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 act upstream of or within monoatomic ion transmembrane transport and sodium ion transport. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated sodium channel complex. Predicted to be active in axon. Is expressed in heart; nervous system; and neural tube. Used to study Dravet syndrome. Human ortholog(s) of this gene implicated in Dravet syndrome; developmental and epileptic encephalopathy 6B; familial hemiplegic migraine 3; generalized epilepsy with febrile seizures plus; and generalized epilepsy with febrile seizures plus 2. Orthologous to several human genes including SCN7A (sodium voltage-gated channel alpha subunit 7).
- 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