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P21817

- RYR1_HUMAN

UniProt

P21817 - RYR1_HUMAN

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Protein
Ryanodine receptor 1
Gene
RYR1, RYDR
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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 embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis By similarity.1 Publication

GO - Molecular functioni

  1. calcium channel activity Source: UniProtKB
  2. calcium ion binding Source: InterPro
  3. calcium-release channel activity Source: ProtInc
  4. calmodulin binding Source: BHF-UCL
  5. protein binding Source: IntAct
  6. ryanodine-sensitive calcium-release channel activity Source: UniProtKB
  7. voltage-gated calcium channel activity Source: UniProtKB

GO - Biological processi

  1. calcium ion transport Source: BHF-UCL
  2. cellular response to caffeine Source: UniProtKB
  3. cytosolic calcium ion homeostasis Source: BHF-UCL
  4. ion transmembrane transport Source: Reactome
  5. muscle contraction Source: UniProtKB
  6. ossification involved in bone maturation Source: UniProtKB
  7. outflow tract morphogenesis Source: UniProtKB
  8. release of sequestered calcium ion into cytosol Source: BHF-UCL
  9. release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: UniProtKB
  10. response to caffeine Source: BHF-UCL
  11. response to hypoxia Source: BHF-UCL
  12. skeletal muscle fiber development Source: UniProtKB
  13. skin development Source: UniProtKB
  14. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Developmental protein, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium, Calmodulin-binding

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.

Protein family/group databases

TCDBi1.A.3.1.2. the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Ryanodine receptor 1
Short name:
RYR-1
Short name:
RyR1
Alternative name(s):
Skeletal muscle calcium release channel
Skeletal muscle ryanodine receptor
Skeletal muscle-type ryanodine receptor
Type 1 ryanodine receptor
Gene namesi
Name:RYR1
Synonyms:RYDR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:10483. RYR1.

Subcellular locationi

Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein Inferred
Note: The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 43264326Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei4327 – 434721Helical; Reviewed prediction
Add
BLAST
Transmembranei4348 – 436821Helical; Reviewed prediction
Add
BLAST
Transmembranei4560 – 458021Helical; Reviewed prediction
Add
BLAST
Transmembranei4652 – 467221Helical; Reviewed prediction
Add
BLAST
Transmembranei4781 – 480121Helical; Reviewed prediction
Add
BLAST
Transmembranei4808 – 482821Helical; Reviewed prediction
Add
BLAST
Transmembranei4840 – 486021Helical; Reviewed prediction
Add
BLAST
Intramembranei4891 – 490010Pore-forming; By similarity
Transmembranei4921 – 494121Helical; Reviewed prediction
Add
BLAST
Topological domaini4942 – 503897Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. I band Source: UniProtKB
  2. T-tubule Source: Ensembl
  3. cell cortex Source: UniProtKB
  4. cytoplasm Source: UniProtKB
  5. extracellular vesicular exosome Source: UniProt
  6. integral component of plasma membrane Source: ProtInc
  7. junctional membrane complex Source: Ensembl
  8. junctional sarcoplasmic reticulum membrane Source: BHF-UCL
  9. plasma membrane Source: UniProtKB
  10. sarcoplasmic reticulum Source: BHF-UCL
  11. sarcoplasmic reticulum membrane Source: UniProtKB
  12. smooth endoplasmic reticulum Source: ProtInc
  13. terminal cisterna Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Malignant hyperthermia 1 (MHS1) [MIM:145600]: Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro' contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively).
Note: The disease is caused by mutations affecting the gene represented in this entry.36 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131L → R in MHS1. 1 Publication
VAR_058560
Natural varianti35 – 351C → R in MHS1. 2 Publications
VAR_005589
Natural varianti44 – 441R → C in CCD and MHS1. 1 Publication
VAR_045695
Natural varianti163 – 1631R → C in CCD and MHS1; 2-3% of the cases. 7 Publications
VAR_005590
Natural varianti163 – 1631R → L in MHS1; induces an increase sensitivity to caffeine. 1 Publication
VAR_045697
Natural varianti165 – 1651G → R in MHS1. 1 Publication
VAR_045698
Natural varianti166 – 1661D → N in MHS1. 2 Publications
VAR_045699
Natural varianti177 – 1771R → C in MHS1. 1 Publication
VAR_045700
Natural varianti178 – 1781Y → C in MHS1. 1 Publication
VAR_045701
Natural varianti226 – 2261M → K in MHS1. 1 Publication
VAR_058561
Natural varianti227 – 2271D → V in MHS1. 1 Publication
VAR_045703
Natural varianti248 – 2481G → R in MHS1; unknown pathological significance. 4 Publications
Corresponds to variant rs1801086 [ dbSNP | Ensembl ].
VAR_005591
Natural varianti328 – 3281R → W in MHS1; has increased sensitivity to both caffeine and halothane. 2 Publications
VAR_045704
Natural varianti341 – 3411G → R in MHS1; 10% of the cases. 4 Publications
Corresponds to variant rs28933997 [ dbSNP | Ensembl ].
VAR_005592
Natural varianti367 – 3671R → L in MHS1. 1 Publication
VAR_058562
Natural varianti382 – 3821H → N in MHS1. 1 Publication
VAR_068510
Natural varianti401 – 4011R → C in MHS1. 2 Publications
VAR_045705
Natural varianti401 – 4011R → H in MHS1. 2 Publications
VAR_045706
Natural varianti401 – 4011R → S in MHS1. 1 Publication
VAR_045707
Natural varianti403 – 4031I → M in CCD and MHS1. 2 Publications
VAR_005593
Natural varianti522 – 5221Y → S in CCD and MHS1. 2 Publications
VAR_005595
Natural varianti530 – 5301R → H in MHS1. 1 Publication
VAR_058563
Natural varianti533 – 5331R → C in MHS1. 1 Publication
VAR_045708
Natural varianti533 – 5331R → H in MHS1.
VAR_008971
Natural varianti544 – 5441D → Y in MHS1. 1 Publication
VAR_058564
Natural varianti552 – 5521R → W in MHS1. 2 Publications
VAR_005596
Natural varianti614 – 6141R → C in CCD and MHS1; 3-5% of the cases. 9 Publications
Corresponds to variant rs28933996 [ dbSNP | Ensembl ].
VAR_005597
Natural varianti614 – 6141R → L in MHS1. 2 Publications
VAR_005598
Natural varianti1043 – 10431R → C in MHS1. 1 Publication
VAR_058565
Natural varianti1058 – 10581E → K in MHS1. 1 Publication
VAR_068511
Natural varianti1352 – 13521A → G in MHS1. 1 Publication
Corresponds to variant rs112105381 [ dbSNP | Ensembl ].
VAR_058566
Natural varianti2117 – 21171V → L in MHS1. 1 Publication
VAR_045712
Natural varianti2129 – 21291D → E in MHS1. 2 Publications
Corresponds to variant rs117886618 [ dbSNP | Ensembl ].
VAR_045713
Natural varianti2163 – 21631R → C in MHS1. 3 Publications
Corresponds to variant rs28933998 [ dbSNP | Ensembl ].
VAR_005601
Natural varianti2163 – 21631R → H in CCD and MHS1. 3 Publications
Corresponds to variant rs28933999 [ dbSNP | Ensembl ].
VAR_005602
Natural varianti2163 – 21631R → P in MHS1. 1 Publication
VAR_008972
Natural varianti2168 – 21681V → M in CCD and MHS1; no difference in the thapsigargin-sensitive calcium stores of cells carrying this mutation and the wild-type. 8 Publications
VAR_005603
Natural varianti2206 – 22061T → M in MHS1; induces an increase sensitivity to caffeine. 6 Publications
Corresponds to variant rs28934000 [ dbSNP | Ensembl ].
VAR_005604
Natural varianti2206 – 22061T → R in MHS1. 1 Publication
VAR_008973
Natural varianti2214 – 22141V → I in MHS1. 2 Publications
VAR_045714
Natural varianti2280 – 22801V → I in MHS1. 1 Publication
VAR_045715
Natural varianti2336 – 23361R → H in MHS1. 1 Publication
VAR_058568
Natural varianti2342 – 23421N → S in MHS1. 1 Publication
Corresponds to variant rs147213895 [ dbSNP | Ensembl ].
VAR_045716
Natural varianti2344 – 23441E → D in MHS1; unknown pathological significance. 1 Publication
VAR_045717
Natural varianti2346 – 23461V → M in MHS1. 2 Publications
VAR_045718
Natural varianti2347 – 23471Missing in MHS1. 1 Publication
VAR_045719
Natural varianti2348 – 23481E → G in MHS1. 1 Publication
VAR_045720
Natural varianti2350 – 23501A → T in MHS1; reveals an altered calcium dependence and increased caffeine sensitivity. 3 Publications
VAR_045721
Natural varianti2355 – 23551R → C in MHS1. 1 Publication
VAR_045722
Natural varianti2367 – 23671A → T in MHS1. 2 Publications
VAR_045723
Natural varianti2404 – 24041E → K in MHS1. 1 Publication
VAR_058569
Natural varianti2428 – 24281A → T in MHS1; induces an increase sensitivity to caffeine. 2 Publications
VAR_045725
Natural varianti2431 – 24311D → N in MHS1. 2 Publications
VAR_045726
Natural varianti2434 – 24341G → R in MHS1. 7 Publications
VAR_005605
Natural varianti2435 – 24351R → H in CCD and MHS1. 3 Publications
Corresponds to variant rs28933396 [ dbSNP | Ensembl ].
VAR_005606
Natural varianti2435 – 24351R → L in MHS1. 3 Publications
VAR_008974
Natural varianti2437 – 24371A → V in MHS1. 1 Publication
VAR_045727
Natural varianti2452 – 24521R → W in MHS1. 3 Publications
VAR_045728
Natural varianti2454 – 24541R → C in MHS1; induces an increase sensitivity to caffeine. 3 Publications
VAR_008975
Natural varianti2454 – 24541R → H in CCD and MHS1; severe form; induces an increase sensitivity to caffeine. 7 Publications
VAR_008976
Natural varianti2458 – 24581R → C in MHS1. 3 Publications
Corresponds to variant rs28933397 [ dbSNP | Ensembl ].
VAR_008977
Natural varianti2458 – 24581R → H in MHS1. 2 Publications
VAR_008978
Natural varianti2676 – 26761R → W in MHS1; located on the same allele as S-2787. 3 Publications
Corresponds to variant rs28934001 [ dbSNP | Ensembl ].
VAR_045729
Natural varianti2730 – 27301D → G in MHS1. 1 Publication
VAR_058571
Natural varianti2787 – 27871T → S in MHS1; located on the same allele as W-2676. 3 Publications
Corresponds to variant rs35180584 [ dbSNP | Ensembl ].
VAR_045730
Natural varianti2880 – 28801E → K in MHS1. 1 Publication
VAR_058572
Natural varianti3217 – 32171S → P in MHS1. 1 Publication
VAR_058573
Natural varianti3290 – 32901E → K in MHS1. 1 Publication
VAR_058574
Natural varianti3772 – 37721R → W in MHS1. 1 Publication
VAR_058576
Natural varianti3806 – 38061G → R in MHS1. 1 Publication
VAR_058577
Natural varianti3916 – 39161I → M in MHS1. 2 Publications
VAR_045735
Natural varianti4136 – 41361R → S in MHS1. 1 Publication
VAR_045736
Natural varianti4234 – 42341V → L in MHS1. 1 Publication
VAR_045738
Natural varianti4501 – 45011P → L in MHS1. 1 Publication
Corresponds to variant rs73933023 [ dbSNP | Ensembl ].
VAR_058578
Natural varianti4684 – 46841F → S in MHS1. 1 Publication
VAR_045747
Natural varianti4737 – 47371R → Q in MHS1. 1 Publication
VAR_045749
Natural varianti4737 – 47371R → W in MHS1. 2 Publications
VAR_045750
Natural varianti4824 – 48241L → P in MHS1. 2 Publications
VAR_045754
Natural varianti4826 – 48261T → I in MHS1. 2 Publications
VAR_045756
Natural varianti4838 – 48381L → V in MHS1. 3 Publications
VAR_045757
Natural varianti4849 – 48491V → I in MHS1 and CCD; autosomal recessive form. 4 Publications
VAR_045760
Natural varianti4876 – 48761K → R in MHS1. 2 Publications
VAR_045766
Natural varianti4898 – 48981I → T in CCD; severe phenotype; also present in some patients with MHS1; no response to the agonists halothane and caffeine. 4 Publications
VAR_045771
Natural varianti4938 – 49381I → T in MHS1. 1 Publication
VAR_058579
Natural varianti4939 – 49391D → E in MHS1. 2 Publications
VAR_045779
Natural varianti4942 – 49421G → V in MHS1. 1 Publication
VAR_045781
Natural varianti4973 – 49731P → L in MHS1. 3 Publications
VAR_045782
Central core disease of muscle (CCD) [MIM:117000]: Autosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Both clinical and histological variability is observed. Affected individuals typically display hypotonia and proximal muscle weakness in infancy, leading to the delay of motor milestones. The clinical course of the disorder is usually slow or nonprogressive in adulthood, and the severity of the symptoms may vary from normal to significant muscle weakness. Microscopic examination of CCD-affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques.
Note: The disease is caused by mutations affecting the gene represented in this entry.22 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131L → V in CCD; autosomal recessive form. 1 Publication
VAR_045694
Natural varianti44 – 441R → C in CCD and MHS1. 1 Publication
VAR_045695
Natural varianti160 – 1601E → G in CCD. 2 Publications
VAR_045696
Natural varianti163 – 1631R → C in CCD and MHS1; 2-3% of the cases. 7 Publications
VAR_005590
Natural varianti215 – 2151G → E in CCD; autosomal recessive form. 1 Publication
VAR_045702
Natural varianti403 – 4031I → M in CCD and MHS1. 2 Publications
VAR_005593
Natural varianti522 – 5221Y → S in CCD and MHS1. 2 Publications
VAR_005595
Natural varianti614 – 6141R → C in CCD and MHS1; 3-5% of the cases. 9 Publications
Corresponds to variant rs28933996 [ dbSNP | Ensembl ].
VAR_005597
Natural varianti1704 – 17041G → S in CCD; autosomal recessive form. 1 Publication
VAR_045709
Natural varianti2163 – 21631R → H in CCD and MHS1. 3 Publications
Corresponds to variant rs28933999 [ dbSNP | Ensembl ].
VAR_005602
Natural varianti2168 – 21681V → M in CCD and MHS1; no difference in the thapsigargin-sensitive calcium stores of cells carrying this mutation and the wild-type. 8 Publications
VAR_005603
Natural varianti2204 – 22041H → Q in CCD. 1 Publication
Corresponds to variant rs141646642 [ dbSNP | Ensembl ].
VAR_068515
Natural varianti2421 – 24211A → P in CCD; autosomal recessive form. 1 Publication
VAR_045724
Natural varianti2423 – 24231M → K in MMDO and CCD; autosomal recessive form. 2 Publications
VAR_032915
Natural varianti2435 – 24351R → H in CCD and MHS1. 3 Publications
Corresponds to variant rs28933396 [ dbSNP | Ensembl ].
VAR_005606
Natural varianti2454 – 24541R → H in CCD and MHS1; severe form; induces an increase sensitivity to caffeine. 7 Publications
VAR_008976
Natural varianti2508 – 25081R → G in CCD. 1 Publication
VAR_068516
Natural varianti3366 – 33661R → H in CCD. 1 Publication
Corresponds to variant rs137932199 [ dbSNP | Ensembl ].
VAR_068517
Natural varianti3527 – 35271P → S in CCD; autosomal recessive form. 1 Publication
VAR_045732
Natural varianti3539 – 35391R → H in CCD; autosomal recessive form. 1 Publication
Corresponds to variant rs143987857 [ dbSNP | Ensembl ].
VAR_045733
Natural varianti3772 – 37721R → Q in CCD; autosomal recessive form. 1 Publication
VAR_045734
Natural varianti3933 – 39331Y → C in CCD. 1 Publication
Corresponds to variant rs147136339 [ dbSNP | Ensembl ].
VAR_068518
Natural varianti4214 – 42163Missing in CCD.
VAR_045737
Natural varianti4558 – 45581R → Q in CCD; autosomal recessive form. 2 Publications
VAR_045739
Natural varianti4637 – 46371T → A in CCD. 1 Publication
VAR_045740
Natural varianti4638 – 46381G → D in CCD. 2 Publications
VAR_045742
Natural varianti4647 – 46482Missing in CCD.
VAR_045743
Natural varianti4650 – 46501L → P in CCD; autosomal recessive form. 1 Publication
VAR_045744
Natural varianti4651 – 46511H → P in CCD. 1 Publication
VAR_045745
Natural varianti4724 – 47241K → Q in CCD; autosomal recessive form. 1 Publication
VAR_045748
Natural varianti4743 – 47431G → D in CCD. 1 Publication
VAR_068520
Natural varianti4793 – 47931L → P in CCD. 1 Publication
VAR_045751
Natural varianti4796 – 47961Y → C in CCD. 1 Publication
VAR_045752
Natural varianti4814 – 48141L → F in CCD. 1 Publication
VAR_045753
Natural varianti4825 – 48251R → C in CCD. 1 Publication
VAR_045755
Natural varianti4842 – 48421V → M in CCD; autosomal recessive form. 1 Publication
VAR_045758
Natural varianti4846 – 48461A → V in CCD; autosomal recessive form. 2 Publications
VAR_045759
Natural varianti4849 – 48491V → I in MHS1 and CCD; autosomal recessive form. 4 Publications
VAR_045760
Natural varianti4860 – 48601Missing in CCD. 1 Publication
VAR_045761
Natural varianti4861 – 48611R → C in CCD. 2 Publications
VAR_045762
Natural varianti4861 – 48611R → H in CCD; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene. 6 Publications
VAR_045763
Natural varianti4863 – 48697FYNKSED → Y in CCD.
VAR_045764
Natural varianti4864 – 48641Y → C in CCD. 1 Publication
VAR_045765
Natural varianti4882 – 48821T → M in CCD. 1 Publication
VAR_068521
Natural varianti4891 – 48911G → R in CCD. 1 Publication
VAR_045767
Natural varianti4893 – 48931R → Q in CCD. 1 Publication
VAR_045768
Natural varianti4893 – 48931R → W in CCD; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene. 3 Publications
VAR_045769
Natural varianti4897 – 48971G → V in CCD. 1 Publication
VAR_045770
Natural varianti4898 – 48981I → T in CCD; severe phenotype; also present in some patients with MHS1; no response to the agonists halothane and caffeine. 4 Publications
VAR_045771
Natural varianti4899 – 48991G → E in CCD. 2 Publications
VAR_045772
Natural varianti4899 – 48991G → R in CCD; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene. 1 Publication
VAR_045773
Natural varianti4906 – 49061A → V in CCD. 1 Publication
VAR_045774
Natural varianti4914 – 49141R → G in CCD. 2 Publications
VAR_045775
Natural varianti4914 – 49141R → T in CCD. 2 Publications
VAR_045776
Natural varianti4927 – 49282Missing in CCD.
VAR_045777
Natural varianti4938 – 49381I → M in CCD. 1 Publication
VAR_045778
Natural varianti4940 – 49401A → T in CCD. 2 Publications
VAR_045780
Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]: Clinically heterogeneous neuromuscular disorder. General features include neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable. Muscle biopsy shows multiple, poorly circumscribed, short areas of sarcomere disorganization and mitochondria depletion (areas termed minicores) in most muscle fibers. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present in multiminicore disease.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti109 – 1091R → W in MMDO. 1 Publication
VAR_032910
Natural varianti2423 – 24231M → K in MMDO and CCD; autosomal recessive form. 2 Publications
VAR_032915
Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti402 – 4021M → T in CFTD. 1 Publication
VAR_063846
Natural varianti2035 – 20351H → L in CFTD. 1 Publication
VAR_063847
Natural varianti3326 – 33261N → K in CFTD. 1 Publication
VAR_063848
Natural varianti3402 – 34021C → G in CFTD. 1 Publication
VAR_063849
Defects in RYR1 may be a cause of Samaritan myopathy, a congenital myopathy with benign course. Patients display severe hypotonia and respiratory distress at birth. Unlike other congenital myopathies, the health status constantly improves and patients are minimally affected at adulthood.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi117000. phenotype.
145600. phenotype.
255310. phenotype.
255320. phenotype.
Orphaneti169189. Autosomal dominant centronuclear myopathy.
324581. Benign Samaritan congenital myopathy.
597. Central core disease.
98905. Congenital multicore myopathy with external ophthalmoplegia.
99741. King-Denborough syndrome.
423. Malignant hyperthermia.
178145. Moderate multiminicore disease with hand involvement.
PharmGKBiPA34896.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 50385038Ryanodine receptor 1
PRO_0000219358Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2843 – 28431Phosphoserine; by PKA and PKG By similarity
Modified residuei3635 – 36351S-nitrosocysteine1 Publication
Modified residuei4864 – 48641Phosphotyrosine1 Publication
Modified residuei4867 – 48671Phosphoserine1 Publication

Post-translational modificationi

Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2843 may increase channel activity. Repeated very high-level exercise increases phosphorylation at Ser-2843.
Activated by reversible S-nitrosylation. Repeated very high-level exercise increases S-nitrosylation.

Keywords - PTMi

Phosphoprotein, S-nitrosylation

Proteomic databases

PaxDbiP21817.
PRIDEiP21817.

PTM databases

PhosphoSiteiP21817.

Expressioni

Tissue specificityi

Skeletal muscle and brain (cerebellum and hippocampus).1 Publication

Gene expression databases

ArrayExpressiP21817.
BgeeiP21817.
CleanExiHS_RYR1.
GenevestigatoriP21817.

Organism-specific databases

HPAiHPA056416.

Interactioni

Subunit structurei

Homotetramer. Can also form heterotetramers with RYR2. Interacts with CALM; CALM with bound calcium inhibits the RYR1 channel activity. Interacts with S100A1. Interacts with FKBP1A; this stabilizes the closed conformation of the channel. Interacts with CACNA1S; interaction with CACNA1S is important for activation of the RYR1 channel. Interacts with CACNB1. Interacts with TRDN and ASPH; these interactions stimulate RYR1 channel activity By similarity. Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1 (PP1). Repeated very high-level exercise decreases interaction with PDE4D and protein phosphatase 1 (PP1).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MYOM2P542962EBI-1221290,EBI-5357134

Protein-protein interaction databases

BioGridi112173. 8 interactions.
DIPiDIP-29708N.
IntActiP21817. 10 interactions.
MINTiMINT-1605046.
STRINGi9606.ENSP00000352608.

Structurei

3D structure databases

ProteinModelPortaliP21817.
SMRiP21817. Positions 11-533, 849-1056, 2734-2940, 3614-3640, 4074-4131.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini97 – 15256MIR 1
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BLAST
Domaini159 – 20446MIR 2
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BLAST
Domaini210 – 26455MIR 3
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BLAST
Domaini270 – 32758MIR 4
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BLAST
Domaini335 – 39258MIR 5
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BLAST
Domaini581 – 797217B30.2/SPRY 1
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BLAST