SCN1B
entrez
6324
canonical
uniprot
Q07699
canonical
ensembl
ENSG00000105711
resolver
ensp
ENSP00000262631
resolver
ensp
ENSP00000396915
resolver
ensp
ENSP00000492247
resolver
enst
ENST00000596348
resolver
genesymbol
SCN1B
resolver
hgnc
HGNC:10586
resolver
uniprot
A0A1W2PR05
resolver
uniprot
Q5TZZ4
resolver
uniprot
Q6TN97
resolver
uniprot_entry
A0A1W2PR05_HUMAN
resolver
uniprot_entry
SCN1B_HUMAN
resolver
uniprot_sec
Q5TZZ4
resolver
uniprot_sec
Q6TN97
resolver
amino_acid_sequence
MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKRRSETNAETFTEWTFRQKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYECHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSEIMMYVLIVVLTIWLVAEMIYCYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE
uniprot
proteins
disease_involvement
DISEASE: Generalized epilepsy with febrile seizures plus 1 (GEFSP1) [MIM:604233]: 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:17928445, ECO:0000269|PubMed:21040232, ECO:0000269|PubMed:9697698}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Brugada syndrome 5 (BRGDA5) [MIM:612838]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269|PubMed:18464934}. Note=The gene represented in this entry may be involved in disease pathogenesis.; DISEASE: Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:19808477}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 52 (DEE52) [MIM:617350]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE52 inheritance is autosomal recessive. {ECO:0000269|PubMed:19710327, ECO:0000269|PubMed:23148524}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes (PubMed:40768348). Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient (PubMed:40768348). The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:14622265, PubMed:15525788, PubMed:18464934, PubMed:19710327, PubMed:29992740, PubMed:36696443, PubMed:8125980, PubMed:8394762). The accessory beta subunits participate in localization and functional modulation of the Nav channels (PubMed:15525788, PubMed:19710327, PubMed:29992740). Modulates the activity of SCN1A/Nav1.1, SCN2A/Nav1.2, SCN3A/Nav1.3, SCN4A/Nav1.4, SCN5A/Nav1.5, SCN8A/Nav1.6, SCN9A/Nav1.7 and SCN10A/Nav1.8 (PubMed:14622265, PubMed:15525788, PubMed:18464934, PubMed:30765606, PubMed:36696443, PubMed:8125980, PubMed:8394762). {ECO:0000269|PubMed:14622265, ECO:0000269|PubMed:15525788, ECO:0000269|PubMed:18464934, ECO:0000269|PubMed:19710327, ECO:0000269|PubMed:29992740, ECO:0000269|PubMed:30765606, ECO:0000269|PubMed:36696443, ECO:0000269|PubMed:8125980, ECO:0000269|PubMed:8394762}.; FUNCTION: [Isoform 2]: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth (PubMed:21994374). Has no regulatory function on the SCN2A sodium channel complex (PubMed:14622265). {ECO:0000269|PubMed:14622265, ECO:0000269|PubMed:21994374}.
uniprot
proteins
mass_dalton
24707
uniprot
proteins
protein_family
Sodium channel auxiliary subunit SCN1B (TC 8.A.17) family
uniprot
proteins
pubmed
14622265
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15525788
uniprot
proteins
pubmed
17928445
uniprot
proteins
pubmed
18464934
uniprot
proteins
pubmed
19522081
uniprot
proteins
pubmed
19710327
uniprot
proteins
pubmed
19808477
uniprot
proteins
pubmed
21040232
uniprot
proteins
pubmed
21994374
uniprot
proteins
pubmed
23148524
uniprot
proteins
pubmed
26900580
uniprot
proteins
pubmed
29992740
uniprot
proteins
pubmed
30190309
uniprot
proteins
pubmed
30765606
uniprot
proteins
pubmed
35277491
uniprot
proteins
pubmed
36696443
uniprot
proteins
pubmed
36823201
uniprot
proteins
pubmed
40768348
uniprot
proteins
pubmed
7851891
uniprot
proteins
pubmed
8125980
uniprot
proteins
pubmed
8394762
uniprot
proteins
pubmed
9697698
uniprot
proteins
sequence_length
218
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000269|PubMed:17928445, ECO:0000269|PubMed:19710327, ECO:0000269|PubMed:21994374, ECO:0000269|PubMed:29992740, ECO:0000269|PubMed:30190309, ECO:0000305|PubMed:8125980}; Single-pass type I membrane protein {ECO:0000269|PubMed:30190309, ECO:0000305|PubMed:8125980}. Perikaryon {ECO:0000250|UniProtKB:P97952}. Cell projection {ECO:0000250|UniProtKB:P97952}. Cell projection, axon {ECO:0000250|UniProtKB:Q00954}. Note=Detected at nodes of Ranvier on the sciatic nerve. {ECO:0000250|UniProtKB:Q00954}.; SUBCELLULAR LOCATION: [Isoform 2]: Perikaryon {ECO:0000269|PubMed:14622265}. Cell projection {ECO:0000269|PubMed:14622265}. Secreted {ECO:0000269|PubMed:21994374}. Note=Detected on Purkinje cells and their cell projections and on neuronal cell projections. {ECO:0000269|PubMed:14622265}.
uniprot
proteins
transmembrane_region
TRANSMEM 158..179; /note="Helical"; /evidence="ECO:0000305|PubMed:30190309, ECO:0007744|PDB:6AGF
uniprot
proteins