Gene

scn1laa

ID
ZDB-GENE-040426-751
Name
sodium channel, voltage-gated, type I-like, alpha
Symbol
scn1laa Nomenclature History
Previous Names
  • scn1a
  • scn1Laa (1)
  • zscn8 (1)
  • Nav1.1 (1)
  • unm_sa1674
  • zgc:158596
  • zgc:55600
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
Expression
All Expression Data
10 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With scn1laa Human Ortholog
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
Associated With scn1laa Via Experimental Models
Human Disease Fish Conditions Citations
Dravet syndrome scn1laasa1674/sa1674 (TL) control Griffin et al., 2017
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
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
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations