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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

HCOP human homology predictions: RYR1
Gene Tree: Ryr1

Human
homologs
RYR1, ryanodine receptor 1 (skeletal)
Orthology source: HomoloGene

IDs:
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.p2

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 , CvDC )
 
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 in Mice Using Ryr1 (3)    Mutations Annotated to Human Diseases (4)    Phenotype Images(7)
Interactions
Ryr1 interacts with 124 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (58 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: (22 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ryr1 ; ZFIN ryr1a, ryr1b    NEW 
Molecular
reagents
All nucleic(41) Genomic(4) cDNA(35) Primer pair(2)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000030592 (Evidence)
Entrez Gene 20190 (Evidence)
UniGene 439745
DFCI TC1581100, TC1593620, TC1607991
DoTS DT.488958, DT.91368176, DT.91392076, DT.94250600
NIA Mouse Gene Index U028343
Consensus CDS Project CCDS39866.1
International Mouse Phenotyping Consortium Status Ryr1
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(60) RefSeq(27) UniProt(3)
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:217579 Anderson DM, et al., A Micropeptide Encoded by a Putative Long Noncoding RNA Regulates Muscle Performance. Cell. 2015 Jan 28;
All references(144)
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
07/21/2015
MGI 5.22
The Jackson Laboratory