Q07699 (SCN1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 114.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Sodium channel subunit beta-1 | ||
| Gene names |
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| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 218 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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 neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons. Ref.4 |
| Subunit structure | 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 neurofascin. Associates with SCN10A By similarity. |
| Subcellular location | |
| Tissue specificity | 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). Ref.4 |
| Involvement in disease | Defects in SCN1B are the cause of generalized epilepsy with febrile seizures plus type 1 (GEFS+1) [MIM:604233]. Generalized epilepsy with febrile seizures-plus refers to 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. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Ref.11 Defects in SCN1B are the cause of Brugada syndrome type 5 (BRS5) [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 (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not reset. Ref.10 |
| Sequence similarities | Belongs to the sodium channel auxiliary subunit SCN1B (TC 8.A.17) family. [View classification] Contains 1 Ig-like C2-type (immunoglobulin-like) domain. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q07699-1) 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. | ||||||
| Isoform 2 (identifier: Q07699-2) Also known as: Beta-1B; The sequence of this isoform differs from the canonical sequence as follows: 150-218: ANRDMASIVS...ENCTGVQVAE → GESGAACPFT...IIRCVSRGVV |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 18 | 18 | Potential | ||||||||
| Chain | 19 – 218 | 200 | Sodium channel subunit beta-1 | PRO_0000014926 | |||||||
Regions | |||||||||||
| Topological domain | 19 – 160 | 142 | Extracellular Potential | ||||||||
| Transmembrane | 161 – 182 | 22 | Helical; Potential | ||||||||
| Topological domain | 183 – 218 | 36 | Cytoplasmic Potential | ||||||||
| Domain | 22 – 150 | 129 | Ig-like C2-type | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 93 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 110 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 114 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 135 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 40 ↔ 121 | Potential | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 150 – 218 | 69 | ANRDM…VQVAE → GESGAACPFTVTHRRARWRD RWQAVDRTGWLCAWPANRPQ QRAEGEGSSPSCPLQLWPLF LSSPRRGQSMPVPHRRSGYR TQLCHLCCMTSGRCLLSLSQ RVVLGLPGIIIRCVSRGVV in isoform 2. | VSP_041982 | |||||||
| Natural variant | 25 | 1 | D → N in a patient with idiopathic epilepsy. Ref.12 | VAR_062523 | |||||||
| Natural variant | 87 | 1 | E → Q in a patient presenting with palpitations and complete left bundle branch block on electrocardiogram. Ref.10 | VAR_062524 | |||||||
| Natural variant | 121 | 1 | C → W in GEFS+1. Ref.11 | VAR_010165 | |||||||
| Natural variant | 138 | 1 | V → I. Ref.12 | VAR_062525 | |||||||
| Natural variant | 208 | 1 | K → I. Ref.12 | VAR_062526 | |||||||
| Natural variant | 211 | 1 | C → Y. Ref.12 | VAR_062527 | |||||||
| Natural variant | 213 | 1 | G → D. Ref.12 | VAR_062528 | |||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain." McClatchey A.I., Cannon S.C., Slaugenhaupt S.A., Gusella J.F. Hum. Mol. Genet. 2:745-749(1993) [PubMed: 8394762] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain. |
| [2] | "Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene." Makita N., Bennett P.B. Jr., George A.L. Jr. J. Biol. Chem. 269:7571-7578(1994) [PubMed: 8125980] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Heart and Skeletal muscle. |
| [3] | "Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B)." Makita N., Sloan-Brown K., Weghuis D.O., Ropers H.-H., George A.L. Jr. Genomics 23:628-634(1994) [PubMed: 7851891] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Placenta. |
| [4] | "Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit." Qin N., D'Andrea M.R., Lubin M.L., Shafaee N., Codd E.E., Correa A.M. Eur. J. Biochem. 270:4762-4770(2003) [PubMed: 14622265] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY. |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Skeletal muscle. |
| [6] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [7] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | NHLBI resequencing and genotyping service (RS&G) Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [9] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [10] | "Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans." Watanabe H., Koopmann T.T., Le Scouarnec S., Yang T., Ingram C.R., Schott J.J., Demolombe S., Probst V., Anselme F., Escande D., Wiesfeld A.C., Pfeufer A., Kaab S., Wichmann H.E., Hasdemir C., Aizawa Y., Wilde A.A., Roden D.M., Bezzina C.R. J. Clin. Invest. 118:2260-2268(2008) [PubMed: 18464934] [Abstract] Cited for: INVOLVEMENT IN BRS5, VARIANT GLN-87. |
| [11] | "Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B." Wallace R.H., Wang D.W., Singh R., Scheffer I.E., George A.L. Jr., Phillips H.A., Saar K., Reis A., Johnson E.W., Sutherland G.R., Berkovic S.F., Mulley J.C. Nat. Genet. 19:366-370(1998) [PubMed: 9697698] [Abstract] Cited for: VARIANT GEFS+1 TRP-121. |
| [12] | "Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies." Orrico A., Galli L., Grosso S., Buoni S., Pianigiani R., Balestri P., Sorrentino V. Clin. Genet. 75:579-581(2009) [PubMed: 19522081] [Abstract] Cited for: VARIANTS ASN-25; ILE-138; ILE-208; TYR-211 AND ASP-213. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00018980. |
| PIR | A55734. |
| RefSeq | NP_001028.1. NM_001037.4. NP_950238.1. NM_199037.3. |
| UniGene | Hs.436646. |
3D structure databases | |
| ProteinModelPortal | Q07699. |
| SMR | Q07699. Positions 29-151. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q07699. |
PTM databases | |
| PhosphoSite | Q07699. |
Polymorphism databases | |
| DMDM | 1705868. |
Proteomic databases | |
| PRIDE | Q07699. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000262631; ENSP00000262631; ENSG00000105711. ENST00000415950; ENSP00000396915; ENSG00000105711. |
| GeneID | 6324. |
| KEGG | hsa:6324. |
| UCSC | uc002nxp.1. human. |
Organism-specific databases | |
| CTD | 6324. |
| GeneCards | GC19P035521. |
| H-InvDB | HIX0202836. |
| HGNC | HGNC:10586. SCN1B. |
| MIM | 600235. gene. 604233. phenotype. 612838. phenotype. |
| neXtProt | NX_Q07699. |
| Orphanet | 130. Brugada syndrome. 33069. Dravet syndrome. 36387. Generalized epilepsy with febrile seizures-plus context. |
| PharmGKB | PA302. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG15631. |
| HOVERGEN | HBG056582. |
| InParanoid | Q07699. |
| OMA | ISCKKRS. |
| OrthoDB | EOG4X97JG. |
| PhylomeDB | Q07699. |
Enzyme and pathway databases | |
| Reactome | REACT_111045. Developmental Biology. |
Gene expression databases | |
| CleanEx | HS_SCN1B. |
| Genevestigator | Q07699. |
| GermOnline | ENSG00000105711. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR013783. Ig-like_fold. IPR013151. Immunoglobulin. [Graphical view] |
| Gene3D | G3DSA:2.60.40.10. Ig-like_fold. 1 hit. |
| KO | K04845. |
| Pfam | PF00047. ig. 1 hit. [Graphical view] |
| PROSITE | PS50835. IG_LIKE. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 24542. |
| PMAP-CutDB | Q07699. |
| SOURCE | Search... |
Entry information
| Entry name | SCN1B_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q07699 Secondary accession number(s): Q5TZZ4, Q6TN97 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with