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
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 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Dravet syndrome | scn1laasa1674/sa1674 (TL) | control | Griffin et al., 2017 |
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 |
Family | IPR043203 | Voltage-gated cation channel calcium and sodium |
Homologous_superfamily | IPR027359 | Voltage-dependent channel domain superfamily |
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 |
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 | ||
ncRNA |
ottdart00000052047
(1)
|
Ensembl | 697 nt |
Interactions and Pathways
No data available
Plasmids
No data available