Aliases for SCN1A Gene
Aliases for SCN1A Gene
- Sodium Voltage-Gated Channel Alpha Subunit 1 2 3 5
- Sodium Channel, Voltage-Gated, Type I, Alpha Subunit 2 3
- Voltage-Gated Sodium Channel Subunit Alpha Nav1.1 3 4
- Sodium Channel Protein Type I Subunit Alpha 3 4
- SCN1 3 4
- NAC1 3 4
- Sodium Channel, Voltage-Gated, Type I, Alpha Polypeptide 3
- Sodium Channel, Voltage Gated, Type I Alpha Subunit 2
- Sodium Channel Voltage Gated Type 1 Alpha Subunit 3
- Sodium Channel Protein, Brain I Alpha Subunit 3
- Sodium Channel Protein Brain I Subunit Alpha 4
External Ids for SCN1A Gene
- HGNC: 10585
- Entrez Gene: 6323
- Ensembl: ENSG00000144285
- OMIM: 182389
- UniProtKB: P35498
Previous HGNC Symbols for SCN1A Gene
- SCN1
- FEB3
Previous GeneCards Identifiers for SCN1A Gene
- GC02M164900
- GC02M165387
- GC02M166809
- GC02M167048
- GC02M166671
- GC02M166553
- GC02M158727
Summaries for SCN1A Gene
-
Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. 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, Oct 2015]
GeneCards Summary for SCN1A Gene
SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1) is a Protein Coding gene. Diseases associated with SCN1A include Epileptic Encephalopathy, Early Infantile, 6 and Migraine, Familial Hemiplegic, 3. Among its related pathways are Cardiac conduction and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is SCN2A.
UniProtKB/Swiss-Prot for SCN1A Gene
-
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli.
-
Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear.
Additional gene information for SCN1A Gene
- Monarch Initiative
- Search for SCN1A at DataMed
- Search for SCN1A at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCN1A Gene
Genomics for SCN1A Gene
GeneHancer (GH) Regulatory Elements for SCN1A Gene
Regulatory Element Products
Genomic Locations for SCN1A Gene
- chr2:165,984,641-166,149,272
- (GRCh38/hg38)
- Size:
- 164,632 bases
- Orientation:
- Minus strand
- chr2:166,845,670-167,005,642
- (GRCh37/hg19)
Genomic View for SCN1A Gene
- Cytogenetic band:
-
- 2q24.3 by Ensembl
- 2q24.3 by Entrez Gene
- 2q24.3 by HGNC


RefSeq DNA sequence for SCN1A Gene
Proteins for SCN1A Gene
-
Protein details for SCN1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35498-SCN1A_HUMAN
- Recommended name:
- Sodium channel protein type 1 subunit alpha
- Protein Accession:
- P35498
- E9PG49
- Q16172
- Q585T7
- Q8IUJ6
- Q96LA3
- Q9C008
Protein attributes for SCN1A Gene
- Size:
- 2009 amino acids
- Molecular mass:
- 228972 Da
- Quaternary structure:
-
- The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1 (SCN1B), beta-2 (SCN2B), beta-3 (SCN3B) and/or beta-4 (SCN4B). Beta-1 (SCN1B) and beta-3 (SCN3B) are non-covalently associated with alpha, while beta-2 (SCN2B) and beta-4 (SCN4B) are covalently linked by disulfide bonds. Interacts with FGF13 (PubMed:21566136). Interacts with SCN1B (PubMed:17928445, PubMed:15525788). Interacts with the conotoxin GVIIJ (PubMed:24497506). Interacts with the spider beta/delta-theraphotoxin-Pre1a (PubMed:28428547).
Protein Expression for SCN1A Gene
Post-translational modifications for SCN1A Gene
- Phosphorylation at Ser-1516 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.
- Glycosylation at posLast=211211, isoforms=2, 3284, isoforms=2, 3295, isoforms=2, 3301, isoforms=2, 3306, posLast=338338, isoforms=2, 31378, isoforms=2, 31392, and posLast=14031403
Other Protein References for SCN1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001159435.1
- NP_001159436.1
- NP_001189364.1
- NP_001340877.1
- NP_001340878.1
- NP_001340879.1
- NP_001340880.1
- NP_001340881.1
- NP_001340883.1
- NP_001340884.1
- NP_001340886.1
- NP_001340887.1
- NP_001340889.1
- NP_001340890.1
- NP_008851.3
- XP_011509904.1
- XP_011509906.1
- XP_011509907.1
- XP_011509908.1
- XP_016860133.1
- XP_016860134.1
- XP_016860135.1
- XP_016860136.1
- XP_016860137.1
- XP_016860138.1
- XP_016860139.1
- XP_016860140.1
- XP_016860141.1
- XP_016860142.1
- XP_016860143.1
Antibody Products
- Cell Signaling Technology (CST) Antibodies for SCN1A (SCN1A)
-
Custom Antibody ServicesOriGene Antibodies for SCN1A
- Novus Biologicals Antibodies for SCN1A
-
Abcam antibodies for SCN1A
- Invitrogen Antibodies for SCN1A
- Search GeneTex for Antibodies for SCN1A
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SCN1A
- Origene Custom Protein Services for SCN1A
- Novus Biologicals proteins for SCN1A
- antibodies-online: Search results for 5 available NACC1 Proteins ranked by validation data
- Compare Top NACC1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for SCN1A
-
Abcam proteins for SCN1A
Assay Products
No data available for DME Specific Peptides for SCN1A Gene
Domains & Families for SCN1A Gene
Gene Families for SCN1A Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
- Voltage-gated ion channels
Protein Domains for SCN1A Gene
Suggested Antigen Peptide Sequences for SCN1A Gene
- GenScript: Design optimal peptide antigens:
-
- Sodium channel voltage gated type 1 alpha subunit transcript variant 2 (F8T7W4_HUMAN)
- Sodium channel voltage gated type 1 alpha subunit transcript variant 2 (F8T7W5_HUMAN)
- Sodium channel voltage gated type 1 alpha subunit transcript variant 2 (F8T7W6_HUMAN)
- Sodium channel voltage gated type 1 alpha subunit transcript variant 2 (F8T7W7_HUMAN)
- Sodium channel voltage gated type 1 alpha subunit transcript variant 2 (F8T7W8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P35498UniProtKB/Swiss-Prot:
SCN1A_HUMAN :- The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
- Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.1/SCN1A subfamily.
- Domain:
-
- The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
- The S3b-S4 and S1-S2 loops of repeat IV are targeted by H.maculata toxins Hm1a and Hm1b, leading to inhibit fast inactivation of Nav1.1/SCN1A. Selectivity for H.maculata toxins Hm1a and Hm1b depends on S1-S2 loops of repeat IV.
- Family:
-
- Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.1/SCN1A subfamily.
Function for SCN1A Gene
Molecular function for SCN1A Gene
- GENATLAS Biochemistry:
- sodium voltage-gated channel,type I,alpha polypeptide,expressed in brain
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inactivation of this channel is specifically inhibited by the spider toxins Hm1a and Hm1b (H.maculata, AC P60992 and AC P0DOC5) in somatosensory neurons to elicit acute pain and mechanical allodynia.
- UniProtKB/Swiss-Prot Function:
- Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli.
Phenotypes From GWAS Catalog for SCN1A Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005216 | ion channel activity | IEA | -- |
GO:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005248 | voltage-gated sodium channel activity | NAS | 10742094 |
GO:0005272 | sodium channel activity | IEA | -- |
Phenotypes for SCN1A Gene
- MGI mutant phenotypes for SCN1A:
- inferred from 9 alleles
- GenomeRNAi human phenotypes for SCN1A:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Lamellipodia cells
- Decreased viability in esophageal squamous lineage
- Increased shRNA abundance (Z-score > 2)
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability after sindbis virus (SIN) dsTE12Q infection
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
Animal Models for SCN1A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SCN1A
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SCN1A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SCN1A gene
- Search ViGene Biosciences for SCN1A
CRISPR Products
-
OriGene CRISPR knockouts for SCN1A
- genomics-online: gRNA clones - Search results for available NACC1 gene related products
- Applied Biological Materials CRISPR for SCN1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SCN1A
- GenScript: Design CRISPR guide RNA sequences for SCN1A
miRNA for SCN1A Gene
- miRTarBase miRNAs that target SCN1A
-
- hsa-mir-93-3p (MIRT038738)
- hsa-mir-576-5p (MIRT613593)
- hsa-mir-4263 (MIRT613594)
- hsa-mir-4799-5p (MIRT613595)
- hsa-mir-6749-3p (MIRT613596)
- hsa-mir-4509 (MIRT613597)
- hsa-mir-4744 (MIRT613598)
- hsa-mir-6756-3p (MIRT613599)
- hsa-mir-3127-3p (MIRT613600)
- hsa-mir-4668-3p (MIRT613601)
- hsa-mir-3613-3p (MIRT613602)
- hsa-mir-548c-3p (MIRT613603)
- hsa-mir-7161-5p (MIRT627647)
- hsa-mir-548u (MIRT627648)
- hsa-mir-4783-5p (MIRT786755)
- hsa-mir-518b (MIRT787199)
- hsa-mir-574-5p (MIRT787880)
- hsa-mir-6867-5p (MIRT789218)
- hsa-mir-933 (MIRT789962)
miRNA Products
- Search ViGene Biosciences for SCN1A
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SCN1A
- Browse OriGene Inhibitory RNA Products For SCN1A
- genomics-online: shRNA clones - Search results for available SCN1A gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SCN1A gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for SCN1A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SCN1A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available NACC1 gene related products
- orf clones - Search results for available NACC1 gene related products
- Applied Biological Materials Clones for SCN1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SCN1A
-
ViGene Biosciences adenoviral particle packaged cDNA for SCN1A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SCN1A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SCN1A gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SCN1A Gene
Localization for SCN1A Gene
Subcellular locations from UniProtKB/Swiss-Prot for SCN1A Gene
- Cell membrane; Multi-pass membrane protein.
- Plasma membrane (3)
- Nuclear bodies (2)
- Nucleoplasm (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001518 | voltage-gated sodium channel complex | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005886 | plasma membrane | IBA,IDA | -- |
GO:0014704 | intercalated disc | IEA | -- |
GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for SCN1A Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
2 | Neuropathic Pain-Signaling in Dorsal Horn Neurons | ||
3 | Developmental Biology |
.51
|
|
4 | Cardiac conduction | ||
5 | Circadian entrainment |
Pathways by source for SCN1A Gene
1 Cell Signaling Technology pathway for SCN1A Gene
7 Reactome pathways for SCN1A Gene
1 KEGG pathway for SCN1A Gene
7 Qiagen pathways for SCN1A Gene
Interacting Proteins for SCN1A Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006810 | transport | IEA | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | NAS | 10742094 |
GO:0007628 | adult walking behavior | IEA | -- |
GO:0019227 | neuronal action potential propagation | IEA | -- |
No data available for SIGNOR curated interactions for SCN1A Gene
Drugs & Compounds for SCN1A Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phenytoin | Approved, Vet_approved | Pharma | Pore Blocker, Target, inhibitor, blocker | 79 | ||
Nitrazepam | Approved | Pharma | Target, other/unknown, antagonist | 8 | ||
Phenacemide | Approved | Pharma | Target, inhibitor, blocker | 0 | ||
Topiramate | Approved | Pharma | Target, inhibitor, antagonist | GluR5 receptor antagonist,anticonvulsant, GluR5 antagonist; inhibits carbonic anhydrase (CA) II and IV | 257 | |
Zonisamide | Approved, Investigational | Pharma | Target, inhibitor, blocker | Antiepileptic with anticonvulsant and mechanistic effect | 69 |
(3) Tocris Compounds for SCN1A Gene
Compound | Action | Cas Number |
---|---|---|
Amiloride hydrochloride | Na+ channel blocker; also I2 imidazoline ligand | 2016-88-8 |
Carbamazepine | Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant | 298-46-4 |
Vinpocetine | Na+ channel blocker | 42971-09-5 |
Transcripts for SCN1A Gene
mRNA/cDNA for SCN1A Gene
- (30) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (32) Selected AceView cDNA sequences:
- (22) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SCN1A Gene
- Sodium channel, voltage-gated, type I, alpha subunit:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SCN1A
- genomics-online: gRNA clones - Search results for available NACC1 gene related products
- Applied Biological Materials CRISPR for SCN1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SCN1A
- GenScript: Design CRISPR guide RNA sequences for SCN1A
miRNA Products
- Search ViGene Biosciences for SCN1A
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SCN1A
- Browse OriGene Inhibitory RNA Products For SCN1A
- genomics-online: shRNA clones - Search results for available SCN1A gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SCN1A gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for SCN1A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SCN1A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available NACC1 gene related products
- orf clones - Search results for available NACC1 gene related products
- Applied Biological Materials Clones for SCN1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SCN1A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Oligodendrocyte Precursor Cells Forebrain White Matter
mRNA differential expression in normal tissues according to GTEx for SCN1A Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCN1A Gene
NURSA nuclear receptor signaling pathways regulating expression of SCN1A Gene:
SCN1ASOURCE GeneReport for Unigene cluster for SCN1A Gene:
Hs.22654Evidence on tissue expression from TISSUES for SCN1A Gene
- Nervous system(4.8)
- Muscle(2.1)
- Heart(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SCN1A Gene
- ectoderm
- endoderm
- mesoderm
- digestive
- immune
- nervous
- skeletal muscle
- skeleton
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- skull
- chest wall
- esophagus
- abdominal wall
- stomach
- lower limb
- upper limb
- blood
- peripheral nerve
- peripheral nervous system
- spinal cord
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for SCN1A
- genomics-online: primer clones - Search results for available NACC1 gene related products
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SCN1A Gene
Orthologs for SCN1A Gene
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SCN1A 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | SCN1A 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | SCN1A 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | SCN1A 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Scn1a 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Scn1a 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | SCN1A 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SCN1A 33 |
|
||
lizard (Anolis carolinensis) |
Reptilia | SCN1A 34 |
|
OneToOne | |
zebrafish (Danio rerio) |
Actinopterygii | scn1lab 34 |
|
OneToMany |
- Species where no ortholog for SCN1A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for SCN1A Gene
Paralogs for SCN1A Gene
(17) SIMAP similar genes for SCN1A Gene using alignment to 6 proteins:
Variants for SCN1A Gene
SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1012929478 | uncertain-significance, Familial hemiplegic migraine, Seizure Disorders | 165,990,333(-) | A/T | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
rs10497275 | likely-benign, Seizure Disorders, Familial hemiplegic migraine | 165,990,220(-) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
rs1057517958 | likely-pathogenic, not provided, encephalopathy, early infantile, 6 (EIEE6) [MIM:607208] | 165,991,711(-) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs1057518671 | likely-pathogenic, uncertain-significance, Severe myoclonic epilepsy in infancy | 165,991,924(-) | A/G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs1057518703 | uncertain-significance, Generalized epilepsy with febrile seizures plus, type 2, Severe myoclonic epilepsy in infancy | 166,044,003(-) | C/T | 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1181e212 | CNV | loss | 25503493 |
dgv2085n106 | CNV | deletion | 24896259 |
dgv63n17 | CNV | loss | 16327808 |
esv2357676 | CNV | deletion | 18987734 |
esv2721076 | CNV | deletion | 23290073 |
esv2721077 | CNV | deletion | 23290073 |
esv2721078 | CNV | deletion | 23290073 |
esv2721079 | CNV | deletion | 23290073 |
esv2721080 | CNV | deletion | 23290073 |
esv3560478 | CNV | deletion | 23714750 |
esv3584150 | CNV | loss | 25503493 |
esv3593246 | CNV | gain | 21293372 |
nsv1127778 | CNV | deletion | 24896259 |
nsv1143007 | CNV | deletion | 24896259 |
nsv1149312 | CNV | insertion | 26484159 |
nsv1153442 | CNV | deletion | 26484159 |
nsv459936 | CNV | loss | 19166990 |
nsv478361 | CNV | novel sequence insertion | 20440878 |
nsv583584 | CNV | loss | 21841781 |
nsv834445 | CNV | gain+loss | 17160897 |
nsv956697 | CNV | deletion | 24416366 |
nsv961904 | CNV | duplication | 23825009 |
Additional Variant Information for SCN1A Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN1A Gene
Disorders for SCN1A Gene

(47) MalaCards diseases for SCN1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
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epileptic encephalopathy, early infantile, 6 |
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migraine, familial hemiplegic, 3 |
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generalized epilepsy with febrile seizures plus, type 2 |
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febrile seizures |
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epilepsy, idiopathic generalized |
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UniProtKB/Swiss-Prot
SCN1A_HUMAN- Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]: A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core EIEE6. EIEE6 is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. {ECO:0000269 PubMed:11359211, ECO:0000269 PubMed:12083760, ECO:0000269 PubMed:12566275, ECO:0000269 PubMed:12754708, ECO:0000269 PubMed:12821740, ECO:0000269 PubMed:14504318, ECO:0000269 PubMed:14672992, ECO:0000269 PubMed:14738421, ECO:0000269 PubMed:15087100, ECO:0000269 PubMed:15944908, ECO:0000269 PubMed:16122630, ECO:0000269 PubMed:16458823, ECO:0000269 PubMed:16713920, ECO:0000269 PubMed:17054684, ECO:0000269 PubMed:17054685, ECO:0000269 PubMed:17129991, ECO:0000269 PubMed:17347258, ECO:0000269 PubMed:17561957, ECO:0000269 PubMed:18413471, ECO:0000269 PubMed:18639757, ECO:0000269 PubMed:18930999, ECO:0000269 PubMed:19522081, ECO:0000269 PubMed:19563458, ECO:0000269 PubMed:19589774, ECO:0000269 PubMed:19783390, ECO:0000269 PubMed:20110217, ECO:0000269 PubMed:20431604, ECO:0000269 PubMed:20452746, ECO:0000269 PubMed:20522430, ECO:0000269 PubMed:20729507, ECO:0000269 PubMed:21248271, ECO:0000269 PubMed:21864321, ECO:0000269 PubMed:22092154, ECO:0000269 PubMed:22612257, ECO:0000269 PubMed:23195492, ECO:0000269 PubMed:23662938, ECO:0000269 PubMed:23708187, ECO:0000269 PubMed:25818041, ECO:0000269 PubMed:26993267, ECO:0000269 PubMed:27864847, ECO:0000269 PubMed:28544625}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Febrile seizures, familial, 3A (FEB3A) [MIM:604403]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269 PubMed:16326807, ECO:0000269 PubMed:19522081}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269 PubMed:10742094, ECO:0000269 PubMed:11254444, ECO:0000269 PubMed:11254445, ECO:0000269 PubMed:11524484, ECO:0000269 PubMed:11756608, ECO:0000269 PubMed:12535936, ECO:0000269 PubMed:12576172, ECO:0000269 PubMed:12919402, ECO:0000269 PubMed:14672992, ECO:0000269 PubMed:15525788, ECO:0000269 PubMed:15694566, ECO:0000269 PubMed:15715999, ECO:0000269 PubMed:16525050, ECO:0000269 PubMed:17347258, ECO:0000269 PubMed:17507202, ECO:0000269 PubMed:17561957, ECO:0000269 PubMed:17927801, ECO:0000269 PubMed:17928445, ECO:0000269 PubMed:18251839, ECO:0000269 PubMed:18413471, ECO:0000269 PubMed:18566737, ECO:0000269 PubMed:19339291, ECO:0000269 PubMed:19464195, ECO:0000269 PubMed:19522081, ECO:0000269 PubMed:20117752, ECO:0000269 PubMed:20550552, ECO:0000269 PubMed:20600615, ECO:0000269 PubMed:20729507, ECO:0000269 PubMed:21248271, ECO:0000269 PubMed:21864321}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]: A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures. {ECO:0000269 PubMed:12566275, ECO:0000269 PubMed:16210358, ECO:0000269 PubMed:17507202, ECO:0000269 PubMed:23195492, ECO:0000269 PubMed:23708187}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]: A subtype of migraine associated with transient blindness in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269 PubMed:16054936, ECO:0000269 PubMed:17397047, ECO:0000269 PubMed:18021921, ECO:0000269 PubMed:19332696}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=SCN1A mutations may be involved in Panayiotopoulos syndrome, a benign age-related focal seizure disorder occurring in early and mid-childhood. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms, and by an electroencephalogram that shows shifting and/or multiple foci, often with occipital predominance. Autonomic seizures in Panayiotopoulos syndrome consist of episodes of disturbed autonomic function with emesis as the predominant symptom. Cardiorespiratory arrest is exceptional. {ECO:0000269 PubMed:17679682, ECO:0000269 PubMed:19339291, ECO:0000269 PubMed:19522081}.
Additional Disease Information for SCN1A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SCN1A Gene
Publications for SCN1A Gene
- Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (PMID: 18930999) Depienne C … LeGuern E (Journal of medical genetics 2009) 3 4 22 44 58
- The spectrum of SCN1A-related infantile epileptic encephalopathies. (PMID: 17347258) Harkin LA … Scheffer IE (Brain : a journal of neurology 2007) 3 4 22 44 58
- A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. (PMID: 17001291) Tate SK … Liou HH (Pharmacogenetics and genomics 2006) 3 22 25 44 58
- Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. (PMID: 12821740) Nabbout R … Zara F (Neurology 2003) 3 4 22 44 58
- A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. (PMID: 11254445) Escayg A … Meisler MH (American journal of human genetics 2001) 3 4 22 44 58
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