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UniProtKB - Q07699 (SCN1B_HUMAN)

Protein

Sodium channel subunit beta-1

Gene

SCN1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons.1 Publication
Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ion channel binding Source: GO_Central
  • sodium channel inhibitor activity Source: BHF-UCL
  • sodium channel regulator activity Source: BHF-UCL
  • voltage-gated ion channel activity Source: UniProtKB-KW
  • voltage-gated sodium channel activity Source: BHF-UCL
  • voltage-gated sodium channel activity involved in cardiac muscle cell action potential Source: BHF-UCL
  • voltage-gated sodium channel activity involved in Purkinje myocyte action potential Source: BHF-UCL
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel, Sodium channel, Voltage-gated channel
Biological processCell adhesion, Ion transport, Sodium transport, Transport
LigandSodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sodium channel subunit beta-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SCN1B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000105711.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:10586 SCN1B

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600235 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q07699

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini19 – 160ExtracellularSequence analysisAdd BLAST142
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei161 – 182HelicalSequence analysisAdd BLAST22
Topological domaini183 – 218CytoplasmicSequence analysisAdd BLAST36

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Generalized epilepsy with febrile seizures plus 1 (GEFS+1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:604233
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010165121C → W in GEFS+1; can rescue the loss of function and defective trafficking to cell membrane phenotype of the SCN1A variant Thr-1852. 2 PublicationsCorresponds to variant dbSNP:rs104894718EnsemblClinVar.1
Natural variantiVAR_067341125R → L in GEFS+1. 1 PublicationCorresponds to variant dbSNP:rs759839781Ensembl.1
Brugada syndrome 5 (BRGDA5)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA 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.
See also OMIM:612838
Atrial fibrillation, familial, 13 (ATFB13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615377
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07021985R → H in ATFB13; the mutant results in highly reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs16969925EnsemblClinVar.1
Natural variantiVAR_070220153D → N in ATFB13; the mutant results in reduced sodium currents when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs72550247EnsemblClinVar.1
Epileptic encephalopathy, early infantile, 52 (EIEE52)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. EIEE52 inheritance is autosomal recessive.
See also OMIM:617350
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078019106I → T in EIEE52; unknown pathological significance. 1 Publication1
Natural variantiVAR_078020125R → C in EIEE52; severely decreased channel localization at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs1135401736Ensembl.1

Keywords - Diseasei

Atrial fibrillation, Brugada syndrome, Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		6324

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SCN1B

MalaCards human disease database

More...MalaCardsi		SCN1B
MIMi604233 phenotype
612838 phenotype
615377 phenotype
617350 phenotype

Open Targets

More...OpenTargetsi		ENSG00000105711

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		130 Brugada syndrome
33069 Dravet syndrome
334 Familial atrial fibrillation
871 Familial progressive cardiac conduction defect
36387 Generalized epilepsy with febrile seizures-plus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA302

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00313 Valproic Acid
DB00909 Zonisamide

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SCN1B

Domain mapping of disease mutations (DMDM)

More...DMDMi		1705868

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 18Sequence analysisAdd BLAST18
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001492619 – 218Sodium channel subunit beta-1Add BLAST200

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi40 ↔ 121By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi93N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi110N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi114N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q07699

PeptideAtlas

More...PeptideAtlasi		Q07699

PRoteomics IDEntifications database

More...PRIDEi		Q07699

ProteomicsDB human proteome resource

More...ProteomicsDBi		58527
58528 [Q07699-2]

PTM databases

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q07699

Miscellaneous databases

CutDB - Proteolytic event database

More...PMAP-CutDBi		Q07699

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

The overall expression of isoforms 1 and 2 is very similar. Isoform 1 is abundantly expressed in skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low level in heart, placenta, lung, liver, kidney and pancreas. In brain, isoform 2 is most abundant in the cerebellum, followed by the cerebral cortex and occipital lobe, while isoform 1 levels are higher in the cortex compared to the cerebellum. Isoform 2 is expressed in many regions of the brain, including cerebellar Purkinje cells, cortex pyramidal neurons and many of the neuronal fibers throughout the brain (at protein level). Also detected in dorsal root ganglion, in fibers of the spinal nerve and in cortical neurons and their processes (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000105711 Expressed in 86 organ(s), highest expression level in right hemisphere of cerebellum

CleanEx database of gene expression profiles

More...CleanExi		HS_SCN1B

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q07699 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q07699 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1, beta-2 and beta-3. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 is covalently linked by disulfide bonds. Beta-1 or beta-3 subunits associate with NFASC. Associates with SCN10A (By similarity). Interacts with SCN1A (PubMed:15525788, PubMed:17928445). Interacts with SCN8A (PubMed:26900580).By similarity3 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112229, 12 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000396915

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1218
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6AGFelectron microscopy3.20B1-218[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q07699

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini22 – 150Ig-like C2-typeAdd BLAST129

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the sodium channel auxiliary subunit SCN1B (TC 8.A.17) family. [View classification]Curated

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IVI4 Eukaryota
ENOG4111MS0 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018560

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000276881

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG063316

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q07699

KEGG Orthology (KO)

More...KOi		K04845

Identification of Orthologs from Complete Genome Data

More...OMAi		DNCAGVQ

Database of Orthologous Groups

More...OrthoDBi		1124079at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q07699

TreeFam database of animal gene trees

More...TreeFami		TF332097

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013106 Ig_V-set
IPR027098 Na_channel_b1/b3

The PANTHER Classification System

More...PANTHERi		PTHR10546 PTHR10546, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07686 V-set, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48726 SSF48726, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q07699-1) [UniParc]FASTAAdd to basket
Also known as: Beta-1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGRLLALVVG AALVSSACGG CVEVDSETEA VYGMTFKILC ISCKRRSETN 
        60         70         80         90        100
AETFTEWTFR QKGTEEFVKI LRYENEVLQL EEDERFEGRV VWNGSRGTKD 
       110        120        130        140        150
LQDLSIFITN VTYNHSGDYE CHVYRLLFFE NYEHNTSVVK KIHIEVVDKA 
       160        170        180        190        200
NRDMASIVSE IMMYVLIVVL TIWLVAEMIY CYKKIAAATE TAAQENASEY 
       210 
LAITSESKEN CTGVQVAE
Length:218
Mass (Da):24,707
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i09B812FA3F9E9018
GO
Isoform 2 (identifier: Q07699-2) [UniParc]FASTAAdd to basket
Also known as: Beta-1B, beta1A, beta1B

The sequence of this isoform differs from the canonical sequence as follows:
     150-218: ANRDMASIVS...ENCTGVQVAE → GESGAACPFT...IIRCVSRGVV

Note: Due to intron 3 retention.
Show »
Length:268
Mass (Da):30,440
Checksum:iD9A001E676C0FAD1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DI92B4DI92_HUMAN
Sodium channel subunit beta-1
SCN1B
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PR05A0A1W2PR05_HUMAN
Sodium channel subunit beta-1
SCN1B
185Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PS68A0A1W2PS68_HUMAN
Sodium channel subunit beta-1
SCN1B
235Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06252325D → N Probable disease-associated mutation found in a patient with idiopathic childhood epilepsy; de novo mutation. 1 PublicationCorresponds to variant dbSNP:rs786205837EnsemblClinVar.1
Natural variantiVAR_07021985R → H in ATFB13; the mutant results in highly reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs16969925EnsemblClinVar.1
Natural variantiVAR_06252487E → Q Probable disease-associated mutation found in a patient with non-specific cardiac conduction defects. 1 PublicationCorresponds to variant dbSNP:rs121434627EnsemblClinVar.1
Natural variantiVAR_078019106I → T in EIEE52; unknown pathological significance. 1 Publication1
Natural variantiVAR_010165121C → W in GEFS+1; can rescue the loss of function and defective trafficking to cell membrane phenotype of the SCN1A variant Thr-1852. 2 PublicationsCorresponds to variant dbSNP:rs104894718EnsemblClinVar.1
Natural variantiVAR_078020125R → C in EIEE52; severely decreased channel localization at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs1135401736Ensembl.1
Natural variantiVAR_067341125R → L in GEFS+1. 1 PublicationCorresponds to variant dbSNP:rs759839781Ensembl.1
Natural variantiVAR_062525138V → I1 PublicationCorresponds to variant dbSNP:rs72558029EnsemblClinVar.1
Natural variantiVAR_070220153D → N in ATFB13; the mutant results in reduced sodium currents when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs72550247EnsemblClinVar.1
Natural variantiVAR_062526208K → I1 PublicationCorresponds to variant dbSNP:rs780958012EnsemblClinVar.1
Natural variantiVAR_062527211C → Y1 PublicationCorresponds to variant dbSNP:rs150721582EnsemblClinVar.1
Natural variantiVAR_062528213G → D1 PublicationCorresponds to variant dbSNP:rs201209882EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_041982150 – 218ANRDM…VQVAE → GESGAACPFTVTHRRARWRD RWQAVDRTGWLCAWPANRPQ QRAEGEGSSPSCPLQLWPLF LSSPRRGQSMPVPHRRSGYR TQLCHLCCMTSGRCLLSLSQ RVVLGLPGIIIRCVSRGVV in isoform 2. 1 PublicationAdd BLAST69

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
L10338 mRNA Translation: AAA60391.1
L16242 mRNA Translation: AAA61277.1
U12193
, U12189, U12190, U12191, U12192 Genomic DNA Translation: AAB97608.1
AY391842 mRNA Translation: AAR25552.1
AK313279 mRNA Translation: BAG36087.1
DQ677665 Genomic DNA Translation: ABQ01236.1
BT019923 mRNA Translation: AAV38726.1
AC020907 Genomic DNA No translation available.
BC067122 mRNA Translation: AAH67122.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12441.1 [Q07699-1]
CCDS46047.1 [Q07699-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A55734

NCBI Reference Sequences

More...RefSeqi		NP_001028.1, NM_001037.4 [Q07699-1]
NP_001308534.1, NM_001321605.1
NP_950238.1, NM_199037.4 [Q07699-2]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.436646

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000262631; ENSP00000262631; ENSG00000105711 [Q07699-1]
ENST00000415950; ENSP00000396915; ENSG00000105711 [Q07699-2]
ENST00000638536; ENSP00000492022; ENSG00000105711 [Q07699-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6324

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6324

UCSC genome browser

More...UCSCi		uc002nxo.3 human [Q07699-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L10338 mRNA Translation: AAA60391.1
L16242 mRNA Translation: AAA61277.1
U12193
, U12189, U12190, U12191, U12192 Genomic DNA Translation: AAB97608.1
AY391842 mRNA Translation: AAR25552.1
AK313279 mRNA Translation: BAG36087.1
DQ677665 Genomic DNA Translation: ABQ01236.1
BT019923 mRNA Translation: AAV38726.1
AC020907 Genomic DNA No translation available.
BC067122 mRNA Translation: AAH67122.1
CCDSiCCDS12441.1 [Q07699-1]
CCDS46047.1 [Q07699-2]
PIRiA55734
RefSeqiNP_001028.1, NM_001037.4 [Q07699-1]
NP_001308534.1, NM_001321605.1
NP_950238.1, NM_199037.4 [Q07699-2]
UniGeneiHs.436646

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6AGFelectron microscopy3.20B1-218[»]
ProteinModelPortaliQ07699
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112229, 12 interactors
STRINGi9606.ENSP00000396915

Chemistry databases

DrugBankiDB00313 Valproic Acid
DB00909 Zonisamide

PTM databases

PhosphoSitePlusiQ07699

Polymorphism and mutation databases

BioMutaiSCN1B
DMDMi1705868

Proteomic databases

PaxDbiQ07699
PeptideAtlasiQ07699
PRIDEiQ07699
ProteomicsDBi58527
58528 [Q07699-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		6324
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262631; ENSP00000262631; ENSG00000105711 [Q07699-1]
ENST00000415950; ENSP00000396915; ENSG00000105711 [Q07699-2]
ENST00000638536; ENSP00000492022; ENSG00000105711 [Q07699-1]
GeneIDi6324
KEGGihsa:6324
UCSCiuc002nxo.3 human [Q07699-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6324
DisGeNETi6324
EuPathDBiHostDB:ENSG00000105711.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		SCN1B
GeneReviewsiSCN1B
HGNCiHGNC:10586 SCN1B
MalaCardsiSCN1B
MIMi600235 gene
604233 phenotype
612838 phenotype
615377 phenotype
617350 phenotype
neXtProtiNX_Q07699
OpenTargetsiENSG00000105711
Orphaneti130 Brugada syndrome
33069 Dravet syndrome
334 Familial atrial fibrillation
871 Familial progressive cardiac conduction defect
36387 Generalized epilepsy with febrile seizures-plus
PharmGKBiPA302

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IVI4 Eukaryota
ENOG4111MS0 LUCA
GeneTreeiENSGT00390000018560
HOGENOMiHOG000276881
HOVERGENiHBG063316
InParanoidiQ07699
KOiK04845
OMAiDNCAGVQ
OrthoDBi1124079at2759
PhylomeDBiQ07699
TreeFamiTF332097

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SCN1B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6324
PMAP-CutDBiQ07699

Protein Ontology

More...PROi		PR:Q07699

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000105711 Expressed in 86 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_SCN1B
ExpressionAtlasiQ07699 baseline and differential
GenevisibleiQ07699 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013106 Ig_V-set
IPR027098 Na_channel_b1/b3
PANTHERiPTHR10546 PTHR10546, 1 hit
PfamiView protein in Pfam
PF07686 V-set, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSCN1B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q07699
Secondary accession number(s): Q5TZZ4, Q6TN97
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: January 16, 2019
This is version 183 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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