catalog number :
MBS9420633
products type :
Recombinant Protein
products full name :
Recombinant Human Ryanodine receptor 1
products short name :
[Ryanodine receptor 1]
products name syn :
[Skeletal muscle calcium release channelSkeletal muscle ryanodine receptorSkeletal muscle-type ryanodine receptorType 1 ryanodine receptor]
other names :
[ryanodine receptor 1 isoform 1; Ryanodine receptor 1; ryanodine receptor 1; ryanodine receptor 1; Skeletal muscle calcium release channel; Skeletal muscle ryanodine receptor; Skeletal muscle-type ryanodine receptor; Type 1 ryanodine receptor]
products gene name :
[RYR1]
other gene names :
[RYR1; RYR1; CCO; MHS; RYR; MHS1; RYDR; SKRR; RYR-1; PPP1R137; RYDR; RYR-1; RyR1]
sequence positions :
[1-534aa. Partial]
sequence :
MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAE
GFGNRLCFLEPTSNAQNVPPDLAICCFVLEQSLSVRALQ
EMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYL
SCLTTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQR
SEGEKVRVGDDIILVSVSSERYLHLSTASGELQVDASFM
QTLWNMNPICSRCEEGFVTGGHVLRLFHGHMDECLTISP
ADSDDQRRLVYYEGGAVCTHARSLWRLEPLRISWSGSHL
RWGQPLRVRHVTTGQYLALTEDQGLVVVDASKAHTKATS
FCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVA
SGLWLTYAAPDPKALRLGVLKKKAMLHQEGHMDDALSLT
RCQQEESQAARMIHSTNGLYNQFIKSLDSFSGKPRGSGP
PAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLR
SLRNRQSLFQEEGMLSMVLNCIDRLNVYTTAAHFAEFAG
EEAAESWKEIVNLLYELLASLIRGNRS
purity :
Greater than 90% as determined by SDS-PAGE
form :
Tris-based buffer 50% glycerol
storage stability :
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. Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
other info1 :
Tag Info: N-Terminal 6xHis-Tagged
products description :
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.
ncbi acc num :
NP_000531.2
ncbi gb acc num :
NM_000540.2
ncbi mol weight :
63.3 kDa
ncbi pathways :
Calcium Regulation In The Cardiac Cell Pathway (198906); Calcium Signaling Pathway (83050); Calcium Signaling Pathway (459); Cardiac Conduction Pathway (1339115); Cell-type Dependent Selectivity Of CCK2R Signaling Pathway (1458244); Circadian Entrainment Pathway (698773); Circadian Entrainment Pathway (699872); Ion Channel Transport Pathway (1269950); Ion Homeostasis Pathway (1339121); Long-term Depression Pathway (83086)
ncbi summary :
This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
uniprot summary :
RYR1: Calcium channel that controls communication between transverse-tubules and sarcoplasmic reticulum. Contraction of skeletal muscle is triggered by release of calcium ions from SR following depolarization of T-tubules. Can mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal development of muscle fibers, skeletal muscle, heart morphogenesis, and skin development and ossification during embryogenesis. Defects in RYR1 are the cause of malignant hyperthermia susceptibility type 1 (MHS1) and central core disease of muscle (CCD). CCD is an autosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Defects in RYR1 are the cause of multiminicore disease with external ophthalmoplegia (MMDO), congenital myopathy with fiber-type disproportion (CFTD). Defects in RYR1 may be a cause of Samaritan myopathy, a congenital myopathy with benign course. Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily. 3 isoforms of the human protein are produced by alternative splicing. Protein type: Channel, calcium; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel. Chromosomal Location of Human Ortholog: 19q13.2. Cellular Component: cell cortex; cytoplasm; I band; integral to plasma membrane; plasma membrane; sarcoplasmic reticulum; sarcoplasmic reticulum membrane. Molecular Function: ATP binding; calcium channel activity; calcium ion binding; calcium-induced calcium release activity; calcium-release channel activity; calmodulin binding; protein binding; ryanodine-sensitive calcium-release channel activity; voltage-gated calcium channel activity. Biological Process: calcium ion transport; cytosolic calcium ion homeostasis; muscle contraction; protein homotetramerization; release of sequestered calcium ion by sarcoplasmic reticulum into cytosol; release of sequestered calcium ion into cytosol; response to caffeine; response to hypoxia; skeletal muscle fiber development; skin development. Disease: Central Core Disease Of Muscle; Malignant Hyperthermia, Susceptibility To, 1; Minicore Myopathy With External Ophthalmoplegia; Myopathy, Congenital, With Fiber-type Disproportion