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Ryr1
Gene Detail
Symbol

Name
ID
Ryr1
ryanodine receptor 1, skeletal muscle
MGI:99659
Synonyms
calcium release channel isoform 1, Ryr, skrr
Feature Type
protein coding gene
Genetic Map
Chromosome 7
16.94 cM, cytoband A2-B3
Detailed Genetic Map ± 1 cM


Mapping data(14)
Sequence Map
Chr7:29003340-29125151 bp, - strand
From Ensembl annotation of GRCm38

  121812 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68069  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog

Gene Tree: Ryr1

Human
homologs
Human Homolog RYR1, ryanodine receptor 1 (skeletal)
NCBI Gene ID 6261
neXtProt AC  NX_P21817
Human Synonyms  CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR
Human Chr (Location)  19q13.1; chr19:38433700-38587564 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human RYR1
Mutations,
alleles, and
phenotypes
All mutations/alleles(18) : Chemically induced (ENU)(1) Gene trapped(5) Targeted(12)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally.
 
Human Diseases Modeled Using Mouse Ryr1 (3)    Alleles Annotated to Human Diseases(4)    Phenotype Images(7)
Interactions
Ryr1 interacts with 125 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (56 annotations)
Process calcium ion transmembrane transport, calcium ion transport, ...
Component cell, cell cortex, ...
Function calcium channel activity, calmodulin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (20 records)
Data Summary: Results (214)    Tissues (62)    Images (35)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 110
Northern blot 4
Western blot 48
RT-PCR 52
cDNA source data(33)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(41) Genomic(4) cDNA(35) Primer pair(2)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000030592 (Evidence)
Entrez Gene20190 (Evidence)
UniGene439745
DFCITC1581100, TC1593620, TC1607991
DoTSDT.488958, DT.91368176, DT.91392076, DT.94250600
NIA Mouse Gene IndexU028343
Consensus CDS ProjectCCDS39866.1
International Mouse Knockout Project StatusRyr1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000030592 Ensembl Gene Model | MGI Sequence Detail 121812 C57BL/6J ±  kb
transcript ENSMUST00000179893 Ensembl | MGI Sequence Detail 15362 Not Applicable 
polypeptide ENSMUSP00000137123 Ensembl | MGI Sequence Detail 5035 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(23) UniProt(5)
Polymorphisms
RFLP(3) : SNPs within 2kb(1125 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1129)
Protein-related
information
ResourceIDDescription
InterPro IPR001870 B30.2/SPRY domain
InterPro IPR013320 Concanavalin A-like lectin/glucanase, subgroup
InterPro IPR011992 EF-hand-like domain
InterPro IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptor
InterPro IPR000699 Intracellular calcium-release channel
InterPro IPR005821 Ion transport domain
InterPro IPR016093 MIR motif
InterPro IPR013333 Ryanodine receptor
InterPro IPR015925 Ryanodine receptor-related
InterPro IPR003032 Ryanodine receptor Ryr
InterPro IPR009460 Ryanodine Receptor TM 4-6
InterPro IPR013662 RyR/IP3R Homology associated domain
InterPro IPR003877 SPla/RYanodine receptor SPRY
Protein Ontology PR:000014377 ryanodine receptor 1
References
(Earliest) J:37396 Steck TL, The organization of proteins in the human red blood cell membrane. A review. J Cell Biol. 1974 Jul;62(1):1-19
(Latest) J:214188 Manno C, et al., Altered Ca2+ concentration, permeability and buffering in the myofibre Ca2+ store of a mouse model of malignant hyperthermia. J Physiol. 2013 Sep 15;591(Pt 18):4439-57
All references(139)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-14267, MGD-MRK-16444, MGI:2141994

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory