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
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
Developmental and epileptic encephalopathy 6B, non-Dravet 619317
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
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
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 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 Voltage-gated sodium channel alpha subunit, inactivation gate
UniProtKB:A7E273 711
UniProtKB:A0A0R4IHZ1 407
UniProtKB:A2RV12 690
UniProtKB:Q20JQ9 1955
UniProtKB:A0A0R4IUM7 1955
UniProtKB:A0A0R4IM09 711
UniProtKB:E7FFV4 304
UniProtKB:Q803T8 711
Transcripts
Genome Browsers
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