Gene

ryr1b

ID
ZDB-GENE-070705-417
Name
ryanodine receptor 1b (skeletal)
Symbol
ryr1b Nomenclature History
Previous Names
  • ryrab (1)
  • im:7137738
  • relatively relaxed (1)
  • ryanodine receptor 1b (fast muscle) (1)
  • si:dkey-250i19.1
Type
protein_coding_gene
Location
Chr: 18 Mapping Details/Browsers
Description
Exhibits ryanodine-sensitive calcium-release channel activity. Involved in cellular response to oxidative stress; larval locomotory behavior; and twitch skeletal muscle contraction. Predicted to localize to several cellular components, including Z disc; endoplasmic reticulum; and sarcolemma. Is expressed in adaxial cell; heart; skeletal muscle cell; trunk; and trunk musculature. Human ortholog(s) of this gene implicated in central core myopathy and malignant hyperthermia. Orthologous to human RYR1 (ryanodine receptor 1).
Genome Resources
Note
None
Expression
All Expression Data
15 figures from 8 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
12 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ryr1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
central core myopathy Alliance Central core disease 117000
central core myopathy Alliance Neuromuscular disease, congenital, with uniform type 1 fiber 117000
King-Denborough syndrome 145600
Minicore myopathy with external ophthalmoplegia 255320
{Malignant hyperthermia susceptibility 1} 145600
Associated With ryr1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000699 RIH domain
Domain IPR001870 B30.2/SPRY domain
Domain IPR003032 Ryanodine receptor Ryr
Domain IPR003877 SPRY domain
Domain IPR005821 Ion transport domain
Domain IPR009460 Ryanodine Receptor TM 4-6
Domain IPR013662 RyR/IP3R Homology associated domain
Domain IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptor
Domain IPR016093 MIR motif
Domain IPR035761 Ryanodine receptor, SPRY domain 1
Domain IPR035762 Ryanodine receptor, SPRY domain 3
Domain IPR035764 Ryanodine receptor, SPRY domain 2
Family IPR013333 Ryanodine receptor
Homologous_superfamily IPR011992 EF-hand domain pair
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR035910 RyR/IP3 receptor binding core, RIH domain superfamily
Homologous_superfamily IPR036300 Mir domain superfamily
Homologous_superfamily IPR043136 B30.2/SPRY domain superfamily
Domain Details Per Protein
Protein Length B30.2/SPRY domain B30.2/SPRY domain superfamily Concanavalin A-like lectin/glucanase domain superfamily EF-hand domain pair Inositol 1,4,5-trisphosphate/ryanodine receptor Ion transport domain Mir domain superfamily MIR motif RIH domain Ryanodine receptor Ryanodine receptor Ryr Ryanodine receptor, SPRY domain 1 Ryanodine receptor, SPRY domain 2 Ryanodine receptor, SPRY domain 3 Ryanodine Receptor TM 4-6 RyR/IP3 receptor binding core, RIH domain superfamily RyR/IP3R Homology associated domain SPRY domain
UniProtKB:F1QEX9 5078
UniProtKB:A6P4B8 5076
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations