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RYR1 ryanodine receptor 1 (skeletal) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000540 Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_001042723 Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006723317 PREDICTED: Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006723318 PREDICTED: Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006723319 PREDICTED: Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

Related Services

Gene Symbol RYR1
Entrez Gene ID 6261
Full Name ryanodine receptor 1 (skeletal)
Synonyms CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR
General protein information
Preferred Names
ryanodine receptor 1
Names
ryanodine receptor 1
central core disease of muscle
type 1-like ryanodine receptor
skeletal muscle ryanodine receptor
skeletal muscle calcium release channel
sarcoplasmic reticulum calcium release channel
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19q13.1

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].
Disorder

MIM: 180901

{Malignant hyperthermia susceptibility 1}, 145600 (3); Central core

mRNA Protein Product Sequence Price Select
NM_000540, 113204614 NP_000531, 113204615 ryanodine receptor 1 isoform 1 ORF Sequence $-1.00
NM_001042723, 113204616 NP_001036188, 113204617 ryanodine receptor 1 isoform 2 ORF Sequence $-1.00
XM_006723317, 578834741 XP_006723380, 578834742 ryanodine receptor 1 isoform X1 ORF Sequence $-1.00
XM_006723318, 578834743 XP_006723381, 578834744 ryanodine receptor 1 isoform X2 ORF Sequence $-1.00
XM_006723319, 578834745 XP_006723382, 578834746 ryanodine receptor 1 isoform X3 ORF Sequence $-1.00
KEGG
hsa04020Calcium signaling pathway
hsa04730Long-term depression
hsa04713Circadian entrainment
hsa04921Oxytocin signaling pathway
WikiPathways
WP289Myometrial Relaxation and Contraction Pathways
WP536Calcium Regulation in the Cardiac Cell
Reactome
REACT_15518Transmembrane transport of small molecules
REACT_25300Ion channel transport
REACT_160189Stimuli-sensing channels
Homo sapiens (human)RYR1NP_000531.2
Pan troglodytes (chimpanzee)RYR1XP_003316361.1
Canis lupus familiaris (dog)RYR1XP_003638883.1
Bos taurus (cattle)RYR1NP_001193706.1
Mus musculus (house mouse)Ryr1NP_033135.2
Rattus norvegicus (Norway rat)Ryr1XP_006228792.1
Process
IDNameEvidence
GO:0001666response to hypoxiaIDA
GO:0003151outflow tract morphogenesisISS
GO:0006816calcium ion transportISS
GO:0006936muscle contractionISS
GO:0014808release of sequestered calcium ion into cytosol by sarcoplasmic reticulumISS
GO:0031000response to caffeineISS
GO:0034220ion transmembrane transportTAS
GO:0043588skin developmentISS
GO:0043931ossification involved in bone maturationISS
GO:0048741skeletal muscle fiber developmentISS
GO:0051209release of sequestered calcium ion into cytosolISS
GO:0051480cytosolic calcium ion homeostasisISS
GO:0055085transmembrane transportTAS
GO:0070588calcium ion transmembrane transportIEA
GO:0071313cellular response to caffeineISS
Component
IDNameEvidence
GO:0005737cytoplasmIDA
GO:0005790smooth endoplasmic reticulumTAS
GO:0005886plasma membraneIDA
GO:0005887integral component of plasma membraneTAS
GO:0005938cell cortexIDA
GO:0014701junctional sarcoplasmic reticulum membraneTAS
GO:0014802terminal cisternaISS
GO:0016529sarcoplasmic reticulumISS
GO:0030314junctional membrane complexIEA
GO:0030315T-tubuleIEA
GO:0031674I bandIDA
GO:0033017sarcoplasmic reticulum membraneISS
GO:0033017sarcoplasmic reticulum membraneTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0002020protease bindingIEA
GO:0005219ryanodine-sensitive calcium-release channel activityISS
GO:0005219ryanodine-sensitive calcium-release channel activityTAS
GO:0005245voltage-gated calcium channel activityISS
GO:0005262calcium channel activityISS
GO:0005509calcium ion bindingIEA
GO:0005515protein bindingIPI
GO:0005516calmodulin bindingISS
GO:0015278calcium-release channel activityTAS
GeneCards RYR1
UniProt P21817
Vega OTTHUMG00000182403
MIM 180901
Ensembl ENSG00000196218
HGNC 10483
HPRD 01618

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the RYR1 gene?

The RYR1 gene provides instructions for making a protein called ryanodine receptor 1. This protein is part of a family of ryanodine receptors, which form channels that transport positively charged calcium atoms (ions) within cells. Channels made with the ryanodine receptor 1 protein play a critical role in muscles used for movement (skeletal muscles).

For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of positively charged ions, including calcium, into muscle cells.

When muscles are at rest, calcium ions are stored in a cellular structure called the sarcoplasmic reticulum inside each muscle cell. In response to certain signals, the RYR1 channel releases calcium ions from the sarcoplasmic reticulum into the surrounding cell fluid (cytoplasm). The resulting increase in calcium ion concentration stimulates muscle fibers to contract, allowing the body to move. The process by which certain chemical signals trigger muscle contraction is called excitation-contraction (E-C) coupling.

Interactant

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