Gene
ryr1a
- ID
- ZDB-GENE-020108-2
- Name
- ryanodine receptor 1a (skeletal)
- Symbol
- ryr1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable ryanodine-sensitive calcium-release channel activity. Involved in nervous system development; skeletal muscle fiber development; and smoothened signaling pathway. Acts upstream of or within skeletal muscle contraction. Predicted to be located in membrane and sarcoplasmic reticulum. Predicted to be part of calcium channel complex. Predicted to be active in Z disc; endoplasmic reticulum; and sarcolemma. Is expressed in adaxial cell; slow muscle cell; somite; trunk; and trunk musculature. Human ortholog(s) of this gene implicated in congestive heart failure (multiple); intracranial vasospasm; and muscle tissue disease (multiple). Orthologous to human RYR1 (ryanodine receptor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa1535 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9332 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa12583 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13565 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa16264 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17197 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18239 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18990 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21768 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21769 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-ryr1a | N/A | (2) |
| MO2-ryr1a | N/A | Jurynec et al., 2008 |
| TALEN1-ryr1a | (4) |
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Human Disease
| 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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | 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, junctional solenoid domain | 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:A0A8M9Q3E5 | InterPro | 2924 | ||||||||||||||||||||
| UniProtKB:A0A8M3B6F3 | InterPro | 5063 | ||||||||||||||||||||
| UniProtKB:A0A8M9Q046 | InterPro | 2930 | ||||||||||||||||||||
| UniProtKB:A0A8M9PAE5 | InterPro | 2932 | ||||||||||||||||||||
| UniProtKB:A0A8M9PSX0 | InterPro | 2920 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-18A10 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-51F8 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068223834 (1) | 16051 nt | ||
| Genomic | GenBank:BX088525 (2) | 206225 nt | ||
| Polypeptide | UniProtKB:A0AB32U3K9 (1) | 5073 aa |
- Donaka, R., Zheng, H., Ackert-Bicknell, C.L., Karasik, D. (2024) Early life lipid overload in Native American Myopathy is phenocopied by stac3 knockout in zebrafish. Gene. 936:149123
- Bai, C., Zheng, Y., Tian, L., Lin, J., Song, Y., Huang, C., Dong, Q., Chen, J. (2023) Structure-based developmental toxicity and ASD-phenotypes of bisphenol A analogues in embryonic zebrafish. Ecotoxicology and environmental safety. 253:114643114643
- Lu, S., Lyu, Z., Wang, Z., Kou, Y., Liu, C., Li, S., Hu, M., Zhu, H., Wang, W., Zhang, C., Kuan, Y.S., Liu, Y.W., Chen, J., Tian, J. (2021) Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish. Theranostics. 11:2788-2805
- Shen, C., Zhou, Y., Tang, C., He, C., Zuo, Z. (2020) Developmental exposure to mepanipyrim induces locomotor hyperactivity in zebrafish (Danio rerio) larvae. Chemosphere. 256:127106
- Volpatti, J.R., Endo, Y., Knox, J., Groom, L., Brennan, S., Noche, R., Zuercher, W.J., Roy, P., Dirksen, R.T., Dowling, J.J. (2020) Identification of drug modifiers for RYR1 related myopathy using a multi-species discovery pipeline. eLIFE. 9:
- Chagovetz, A.A., Klatt Shaw, D., Ritchie, E., Hoshijima, K., Grunwald, D.J. (2019) Interactions among Ryanodine Receptor isotypes contribute to muscle fiber type development and function. Disease models & mechanisms. 13(2):
- Chen, X., Chen, Y., Huang, C., Dong, Q., Roper, C., Tanguay, R.L., Zhu, Y., Zhang, Y. (2019) Neurodevelopmental toxicity assessments of alkyl phenanthrene and Dechlorane Plus co-exposure in zebrafish. Ecotoxicology and environmental safety. 180:762-769
- Ma, Z., Liu, H., Yu, H. (2019) Triclosan affects Ca2+ regulatory module and musculature development in skeletal myocyte during early life stage of zebrafish (Danio rerio). Environmental science & technology. 53(20):11988-11998
- Frank, D.F., Miller, G.W., Harvey, D.J., Brander, S.M., Geist, J., Connon, R.E., Lein, P.J. (2018) Bifenthrin causes transcriptomic alterations in mTOR and ryanodine receptor-dependent signaling and delayed hyperactivity in developing zebrafish (Danio rerio). Aquatic toxicology (Amsterdam, Netherlands). 200:50-61
- Klatt Shaw, D., Gunther, D., Jurynec, M.J., Chagovetz, A.A., Ritchie, E., Grunwald, D.J. (2018) Intracellular Calcium Mobilization Is Required for Sonic Hedgehog Signaling. Developmental Cell. 45(4):512-525.e5
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