RYR1 ryanodine receptor 1 [Oryctolagus cuniculus (rabbit)] - Gene

Summary

Gene symbol: RYR1
Gene description: ryanodine receptor 1
See related: Ensembl:ENSOCUG00000023161
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Oryctolagus cuniculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae; Oryctolagus
Also known as: RYR-1
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 5

Exon count:: 106

Annotation release	Status	Assembly	Chr	Location
RS_2023_02	current	UM_NZW_1.0 (GCF_009806435.1)	5	NC_067378.1 (2492005..2599232)

Chromosome 5 - NC_067378.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_067378.1 Chromosome 5 Reference UM_NZW_1.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structure of RyR1 in native membranes.
Title: Structure of RyR1 in native membranes.
Homer1 regulates RyR1 by direct interaction.
Title: Interaction of the Homer1 EVH1 domain and skeletal muscle ryanodine receptor.
Ryr1 RyR1-Q3970K formed caffeine-sensitive, Ca2+-conducting channel in HEK293 cells, but displayed low Ca2+-dependent channel activity and reduced activation by caffeine or ATP. RyR1-Q3970E, associated with arrhythmogenic syndrome in cardiac muscle, formed caffeine-induced Ca2+ release in HEK293 cells and exhibited low activity in the presence Ca2+ but, in contrast to RyR1-Q3970K, was activated by ATP and caffeine.
Title: A central core disease mutation in the Ca(2+)-binding site of skeletal muscle ryanodine receptor impairs single-channel regulation.
In-depth structural analyses elucidated a novel channel-gating mechanism and a novel ion selectivity mechanism of RyR1.
Title: Structural insights into Ca(2+)-activated long-range allosteric channel gating of RyR1.
the cryo-electron microscopy structures of rabbit RyR1 in three closed conformations at about 4 A resolution and an open state at 5.7 A, are reported.
Title: The Central domain of RyR1 is the transducer for long-range allosteric gating of channel opening.
Data suggest that RyR1 exhibits conformation consistent with an open-channel model sufficient for movement of Ca2+ except for a pore constriction site; molecular dynamics simulations suggest Ca2+ passage could be allowed by rotation of upper portion of pore-lining S6 helix away from 4-fold channel axis and twisting of Ile-4937 at channel constriction site out of the channel pore.
Title: Ion-pulling simulations provide insights into the mechanisms of channel opening of the skeletal muscle ryanodine receptor.
Data suggest that reduced SOICR (store overload-induced Ca2+ release) threshold is a common defect of malignant hyperthermia- or central core disease-associated RyR1 mutations; carvedilol (a beta-blocker), like dantrolene (a central muscle relaxant), can suppress RyR1-mediated SOICR. Here, human disease-associated point mutations were induced in recombinant rabbit RyR1 via site-directed mutagenesis.
Title: Reduced threshold for store overload-induced Ca(2+) release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
RyR1-G4934A had reduced K(+) conductance and ion selectivity compared with WT. Mutations further increasing the side chain volume at these positions (G4934V and G4941I) resulted in reduced caffeine-induced Ca(2+) release.
Title: Channel Gating Dependence on Pore Lining Helix Glycine Residues in Skeletal Muscle Ryanodine Receptor.
Structural insights into the roles of divergent regions in RyR1 allosteric regulation during excitation contraction coupling.
Title: Structural mapping of divergent regions in the type 1 ryanodine receptor using fluorescence resonance energy transfer.
closed-state structure of the 2.3-megadalton complex of the rabbit skeletal muscle type 1 RyR (RyR1), solved by single-particle electron cryomicroscopy at an overall resolution of 4.8 A
Title: Structure of a mammalian ryanodine receptor.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RYR1 (e-PCR)
- UniSTS:253019

PMC22438P1 (e-PCR)
- UniSTS:272107

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables protein binding	IEA Inferred from Electronic Annotation more info	PubMed
enables ryanodine-sensitive calcium-release channel activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info	PubMed
involved_in intracellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info	PubMed
part_of calcium channel complex	IEA Inferred from Electronic Annotation more info	PubMed
located_in sarcolemma	IEA Inferred from Electronic Annotation more info	PubMed
located_in sarcoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info	PubMed
located_in smooth endoplasmic reticulum	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: ryanodine receptor 1

Names: ryanodine receptor 1 (skeletal); skeletal muscle calcium release channel; skeletal muscle ryanodine receptor; skeletal muscle-type ryanodine receptor; type 1 ryanodine receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001101718.1 → NP_001095188.1 ryanodine receptor 1

See identical proteins and their annotated locations for NP_001095188.1

Status: PROVISIONAL

Source sequence(s)

X15209

UniProtKB/Swiss-Prot

P11716

UniProtKB/TrEMBL

G1U7D3

Related

ENSOCUP00000025335.2, ENSOCUT00000031172.3

Conserved Domains (11) summary

cd12877
Location:643 → 794

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1073 → 1205

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

cd12879
Location:1419 → 1567

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

pfam00520
Location:4764 → 4948

Ion_trans; Ion transport protein

pfam01365
Location:444 → 637

RYDR_ITPR; RIH domain

pfam02026
Location:851 → 941

RyR; RyR domain

pfam02815
Location:212 → 390

MIR; MIR domain

pfam06459
Location:4382 → 4670

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3877 → 3993

RIH_assoc; RyR and IP3R Homology associated

pfam13499
Location:4075 → 4133

EF-hand_7; EF-hand domain pair

cl19745
Location:9 → 210

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor