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 NCBI 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; 2 zebrafish

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, RYDR, RYR, RYR-1, SKRR
Human Chr (Location)		19q13.1; chr19:38924340-39078204 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human RYR1

Alleles and phenotypes

All alleles(16) : Targeted(10) Gene trapped(5) Chemically induced(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (53 annotations)

Process	calcium ion transmembrane transport, calcium ion transport, ...
Component	cell cortex, cytoplasm, ...
Function	calcium channel activity, calcium ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (17 records)
Data Summary: Results (185)    Tissues (30)    Images (23)
Theiler Stages: 22, 23, 26, 28

Assay Type	Results
RNA in situ	85
Western blot	48
RT-PCR	52

cDNA source data(33)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(40) Genomic(4) cDNA(34) 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 Knockout Project Status	Ryr1

Sequences

Length	Strain/Species
genomic	20190	NCBI Gene Model | MGI Sequence Detail	121812	C57BL/6J
transcript	NM_009109	RefSeq | MGI Sequence Detail	15362	Not Specified
polypeptide	E9PZQ0	UniProt | EBI | MGI Sequence Detail	5035	Not Applicable

All sequences(34) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(3) : SNPs(681 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001870	B30.2/SPRY domain
InterPro	IPR008985	Concanavalin A-like lectin/glucanases superfamily
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
InterPro	IPR018355	SPla/RYanodine receptor subgroup
Protein Ontology	PR:000014377	ryanodine receptor 1

Graphical View of Protein Domain Structure

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:195021 Loy RE, et al., Allele-specific gene silencing in two mouse models of autosomal dominant skeletal myopathy. PLoS One. 2012;7(11):e49757
All references(128)

Other accession IDs

MGD-MRK-14267, MGD-MRK-16444, MGI:2141994