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 several processes, including fast-twitch skeletal muscle fiber contraction; larval locomotory behavior; and 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; heart; skeletal muscle cell; trunk; and trunk musculature. Orthologous to human RYR1 (ryanodine receptor 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
15 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
16 figures from 7 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
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 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
Family IPR015925 Ryanodine/Inositol 1,4,5-trisphosphate 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/Inositol 1,4,5-trisphosphate receptor 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:A0A8M6YTI2 5109
UniProtKB:A6P4B8 5076
UniProtKB:A0A8M6YVZ9 5089
UniProtKB:A0A8M6YU63 5098
UniProtKB:A0A8M9PM90 5097
UniProtKB:A0A8M9PA63 5103
UniProtKB:A0A8M9PFJ3 5103
UniProtKB:A0A8M6Z1Y4 5104
UniProtKB:A0A8M6Z1Y9 5071
UniProtKB:A0A8M9PQC8 5102
UniProtKB:A0A8M6Z2L8 5072
UniProtKB:A0A8M6YTI9 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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations