Functions and Diseases

RBP Type Canonical_RBPs
Diseases N.A.
Drug Drug
Main interacting RNAs N.A.
Moonlighting functions N.A.
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000196218 Gene ID 6261 Accession 10483
Symbol RYR1 Alias CCO;KDS;MHS;RYR;MHS1;RYDR;SKRR;RYR-1;CMYP1A;CMYP1B;PPP1R137 Full Name ryanodine receptor 1
Status Confidence Length 161583 bases Strand Plus strand
Position 19 : 38433691 - 38595273 RNA binding domain SPRY
Summary This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000471601 SPRY PF00622 1e-66 1
ENSP00000471601 SPRY PF00622 1e-66 2
ENSP00000471601 SPRY PF00622 1e-66 3
ENSP00000347667 SPRY PF00622 5.1e-66 1
ENSP00000347667 SPRY PF00622 5.1e-66 2
ENSP00000347667 SPRY PF00622 5.1e-66 3
ENSP00000352608 SPRY PF00622 5.2e-66 1
ENSP00000352608 SPRY PF00622 5.2e-66 2
ENSP00000352608 SPRY PF00622 5.2e-66 3

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
RYR1-202 ENST00000359596 15400 5038aa ENSP00000352608
RYR1-201 ENST00000355481 15377 5033aa ENSP00000347667
RYR1-208 ENST00000599547 11455 3059aa ENSP00000471601
RYR1-205 ENST00000594111 548 No protein -
RYR1-206 ENST00000594335 6263 886aa ENSP00000470927
RYR1-209 ENST00000600337 421 No protein -
RYR1-210 ENST00000601514 863 No protein -
RYR1-207 ENST00000596431 515 No protein -
RYR1-203 ENST00000593322 843 79aa ENSP00000471404
RYR1-211 ENST00000688602 3593 692aa ENSP00000510767
RYR1-212 ENST00000689936 3422 1140aa ENSP00000508999
RYR1-204 ENST00000593677 2227 658aa ENSP00000472126
RYR1-213 ENST00000692547 654 No protein -

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
84096Asthma5E-625918132
84097Toluene 2,4-Diisocyanate5E-625918132

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0001666involved_in response to hypoxia1IDAHomo_sapiens(9606)Process
GO:0003151involved_in outflow tract morphogenesis1ISSHomo_sapiens(9606)Process
GO:0005219enables ryanodine-sensitive calcium-release channel activity5IBA,IDA,IMP,ISS,TASHomo_sapiens(9606)Function
GO:0005245enables voltage-gated calcium channel activity1ISSHomo_sapiens(9606)Function
GO:0005262enables calcium channel activity1ISSHomo_sapiens(9606)Function
GO:0005509enables calcium ion binding1ISSHomo_sapiens(9606)Function
GO:0005516enables calmodulin binding1ISSHomo_sapiens(9606)Function
GO:0005524enables ATP binding1ISSHomo_sapiens(9606)Function
GO:0005737located_in cytoplasm1IDAHomo_sapiens(9606)Component
GO:0005790is_active_in smooth endoplasmic reticulum1IBAHomo_sapiens(9606)Component
GO:0005886located_in plasma membrane1IDAHomo_sapiens(9606)Component
GO:0005938located_in cell cortex1IDAHomo_sapiens(9606)Component
GO:0006816involved_in calcium ion transport1ISSHomo_sapiens(9606)Process
GO:0006936involved_in muscle contraction1ISSHomo_sapiens(9606)Process
GO:0006941involved_in striated muscle contraction1IBAHomo_sapiens(9606)Process
GO:0014701located_in junctional sarcoplasmic reticulum membrane1TASHomo_sapiens(9606)Component
GO:0014802located_in terminal cisterna1ISSHomo_sapiens(9606)Component
GO:0014808involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum2IBA,ISSHomo_sapiens(9606)Process
GO:0015278enables calcium-release channel activity1TASHomo_sapiens(9606)Function
GO:0016529located_in sarcoplasmic reticulum1ISSHomo_sapiens(9606)Component
GO:0030018is_active_in Z disc1IBAHomo_sapiens(9606)Component
GO:0031000involved_in response to caffeine1ISSHomo_sapiens(9606)Process
GO:0031090located_in organelle membrane1ISSHomo_sapiens(9606)Component
GO:0031674located_in I band1IDAHomo_sapiens(9606)Component
GO:0033017is_active_in sarcoplasmic reticulum membrane4IBA,IDA,ISS,TASHomo_sapiens(9606)Component
GO:0034704part_of calcium channel complex1IBAHomo_sapiens(9606)Component
GO:0042383is_active_in sarcolemma1IBAHomo_sapiens(9606)Component
GO:0043588involved_in skin development1ISSHomo_sapiens(9606)Process
GO:0043931involved_in ossification involved in bone maturation1ISSHomo_sapiens(9606)Process
GO:0048741involved_in skeletal muscle fiber development1ISSHomo_sapiens(9606)Process
GO:0048763enables calcium-induced calcium release activity2IBA,IMPHomo_sapiens(9606)Function
GO:0051209involved_in release of sequestered calcium ion into cytosol2IMP,ISSHomo_sapiens(9606)Process
GO:0051289involved_in protein homotetramerization1ISSHomo_sapiens(9606)Process
GO:0051480involved_in regulation of cytosolic calcium ion concentration1ISSHomo_sapiens(9606)Process
GO:0070062located_in extracellular exosome1HDAHomo_sapiens(9606)Component
GO:0071277involved_in cellular response to calcium ion1ISSHomo_sapiens(9606)Process
GO:0071313involved_in cellular response to caffeine2IMP,ISSHomo_sapiens(9606)Process
GO:1990425part_of ryanodine receptor complex1ISSHomo_sapiens(9606)Component

Expression