Gene
kcnma1a
- ID
- ZDB-GENE-070202-9
- Name
- potassium large conductance calcium-activated channel, subfamily M, alpha member 1a
- Symbol
- kcnma1a Nomenclature History
- Previous Names
-
- kcnma1
- slo1a (1)
- si:ch211-39f22.2
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Enables calcium ion binding activity and calcium-activated potassium channel activity. Involved in potassium ion transmembrane transport. Acts upstream of or within response to auditory stimulus. Located in membrane. Is expressed in several structures, including brain; otic vesicle; pectoral fin bud; peripheral olfactory organ; and presumptive diencephalon. Human ortholog(s) of this gene implicated in Alzheimer's disease; generalized epilepsy; and paroxysmal nonkinesigenic dyskinesia 3. Orthologous to human KCNMA1 (potassium calcium-activated channel subfamily M alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Rohmann et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa11910 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15809 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa16902 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22259 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa35448 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa38929 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| uab395 | Allele with one delins | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-kcnma1a | N/A | Rohmann et al., 2014 |
| MO2-kcnma1a | N/A | Pineda et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| paroxysmal nonkinesigenic dyskinesia 3 | Alliance | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | 609446 |
| Cerebellar atrophy, developmental delay, and seizures | 617643 | ||
| Liang-Wang syndrome | 618729 | ||
| {Epilepsy, idiopathic generalized, susceptibility to, 16} | 618596 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003929 | Calcium-activated potassium channel BK, alpha subunit |
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR048735 | Ca2+-activated K+ channel Slowpoke-like, C-terminal domain |
| Domain | IPR055153 | Calcium-activated potassium channel slowpoke-like, RCK domain |
| Family | IPR047871 | Calcium-activated potassium channel slowpoke-like |
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Domain Details Per Protein
| Protein | Length | Ca2+-activated K+ channel Slowpoke-like, C-terminal domain | Calcium-activated potassium channel BK, alpha subunit | Calcium-activated potassium channel slowpoke-like | Calcium-activated potassium channel slowpoke-like, RCK domain | Ion transport domain | NAD(P)-binding domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:B7ZC96
|
1184 | ||||||
|
UniProtKB:F1QYL4
|
1229 | ||||||
|
UniProtKB:A0A8M6Z3V4
|
1151 | ||||||
|
UniProtKB:A0A8M3B7Y4
|
1302 | ||||||
|
UniProtKB:A0A8M2B2Q5
|
1233 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnma1a-201
(1)
|
Ensembl | 4,328 nt | ||
| mRNA |
kcnma1a-205
(1)
|
Ensembl | 3,823 nt | ||
| mRNA |
kcnma1a-206
(1)
|
Ensembl | 3,690 nt | ||
| ncRNA |
kcnma1a-002
(1)
|
Ensembl | 849 nt | ||
| ncRNA |
kcnma1a-003
(1)
|
Ensembl | 725 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-39F22 | ZFIN Curated Data | |
| Contained in | BAC | CH211-140C17 | ZFIN Curated Data | |
| Contained in | BAC | CH211-215D15 | ZFIN Curated Data | |
| Contained in | BAC | RP71-1G24 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001145600 (1) | 3555 nt | ||
| Genomic | GenBank:AL954192 (2) | 198052 nt | ||
| Polypeptide | UniProtKB:A0A8M3AYZ7 (1) | 1305 aa |
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Pineda, S., Nikolova-Krstevski, V., Leimena, C., Atkinson, A.J., Altekoester, A.K., Cox, C.D., Jacoby, A., Huttner, I.G., Ju, Y.K., Soka, M., Ohanian, M., Trivedi, G., Kalvakuri, S., Birker, K., Johnson, R., Molenaar, P., Kuchar, D., Allen, D.G., van Helden, D.F., Harvey, R.P., Hill, A.P., Bodmer, R., Vogler, G., Dobrzynski, H., Ocorr, K., Fatkin, D. (2021) Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, KCa1.1, in Sinus Node Function and Arrhythmia Risk. Circulation. Genomic and precision medicine. 14(2):e003144
- Silic, M.R., Black, M.M., Zhang, G. (2021) Phylogenetic and developmental analyses indicate complex functions of Calcium-Activated Potassium Channels in zebrafish embryonic development. Developmental Dynamics : an official publication of the American Association of Anatomists. 250(10):1477-1493
- Jedrychowska, J., Gasanov, E.V., Korzh, V. (2020) Kcnb1 plays a role in development of the inner ear. Developmental Biology. 471:65-75
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Rohmann, K.N., Tripp, J.A., Genova, R.M., Bass, A.H. (2014) Manipulation of BK channel expression is sufficient to alter auditory hair cell thresholds in larval zebrafish. The Journal of experimental biology. 217(Pt 14):2531-9
- Yuan, P., Leonetti, M.D., Hsiung, Y., MacKinnon, R. (2011) Open structure of the Ca2+ gating ring in the high-conductance Ca2+-activated K+ channel. Nature. 481:949794-7
- Rohmann, K.N., Deitcher, D.L., and Bass, A.H. (2009) Calcium-activated potassium (BK) channels are encoded by duplicate slo1 genes in teleost fishes. Mol. Biol. Evol.. 26(7):1509-1521
- Beisel, K.W., Rocha-Sanchez, S.M., Ziegenbein, S.J., Morris, K.A., Kai, C., Kawai, J., Carninci, P., Hayashizaki, Y., and Davis, R.L. (2007) Diversity of Ca(2+)-activated K(+) channel transcripts in inner ear hair cells. Gene. 386(1-2):11-23
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