SCN1A (sodium voltage-gated channel alpha subunit 1)

2008-07-01 Affiliation

Identity

HGNC

SCN1A

LOCATION

2q24.3

LOCUSID

6323

ALIAS

DEE6,DEE6A,DEE6B,DRVT,EIEE6,FEB3,FEB3A,FHM3,GEFSP2,HBSCI,NAC1,Nav1.1,SCN1,SMEI

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6323
MIM: 182389
HGNC: 10585
Ensembl: ENSG00000144285

Variants:

dbSNP: 6323
ClinVar: 6323
TCGA: ENSG00000144285
COSMIC: SCN1A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000144285	ENST00000303395	P35498
ENSG00000144285	ENST00000375405	P35498
ENSG00000144285	ENST00000409050	P35498
ENSG00000144285	ENST00000635750	P35498
ENSG00000144285	ENST00000635776	A0A1B0GVX7
ENSG00000144285	ENST00000635893	A0A1B0GU68
ENSG00000144285	ENST00000636194	A0A1B0GUX7
ENSG00000144285	ENST00000636759	A0A1B0GWE6
ENSG00000144285	ENST00000637038	A0A1B0GUN7
ENSG00000144285	ENST00000637988	P35498
ENSG00000144285	ENST00000640036	A0A1W2PPJ3
ENSG00000144285	ENST00000641575	A0A286YF26
ENSG00000144285	ENST00000641603	A0A286YEQ8
ENSG00000144285	ENST00000641996	A0A286YFA8

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Muscle contraction	REACTOME	R-HSA-397014
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
L1CAM interactions	REACTOME	R-HSA-373760
Interaction between L1 and Ankyrins	REACTOME	R-HSA-445095
Cardiac conduction	REACTOME	R-HSA-5576891
Phase 0 - rapid depolarisation	REACTOME	R-HSA-5576892

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA10888	clobazam	Chemical	ClinicalAnnotation	associated		PD	21747585, 23859570, 25155934, 28753467
PA143485705	antiepileptics	Chemical	ClinicalAnnotation	associated		PD	21561445, 22292851, 22591328, 23859570, 25155934
PA444065	Epilepsy	Disease	ClinicalAnnotation	associated	PK	PD	17001291, 19289736, 21561445, 21747585, 22188362, 22292851, 22591328, 23859570, 25155934, 26314341, 26555147, 28753467
PA448785	carbamazepine	Chemical	ClinicalAnnotation, MultilinkAnnotation	associated	PK	PD	19289736, 21561445, 21747585, 22188362, 22292851, 22591328, 23859570, 25155934, 26314341, 26555147, 28753467
PA449533	ethosuximide	Chemical	ClinicalAnnotation	associated		PD	21747585, 23859570, 25155934, 28753467
PA450164	lamotrigine	Chemical	ClinicalAnnotation, VariantAnnotation	associated		PD	21747585, 23859570, 25155934, 28753467
PA450206	levetiracetam	Chemical	ClinicalAnnotation	associated		PD	21747585, 23859570, 25155934, 28753467
PA450732	oxcarbazepine	Chemical	ClinicalAnnotation	associated	PK	PD	21747585, 22591328, 23859570, 25155934, 26555147, 28753467
PA450947	phenytoin	Chemical	ClinicalAnnotation	associated		PD	17001291
PA451846	valproic acid	Chemical	ClinicalAnnotation	associated		PD	21747585, 23859570, 25155934, 28753467

References

Pubmed ID	Year	Title	Citations
17537961	2007	Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.	260
16054936	2005	Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.	135
20194124	2010	NaV1.1 channels and epilepsy.	120
12086636	2002	Molecular basis of an inherited epilepsy.	111
12610651	2003	Sodium channels SCN1A, SCN2A and SCN3A in familial autism.	91
17347258	2007	The spectrum of SCN1A-related infantile epileptic encephalopathies.	89
15880351	2005	SCN1A mutations and epilepsy.	69
19214208	2009	Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.	69
15525788	2004	A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.	66
18930999	2009	Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.	66

Citation

Dessen P

SCN1A (sodium voltage-gated channel alpha subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50222/scn1a