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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

MGC:55600 (6 images)

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	scn1laa^{sa1674/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
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 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 InterPro	1955
UniProtKB:A0A0R4IUM7 InterPro	1955

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	scn1laa-201 (1) Ensembl	Havana	1053 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	scn1laa-203 (1) Ensembl	Havana	6421 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	scn1laa-204 (1) Ensembl	Havana	1255 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	ottdart00000052047 (1) Ensembl	Havana	697 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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