SCN1B

SCN1B
Identifiers
Aliases	SCN1B, ATFB13, BRGDA5, GEFSP1, sodium voltage-gated channel beta subunit 1, EIEE52, DEE52
External IDs	OMIM: 600235 MGI: 98247 HomoloGene: 810 GeneCards: SCN1B
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.11 Start 35,030,470 bp[1] End 35,040,449 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 B1|7 19.3 cM Start 30,815,949 bp[2] End 30,826,428 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle skeletal muscle tissue dorsolateral prefrontal cortex Brodmann area 9 superior frontal gyrus prefrontal cortex putamen caudate nucleus hippocampus proper substantia nigra Top expressed in superior frontal gyrus cerebellar cortex extensor digitorum longus muscle triceps brachii muscle temporal muscle sternocleidomastoid muscle entorhinal cortex digastric muscle lip tibialis anterior muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sodium channel activity voltage-gated ion channel activity voltage-gated sodium channel activity involved in Purkinje myocyte action potential voltage-gated sodium channel activity involved in cardiac muscle cell action potential voltage-gated sodium channel activity sodium channel regulator activity sodium channel inhibitor activity protein binding transmembrane transporter binding Cellular component integral component of membrane membrane sodium channel complex extracellular region voltage-gated sodium channel complex node of Ranvier intercalated disc T-tubule plasma membrane Biological process membrane depolarization during Purkinje myocyte cell action potential cardiac muscle contraction regulation of sodium ion transport sodium ion transport regulation of atrial cardiac muscle cell membrane depolarization membrane depolarization regulation of ion transmembrane transport cardiac muscle cell action potential involved in contraction ion transport cell adhesion regulation of sodium ion transmembrane transporter activity positive regulation of sodium ion transport response to pyrethroid regulation of heart rate by cardiac conduction chemical synaptic transmission corticospinal neuron axon guidance neuronal action potential propagation axon guidance cardiac conduction regulation of ventricular cardiac muscle cell membrane repolarization sodium ion transmembrane transport locomotion positive regulation of neuron projection development membrane depolarization during cardiac muscle cell action potential Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 7: 30.82 – 30.83 Mb PubMed search [3] [4]
Wikidata
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Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.^[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

Mutation in the SCN1B gene are associated with disorders such as Brugada syndrome, Dravet Syndrome, and GEFS.

See also

• Sodium channel

References

Further reading

External links

• GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
• SCN1B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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