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Ryr1 Gene Detail
Summary
  • Symbol
    Ryr1
  • Name
    ryanodine receptor 1, skeletal muscle
  • Synonyms
    calcium release channel isoform 1, Ryr, skrr
  • Feature Type
    protein coding gene
  • IDs
    MGI:99659
    NCBI Gene: 20190
  • Gene Overview
    MyGene.info: RYR1
Location & Maps
more
  • Sequence Map
    Chr7:29003344-29125179 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      121836 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 16.94 cM, cytoband A2-B3
  • Mapping Data
    14 experiments
Homology
more
  • Human Ortholog
    RYR1, ryanodine receptor 1
  • Vertebrate Orthologs
    6
  • Human Ortholog
    RYR1, ryanodine receptor 1
    Orthology source: HomoloGene
  • Synonyms
    CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR
  • Links
    NCBI Gene ID: 6261
    neXtProt AC: NX_P21817

  • Chr Location
    19q13.2; chr19:38433700-38587564 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Ryr1 mouse models; 4 with human RYR1 associations

Human Disease Mouse Models
       Central Core Disease of Muscle; CCD   OMIM: 117000 View 3 models
Malignant Hyperthermia, Susceptibility to, 1; MHS1   OMIM: 145600 View 2 models
Minicore Myopathy with External Ophthalmoplegia   OMIM: 255320 View 1 model
       Myopathy, Congenital, with Fiber-Type Disproportion; CFTD   OMIM: 255310
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    87 phenotypes from 11 alleles in 11 genetic backgrounds
    7 images
    56 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    20
  • Chemically induced (ENU)
    2
  • Gene trapped
    5
  • Targeted
    13
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000059211 VEGA Gene Model | MGI Sequence Detail 121836 C57BL/6J ±  kb
transcript OTTMUST00000145296 VEGA | MGI Sequence Detail 15358 Not Applicable  
polypeptide OTTMUSP00000075714 VEGA | MGI Sequence Detail 5035 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1119 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 41
    Genomic 4
    cDNA 35
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-14267, MGD-MRK-16444, MGI:2141994
References
more
  • Summaries
    All 148
    Developmental Gene Expression 25
    Diseases 5
    Gene Ontology 21
    Phenotypes 56
  • 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:226616 Araujo DJ, et al., FoxP1 orchestration of ASD-relevant signaling pathways in the striatum. Genes Dev. 2015 Oct 15;29(20):2081-96

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory