AutismKB 2.0

Annotation Details for SCN1A


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Basic Information Top
Gene Symbol:SCN1A ( FEB3,FEB3A,GEFSP2,HBSCI,NAC1,Nav1.1,SCN1,SMEI )
Gene Full Name: sodium channel, voltage-gated, type I, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6323; OMIM: 182389; Uniprot ID:SCN1A_HUMAN; ENSEMBL ID: ENSG00000144285; HGNC ID: 10585
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001518IEA-voltage-gated sodium channel complex-
GO:0005654IDA-nucleoplasm-
GO:0005886IBA-plasma membrane-
GO:0005886IDA-plasma membrane-
GO:0014704IEA-intercalated disc-
GO:0016604IDA-nuclear body-
GO:0030018ISS-Z disc-
GO:0030315IEA-T-tubule-
GO:0033268IEA-node of Ranvier-
GO:0043025IEA-neuronal cell body-
GO:0043194IEA-axon initial segment-
GO ID Evidence Qualifier GO_term References
GO:0005248IBA-voltage-gated sodium channel activity-
GO:0005248ISS-voltage-gated sodium channel activity-
GO:0005248NAS-voltage-gated sodium channel activity10742094
GO ID Evidence Qualifier GO_term References
GO:0006814ISS-sodium ion transport-
GO:0006814NAS-sodium ion transport10742094
GO:0007628IEA-adult walking behavior-
GO:0019227IEA-neuronal action potential propagation-
GO:0019228IBA-neuronal action potential-
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0035725IEA-sodium ion transmembrane transport-
GO:0050884IEA-neuromuscular process controlling posture-
GO:0050966ISS-detection of mechanical stimulus involved in sensory perception of pain-
GO:0060078IEA-regulation of postsynaptic membrane potential-
GO:0086002IMP-cardiac muscle cell action potential involved in contraction27207958
GO:0086010IBA-membrane depolarization during action potential-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SNTA1SCN1A1122289412493 Affinity Capture-Western; Protein-peptide
SNTA1SCN1A1125239412493 Affinity Capture-Western; Protein-peptide
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:98246
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-040426-751'