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P21817

- RYR1_HUMAN

UniProt

P21817 - RYR1_HUMAN

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Protein

Ryanodine receptor 1

Gene

RYR1

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).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. ryanodine-sensitive calcium-release channel activity Source: UniProtKB
  6. 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 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
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).38 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 varianti40 – 401G → A in MHS1; unknown pathological significance. 1 Publication
VAR_071721
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. 8 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. 5 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. 5 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 varianti487 – 4871L → P in MHS1; unknown pathological significance. 1 Publication
VAR_071722
Natural varianti518 – 5181V → A in MHS1; unknown pathological significance. 1 Publication
VAR_071723
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. 10 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 varianti1043 – 10431R → H in MHS1; unknown pathological significance. 1 Publication
VAR_071727
Natural varianti1056 – 10561D → H in MHS1. 1 Publication
VAR_071728
Natural varianti1056 – 10561D → N in MHS1. 1 Publication
VAR_071729
Natural varianti1058 – 10581E → K in MHS1. 1 Publication
VAR_068511
Natural varianti1127 – 11271R → H in MHS1. 1 Publication
VAR_071731
Natural varianti1352 – 13521A → G in MHS1. 1 Publication
Corresponds to variant rs112105381 [ dbSNP | Ensembl ].
VAR_058566
Natural varianti1393 – 13931K → R in may be associated with susceptibility to malignant hyperthermia and MHS1. 2 Publications
Corresponds to variant rs137933390 [ dbSNP | Ensembl ].
VAR_068513
Natural varianti1467 – 14671K → R in MHS1. 1 Publication
VAR_071732
Natural varianti1571 – 15711I → V in MHS1. 1 Publication
VAR_071733
Natural varianti1787 – 17871P → L in MHS1. 4 Publications
Corresponds to variant rs34934920 [ dbSNP | Ensembl ].
VAR_005599
Natural varianti2013 – 20131K → Q in MHS1. 1 Publication
VAR_071734
Natural varianti2060 – 20601G → C in MHS1. 6 Publications
Corresponds to variant rs35364374 [ dbSNP | Ensembl ].
VAR_005600
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. 4 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. 7 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 varianti2248 – 22481R → H in MHS1; unknown pathological significance. 1 Publication
VAR_071736
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 varianti2351 – 23511N → H in MHS1; unknown pathological significance. 1 Publication
VAR_071738
Natural varianti2354 – 23541V → M in MHS1; unknown pathological significance. 1 Publication
VAR_071739
Natural varianti2355 – 23551R → C in MHS1. 1 Publication
VAR_045722
Natural varianti2358 – 23581I → L in MHS1; unknown pathological significance. 1 Publication
VAR_071740
Natural varianti2367 – 23671A → T in MHS1. 2 Publications
VAR_045723
Natural varianti2383 – 23831A → Q in MHS1; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication
VAR_071741
Natural varianti2400 – 24001D → G in MHS1. 1 Publication
VAR_071742
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. 8 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. 8 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 varianti2593 – 25931R → G in MHS1. 1 Publication
VAR_071743
Natural varianti2627 – 26271V → M in MHS1. 1 Publication
VAR_071744
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 varianti3410 – 34101P → Q in MHS1. 1 Publication
VAR_071748
Natural varianti3501 – 35011D → Y in MHS1. 1 Publication
VAR_071749
Natural varianti3711 – 37111T → R in MHS1; unknown pathological significance. 1 Publication
VAR_071750
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 varianti3933 – 39331Y → C in CCD and MHS1. 2 Publications
Corresponds to variant rs147136339 [ dbSNP | Ensembl ].
VAR_068518
Natural varianti4136 – 41361R → S in MHS1. 1 Publication
VAR_045736
Natural varianti4178 – 41781G → V in MHS1; unknown pathological significance. 1 Publication
VAR_071751
Natural varianti4230 – 42301M → R in MHS1; unknown pathological significance. 1 Publication
VAR_071752
Natural varianti4234 – 42341V → L in MHS1. 2 Publications
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 varianti4837 – 48371Q → E in MHS1; unknown pathological significance. 1 Publication
VAR_071753
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 varianti4861 – 48611R → H in CCD and MHS1; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR. 8 Publications
VAR_045763
Natural varianti4876 – 48761K → R in MHS1. 2 Publications
VAR_045766
Natural varianti4906 – 49061A → G in MHS1; unknown pathological significance. 1 Publication
VAR_071755
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.24 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. 8 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. 10 Publications
Corresponds to variant rs28933996 [ dbSNP | Ensembl ].
VAR_005597
Natural varianti975 – 9751R → W in CCD; unknown pathological significance. 1 Publication
VAR_071726
Natural varianti1704 – 17041G → S in CCD; autosomal recessive form. 1 Publication
VAR_045709
Natural varianti2163 – 21631R → H in CCD and MHS1. 4 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. 8 Publications
VAR_008976
Natural varianti2508 – 25081R → G in CCD. 1 Publication
VAR_068516
Natural varianti3238 – 32381E → G in CCD; unknown pathological significance. 1 Publication
VAR_071746
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 and MHS1. 2 Publications
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. 1 Publication
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