RyR1 / TRP channels
Name: Ryanodine receptor 1
(RyR1)
Official Symbol: RYR1
provided by HGNC
Function:
Calcium channel that mediates the release of Ca(2+) 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 Ca(2+) leaking into the cytoplasm. Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) 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).
Source: Reorganizing the protein space at the Universal Protein Resource (UniProt)
Nucleic Acids Res. 40: D71-D75 (2012).
Species | External DB | |||||||||
---|---|---|---|---|---|---|---|---|---|---|
Entrez Gene | UniprotKB | DIP | IntAct | MINT | BioGRID | STRING | IUPHAR-DB | KEGG | OMIM | |
Human
|
6261 | P21817 | DIP-29708N | P21817 | MINT-1605046 | 112173 | P21817 | hsa:6261 | 180901 | |
Mouse
|
20190 | Q80X16 | DIP-29705N | Q80X16 | 203045 | Q80X16 | mmu:20190 | |||
Rat
|
114207 | F1LMY4 | MINT-195292 | 250309 | rno:114207 |
Biological Process:
- GO:0071313 : cellular response to caffeine
- GO:0006936 : muscle contraction
- GO:0043931 : ossification involved in bone maturation
- GO:0003151 : outflow tract morphogenesis
- GO:0014808 : release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
- GO:0001666 : response to hypoxia
- GO:0048741 : skeletal muscle fiber development
- GO:0043588 : skin development
Source: The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nat. Genet.. May 2000;25(1):25-9.
World Wide Web URL: http://www.geneontology.org/
World Wide Web URL: http://www.geneontology.org/
Disease:
- OMIM:180901 : Malignant hyperthermia susceptibility 1 (OMIM:145600 )
- OMIM:180901 : Central core disease (OMIM:117000 )
- OMIM:180901 : Minicore myopathy with external ophthalmoplegia (OMIM:255320 )
- OMIM:180901 : Neuromuscular disease, congenital, with uniform type 1 fiber (OMIM:117000 )
Source: Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine,
Johns Hopkins University (Baltimore, MD), May, 2012.
World Wide Web URL: http://omim.org/
World Wide Web URL: http://omim.org/
Screening Validation: In vitro validation Validation: In vivo validation Characterization Functional consequence | top |
Screening | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
Experimental screening | Non-experimental screening | Reference | ||||||||
TRP channel construct | Interactor source | |||||||||
TRP channel | Interactor | Method | Species | Region | Species | Organ/tissue | Sample type | |||
TRPC1 | RyR1 | Affinity purification-mass spectrometry | Not used as a bait | Rabbit | Fast-twitch muscle | Triad vesicles | 18215135 | |||
TRPC5 | RyR1 | Affinity purification-mass spectrometry | Not used as a bait | Rabbit | Fast-twitch muscle | Triad vesicles | 18215135 | |||
TRPV1 | RyR1 | Affinity purification-mass spectrometry | Not used as a bait | Rabbit | Fast-twitch muscle | Triad vesicles | 18215135 | |||
TRPV6 | RyR1 | Affinity purification-mass spectrometry | Not used as a bait | Rabbit | Fast-twitch muscle | Triad vesicles | 18215135 |
(:
click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)
Screening Validation: In vitro validation Validation: In vivo validation Characterization Functional consequence | top |
Validation: In vivo validation | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
Assay with endogenous proteins | Assay with overexpressed proteins | Reference | ||||||||
Cell or tissue | Cell or tissue | TRP channel construct | Interactor construct | |||||||
TRP channel | Interactor | Method | Species | Region | Species | Region | ||||
TRPC1 | RyR1 | Co-immunoprecipitation | Mouse skeletal myotube lysates | 18215135 |
(:
click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)