ZFIN ID: ZDB-GENE-070705-417
Gene Name: ryanodine receptor 1b (skeletal)
Gene Symbol: ryr1b    Nomenclature History

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Previous Names: im:7137738, relatively relaxed (1), ryanodine receptor 1b (fast muscle) (1), si:dkey-250i19.1

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(Including Attributions)
Gene 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 the 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: Alliance (1),  Gene:570245 (1),  Ensembl(GRCz11):ENSDARG00000023797 (2)
GENE EXPRESSION
All Expression Data: 11 figures from 7 publications
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2004 [IMAGE:7137738]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Adult (90d-730d, breeding adult)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
mi340 Insertion Intron 48 Premature Stop SPONTANEOUS
mn0348Gt Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa2983 Point Mutation Unknown Premature Stop ENU
    sa6529 Point Mutation Unknown Premature Stop ENU
    sa8663 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa8792 Point Mutation Unknown Missense, Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa8832 Point Mutation Unknown Missense, Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa8908 Point Mutation Unknown Missense, Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa9444 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa10230 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa13194 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa14094 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa14191 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23337 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23338 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23339 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23340 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23341 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa36692 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39207 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39208 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa43144 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa43145 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa44893 Point Mutation Unknown Unknown ENU
    sa44894 Point Mutation Unknown Unknown ENU
    sa45643 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • z43 Small Deletion Exon 6 Frameshift, Premature Stop TALEN
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-ryr1b N/A 1
    MO2-ryr1b N/A 1
    MO3-ryr1b N/A 1
    MO4-ryr1b N/A 2
    TALEN1-ryr1b 1
    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
    Neuromuscular disease, congenital, with uniform type 1 fiber 117000
    King-Denborough syndrome 145600
    Minicore myopathy with external ophthalmoplegia 255320
    {Malignant hyperthermia susceptibility 1} 145600
    DISEASE ASSOCIATED WITH ryr1b VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process smoothened signaling pathway (more)
    Cellular Component integral component of membrane (more)
    Molecular Function protein binding (more)
    GO Terms (all 25)
    PROTEIN FAMILIES, DOMAINS AND SITES
    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
    Homologous_superfamily IPR011992 EF-hand domain pair
    Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
    Family IPR013333 Ryanodine receptor
    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
    Homologous_superfamily IPR035910 RyR/IP3 receptor binding core, RIH domain superfamily
    Homologous_superfamily IPR036300 Mir domain superfamily
    Browsers: NCBI
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM ryr1b No data available
    MARKER RELATIONSHIPS
    ryr1b Contained in: [BAC] CH73-151A12 (1), DKEY-12O15 (1) (order this), DKEY-233H2 (1) (order this), DKEY-250I19 (1) (order this)
    ryr1b Encodes: [EST] IMAGE:7137738 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001102571 (1) 15231 bp
    Genomic GenBank:CR377223 (1) 211465 bp Blast at MegaBLAST
    Polypeptide UniProtKB:F1QEX9 (1) 5078 aa
    Sequence Information (all 39)
    ORTHOLOGY for ryr1b ( Chr: 18 )
    CITATIONS (46)