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SCN1B

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
SCN1B
Identifiers
AliasesSCN1B, ATFB13, BRGDA5, GEFSP1, sodium voltage-gated channel beta subunit 1, EIEE52, DEE52
External IDsOMIM:600235;MGI:98247;HomoloGene:810;GeneCards:SCN1B;OMA:SCN1B - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for SCN1B
Genomic location for SCN1B
Band19q13.11Start35,030,470bp[1]
End35,040,449bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for SCN1B
Genomic location for SCN1B
Band7 B1|7 19.3 cMStart30,815,949bp[2]
End30,826,428bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • primary visual cortex

  • right hemisphere of cerebellum

  • gastrocnemius muscle

  • right frontal lobe

  • muscle of thigh

  • skeletal muscle tissue

  • dorsolateral prefrontal cortex

  • Brodmann area 9

  • superior frontal gyrus

  • prefrontal cortex
Top expressed in
  • superior frontal gyrus

  • primary visual cortex

  • muscle of thigh

  • dentate gyrus of hippocampal formation granule cell

  • cerebellar cortex

  • extensor digitorum longus muscle

  • CA3 field

  • perirhinal cortex

  • triceps brachii muscle

  • temporal muscle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6324

20266

Ensembl

ENSG00000105711

ENSMUSG00000019194

UniProt

Q07699

P97952

RefSeq (mRNA)

NM_001037
NM_199037
NM_001321605

NM_011322

RefSeq (protein)

NP_001028
NP_001308534
NP_950238

NP_035452
NP_001389263

Location (UCSC)Chr 19: 35.03 – 35.04 MbChr 7: 30.82 – 30.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium channel subunit beta-1 is aprotein that in humans is encoded by theSCN1Bgene.[5][6]

Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.[supplied by OMIM][6]

Clinical significance

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Mutation in the SCN1B gene are associated with disorders such asBrugada syndrome,Dravet Syndrome, andGEFS.

See also

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References

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  1. ^abcGRCh38: Ensembl release 89: ENSG00000105711Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000019194Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF (Sep 1993). "The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain".Hum Mol Genet.2 (6):745–9.doi:10.1093/hmg/2.6.745.PMID 8394762.
  6. ^ab"Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta".

Further reading

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External links

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This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl:Chloride channel
H+:Proton channel
M+:CNG cation channel
M+:TRP cation channel
H2O (+solutes):Porin
Cytoplasm:Gap junction
By gating mechanism
Ion channel class
see alsodisorders


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