Gene Report
Basic Info
Approved Symbol |
RYR1
|
Previous Symbol |
MHS, MHS1, CCO |
Symbol Alias |
RYR |
Approved Name |
ryanodine receptor 1 (skeletal) |
Previous Name |
central core disease of muscle |
Location |
19q13.1 |
Position |
chr19:38924340-39078204, + |
External Links |
HGNC: 10483
Entrez Gene: 6261
Ensembl: ENSG00000196218
UCSC: uc002oit.2
|
No. of Studies |
0 (significant: 0; non-significant: 0; trend: 0) |
Source |
Mapped by PBA pathway |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 0)
Gene related other variant (count: 0)
Gene related regions (count: 0)
Gene related GO terms (count: 31)
Gene related KEGG pathways (count: 2)
ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
hsa04730 |
Long-term depression |
27 |
Cerebellar long-term depression (LTD), thought to be a molec......
Cerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and Purkinje cells (PCs) induced by the conjunctive activation of PFs and climbing fiber (CF). Multiple signal transduction pathways have been shown to be involved in this process. Activation of PFs terminating on spines in dendritic branchlets leads to glutamate release and activation of both AMPA and mGluRs. Activation of CFs, which make multiple synaptic contacts on proximal dendrites, also via AMPA receptors, opens voltage-gated calcium channels (VGCCs) and causes a generalized influx of calcium. These cellular signals, generated from two different synaptic origins, trigger a cascade of events culminating in a phosphorylation-dependent, long-term reduction in AMPA receptor sensitivity at the PF-PC synapse. This may take place either through receptor internalization and/or through receptor desensitization.
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|
hsa04020 |
Calcium signaling pathway |
63 |
Ca2+ that enters the cell from the outside is a principal so......
Ca2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this external source of signal Ca2+ by activating various entry channels with widely different properties. The voltage-operated channels (VOCs) are found in excitable cells and generate the rapid Ca2+ fluxes that control fast cellular processes. There are many other Ca2+-entry channels, such as the receptor-operated channels (ROCs), for example the NMDA (N-methyl-D-aspartate) receptors (NMDARs) that respond to glutamate. There also are second-messenger-operated channels (SMOCs) and store-operated channels (SOCs).
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|
Genes shared at least 5 GO terms with RYR1 (count: 10)
Genes shared at least 2 KEGG pathways with RYR1 (count: 9)
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