About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:28702765-28824599 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 16.94 cM, cytoband A2-B3
  • Mapping Data
    14 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3989 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99659
 protein coding gene Chr7:28702765-28824604 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031970
 protein coding gene Chr7:27895439-28026366 (-)
A/J MGP_AJ_G0031948
 protein coding gene Chr7:27161638-27289578 (-)
AKR/J MGP_AKRJ_G0031880
 protein coding gene Chr7:27867238-27991156 (-)
BALB/cJ MGP_BALBcJ_G0031955
 protein coding gene Chr7:27317869-27452637 (-)
C3H/HeJ MGP_C3HHeJ_G0031674
 protein coding gene Chr7:28266125-28394218 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032419
 protein coding gene Chr7:28775231-28907795 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029471
 protein coding gene Chr7:28221533-28348603 (-)
CAST/EiJ MGP_CASTEiJ_G0031009
 protein coding gene Chr7:21561196-21693783 (-)
CBA/J MGP_CBAJ_G0031640
 protein coding gene Chr7:30133722-30263472 (-)
DBA/2J MGP_DBA2J_G0031792
 protein coding gene Chr7:26906667-27028660 (-)
FVB/NJ MGP_FVBNJ_G0031749
 protein coding gene Chr7:26997746-27121942 (-)
LP/J MGP_LPJ_G0031872
 protein coding gene Chr7:28191898-28321583 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031785
 protein coding gene Chr7:29517278-29646822 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032449
 protein coding gene Chr7:27345818-27480476 (-)
PWK/PhJ MGP_PWKPhJ_G0030734
 protein coding gene Chr7:21945060-22071592 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030567
 protein coding gene Chr7:18373637-18577078 (-)
WSB/EiJ MGP_WSBEiJ_G0031118
 protein coding gene Chr7:27722663-27849593 (-)



Homology
more
  • Human Ortholog
    RYR1, ryanodine receptor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RYR1, ryanodine receptor 1
  • Synonyms
    CCO, CMYO1A, CMYO1B, CMYP1A, CMYP1B, KDS, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR
  • Links
    NCBI Gene ID: 6261
    neXtProt AC: NX_P21817
    UniProt: P21817

  • Chr Location
    19q13.2; chr19:38433691-38595273 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Ryr1 mouse models; 7 with human RYR1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 1 model
IDs
 View 5 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    107 phenotypes from 16 alleles in 17 genetic backgrounds
    7 images
    94 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.
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. Compound heterozygosity for the p.Q1971Tfs*49 and p.A4330D mutations affects muscle calcium ion kinetics and leads to reduced body weight and muscle strength.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    78
  • GO References
    26
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    974
  • Tissues
    85
  • cDNA Data
    34
  • Literature Summary
    39
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20190 NCBI Gene Model | MGI Sequence Detail 121835 C57BL/6J ±  kb
    transcript NM_009109 RefSeq | MGI Sequence Detail 15362 Not Specified  
    polypeptide E9PZQ0 UniProt | EBI | MGI Sequence Detail 5035 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 45
      Genomic 4
      cDNA 36
      Primer pair 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14267, MGD-MRK-16444, MGI:2141994
    References
    more
    • Summaries
      All 227
      Developmental Gene Expression 39
      Diseases 9
      Gene Ontology 26
      Phenotypes 94
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory