Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
The function of skeletal muscle relies on the movement of Ca2+ out of and back into the storage compartment (SR). Ryanodine receptor 1 (RyR) functions as a Ca2+-release channels, releasing Ca2+ from the SR, resulting in muscle contraction [].Mutations in the RyR1 gene cause malignant hyperthermia 1 (MHS1), an autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia [, ]. |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Hernández-Ochoa EO |
Year: |
2015 |
Journal: |
Front Physiol |
Title: |
Critical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and Disease. |
Volume: |
6 |
|
Pages: |
420 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
5035
 |
Fragment?: |
false |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6306084 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-05-29 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757720 |
|
Stage: |
TS20 |
Assay Id: |
MGI:6306089 |
Age: |
embryonic day 12.5 |
Image: |
S1 |
|
Specimen Label: |
Ryr1 AG/AG |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6306084 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-05-29 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757722 |
|
Stage: |
TS22 |
Assay Id: |
MGI:6306092 |
Age: |
embryonic day 14.5 |
Image: |
S1 |
|
Specimen Label: |
Ryr1 AG/AG |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6306084 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-05-29 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757726 |
|
Stage: |
TS26 |
Assay Id: |
MGI:6306095 |
Age: |
embryonic day 18.5 |
Image: |
S1 |
|
Specimen Label: |
Ryr1 AG/AG |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6306084 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-05-29 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757726 |
|
Stage: |
TS26 |
Assay Id: |
MGI:6306102 |
Age: |
embryonic day 18.5 |
Image: |
6 |
|
Specimen Label: |
Ryr1 AG/AG |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6306084 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-05-29 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757726 |
|
Stage: |
TS26 |
Assay Id: |
MGI:6306102 |
Age: |
embryonic day 18.5 |
Image: |
6 |
|
Specimen Label: |
Ryr1 -/- |
Detected: |
false |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6306084 |
Assay Type: |
RT-PCR |
Annotation Date: |
2019-05-29 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757722 |
|
Stage: |
TS22 |
Assay Id: |
MGI:6306098 |
Age: |
embryonic day 14.5 |
Image: |
S1 |
|
Specimen Label: |
Ryr1 -/- |
Detected: |
false |
Specimen Num: |
2 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lee CS |
Year: |
2017 |
Journal: |
Nat Commun |
Title: |
A chemical chaperone improves muscle function in mice with a RyR1 mutation. |
Volume: |
8 |
|
Pages: |
14659 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
64
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Gillard EF |
Year: |
1992 |
Journal: |
Genomics |
Title: |
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. |
Volume: |
13 |
Issue: |
4 |
Pages: |
1247-54 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gillard EF |
Year: |
1991 |
Journal: |
Genomics |
Title: |
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. |
Volume: |
11 |
Issue: |
3 |
Pages: |
751-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chelu MG |
Year: |
2006 |
Journal: |
FASEB J |
Title: |
Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. |
Volume: |
20 |
Issue: |
2 |
Pages: |
329-30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pelletier L |
Year: |
2020 |
Journal: |
Acta Neuropathol Commun |
Title: |
In vivo RyR1 reduction in muscle triggers a core-like myopathy. |
Volume: |
8 |
Issue: |
1 |
Pages: |
192 |
|
•
•
•
•
•
|
Publication |
First Author: |
Durham WJ |
Year: |
2008 |
Journal: |
Cell |
Title: |
RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. |
Volume: |
133 |
Issue: |
1 |
Pages: |
53-65 |
|
•
•
•
•
•
|
Publication |
First Author: |
Thekkedam CG |
Year: |
2023 |
Journal: |
Int J Mol Sci |
Title: |
The RyR1 P3528S Substitution Alters Mouse Skeletal Muscle Contractile Properties and RyR1 Ion Channel Gating. |
Volume: |
25 |
Issue: |
1 |
|
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
5033
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
5061
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Avila G |
Year: |
2003 |
Journal: |
J Biol Chem |
Title: |
FKBP12 binding to RyR1 modulates excitation-contraction coupling in mouse skeletal myotubes. |
Volume: |
278 |
Issue: |
25 |
Pages: |
22600-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yang T |
Year: |
2006 |
Journal: |
Anesthesiology |
Title: |
Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. |
Volume: |
105 |
Issue: |
6 |
Pages: |
1164-75 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cully TR |
Year: |
2020 |
Journal: |
Redox Biol |
Title: |
Nox4 - RyR1 - Nox2: Regulators of micro-domain signaling in skeletal muscle. |
Volume: |
36 |
|
Pages: |
101557 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang HJ |
Year: |
2020 |
Journal: |
Nat Commun |
Title: |
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation. |
Volume: |
11 |
Issue: |
1 |
Pages: |
5099 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lopez RJ |
Year: |
2016 |
Journal: |
Sci Signal |
Title: |
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. |
Volume: |
9 |
Issue: |
435 |
Pages: |
ra68 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yarotskyy V |
Year: |
2012 |
Journal: |
Biophys J |
Title: |
Temperature and RyR1 regulate the activation rate of store-operated Ca²+ entry current in myotubes. |
Volume: |
103 |
Issue: |
2 |
Pages: |
202-11 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lanner JT |
Year: |
2012 |
Journal: |
Nat Med |
Title: |
AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation. |
Volume: |
18 |
Issue: |
2 |
Pages: |
244-51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bannister RA |
Year: |
2010 |
Journal: |
J Gen Physiol |
Title: |
A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels. |
Volume: |
135 |
Issue: |
6 |
Pages: |
629-40 |
|
•
•
•
•
•
|
Publication |
First Author: |
Elbaz M |
Year: |
2019 |
Journal: |
Hum Mol Genet |
Title: |
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength. |
Volume: |
28 |
Issue: |
18 |
Pages: |
2987-2999 |
|
•
•
•
•
•
|
Publication |
First Author: |
Estève E |
Year: |
2010 |
Journal: |
J Gen Physiol |
Title: |
A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR. |
Volume: |
135 |
Issue: |
6 |
Pages: |
619-28 |
|
•
•
•
•
•
|
Publication |
First Author: |
Elbaz M |
Year: |
2019 |
Journal: |
Hum Mol Genet |
Title: |
Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres. |
Volume: |
28 |
Issue: |
11 |
Pages: |
1872-1884 |
|
•
•
•
•
•
|
Publication |
First Author: |
Andronache Z |
Year: |
2009 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice. |
Volume: |
106 |
Issue: |
11 |
Pages: |
4531-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Filipova D |
Year: |
2018 |
Journal: |
PLoS One |
Title: |
Distinct transcriptomic changes in E14.5 mouse skeletal muscle lacking RYR1 or Cav1.1 converge at E18.5. |
Volume: |
13 |
Issue: |
3 |
Pages: |
e0194428 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang IX |
Year: |
2023 |
Journal: |
J Biol Chem |
Title: |
ER stress increases expression of intracellular calcium channel RyR1 to modify Ca(2+) homeostasis in pancreatic beta cells. |
Volume: |
299 |
Issue: |
8 |
Pages: |
105065 |
|
•
•
•
•
•
|
Publication |
First Author: |
Diercks BP |
Year: |
2018 |
Journal: |
Sci Signal |
Title: |
ORAI1, STIM1/2, and RYR1 shape subsecond Ca2+ microdomains upon T cell activation. |
Volume: |
11 |
Issue: |
561 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Eckhardt J |
Year: |
2020 |
Journal: |
Hum Mol Genet |
Title: |
Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations. |
Volume: |
29 |
Issue: |
8 |
Pages: |
1330-1339 |
|
•
•
•
•
•
|
Publication |
First Author: |
Martins-Wess F |
Year: |
2002 |
Journal: |
Genomics |
Title: |
Construction of a 1.2-Mb BAC/PAC contig of the porcine gene RYR1 region on SSC 6q1.2 and comparative analysis with HSA 19q13.13. |
Volume: |
80 |
Issue: |
4 |
Pages: |
416-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shtifman A |
Year: |
2004 |
Journal: |
Am J Physiol Cell Physiol |
Title: |
Ca2+ influx through alpha1S DHPR may play a role in regulating Ca2+ release from RyR1 in skeletal muscle. |
Volume: |
286 |
Issue: |
1 |
Pages: |
C73-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chang L |
Year: |
2020 |
Journal: |
J Biol Chem |
Title: |
Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia. |
Volume: |
295 |
Issue: |
45 |
Pages: |
15226-15235 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hanson MG |
Year: |
2015 |
Journal: |
Elife |
Title: |
Potassium dependent rescue of a myopathy with core-like structures in mouse. |
Volume: |
4 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Nogami K |
Year: |
2020 |
Journal: |
BMC Musculoskelet Disord |
Title: |
iNOS is not responsible for RyR1 S-nitrosylation in mdx mice with truncated dystrophin. |
Volume: |
21 |
Issue: |
1 |
Pages: |
479 |
|
•
•
•
•
•
|
Publication |
First Author: |
Germani S |
Year: |
2022 |
Journal: |
Sci Rep |
Title: |
Loss-of-rescue of Ryr1(I4895T)-related pathology by the genetic inhibition of the ER stress response mediator CHOP. |
Volume: |
12 |
Issue: |
1 |
Pages: |
20632 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gartz Hanson M |
Year: |
2015 |
Journal: |
Dev Biol |
Title: |
Rectification of muscle and nerve deficits in paralyzed ryanodine receptor type 1 mutant embryos. |
Volume: |
404 |
Issue: |
2 |
Pages: |
76-87 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yamazawa T |
Year: |
2021 |
Journal: |
Nat Commun |
Title: |
A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke. |
Volume: |
12 |
Issue: |
1 |
Pages: |
4293 |
|
•
•
•
•
•
|
Publication |
First Author: |
Andersson DC |
Year: |
2012 |
Journal: |
J Physiol |
Title: |
Stress-induced increase in skeletal muscle force requires protein kinase A phosphorylation of the ryanodine receptor. |
Volume: |
590 |
Issue: |
24 |
Pages: |
6381-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kakizawa S |
Year: |
2012 |
Journal: |
EMBO J |
Title: |
Nitric oxide-induced calcium release via ryanodine receptors regulates neuronal function. |
Volume: |
31 |
Issue: |
2 |
Pages: |
417-28 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wright NT |
Year: |
2008 |
Journal: |
J Biol Chem |
Title: |
S100A1 and calmodulin compete for the same binding site on ryanodine receptor. |
Volume: |
283 |
Issue: |
39 |
Pages: |
26676-83 |
|
•
•
•
•
•
|
Publication |
First Author: |
Barone V |
Year: |
1998 |
Journal: |
FEBS Lett |
Title: |
Contractile impairment and structural alterations of skeletal muscles from knockout mice lacking type 1 and type 3 ryanodine receptors. |
Volume: |
422 |
Issue: |
2 |
Pages: |
160-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Andersson DC |
Year: |
2011 |
Journal: |
Cell Metab |
Title: |
Ryanodine receptor oxidation causes intracellular calcium leak and muscle weakness in aging. |
Volume: |
14 |
Issue: |
2 |
Pages: |
196-207 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zvaritch E |
Year: |
2007 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line. |
Volume: |
104 |
Issue: |
47 |
Pages: |
18537-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zvaritch E |
Year: |
2009 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. |
Volume: |
106 |
Issue: |
51 |
Pages: |
21813-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Brennan S |
Year: |
2019 |
Journal: |
Hum Mol Genet |
Title: |
Mouse model of severe recessive RYR1-related myopathy. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Boncompagni S |
Year: |
2009 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Characterization and temporal development of cores in a mouse model of malignant hyperthermia. |
Volume: |
106 |
Issue: |
51 |
Pages: |
21996-2001 |
|
•
•
•
•
•
|
Publication |
First Author: |
Suman M |
Year: |
2018 |
Journal: |
Hum Mol Genet |
Title: |
Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients. |
Volume: |
27 |
Issue: |
13 |
Pages: |
2367-2382 |
|
•
•
•
•
•
|
Publication |
First Author: |
De Crescenzo V |
Year: |
2012 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype. |
Volume: |
109 |
Issue: |
2 |
Pages: |
610-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fritz N |
Year: |
2007 |
Journal: |
J Cell Sci |
Title: |
RyR1-specific requirement for depolarization-induced Ca2+ sparks in urinary bladder smooth muscle. |
Volume: |
120 |
Issue: |
Pt 21 |
Pages: |
3784-91 |
|
•
•
•
•
•
|
Publication |
First Author: |
Giulivi C |
Year: |
2011 |
Journal: |
J Biol Chem |
Title: |
Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice. |
Volume: |
286 |
Issue: |
1 |
Pages: |
99-113 |
|
•
•
•
•
•
|
Publication |
First Author: |
Eltit JM |
Year: |
2013 |
Journal: |
FASEB J |
Title: |
Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia. |
Volume: |
27 |
Issue: |
3 |
Pages: |
991-1000 |
|
•
•
•
•
•
|
Publication |
First Author: |
Osman V |
Year: |
2023 |
Journal: |
eNeuro |
Title: |
Isoflurane Alters Presynaptic Endoplasmic Reticulum Calcium Dynamics in Wild-Type and Malignant Hyperthermia-Susceptible Rodent Hippocampal Neurons. |
Volume: |
10 |
Issue: |
8 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Magyar ZÉ |
Year: |
2023 |
Journal: |
Sci Rep |
Title: |
Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy. |
Volume: |
13 |
Issue: |
1 |
Pages: |
14659 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ruiz A |
Year: |
2022 |
Journal: |
Elife |
Title: |
Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors. |
Volume: |
11 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mickelson JR |
Year: |
1996 |
Journal: |
Physiol Rev |
Title: |
Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects. |
Volume: |
76 |
Issue: |
2 |
Pages: |
537-92 |
|
•
•
•
•
•
|
Publication |
First Author: |
Avila G |
Year: |
2003 |
Journal: |
J Gen Physiol |
Title: |
The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease. |
Volume: |
121 |
Issue: |
4 |
Pages: |
277-86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Beutner G |
Year: |
2005 |
Journal: |
Biochim Biophys Acta |
Title: |
Type 1 ryanodine receptor in cardiac mitochondria: transducer of excitation-metabolism coupling. |
Volume: |
1717 |
Issue: |
1 |
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Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
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