Gene
cacna1sb
- ID
- ZDB-GENE-051227-1
- Name
- calcium channel, voltage-dependent, L type, alpha 1S subunit, b
- Symbol
- cacna1sb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable high voltage-gated calcium channel activity. Predicted to be involved in calcium ion import across plasma membrane. Predicted to act upstream of or within calcium ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in atrium and cardiac ventricle. Human ortholog(s) of this gene implicated in congenital myopathy 18; hypokalemic periodic paralysis; and malignant hyperthermia. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hsc199 | Allele with one delins | Donor Splice Site of Exon 16 | Unknown | CRISPR | |
| sa1443 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa12580 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa27213 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34412 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34413 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34414 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38692 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa41219 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myopathy 18 | Alliance | Congenital myopathy 18 due to dihydropyridine receptor defect | 620246 |
| hypokalemic periodic paralysis | Alliance | Hypokalemic periodic paralysis, type 1 | 170400 |
| {Malignant hyperthermia susceptibility 5} | 601887 | ||
| {Thyrotoxic periodic paralysis, susceptibility to, 1} | 188580 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR014873 | Voltage-dependent calcium channel, alpha-1 subunit, IQ domain |
| Domain | IPR031649 | Voltage-dependent L-type calcium channel, IQ-associated domain |
| Domain | IPR031688 | Voltage-gated calcium channel subunit alpha, C-terminal |
| Family | IPR002077 | Voltage-dependent calcium channel, alpha-1 subunit |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Ion transport domain | Voltage-dependent calcium channel alpha-1 subunit | Voltage-dependent calcium channel, alpha-1 subunit | Voltage-dependent calcium channel, alpha-1 subunit, IQ domain | Voltage-dependent calcium channel, L-type, alpha-1S subunit | Voltage-dependent calcium channel, L-type, alpha-1 subunit | Voltage-dependent channel domain superfamily | Voltage-dependent L-type calcium channel, IQ-associated domain | Voltage-gated calcium channel subunit alpha, C-terminal |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6RKB0 | InterPro | 1847 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna1sb-201
(1)
|
Ensembl | 6,096 nt |
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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 | CH211-167B20 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_214726 (1) | 5872 nt | ||
| Genomic | GenBank:BX544876 (2) | 154624 nt | ||
| Polypeptide | UniProtKB:Q6RKB0 (1) | 1847 aa |
- Hu, T., Liu, L., Wang, H., Yang, M., Xu, B., Xie, H., Lin, Z., Jin, X., Wang, P., Liu, Y., Sun, H., Liu, S. (2024) RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium. Journal of genetics and genomics = Yi chuan xue bao. 51(5):543-553
- Endo, Y., Groom, L., Wang, S.M., Pannia, E., Griffiths, N.W., Van Gennip, J.L.M., Ciruna, B., Laporte, J., Dirksen, R.T., Dowling, J.J. (2023) Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy. Human molecular genetics. 33(3):254-269
- Mao, K., Li, X., Chen, Z., Dong, X., Zhangsun, D., Zhu, X., Luo, S. (2022) α-Conotoxin TxIB Improved Behavioral Abnormality and Changed Gene Expression in Zebrafish (Danio rerio) Induced by Alcohol Withdrawal. Frontiers in pharmacology. 13:802917
- 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
- Dayal, A., Ng, S.F.J., Grabner, M. (2019) Ca2+-activated Cl- channel TMEM16A/ANO1 identified in zebrafish skeletal muscle is crucial for action potential acceleration. Nature communications. 10:115
- El Ghaleb, Y., Campiglio, M., Flucher, B.E. (2019) Correcting the R165K substitution in the first voltage-sensor of CaV1.1 right-shifts the voltage-dependence of skeletal muscle calcium channel activation. Channels (Austin, Tex.). 13:62-71
- Healy, T.M., Schulte, P.M. (2019) Patterns of alternative splicing in response to cold acclimation in fish. The Journal of experimental biology. 222(Pt 5):
- 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
- Haverinen, J., Hassinen, M., Dash, S.N., Vornanen, M. (2018) Expression of calcium channel transcripts in the zebrafish heart: dominance of T-type channels. The Journal of experimental biology. 221(Pt 10)
- Hung, K.S., Hsiao, C.C., Pai, T.W., Hu, C.H., Tzou, W.S., Wang, W.D., Chen, Y.R. (2018) Functional enrichment analysis based on long noncoding RNA associations. BMC systems biology. 12:45
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