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. Is expressed in heart; nervous system; and neural tube. Used to study Dravet syndrome. Human ortholog(s) of this gene implicated in epilepsy (multiple); episodic ataxia; erythromelalgia; familial hemiplegic migraine 3; and paroxysmal extreme pain disorder. Orthologous to several human genes including SCN1A (sodium voltage-gated channel alpha subunit 1).
Genome Resources
Note
None
Expression
All Expression Data
10 figures from 6 publications
Cross-Species Comparison
High Throughput Data
No data available
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
Dravet syndrome Alliance Dravet syndrome 607208
familial hemiplegic migraine 3 Alliance Migraine, familial hemiplegic, 3 609634
generalized epilepsy with febrile seizures plus 2 Alliance Epilepsy, generalized, with febrile seizures plus, type 2 604403
generalized epilepsy with febrile seizures plus 2 Alliance Febrile seizures, familial, 3A 604403
Associated With scn1laa Via Experimental Models
Human Disease Fish Conditions Citations
Dravet syndrome scn1laasa1674/sa1674 control Griffin et al., 2017
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR000048 IQ motif, EF-hand binding site
Domain IPR005821 Ion transport domain
Domain IPR010526 Sodium ion transport-associated
Domain IPR024583 Voltage-gated Na+ ion channel, cytoplasmic domain
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 IQ motif, EF-hand binding site Sodium ion transport-associated 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
UniProtKB:E7FFV4 304
UniProtKB:Q20JQ9 1955
UniProtKB:A0A0R4IUM7 1955
UniProtKB:A0A0R4IM09 711
UniProtKB:A2RV12 690
UniProtKB:A7E273 711
UniProtKB:Q803T8 711
UniProtKB:A0A0R4IHZ1 407
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations