header logo image header logo text
Downloads Login
Research
General Information
ZIRC
ZFIN ID: ZDB-GENE-020108-2
Gene Name: ryanodine receptor 1a (skeletal)
Gene Symbol: ryr1a    Nomenclature History

{{control.fieldName}} Edit

ID: {{control.nomenID}}
{{control.fieldName}}:
Reason:
Comments:

Attributions

{{pub.zdbID}}
Previous Names: ryr1, ryanodine receptor 1a (slow muscle) (1)

Add new Alias

Alias
Attribution

Attributions for Alias: {{control.newAlias}}

{{pub.zdbID}}

Delete Alias:

(Including Attributions)
Gene 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 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; slow muscle cell; somite; trunk; and trunk musculature. Orthologous to human RYR1 (ryanodine receptor 1).
Genome Resources: Alliance (1),  Gene:798565 (1),  Ensembl(GRCz11):ENSDARG00000011422 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa1535 Point Mutation Unknown Premature Stop ENU
sa9332 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa12583 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa13565 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa16264 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa17197 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa18239 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa18990 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa21768 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa21769 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa24879 Point Mutation Unknown Premature Stop ENU
    sa34941 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa34942 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa34943 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa41692 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa41693 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa41694 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa45414 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • z42 Small Deletion Exon 6 Frameshift, Premature Stop TALEN
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-ryr1a N/A 2
    MO2-ryr1a N/A 1
    TALEN1-ryr1a 2
    PHENOTYPE
    Data: Fig. 3 from Jurynec et al., 2008
    Observed in:
    DISEASE ASSOCIATED WITH ryr1a 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 ryr1a 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 calcium channel activity (more)
    GO Terms (all 22)
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA ryr1a-201 (1)    Ensembl 16015
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM ryr1a No data available
    MARKER RELATIONSHIPS
    ryr1a Contained in: [BAC] DKEY-18A10 (1) (order this), DKEYP-51F8 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_009305502 (1)
    Genomic RefSeq:NW_018394792 (1) Blast at MegaBLAST
    Polypeptide UniProtKB:F1QCK4 (1) 5062 aa
    Sequence Clusters UniGene:157654 (1)
    Sequence Information (all 36)
    ORTHOLOGY for ryr1a ( Chr: 10 )
    CITATIONS (33)