RYR1
Encyclopedia
Ryanodine receptor 1 also known as skeletal muscle calcium release channel or skeletal muscle-type ryanodine receptor is a protein
primarily found in skeletal muscle
. In humans, it is encoded by the RYR1 gene
.
release channel in the sarcoplasmic reticulum, as well as a connection between the sarcoplasmic reticulum and the transverse tubule.
susceptibility, central core disease
, and minicore myopathy with external ophthalmoplegia
. Alternatively spliced transcripts encoding different isoforms have been described.
with:
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
primarily found in skeletal muscle
Skeletal muscle
Skeletal muscle is a form of striated muscle tissue existing under control of the somatic nervous system- i.e. it is voluntarily controlled. It is one of three major muscle types, the others being cardiac and smooth muscle...
. In humans, it is encoded by the RYR1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
RYR1 functions as a calciumCalcium in biology
Calcium plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization...
release channel in the sarcoplasmic reticulum, as well as a connection between the sarcoplasmic reticulum and the transverse tubule.
Clinical significance
Mutations in the RYR1 gene are associated with malignant hyperthermiaMalignant hyperthermia
Malignant hyperthermia or malignant hyperpyrexia is a rare life-threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia; specifically, the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine...
susceptibility, central core disease
Central core disease
Central core disease , also known as central core myopathy, is an autosomal dominant congenital myopathy . It was first described by Shy and Magee in 1956...
, and minicore myopathy with external ophthalmoplegia
Ophthalmoparesis
Ophthalmoparesis or ophthalmoplegia refers to paralysis of one or more extraocular muscles which are responsible for eye movements. It is a physical finding in certain neurologic illnesses.-Classification:...
. Alternatively spliced transcripts encoding different isoforms have been described.
Interactions
RYR1 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with:
- calmodulinCalmodulinCalmodulin is a calcium-binding protein expressed in all eukaryotic cells...
, - FKBP1AFKBP1APeptidyl-prolyl cis-trans isomerase FKBP1A is an enzyme that in humans is encoded by the FKBP1A gene.-Interactions:FKBP1A has been shown to interact with RYR1, Mammalian target of rapamycin, TGF beta receptor 1, GLMN, ITPR1 and KIAA1303....
, - HOMER1HOMER1Homer protein homolog 1 or Homer1 is a neuronal protein that in humans is encoded by the HOMER1 gene. Other names are Vesl and PSD-Zip45.-Domain structure:...
, - HOMER2HOMER2Homer protein homolog 2 is a protein that in humans is encoded by the HOMER2 gene.-Further reading:...
, - HOMER3HOMER3Homer protein homolog 3 is a protein that in humans is encoded by the HOMER3 gene.-Interactions:HOMER3 has been shown to interact with TRPC1 and RYR1....
, and - TRDNTRDNTriadin, also known as TRDN, is a human geneassociated with the release of Calcium ions from the sarcoplasmic reticulum triggering muscular contraction through calcium-induced calcium release.-Further reading:...
.