Ryanodine receptor

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== Disease ==
== Disease ==
Mutations in RyR are associated with skeletal muscle disorders and triggered cardiac arrhythmia<ref>PMID:23459219</ref><ref>PMID:10790202</ref>. The N-terminal of RYR was found to be the disease hot spot of the molecule<ref>PMID:21048710</ref>.
Mutations in RyR are associated with skeletal muscle disorders and triggered cardiac arrhythmia<ref>PMID:23459219</ref><ref>PMID:10790202</ref>. The N-terminal of RYR was found to be the disease hot spot of the molecule<ref>PMID:21048710</ref>.
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== 3D Structures of ryanodine receptor ==
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[[Ryanodine receptor 3D structures]]
</StructureSection>
</StructureSection>
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**[[2xoa]] – rRyR1 N terminal residues 1-559<br />
**[[2xoa]] – rRyR1 N terminal residues 1-559<br />
**[[4i0y]], [[4i1e]], [[4i2s]], [[4i37]], [[4i3n]], [[4i6i]], [[4i8m]] – rRyR1 N terminal residues 1-559 (mutant)<br />
**[[4i0y]], [[4i1e]], [[4i2s]], [[4i37]], [[4i3n]], [[4i6i]], [[4i8m]] – rRyR1 N terminal residues 1-559 (mutant)<br />
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**[[4i7i]] – rRyR1 N terminal residues 1-536 (mutant)<br />
**[[4i96]] – rRyR1 N terminal residues 217-536 <br />
**[[4i96]] – rRyR1 N terminal residues 217-536 <br />
**[[5c33]] – rRyR1 SPRY1 domain residues 650-844 <br />
**[[5c33]] – rRyR1 SPRY1 domain residues 650-844 <br />
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**[[6foo]] – rRyR1 + ATP – Cryo EM <br />
**[[6foo]] – rRyR1 + ATP – Cryo EM <br />
**[[3j8h]] – rRyR1 + FKBP12 – Cryo EM <br />
**[[3j8h]] – rRyR1 + FKBP12 – Cryo EM <br />
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**[[5y9v]] – RyR1 N terminal - diamondback moth <br />
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**[[5y9v]] – dmRyR1 N terminal - diamondback moth <br />
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**[[6j6o]], [[6j6p]] – dmRyR1 phosphorylation domain residues 2836-3050 (mutant) <br />
*Ryanodine receptor 2 (Cardiac Ca+2 release channel); domains - N terminal 1-547; SPRY2 1080-1253; phosphorylation 2699-2904
*Ryanodine receptor 2 (Cardiac Ca+2 release channel); domains - N terminal 1-547; SPRY2 1080-1253; phosphorylation 2699-2904

Revision as of 11:31, 31 December 2019

Rabbit ryanodine receptor 1 N-terminal (PDB code 2xoa)

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3D Structures of ryanodine receptor

Updated on 31-December-2019

References

  1. Fill M, Copello JA. Ryanodine receptor calcium release channels. Physiol Rev. 2002 Oct;82(4):893-922. PMID:12270947 doi:http://dx.doi.org/10.1152/physrev.00013.2002
  2. Sato K, Roesl C, Pollock N, Stowell KM. Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. Anesthesiology. 2013 Jul;119(1):111-8. doi: 10.1097/ALN.0b013e31828cebfe. PMID:23459219 doi:http://dx.doi.org/10.1097/ALN.0b013e31828cebfe
  3. McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat. 2000;15(5):410-7. PMID:10790202 doi:<410::AID-HUMU2>3.0.CO;2-D http://dx.doi.org/10.1002/(SICI)1098-1004(200005)15:5<410::AID-HUMU2>3.0.CO;2-D
  4. Tung CC, Lobo PA, Kimlicka L, Van Petegem F. The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule. Nature. 2010 Nov 3. PMID:21048710 doi:10.1038/nature09471

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Michal Harel

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