Gene
cacna1c
- ID
- ZDB-GENE-020129-1
- Name
- calcium channel, voltage-dependent, L type, alpha 1C subunit
- Symbol
- cacna1c Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including calcium ion import; embryonic organ morphogenesis; and physiological cardiac muscle hypertrophy. Predicted to be located in several cellular components, including T-tubule; perikaryon; and postsynaptic density membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in central nervous system; digestive system; lateral plate mesoderm; pericardial region; and splanchnocranium. Human ortholog(s) of this gene implicated in Brugada syndrome 3; Timothy syndrome; long QT syndrome 8; and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures. Orthologous to human CACNA1C (calcium voltage-gated channel subunit alpha1 C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 12 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
a366 | Allele with one delins | Unknown | Unknown | CRISPR | |
biz102 | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
la015364Tg | Transgenic insertion | Unknown | Unknown | DNA | |
m231 | unknown | Unknown | Unknown | ENU | |
m379 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
m458 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa6050 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa6943 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa10930 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa15296 | 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 |
---|---|---|---|
Brugada syndrome 3 | Alliance | Brugada syndrome 3 | 611875 |
long QT syndrome 8 | Alliance | Long QT syndrome 8 | 618447 |
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | Alliance | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 620029 |
Timothy syndrome | Alliance | Timothy syndrome | 601005 |
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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-1C 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:A0A8M9PU55 | InterPro | 2183 | |||||||||
UniProtKB:A0A8M9QAX1 | InterPro | 2202 | |||||||||
UniProtKB:A0A8M9PGZ0 | InterPro | 2201 | |||||||||
UniProtKB:A0A8M9QAX6 | InterPro | 2193 | |||||||||
UniProtKB:A0A8M9PU49 | InterPro | 2186 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cacna1c-201
(1)
|
Ensembl | 6,753 nt | ||
mRNA |
cacna1c-202
(1)
|
Ensembl | 6,852 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 | CH211-87P6 | ZFIN Curated Data | |
Contained in | BAC | DKEY-65M5 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_131900 (1) | 6776 nt | ||
Genomic | GenBank:BX248410 (2) | 250665 nt | ||
Polypeptide | UniProtKB:A0AB32TNI5 (1) | 2230 aa |
- Yu, R., Ai, N., Huang, C., Wang, D., Bian, C., Ge, W., Chong, C.M. (2024) Aspirin reduces Ponatinib-induced cardiovascular toxic phenotypes and death in zebrafish. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. 180:117503117503
- Zadmajid, V., Shahriar, S., Gorelick, D.A. (2024) Testosterone acts through membrane protein GPRC6A to cause cardiac edema in zebrafish embryos. Development (Cambridge, England). 151(23):
- Chiang, D.Y., Verkerk, A.O., Victorio, R., Shneyer, B.I., van der Vaart, B., Jouni, M., Narendran, N., Kc, A., Sampognaro, J.R., Vetrano-Olsen, F., Oh, J.S., Buys, E., de Jonge, B., Shah, D.A., Kiviniemi, T., Burridge, P.W., Bezzina, C.R., Akhmanova, A., MacRae, C.A. (2023) The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction. Circulation research. 134(1):46-59
- Jia, B.Z., Qi, Y., Wong-Campos, J.D., Megason, S.G., Cohen, A.E. (2023) A bioelectrical phase transition patterns the first vertebrate heartbeats. Nature. 622(7981):149-155
- Jia, P.P., Chandrajith, R., Junaid, M., Li, T.Y., Li, Y.Z., Wei, X.Y., Liu, L., Pei, D.S. (2023) Elucidating environmental factors and their combined effects on CKDu in Sri Lanka using zebrafish. Environmental pollution (Barking, Essex : 1987). 332:121967
- Pluimer, B.R., Harrison, D.L., Boonyavairoje, C., Prinssen, E.P., Rogers-Evans, M., Peterson, R.T., Thyme, S.B., Nath, A.K. (2023) Behavioral analysis through the lifespan of disc1 mutant zebrafish identifies defects in sensorimotor transformation. iScience. 26:107099107099
- Sieliwonczyk, E., Vandendriessche, B., Claes, C., Mayeur, E., Alaerts, M., Holmgren, P., Canter Cremers, T., Snyders, D., Loeys, B., Schepers, D. (2023) Improved selection of zebrafish CRISPR editing by early next-generation sequencing based genotyping. Scientific Reports. 13:14911491
- Thiagarajan, S.K., Mok, S.Y., Ogawa, S., Parhar, I.S., Tang, P.Y. (2023) Integrative Roles of Dopamine Pathway and Calcium Channels Reveal a Link between Schizophrenia and Opioid Use Disorder. International Journal of Molecular Sciences. 24(4):
- Fang, C., Wang, P., Yu, D., Zhang, X., Gou, D., Liang, L., Bai, X., Xie, W., Li, H., Pu, J., Yao, Y., Wang, B., Ren, X., Ke, T., Tu, X., Xu, C., Wang, Q.K. (2022) Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and Cardiac Rhythm Maintenance. Circulation. Genomic and precision medicine. 15(5):e003603
- White, R.J., Mackay, E., Wilson, S.W., Busch-Nentwich, E.M. (2022) Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants. eLIFE. 11:
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