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

Gene ID: 20190, updated on 30-Nov-2021

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
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; AI528790
Expression
Biased expression in mammary gland adult (RPKM 14.4), limb E14.5 (RPKM 5.1) and 8 other tissues See more
Orthologs
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Genomic context

See Ryr1 in Genome Data Viewer
Location:
7 B1; 7 16.94 cM
Exon count:
108
Annotation release Status Assembly Chr Location
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (29788359..29910170, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 3, subunit K Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1 Neighboring gene predicted gene, 38979 Neighboring gene predicted gene, 26604 Neighboring gene microRNA 1963 Neighboring gene RAS guanyl releasing protein 4 Neighboring gene family with sequence similarity 98, member C Neighboring gene sprouty-related EVH1 domain containing 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium-induced calcium release activity IBA
Inferred from Biological aspect of Ancestor
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 ion channel activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding 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
PubMed 
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 calcium ion homeostasis IEA
Inferred from Electronic Annotation
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
 
acts_upstream_of_or_within ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in 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 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 release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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 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
PubMed 
part_of calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell cortex ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasmic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extrinsic component of cytoplasmic side of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
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 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in sarcolemma 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
PubMed 
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
PubMed 
located_in smooth endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in terminal cisterna ISO
Inferred from Sequence Orthology
more info
 

General protein information

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)

  1. NM_009109.2NP_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
    Related
    ENSMUSP00000137123.2, ENSMUST00000179893.9
    Conserved Domains (12) summary
    smart00472
    Location:212265
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    cd12877
    Location:644795
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10741206
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    pfam00520
    Location:47624946
    Ion_trans; Ion transport protein
    pfam01365
    Location:445633
    RYDR_ITPR; RIH domain
    pfam02026
    Location:852942
    RyR; RyR domain
    pfam02815
    Location:213391
    MIR; MIR domain
    pfam06459
    Location:43804668
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38833996
    RIH_assoc; RyR and IP3R Homology associated
    pfam13833
    Location:40874137
    EF-hand_8; EF-hand domain pair
    cd12879
    Location:14201568
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    cl19745
    Location:12205
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    28702765..28824599 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (10) summary
    cd12877
    Location:644795
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10741206
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    cd12879
    Location:14201568
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    pfam00520
    Location:47514935
    Ion_trans; Ion transport protein
    pfam01365
    Location:445638
    RYDR_ITPR; RIH domain
    pfam02026
    Location:852942
    RyR; RyR domain
    pfam02815
    Location:213391
    MIR; MIR domain
    pfam06459
    Location:43694657
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38693985
    RIH_assoc; RyR and IP3R Homology associated
    cl19745
    Location:12211
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  2. XM_036152817.1XP_036008710.1  ryanodine receptor 1 isoform X4

    Conserved Domains (10) summary
    cd12877
    Location:644795
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10741206
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    cd12879
    Location:14201568
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    pfam00520
    Location:47704954
    Ion_trans; Ion transport protein
    pfam01365
    Location:445638
    RYDR_ITPR; RIH domain
    pfam02026
    Location:852942
    RyR; RyR domain
    pfam02815
    Location:213391
    MIR; MIR domain
    pfam06459
    Location:43884676
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38693985
    RIH_assoc; RyR and IP3R Homology associated
    cl19745
    Location:12211
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  3. XM_006539689.4XP_006539752.1  ryanodine receptor 1 isoform X5

    Related
    ENSMUSP00000032813.10, ENSMUST00000032813.10
    Conserved Domains (11) summary
    cd12877
    Location:644795
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10741206
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    cd12879
    Location:14201568
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    pfam00520
    Location:47574941
    Ion_trans; Ion transport protein
    pfam01365
    Location:443638
    RYDR_ITPR; RIH domain
    pfam02026
    Location:852942
    RyR; RyR domain
    pfam02815
    Location:213391
    MIR; MIR domain
    pfam06459
    Location:43754663
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38783991
    RIH_assoc; RyR and IP3R Homology associated
    pfam13833
    Location:40824132
    EF-hand_8; EF-hand domain pair
    cl19745
    Location:12205
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  4. XM_036152815.1XP_036008708.1  ryanodine receptor 1 isoform X2

    Conserved Domains (10) summary
    cd12877
    Location:644795
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10741206
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    cd12879
    Location:14201568
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    pfam00520
    Location:47764960
    Ion_trans; Ion transport protein
    pfam01365
    Location:445638
    RYDR_ITPR; RIH domain
    pfam02026
    Location:852942
    RyR; RyR domain
    pfam02815
    Location:213391
    MIR; MIR domain
    pfam06459
    Location:43944682
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38753991
    RIH_assoc; RyR and IP3R Homology associated
    cl19745
    Location:12211
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  5. XM_036152818.1XP_036008711.1  ryanodine receptor 1 isoform X6

    Conserved Domains (10) summary
    cd12877
    Location:644795
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10741206
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    cd12879
    Location:14201568
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    pfam00520
    Location:47564940
    Ion_trans; Ion transport protein
    pfam01365
    Location:445638
    RYDR_ITPR; RIH domain
    pfam02026
    Location:852942
    RyR; RyR domain
    pfam02815
    Location:213391
    MIR; MIR domain
    pfam06459
    Location:43744662
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38743990
    RIH_assoc; RyR and IP3R Homology associated
    cl19745
    Location:12211
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  6. XM_036152816.1XP_036008709.1  ryanodine receptor 1 isoform X3

    Conserved Domains (10) summary
    cd12877
    Location:644795
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10741206
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    cd12879
    Location:14201568
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    pfam00520
    Location:47754959
    Ion_trans; Ion transport protein
    pfam01365
    Location:445638
    RYDR_ITPR; RIH domain
    pfam02026
    Location:852942
    RyR; RyR domain
    pfam02815
    Location:213391
    MIR; MIR domain
    pfam06459
    Location:43934681
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38743990
    RIH_assoc; RyR and IP3R Homology associated
    cl19745
    Location:12211
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  7. XM_036152814.1XP_036008707.1  ryanodine receptor 1 isoform X1

    Related
    ENSMUSP00000149042.2, ENSMUST00000214374.2
    Conserved Domains (10) summary
    cd12877
    Location:644795
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10741206
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    cd12879
    Location:14201568
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    pfam00520
    Location:47814965
    Ion_trans; Ion transport protein
    pfam01365
    Location:445638
    RYDR_ITPR; RIH domain
    pfam02026
    Location:852942
    RyR; RyR domain
    pfam02815
    Location:213391
    MIR; MIR domain
    pfam06459
    Location:43994687
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38803996
    RIH_assoc; RyR and IP3R Homology associated
    cl19745
    Location:12211
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
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