Ryr1 ryanodine receptor 1, skeletal muscle [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ryr1provided by MGI
Official Full Name: ryanodine receptor 1, skeletal muscleprovided by MGI
Primary source: MGI:MGI:99659
See related: Ensembl:ENSMUSG00000030592 AllianceGenome:MGI:99659
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ryr; skrr; RYR-1
Summary: Enables protease binding activity; ryanodine-sensitive calcium-release channel activity; and voltage-gated calcium channel activity. Involved in animal organ development; cellular response to caffeine; and release of sequestered calcium ion into cytosol by sarcoplasmic reticulum. Acts upstream of or within muscle contraction and release of sequestered calcium ion into cytosol. Located in T-tubule; sarcoplasmic reticulum membrane; and smooth endoplasmic reticulum. Part of junctional membrane complex. Is expressed in several structures, including brain; embryo mesenchyme; endocrine gland; heart; and skeletal musculature. Used to study central core disease and malignant hyperthermia. Human ortholog(s) of this gene implicated in central core disease; malignant hyperthermia; and multiminicore disease. Orthologous to human RYR1 (ryanodine receptor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in mammary gland adult (RPKM 14.4), limb E14.5 (RPKM 5.1) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B1; 7 16.94 cM

Exon count:: 108

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (28702765..28824599, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (29003340..29125179, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
Title: A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
Muscle fibre mitochondrial [Ca[2+] ] dynamics during Ca[2+] waves in RYR1 gain-of-function mouse.
Title: Muscle fibre mitochondrial [Ca(2+) ] dynamics during Ca(2+) waves in RYR1 gain-of-function mouse.
The RyR1 P3528S Substitution Alters Mouse Skeletal Muscle Contractile Properties and RyR1 Ion Channel Gating.
Title: The RyR1 P3528S Substitution Alters Mouse Skeletal Muscle Contractile Properties and RyR1 Ion Channel Gating.
Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.
Title: Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.
Senolytics prevent caveolar CaV 3.2-RyR axis malfunction in old vascular smooth muscle.
Title: Senolytics prevent caveolar Ca(V) 3.2-RyR axis malfunction in old vascular smooth muscle.
ER stress increases expression of intracellular calcium channel RyR1 to modify Ca[2+] homeostasis in pancreatic beta cells.
Title: ER stress increases expression of intracellular calcium channel RyR1 to modify Ca(2+) homeostasis in pancreatic beta cells.
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.
Title: Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.
Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes.
Title: Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes.
Ca(2+) leak through ryanodine receptor 1 regulates thermogenesis in resting skeletal muscle.
Title: Ca(2+) leak through ryanodine receptor 1 regulates thermogenesis in resting skeletal muscle.
Acute RyR1 Ca(2+) leak enhances NADH-linked mitochondrial respiratory capacity.
Title: Acute RyR1 Ca(2+) leak enhances NADH-linked mitochondrial respiratory capacity.

Submit: New GeneRIF Correction See all GeneRIFs (117)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (15) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ryr1 (e-PCR), detects polymorphism
- UniSTS:274197

Ryr1 (e-PCR), detects polymorphism
- UniSTS:274198

AI528790 (e-PCR)
- UniSTS:185702

AW534727 (e-PCR)
- UniSTS:260812

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium-induced calcium release activity	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ryanodine-sensitive calcium-release channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ryanodine-sensitive calcium-release channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ryanodine-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in cellular response to ATP	ISO Inferred from Sequence Orthology more info
involved_in cellular response to caffeine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to caffeine	ISO Inferred from Sequence Orthology more info
involved_in intracellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within muscle contraction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in ossification involved in bone maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in regulation of response to osmotic stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of sequestered calcium ion into cytosol	ISO Inferred from Sequence Orthology more info
involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
involved_in response to caffeine	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	ISO Inferred from Sequence Orthology more info
involved_in sarcoplasmic reticulum calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in striated muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in I band	ISO Inferred from Sequence Orthology more info
located_in T-tubule	IDA Inferred from Direct Assay more info	PubMed
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
part_of calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell cortex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in extrinsic component of cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
part_of junctional membrane complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in sarcomere	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in sarcoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
is_active_in smooth endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in smooth endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in terminal cisterna	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ryanodine receptor 1

Names: calcium release channel; 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_009109.2 → NP_033135.2 ryanodine receptor 1

See identical proteins and their annotated locations for NP_033135.2

Status: VALIDATED

Source sequence(s)

AC164564, AC165142

Consensus CDS

CCDS39866.1

UniProtKB/Swiss-Prot

E9PZQ0, Q60834, Q61779, Q61780, Q62173, Q62196, Q62235, Q78EJ6, Q7TNG1, Q80UQ5, Q80X16, Q99JF9

UniProtKB/TrEMBL

K3W4M2

Related

ENSMUSP00000137123.2, ENSMUST00000179893.9

Conserved Domains (12) summary

smart00472
Location:212 → 265

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:644 → 795

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

cd12878
Location:1074 → 1206

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

pfam00520
Location:4762 → 4946

Ion_trans; Ion transport protein

pfam01365
Location:445 → 633

RYDR_ITPR; RIH domain

pfam02026
Location:852 → 942

RyR; RyR domain

pfam02815
Location:213 → 391

MIR; MIR domain

pfam06459
Location:4380 → 4668

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3883 → 3996

RIH_assoc; RyR and IP3R Homology associated

pfam13833
Location:4087 → 4137

EF-hand_8; EF-hand domain pair

cd12879
Location:1420 → 1568

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

cl19745
Location:12 → 205

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

28702765..28824599 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152819.1 → XP_036008712.1 ryanodine receptor 1 isoform X7

UniProtKB/TrEMBL

K3W4M2

Conserved Domains (10) summary

cd12877
Location:644 → 795

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

cd12878
Location:1074 → 1206

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

cd12879
Location:1420 → 1568

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

pfam00520
Location:4751 → 4935

Ion_trans; Ion transport protein

pfam01365
Location:445 → 638

RYDR_ITPR; RIH domain

pfam02026
Location:852 → 942

RyR; RyR domain

pfam02815
Location:213 → 391

MIR; MIR domain

pfam06459
Location:4369 → 4657

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3869 → 3985

RIH_assoc; RyR and IP3R Homology associated

cl19745
Location:12 → 211

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_036152817.1 → XP_036008710.1 ryanodine receptor 1 isoform X4

UniProtKB/TrEMBL

A0A1L1SQG7

Conserved Domains (10) summary

cd12877
Location:644 → 795

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

cd12878
Location:1074 → 1206

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

cd12879
Location:1420 → 1568

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

pfam00520
Location:4770 → 4954

Ion_trans; Ion transport protein

pfam01365
Location:445 → 638

RYDR_ITPR; RIH domain

pfam02026
Location:852 → 942

RyR; RyR domain

pfam02815
Location:213 → 391

MIR; MIR domain

pfam06459
Location:4388 → 4676

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3869 → 3985

RIH_assoc; RyR and IP3R Homology associated

cl19745
Location:12 → 211

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_006539689.4 → XP_006539752.1 ryanodine receptor 1 isoform X5

UniProtKB/TrEMBL

K3W4M2

Conserved Domains (11) summary

cd12877
Location:644 → 795

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

cd12878
Location:1074 → 1206

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

cd12879
Location:1420 → 1568

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

pfam00520
Location:4757 → 4941

Ion_trans; Ion transport protein

pfam01365
Location:443 → 638

RYDR_ITPR; RIH domain

pfam02026
Location:852 → 942

RyR; RyR domain

pfam02815
Location:213 → 391

MIR; MIR domain

pfam06459
Location:4375 → 4663

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3878 → 3991

RIH_assoc; RyR and IP3R Homology associated

pfam13833
Location:4082 → 4132

EF-hand_8; EF-hand domain pair

cl19745
Location:12 → 205

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_036152815.1 → XP_036008708.1 ryanodine receptor 1 isoform X2

UniProtKB/TrEMBL

A0A1L1SQG7

Conserved Domains (10) summary

cd12877
Location:644 → 795

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

cd12878
Location:1074 → 1206

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

cd12879
Location:1420 → 1568

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

pfam00520
Location:4776 → 4960

Ion_trans; Ion transport protein

pfam01365
Location:445 → 638

RYDR_ITPR; RIH domain

pfam02026
Location:852 → 942

RyR; RyR domain

pfam02815
Location:213 → 391

MIR; MIR domain

pfam06459
Location:4394 → 4682

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3875 → 3991

RIH_assoc; RyR and IP3R Homology associated

cl19745
Location:12 → 211

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_036152818.1 → XP_036008711.1 ryanodine receptor 1 isoform X6

UniProtKB/TrEMBL

K3W4M2

Conserved Domains (10) summary

cd12877
Location:644 → 795

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

cd12878
Location:1074 → 1206

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

cd12879
Location:1420 → 1568

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

pfam00520
Location:4756 → 4940

Ion_trans; Ion transport protein

pfam01365
Location:445 → 638

RYDR_ITPR; RIH domain

pfam02026
Location:852 → 942

RyR; RyR domain

pfam02815
Location:213 → 391

MIR; MIR domain

pfam06459
Location:4374 → 4662

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3874 → 3990

RIH_assoc; RyR and IP3R Homology associated

cl19745
Location:12 → 211

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_036152816.1 → XP_036008709.1 ryanodine receptor 1 isoform X3

UniProtKB/TrEMBL

A0A1L1SQG7

Conserved Domains (10) summary

cd12877
Location:644 → 795

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

cd12878
Location:1074 → 1206

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

cd12879
Location:1420 → 1568

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

pfam00520
Location:4775 → 4959

Ion_trans; Ion transport protein

pfam01365
Location:445 → 638

RYDR_ITPR; RIH domain

pfam02026
Location:852 → 942

RyR; RyR domain

pfam02815
Location:213 → 391

MIR; MIR domain

pfam06459
Location:4393 → 4681

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3874 → 3990

RIH_assoc; RyR and IP3R Homology associated

cl19745
Location:12 → 211

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_036152814.1 → XP_036008707.1 ryanodine receptor 1 isoform X1

UniProtKB/TrEMBL

A0A1L1SQG7

Related

ENSMUSP00000149042.2, ENSMUST00000214374.2

Conserved Domains (10) summary

cd12877
Location:644 → 795

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

cd12878
Location:1074 → 1206

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

cd12879
Location:1420 → 1568

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

pfam00520
Location:4781 → 4965

Ion_trans; Ion transport protein

pfam01365
Location:445 → 638

RYDR_ITPR; RIH domain

pfam02026
Location:852 → 942

RyR; RyR domain

pfam02815
Location:213 → 391

MIR; MIR domain

pfam06459
Location:4399 → 4687

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3880 → 3996

RIH_assoc; RyR and IP3R Homology associated

cl19745
Location:12 → 211

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