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SCN1B - Wikipedia

From Wikipedia, the free encyclopedia

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; OMA:SCN1B - orthologs

Gene location (Human)

Chr.	Chromosome 19 (human)^[1]

Band	19q13.11	Start	35,030,470 bp^[1]
Band	19q13.11	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]
Band	7 B1\|7 19.3 cM	End	30,826,428 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (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	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

View/Edit Human

View/Edit Mouse

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.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000105711 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000019194 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta".

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.

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺: Proton channel	HVCN1
M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm: Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

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Categories:

Hidden categories:

Clinical significance

See also

References

Further reading

External links