Gene
cacna1ia
- ID
- ZDB-GENE-060503-324
- Name
- calcium voltage-gated channel subunit alpha1 Ia
- Symbol
- cacna1ia Nomenclature History
- Previous Names
-
- cacna1i
- si:ch211-51h13.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have low voltage-gated calcium channel activity and voltage-gated sodium channel activity. Predicted to be involved in several processes, including calcium ion import; neuronal action potential; and positive regulation of calcium ion-dependent exocytosis. Predicted to localize to neuron projection and voltage-gated sodium channel complex. Human ortholog(s) of this gene implicated in schizophrenia. Is expressed in atrium and cardiac ventricle. Orthologous to human CACNA1I (calcium voltage-gated channel subunit alpha1 I).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
a245 | Allele with multiple variants | Unknown | Unknown | CRISPR | |
sa6897 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa10549 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa15653 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa20022 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa20023 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa31334 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Neurodevelopmental disorder with speech impairment and with or without seizures | 620114 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Ion transport domain | Voltage-dependent calcium channel, T-type, alpha-1 subunit | Voltage-dependent channel domain superfamily | Voltage-gated cation channel calcium and sodium |
---|---|---|---|---|---|
UniProtKB:A0A2R8Q1A5
|
2122 | ||||
UniProtKB:A0A8M9PEP7
|
2121 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cacna1i-202
(1)
|
Ensembl | 7,247 nt | ||
mRNA |
cacna1ia-201
(1)
|
Ensembl | 7,010 nt | ||
mRNA |
cacna1ia-203
(1)
|
Ensembl | 7,148 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 | CH211-51H13 | ZFIN Curated Data | |
Contained in | BAC | CH211-197D1 | ZFIN Curated Data | |
Contained in | BAC | RP71-39F1 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_009299474 (1) | |||
Genomic | GenBank:BX005369 (1) | 187523 nt | ||
Polypeptide | UniProtKB:A0A2R8Q1A5 (1) | 2122 aa |
- Kuo, M.W., Tsai, H.H., Wang, S.H., Chen, Y.Y., Yu, A.L., Yu, J. (2021) Yulink, predicted from evolutionary analysis, is involved in cardiac function. Journal of Biomedical Science. 28:7
- Qian, Y., Ji, C., Yue, S., Zhao, M. (2019) Exposure of low-dose fipronil enantioselectively induced anxiety-like behavior associated with DNA methylation changes in embryonic and larval zebrafish. Environmental pollution (Barking, Essex : 1987). 249:362-371
- Thyme, S.B., Pieper, L.M., Li, E.H., Pandey, S., Wang, Y., Morris, N.S., Sha, C., Choi, J.W., Herrera, K.J., Soucy, E.R., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S.A., Schier, A.F. (2019) Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. 177(2):478-491.e20
- 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)
- Sanhueza, D., Montoya, A., Sierralta, J., and Kukuljan, M. (2009) Expression of voltage-activated calcium channels in the early zebrafish embryo. Zygote (Cambridge, England). 17(2):131-135
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