is 56.5kDa, and YP, BP protein is 54.5kDa.

Target Background

Function
Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation.
Gene References into Functions
  1. Gene expression profiling showed that MuSK was required for the BMP4-induced expression of a subset of genes in myoblasts, including regulator of G protein signaling 4 (Rgs4). PMID: 27601729
  2. Classical electromyography revealed the presence of myopathic changes more frequently in MuSK myasthenia gravis compared to acetylcholine receptor myasthenia gravis PMID: 26778359
  3. A Dutch founder mutation in MUSK causing fetal akinesia deformation sequence has been found in 14 fetuses. PMID: 25537362
  4. To our knowledge, this is the first report showing that a mutation in MuSK is associated with Fetal akinesia deformation sequence syndrome PMID: 25612909
  5. Immunosuppression attenuates the Th1 response in AChR-myasthenia gravis (MG) and MuSK-MG, but otherwise modulates immune responses in AChR-MG and MuSK-MG patients differentially. PMID: 25893403
  6. HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform. PMID: 25354590
  7. MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters PMID: 24244707
  8. [review] Recent discovery of two novel target proteins (MuSK and LRP4) has reduced the percentage of patients without known autoantibodies, although there are still some seronegative myasthenia gravis patients. PMID: 24530233
  9. Identification of a novel missense mutation c.114T > A; p.Asp38Glu heteroallelic to a genomic deletion encompassing exons 2-3 of MUSK that explain a limb-girdle congenital myasthenic syndrome in two affected brothers of a Turkish family. PMID: 24183479
  10. HEp-2 M4 cells revealed a high specificity for the detection of MuSK autoantibodies from 25 patient sera. PMID: 24416182
  11. This study provides a replication of the highly significant associations of both HLA-DRB1( *)16,-DRB1( *)14 and -DQB1( *)05 with MuSK-MG. PMID: 23993985
  12. pathogenic IgG4 antibodies to MuSK bind to a structural epitope in the first Ig-like domain of MuSK, prevent binding between MuSK and Lrp4, and inhibit Agrin-stimulated MuSK phosphorylation. PMID: 24297891
  13. We proved that the missense mutations in ColQ-CTD cause endplate AChE deficiency by compromising ColQ-MuSK interaction at the NMJ. PMID: 23553736
  14. MUSK is associated with a small but variable subgroup of distinct phenotypes in Thai patients with myasthenia gravis who have MUSK autoantibodies. PMID: 23352351
  15. MUSK antibodies may induce phenotypically disruptive actions at the neuromuscular junction by binding acetylcholinesterase (AChE) via its collagen tail, producing a reduction in synaptic AChE activity. PMID: 23720161
  16. MuSK is activated in a complex spatio-temporal manner to cluster acetylcholine receptors on the postsynaptic (muscle) side of the synapse and to induce differentiation of the nerve terminal on the presynaptic side. (Review) PMID: 23467009
  17. We report a novel mutation in MUSK leading to a Congenital myasthenic syndromes PMID: 23326516
  18. MuSK kinase activity is necessary for substrate-dependent acetylcholine receptor cluster formation PMID: 22210232
  19. Two family cases are reported that transmit MuSK antibody myasthenia gravis to the offspring by different maternal mechanisms. PMID: 21386774
  20. The ability of immobilized MuSK extracellular domain to remove practically all anti-MuSK antibodies from patients' sera should prove invaluable for development of an antigen-specific therapeutic approach for MuSK myasthenia gravis. PMID: 21993075
  21. Lrp4 is a cis-acting ligand for MuSK PMID: 21969364
  22. The importance of MuSK as a synapse organiser is highlighted by cases of autoimmune myasthenia gravis in which MuSK autoantibodies can deplete MuSK from the postsynaptic membrane, leading to complete disassembly of the adult neuromuscular junction. PMID: 20974278
  23. 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
  24. Anti-MuSK protein positive patients have more predominantly bulbar involvement and had more severe myasthenia gravis. PMID: 19327804
  25. analysis of regulation of MuSK expression by a novel signaling pathway PMID: 12885777
  26. Missense mutation does not affect MuSK catalytic kinase activity but diminishes expression and stability. PMID: 15496425
  27. Thus, an agrin/MuSK complex may form part of a motor neuron stop signal involved in "reverse signaling" to the motor neuron. PMID: 15691710
  28. A low-molecular weight isoform of muscle-specific receptor tyrosine kinase in human sperm localized in the flagellar mid-piece region. PMID: 16487930
  29. Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK PMID: 16794080
  30. Altogether, these results indicate that anti-MuSK Abs could be pathogenic by contributing to the muscle atrophy in MuSK+ MG patients. PMID: 16857268
  31. muscle-specific receptor tyrosine kinase activation and binding to dystroglycan are regulated by alternative mRNA splicing of agrin PMID: 17012237
  32. Testing of human myotubes for the presence and activation of MuSK by exposing them to laminin. PMID: 17192614
  33. We describe a case of epileptic seizures secondary to myasthenia gravis caused by autoantibodies to the MUSK receptor. These autoantibodies affected the brain as well. PMID: 17661994
  34. the COOH-terminal NES and Src homology 2 target motifs play key roles in Dok-7/MuSK signaling for neuromuscular synaptogenesis. PMID: 18165682
  35. We describe a transient neonatal myasthenic syndrome with anti-musk antibodies. PMID: 18378885
  36. IgG from anti-MuSK-positive patients can cause myasthenia gravis when injected into mice. PMID: 18384168
  37. single-fiber electromyography of distal limb muscles tends to have a lower yield of abnormality in MuSK-antibody-positive patients than either acetylcholine receptor-antibody-positive or seronegative myasthenia gravis PMID: 18567855
  38. Thymectomy is mostly considered scarcely effective; however, at present, no firm conclusions can be drawn on its role in the treatment of this form of myasthenia gravis PMID: 18567856
  39. Anti-MuSK antibodies influence the activity of MuSK molecules without reducing their number, thereby diminishing the size of the endplate and affecting the functioning of acetylcholine receptors. PMID: 19745065
  40. This study report a family known so far with a congenital myasthenic syndromes due to a mutation in the MUSK gene. PMID: 19949040

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Involvement in disease
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9); Fetal akinesia deformation sequence (FADS)
Subcellular Location
Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein.
Protein Families
Protein kinase superfamily, Tyr protein kinase family
Database Links

HGNC: 7525

OMIM: 208150

KEGG: hsa:4593

STRING: 9606.ENSP00000363571

UniGene: Hs.521653

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