Gene
scn1laa
- ID
- ZDB-GENE-040426-751
- Name
- sodium channel, voltage-gated, type I-like, alpha
- Symbol
- scn1laa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Contributes to voltage-gated sodium channel activity. Predicted to be involved in membrane depolarization during action potential; neuronal action potential; and sodium ion transmembrane transport. Predicted to localize to axon and voltage-gated sodium channel complex. Used to study Dravet syndrome. Human ortholog(s) of this gene implicated in epilepsy (multiple); erythromelalgia; familial hemiplegic migraine 3; and paroxysmal extreme pain disorder. Is expressed in heart; nervous system; and neural tube. Orthologous to several human genes including SCN1A (sodium voltage-gated channel alpha subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 10 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55600 (6 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la029626Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa1674 | Allele with one point mutation | Unknown | Missense, Splice Site | ENU | |
sa7636 | Allele with one point mutation | Unknown | Missense | ENU | |
sa15331 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa21602 | Allele with one point mutation | Unknown | Missense, Splice Site | ENU | |
sa21603 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa41553 | 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 |
---|---|---|---|
developmental and epileptic encephalopathy 6B | Alliance | Developmental and epileptic encephalopathy 6B, non-Dravet | 619317 |
Dravet syndrome | Alliance | Dravet syndrome | 607208 |
familial hemiplegic migraine 3 | Alliance | Migraine, familial hemiplegic, 3 | 609634 |
generalized epilepsy with febrile seizures plus 2 | Alliance | Febrile seizures, familial, 3A | 604403 |
generalized epilepsy with febrile seizures plus 2 | Alliance | Generalized epilepsy with febrile seizures plus, type 2 | 604403 |
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Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Dravet syndrome | scn1laasa1674/sa1674 (TL) | control | Griffin et al., 2017 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR005821 | Ion transport domain |
Domain | IPR010526 | Sodium ion transport-associated domain |
Domain | IPR024583 | Voltage-gated Na+ ion channel, cytoplasmic domain |
Domain | IPR044564 | Voltage-gated sodium channel alpha subunit, inactivation gate |
Family | IPR001696 | Voltage gated sodium channel, alpha subunit |
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Domain Details Per Protein
Protein | Length | Ion transport domain | Sodium ion transport-associated domain | Voltage-dependent channel domain superfamily | Voltage-gated cation channel calcium and sodium | Voltage-gated Na+ ion channel, cytoplasmic domain | Voltage gated sodium channel, alpha subunit | Voltage-gated sodium channel alpha subunit, inactivation gate |
---|---|---|---|---|---|---|---|---|
UniProtKB:Q20JQ9
|
1955 | |||||||
UniProtKB:A0A0R4IUM7
|
1955 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
scn1laa-201
(1)
|
Ensembl | 1,053 nt | ||
mRNA |
scn1laa-203
(1)
|
Ensembl | 6,421 nt | ||
mRNA |
scn1laa-204
(1)
|
Ensembl | 1,255 nt | ||
mRNA |
scn1laa-205
(1)
|
Ensembl | 2,501 nt | ||
mRNA |
scn1laa-206
(1)
|
Ensembl | 5,868 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 | CH211-66E19 | ZFIN Curated Data | |
Contained in | BAC | CH211-120F14 | ZFIN Curated Data | |
Contained in | Fosmid | CH1073-162M7 | ZFIN Curated Data | |
Encodes | cDNA | MGC:55600 | ZFIN Curated Data | |
Encodes | cDNA | MGC:158596 | ZFIN Curated Data | |
Encodes | cDNA | MGC:165418 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_200132 (1) | 5868 nt | ||
Genomic | GenBank:AL929294 (2) | 162474 nt | ||
Polypeptide | UniProtKB:A0A0R4IUM7 (1) | 1955 aa |
- Osorio-Méndez, D., Miller, A., Begeman, I.J., Kurth, A., Hagle, R., Rolph, D., Dickson, A.L., Chen, C.H., Halloran, M., Poss, K.D., Kang, J. (2022) Voltage-gated sodium channel scn8a is required for innervation and regeneration of amputated adult zebrafish fins. Proceedings of the National Academy of Sciences of the United States of America. 119:e2200342119
- Weuring, W.J., Dilevska, I., Hoekman, J., van de Vondervoort, J., Koetsier, M., van 't Slot, R.H., Braun, K.P.J., Koeleman, B.P.C. (2021) CRISPRa-Mediated Upregulation of scn1laa During Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity. The CRISPR journal. 4:575-582
- Haverinen, J., Hassinen, M., Korajoki, H., Vornanen, M. (2018) Cardiac voltage-gated sodium channel expression and electrophysiological characterization of the sodium current in the zebrafish (Danio rerio) ventricle. Progress in Biophysics and Molecular Biology. 138:59-68
- 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
- Gau, P., Curtright, A., Condon, L., Raible, D.W., Dhaka, A. (2017) An ancient neurotrophin receptor code; a single Runx/Cbfβ complex determines somatosensory neuron fate specification in zebrafish. PLoS Genetics. 13:e1006884
- Griffin, A., Hamling, K.R., Knupp, K., Hong, S., Lee, L.P., Baraban, S.C. (2017) Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome. Brain : a journal of neurology. 140(3):669-683
- Baraban, S.C., Dinday, M.T., and Hortopan, G.A. (2013) Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment. Nature communications. 4:2410
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Won, Y.J., Ono, F., and Ikeda, S.R. (2012) Characterization of na(+) and ca(2+) channels in zebrafish dorsal root ganglion neurons. PLoS One. 7(8):e42602
- Chopra, S.S., Stroud, D.M., Watanabe, H., Bennett, J.S., Burns, C.G., Wells, K.S., Yang, T., Zhong, T.P., and Roden, D.M. (2010) Voltage-Gated Sodium Channels Are Required for Heart Development in Zebrafish. Circulation research. 106(8):1342-1350
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