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P21817

- RYR1_HUMAN

UniProt

P21817 - RYR1_HUMAN

Protein

Ryanodine receptor 1

Gene

RYR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 172 (01 Oct 2014)
      Sequence version 3 (13 Jun 2006)
      Previous versions | rss
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    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.By similarity

    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

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

    GO - Cellular componenti

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

    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).35 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 7 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.22 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 7 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. 2 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.

    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 1PRO_0000219358Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2843 – 28431Phosphoserine; by PKA and PKGBy similarity
    Modified residuei3635 – 36351S-nitrosocysteine2 Publications
    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-2843.2 Publications
    Activated by reversible S-nitrosylation. Repeated very high-level exercise increases S-nitrosylation.2 Publications

    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).By similarity2 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.