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UniProtKB - Q07699 (SCN1B_HUMAN)

Entry version 194 (12 Aug 2020)
Sequence version 1 (01 Oct 1996)
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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

Regulatory subunit of multiple voltage-gated sodium channel complexes that play important roles in excitable membranes in brain, heart and skeletal muscle. Enhances the presence of the pore-forming alpha subunit at the cell surface and modulates channel gating characteristics and the rate of channel inactivation. Modulates the activity of multiple pore-forming alpha subunits, such as SCN1A, SCN2A, SCN3A, SCN4A, SCN5A and SCN10A.8 Publications
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).2 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q07699

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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 160Extracellular1 PublicationAdd BLAST142
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 182Helical1 PublicationAdd BLAST22
Topological domaini183 – 218Cytoplasmic1 PublicationAdd BLAST36

Keywords - Cellular componenti

Cell membrane, Cell projection, 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.
Related information in OMIM
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.
Related information in OMIM
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.
Related information in OMIM
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.
Related information in OMIM
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:rs1135401736EnsemblClinVar.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
1934, Early infantile epileptic encephalopathy
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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q07699, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB05541, Brivaracetam
DB00907, Cocaine
DB13269, Dichlorobenzyl alcohol
DB13961, Fish oil
DB00776, Oxcarbazepine
DB00252, Phenytoin
DB00243, Ranolazine
DB00313, Valproic acid
DB00909, Zonisamide

DrugCentral

More...DrugCentrali		Q07699

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 or proteolytic cleavage.<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 bondi21 ↔ 43Combined sources2 Publications
Disulfide bondi40 ↔ 121Combined sources2 Publications
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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...) asparagineCombined sources1 Publication1
Glycosylationi110N-linked (GlcNAc...) asparagineCombined sources2 Publications1
Glycosylationi114N-linked (GlcNAc...) asparagineCombined sources2 Publications1
Glycosylationi135N-linked (GlcNAc...) asparagineCombined sources1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q07699

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: a multi-organism proteome resource

More...ProteomicsDBi		58527 [Q07699-1]
58528 [Q07699-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q07699, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q07699

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

More...PhosphoSitePlusi		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 isoform 1 and isoform 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).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000105711, Expressed in right hemisphere of cerebellum and 110 other tissues

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

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000105711, Group enriched (brain, skeletal muscle)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a voltage-sensitive sodium channel complex that consists of a pore-forming alpha subunit and one or more regulatory beta subunits (PubMed:15525788, PubMed:21994374, PubMed:30190309).

Interacts with SCN4A (PubMed:8125980).

Interacts with NFASC.

Interacts with SCN10A (By similarity).

Interacts with SCN1A (PubMed:15525788, PubMed:21994374, PubMed:17928445).

Interacts with SCN3A (PubMed:21994374).

Interacts with SCN5A (PubMed:21994374).

Interacts with SCN8A (PubMed:26900580).

By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112229, 13 interactors

Protein interaction database and analysis system

More...IntActi		Q07699, 4 interactors

Molecular INTeraction database

More...MINTi		Q07699

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000396915

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q07699, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q07699

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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%5Fand%5Fdomains%5Fsection">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		ENOG502R0UM, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018560

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_096296_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q07699

KEGG Orthology (KO)

More...KOi		K04845

Identification of Orthologs from Complete Genome Data

More...OMAi		AGCVEVD

Database of Orthologous Groups

More...OrthoDBi		1041959at2759

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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.Curated
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 variant found in a patient with idiopathic childhood epilepsy; de novo mutation; loss of function in increasing sodium channel activity. 2 PublicationsCorresponds 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 variant 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:rs1135401736EnsemblClinVar.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.<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 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]

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 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]

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[»]
6J8Gelectron microscopy3.20B1-218[»]
6J8Helectron microscopy3.20B1-218[»]
6J8Ielectron microscopy3.20B1-218[»]
6J8Jelectron microscopy3.20B1-218[»]
SMRiQ07699
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112229, 13 interactors
IntActiQ07699, 4 interactors
MINTiQ07699
STRINGi9606.ENSP00000396915

Chemistry databases

DrugBankiDB05541, Brivaracetam
DB00907, Cocaine
DB13269, Dichlorobenzyl alcohol
DB13961, Fish oil
DB00776, Oxcarbazepine
DB00252, Phenytoin
DB00243, Ranolazine
DB00313, Valproic acid
DB00909, Zonisamide
DrugCentraliQ07699

PTM databases

GlyGeniQ07699, 4 sites
iPTMnetiQ07699
PhosphoSitePlusiQ07699

Polymorphism and mutation databases

BioMutaiSCN1B
DMDMi1705868

Proteomic databases

MassIVEiQ07699
PaxDbiQ07699
PeptideAtlasiQ07699
PRIDEiQ07699
ProteomicsDBi58527 [Q07699-1]
58528 [Q07699-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29258, 203 antibodies

The DNASU plasmid repository

More...DNASUi		6324

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
HPAiENSG00000105711, Group enriched (brain, skeletal muscle)
MalaCardsiSCN1B
MIMi600235, gene
604233, phenotype
612838, phenotype
615377, phenotype
617350, phenotype
neXtProtiNX_Q07699
OpenTargetsiENSG00000105711
Orphaneti130, Brugada syndrome
33069, Dravet syndrome
1934, Early infantile epileptic encephalopathy
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

eggNOGiENOG502R0UM, Eukaryota
GeneTreeiENSGT00390000018560
HOGENOMiCLU_096296_0_0_1
InParanoidiQ07699
KOiK04845
OMAiAGCVEVD
OrthoDBi1041959at2759
PhylomeDBiQ07699
TreeFamiTF332097

Enzyme and pathway databases

PathwayCommonsiQ07699
ReactomeiR-HSA-445095, Interaction between L1 and Ankyrins
R-HSA-5576892, Phase 0 - rapid depolarisation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6324, 4 hits in 871 CRISPR screens

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
PharosiQ07699, Tbio

Protein Ontology

More...PROi		PR:Q07699
RNActiQ07699, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000105711, Expressed in right hemisphere of cerebellum and 110 other tissues
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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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%5Fand%5Fisoforms">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: August 12, 2020
This is version 194 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, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families
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