Gene

ryr1a

ID
ZDB-GENE-020108-2
Name
ryanodine receptor 1a (skeletal)
Symbol
ryr1a Nomenclature History
Previous Names
  • ryr1
  • ryraa (1)
  • ryanodine receptor 1a (slow muscle) (1)
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Predicted to have calcium ion binding activity; calcium-induced calcium release activity; and ryanodine-sensitive calcium-release channel activity. Involved in smoothened signaling pathway. Predicted to localize to several cellular components, including Z disc; endoplasmic reticulum; and sarcolemma. Human ortholog(s) of this gene implicated in central core myopathy and malignant hyperthermia. Is expressed in adaxial cell; slow muscle cell; somite; trunk; and trunk musculature. Orthologous to human RYR1 (ryanodine receptor 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
12 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ryr1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital myopathy 1A Alliance Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia 117000
congenital myopathy 1B Alliance Congenital myopathy 1B, autosomal recessive 255320
King Denborough syndrome Alliance King-Denborough syndrome 619542
{Malignant hyperthermia susceptibility 1} 145600
Associated With ryr1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations