Comparison

Recombinant Human Ryanodine receptor 1(RYR1),partial

Manufacturer Cusabio
Category
Type Proteins
Specific against other
Amount 1mg
Host E.coli
Item no. CSB-EP020619HU-1
eClass 6.1 34160400
eClass 9.0 42020190
Available
Research Topic
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
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.
Storage Buffer
Tris-based buffer, 50% glycerol
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
Amount: 1mg
Available: In stock
Listprice: €1,552.27
Price: €1,552.27
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