Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SCN1A (sodium channel, voltage-gated, type I, alpha subunit)

Identity

Other namesEIEE6
FEB3
FEB3A
FHM3
GEFSP2
HBSCI
NAC1
Nav1.1
SCN1
SMEI
HGNC (Hugo) SCN1A
LocusID (NCBI) 6323
Location 2q24.3
Location_base_pair Starts at 166845670 and ends at 166930149 bp from pter ( according to hg19-Feb_2009)
Note

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

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)SCN1A   10585
Entrez_Gene (NCBI)SCN1A  6323  sodium channel, voltage-gated, type I, alpha subunit
Cards
GeneCards (Weizmann)SCN1A
Ensembl (Hinxton)ENSG00000144285 [Gene_View]  chr2:166845670-166930149 [Contig_View]  SCN1A [Vega]
AceView (NCBI)SCN1A
Genatlas (Paris)SCN1A
SOURCE (Stanford)NM_001165963 NM_001165964 NM_001202435 NM_006920
Genomic and cartography
GoldenPath (UCSC)SCN1A  -  2q24.3   chr2:166845670-166930149 -  2q24.3   [Description]    (hg19-Feb_2009)
EnsemblSCN1A - 2q24.3 [CytoView]
Mapping of homologs : NCBISCN1A [Mapview]
OMIM182389   604233   604403   607208   609634   
Gene and transcription
Genbank (Entrez)AB093548 AB093549 AB098335 AF225985 AK094487
RefSeq transcript (SRS)NM_001165963 NM_001165964 NM_001202435 NM_006920
RefSeq transcript (Entrez)NM_001165963 NM_001165964 NM_001202435 NM_006920
RefSeq genomic (SRS)AC_000134 NC_000002 NC_018913 NG_011906 NT_005403 NW_001838860 NW_004078008
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_011906 NT_005403 NW_001838860 NW_004078008
Consensus coding sequences : CCDS (NCBI)SCN1A
Cluster EST : UnigeneHs.22654 [ SRS ] Hs.22654 [ NCBI ]
CGAP (NCI)Hs.22654
Alternative Splicing : Fast-db (Paris)GSHG0018121
Alternative Splicing GalleryENSG00000144285
Gene ExpressionSCN1A [ NCBI-GEO ]   SCN1A [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35498 (SRS) P35498 (Uniprot)
NextProtP35498
With graphics : InterProP35498
Splice isoforms : SwissVarP35498(Swissvar)
Domaine pattern : Prosite (SRS)IQ (PS50096)   
Domaine pattern : Prosite (Expaxy)IQ (PS50096)   
Domains : Interpro (SRS)DUF3451    Ion_trans_dom    IQ_motif_EF-hand-BS    Na_channel_a1su    Na_channel_asu    Na_trans_assoc   
Domains : Interpro (EBI)DUF3451    Ion_trans_dom    IQ_motif_EF-hand-BS    Na_channel_a1su    Na_channel_asu    Na_trans_assoc   
Related proteins : CluSTrP35498
Domain families : Pfam (SRS)DUF3451 (PF11933)    Ion_trans (PF00520)    Na_trans_assoc (PF06512)   
Domain families : Pfam (Sanger)DUF3451 (PF11933)    Ion_trans (PF00520)    Na_trans_assoc (PF06512)   
Domain families : Pfam (NCBI)pfam11933    pfam00520    pfam06512   
Domain families : Smart (EMBL)IQ (SM00015)  
DMDM6323
Blocks (Seattle)P35498
Human Protein AtlasENSG00000144285
HPRD01669
IPIIPI00018934   IPI00748990   IPI00917812   
Protein Interaction databases
DIP (DOE-UCLA)P35498
IntAct (EBI)P35498
FunCoupENSG00000144285
REACTOMESCN1A
Protein Interaction Database6323
BioGRIDSCN1A
InParanoidP35498
Interologous Interaction database P35498
IntegromeDBSCN1A
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SCN1A
SNP (GeneSNP Utah)SCN1A
SNP : HGBaseSCN1A
Genetic variants : HAPMAPSCN1A
Somatic Mutations in Cancer : COSMICSCN1A 
CONAN: Copy Number AnalysisSCN1A 
Mutations and Diseases : HGMDSCN1A
OMIM182389    604233    604403    607208    609634   
GENETests182389    604233    604403    607208    609634   
Disease Genetic AssociationSCN1A
Huge Navigator SCN1A [HugePedia]  SCN1A [HugeCancerGEM]
Genomic VariantsSCN1A  SCN1A [DGVbeta]
snp3D : Map Gene to Disease6323
General knowledge
Homologs : HomoloGeneSCN1A
Homology/Alignments : Family Browser (UCSC)SCN1A
Phylogenetic Trees/Animal Genes : TreeFamSCN1A
Chemical/Protein Interactions : CTD6323
Chemical/Pharm GKB GenePA301
Clinical trialSCN1A
Cancer Resource (Charite)ENSG00000144285
Ontology : AmiGOvoltage-gated sodium channel complex  voltage-gated sodium channel activity  sodium ion transport  adult walking behavior  intercalated disc  integral to membrane  neuronal action potential propagation  regulation of action potential in neuron  Z disc  T-tubule  sodium ion binding  node of Ranvier  neuronal cell body  axon initial segment  neuromuscular process controlling posture  
Ontology : EGO-EBIvoltage-gated sodium channel complex  voltage-gated sodium channel activity  sodium ion transport  adult walking behavior  intercalated disc  integral to membrane  neuronal action potential propagation  regulation of action potential in neuron  Z disc  T-tubule  sodium ion binding  node of Ranvier  neuronal cell body  axon initial segment  neuromuscular process controlling posture  
Other databases
Probes
Litterature
PubMed177 Pubmed reference(s) in Entrez
PubGeneSCN1A
iHOPSCN1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:47:02 CEST 2013
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