Manufacturer |
Cusabio
|
Category |
|
Type |
Proteins Recombinant |
Specific against |
other |
Amount |
1mg |
Host |
E.coli |
Item no. |
CSB-EP020619HU-1 |
eClass 6.1 |
34160400 |
eClass 9.0 |
42020190 |
Available |
|
Research Areas |
Transport |
Uniprot ID |
P21817 |
Gene Names |
RYR1 |
Organism |
Homo sapiens (Human) |
AA Sequence |
MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLC LAAEGFGNRLCFLEPTSNAQNVPPDLAICCFVLEQ SLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHA ILLRHAHSRMYLSCLTTSRSMTDKLAFDVGLQEDA TGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSS ERYLHLSTASGELQVDASFMQTLWNMNPICSRCEE GFVTGGHVLRLFHGHMDECLTISPADSDDQRRLVY YEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLR VRHVTTGQYLALTEDQGLVVVDASKAHTKATSFCF RISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHV ASGLWLTYAAPDPKALRLGVLKKKAMLHQEGHMDD ALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSF SGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPS EDLQHEEKQSKLRSLRNRQSLFQEEGMLSMVLNCI DRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELL ASLIRGNRS |
Expression Region |
1-534aa |
Sequence Info |
Partial |
Source |
E.coli |
Tag Info |
N-terminal 6xHis-tagged |
MW |
63.3 kDa |
Alternative Name(s) |
Skeletal muscle calcium release channelSkeletal muscle ryanodine receptorSkeletal muscle-type ryanodine receptorType 1 ryanodine receptor |
Relevance |
Calcium channel that mediates the release of Ca2+ from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca2+ leaking into the cytoplasm. Can also mediate the release of Ca2+ from intracellular stores in neurons, and may thereby promote prolonged Ca2+ signaling in the brain. Required for normal bryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during bryogenesis . |
Reference |
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.Bohm J., Leshinsky-Silver E., Vassilopoulos S., Le Gras S., Lerman-Sagie T., Ginzberg M., Jost B., Lev D., Laporte J.Acta Neuropathol. 124:575-581(2012) |
Purity |
Greater than 90% as determined by SDS-PAGE. |
Form |
Liquid or Lyophilized powder |
Buffer |
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, 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 -20C/-80C. Our default final concentration of glycerol is 50%. Customers could use it as reference. |
Storage |
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 -20C/-80C. The shelf life of lyophilized form is 12 months at -20C/-80C. |
Notes |
Repeated freezing and thawing is not recommended. Store working aliquots at 4C for up to one week. |
Function |
Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules |
Involvement in disease |
Malignant hyperthermia 1 (MHS1); Central core disease of muscle (CCD); Multiminicore disease with external ophthalmoplegia (MMDO) |
Subcellular Location |
Sarcoplasmic reticulum membrane, Multi-pass membrane protein, Sarcoplasmic reticulum |
Protein Families |
Ryanodine receptor (TC 1.A.3.1) family, RYR1 subfamily |
Tissue Specificity |
Skeletal muscle and brain (cerebellum and hippocampus). |
Paythway |
Calciumsignalingpathway |
Note: The presented information and documents (Manual, Product Datasheet, Safety Datasheet and Certificate of Analysis) correspond to our latest update and should serve for orientational purpose only. We do not guarantee the topicality. We would kindly ask you to make a request for specific requirements, if necessary.
All products are intended for research use only (RUO). Not for human, veterinary or therapeutic use.