SCN1A - sodium voltage-gated channel alpha subunit 1 Gene
Species: Rattus norvegicus
About SCN1A
This gene has 3 transcripts (splice variants), 140 orthologues, 26 paralogues and is associated with 55 phenotypes. Biased expression in Brain (RPKM 38.6), Heart (RPKM 37.9) and 1 other tissue.
Summary
Enables sodium ion binding activity and voltage-gated Sodium Channel activity. Involved in neuronal action potential. Located in plasma membrane. Part of voltage-gated Sodium Channel complex. Is integral component of presynaptic membrane. Human ortholog(s) of this gene implicated in Dravet syndrome; developmental and epileptic encephalopathy; familial hemiplegic migraine 3; generalized epilepsy with febrile seizures plus; and generalized epilepsy with febrile seizures plus 2. Orthologous to human SCN1A (sodium voltage-gated channel alpha subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
SCN1A Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_030875.2 | NP_110502.2 | sodium channel protein type 1 subunit alpha |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables voltage-gated sodium channel activity |
IMP
IMP: Inferred from mutant phenotype
|
17273863 | RGD |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in neuronal action potential |
IDA
IDA: Inferred from direct assay
|
15917456 | RGD |
| involved in neuronal action potential |
IMP
IMP: Inferred from mutant phenotype
|
17273863 | RGD |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in presynaptic membrane |
IDA
IDA: Inferred from direct assay
|
18079688 | RGD |
SCN1A Protein Structure
Ion_trans: pfam00520 (126 - 432)
Na_trans_cytopl: pfam11933 (554 - 717)
Ion_trans: pfam00520 (766 - 979)
Na_trans_assoc: pfam06512 (1005 - 1212)
Ion_trans: pfam00520 (1216 - 1491)
Na_channel_gate: cd13433 (1483 - 1535)
Ion_trans: pfam00520 (1539 - 1795)
- 0
- 400
- 800
- 1200
- 1600
- 2009 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium channel protein type 1 subunit alpha |
|
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