SCN1A

GENERAL INFORMATION

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Gene name

SCN1A

Gene description

Sodium channel, voltage-gated, type I, alpha subunit

Protein class

Disease related genes
FDA approved drug targets
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Predicted localization

Membrane

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (cerebral cortex, fallopian tube, lung)
GTEx:Tissue enhanced (cerebellum, cerebral cortex)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (cerebral cortex, fallopian tube, lung)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum, cerebral cortex)

Organ

Expression



GENE INFORMATION

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Gene name

SCN1A (HGNC Symbol)

Synonyms

FEB3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI

Description

Sodium channel, voltage-gated, type I, alpha subunit (HGNC Symbol)

Entrez gene summary

The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.[provided by RefSeq, Jan 2011]

Chromosome

2

Cytoband

q24.3

Chromosome location (bp)

165989160 - 166128013

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000144285 (version 78.38)

Entrez gene

6323

UniProt

P35498 (UniProt - Evidence at protein level)

neXtProt

NX_P35498

Antibodypedia

SCN1A antibodies


PROTEIN BROWSER

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ENST00000303395
 
ENST00000375405
 
ENST00000409050
 
ENST00000423058
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SCN1A-001 ENSP00000303540
ENST00000303395
P35498
Show all »
Show » Show » 2009 229 No >9
SCN1A-002 ENSP00000364554
ENST00000375405
P35498
Show all »
Show » Show » 1998 227.8 No >9
SCN1A-003 ENSP00000386312
ENST00000409050
P35498
Show all »
Show » Show » 1981 226.2 No >9
SCN1A-201 ENSP00000407030
ENST00000423058
P35498
Show all »
Show » Show » 2009 229 No >9