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Q07699

- SCN1B_HUMAN

UniProt

Q07699 - SCN1B_HUMAN

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Protein

Sodium channel subunit beta-1

Gene

SCN1B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 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.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

GO - Molecular functioni

  1. sodium channel inhibitor activity Source: BHF-UCL
  2. sodium channel regulator activity Source: BHF-UCL
  3. voltage-gated sodium channel activity Source: BHF-UCL
  4. voltage-gated sodium channel activity involved in cardiac muscle cell action potential Source: BHF-UCL
  5. voltage-gated sodium channel activity involved in Purkinje myocyte action potential Source: BHF-UCL

GO - Biological processi

  1. axon guidance Source: BHF-UCL
  2. cardiac conduction Source: BHF-UCL
  3. cardiac muscle cell action potential involved in contraction Source: BHF-UCL
  4. cardiac muscle contraction Source: BHF-UCL
  5. cell adhesion Source: UniProtKB-KW
  6. corticospinal neuron axon guidance Source: BHF-UCL
  7. locomotion Source: BHF-UCL
  8. membrane depolarization Source: BHF-UCL
  9. membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
  10. membrane depolarization during Purkinje myocyte cell action potential Source: BHF-UCL
  11. neuronal action potential propagation Source: BHF-UCL
  12. positive regulation of neuron projection development Source: BHF-UCL
  13. positive regulation of sodium ion transport Source: BHF-UCL
  14. regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
  15. regulation of heart rate by cardiac conduction Source: BHF-UCL
  16. regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
  17. regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  18. response to pyrethroid Source: Ensembl
  19. sodium ion transmembrane transport Source: BHF-UCL
  20. synaptic transmission Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Cell adhesion, Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_22266. Interaction between L1 and Ankyrins.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel subunit beta-1
Gene namesi
Name:SCN1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:10586. SCN1B.

Subcellular locationi

Isoform 2 : Secreted 1 Publication

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-KW
  2. intercalated disc Source: BHF-UCL
  3. node of Ranvier Source: BHF-UCL
  4. T-tubule Source: BHF-UCL
  5. voltage-gated sodium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti121 – 1211C → W in GEFS+1. 1 Publication
Corresponds to variant rs104894718 [ dbSNP | Ensembl ].
VAR_010165
Natural varianti125 – 1251R → L in GEFS+1. 1 Publication
VAR_067341
Brugada syndrome 5 (BRGDA5) [MIM:612838]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851R → 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 Publication
VAR_070219
Natural varianti153 – 1531D → N in ATFB13; the mutant results in reduced sodium currents when coexpressed with SCN5A in a heterologous expression system. 1 Publication
VAR_070220

Keywords - Diseasei

Atrial fibrillation, Brugada syndrome, Disease mutation, Epilepsy

Organism-specific databases

MIMi604233. phenotype.
612838. phenotype.
615377. phenotype.
Orphaneti130. Brugada syndrome.
33069. Dravet syndrome.
334. Familial atrial fibrillation.
871. Familial progressive cardiac conduction defect.
36387. Generalized epilepsy with febrile seizures-plus.
PharmGKBiPA302.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence AnalysisAdd
BLAST
Chaini19 – 218200Sodium channel subunit beta-1PRO_0000014926Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi40 ↔ 121By similarity
Glycosylationi93 – 931N-linked (GlcNAc...)Sequence Analysis
Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence Analysis
Glycosylationi114 – 1141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi135 – 1351N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ07699.
PRIDEiQ07699.

PTM databases

PhosphoSiteiQ07699.

Miscellaneous databases

PMAP-CutDBQ07699.

Expressioni

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

BgeeiQ07699.
CleanExiHS_SCN1B.
ExpressionAtlasiQ07699. baseline.
GenevestigatoriQ07699.

Interactioni

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 neurofascin. Associates with SCN10A (By similarity).By similarity

Protein-protein interaction databases

BioGridi112229. 1 interaction.
STRINGi9606.ENSP00000396915.

Structurei

3D structure databases

ProteinModelPortaliQ07699.
SMRiQ07699. Positions 21-128.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 160142ExtracellularSequence AnalysisAdd
BLAST
Topological domaini183 – 21836CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei161 – 18222HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini22 – 150129Ig-like C2-typeAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG45207.
GeneTreeiENSGT00390000018560.
HOGENOMiHOG000276881.
HOVERGENiHBG056582.
InParanoidiQ07699.
KOiK04845.
OMAiERIGNGP.
OrthoDBiEOG7M3J19.
PhylomeDBiQ07699.
TreeFamiTF332097.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR013783. Ig-like_fold.
IPR013151. Immunoglobulin.
IPR027098. Na_channel_b1/b3.
[Graphical view]
PANTHERiPTHR10546. PTHR10546. 1 hit.
PfamiPF00047. ig. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

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
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251D → N in a patient with idiopathic epilepsy. 1 Publication
VAR_062523
Natural varianti85 – 851R → 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 Publication
VAR_070219
Natural varianti87 – 871E → Q in a patient presenting with palpitations and complete left bundle branch block on electrocardiogram. 1 Publication
VAR_062524
Natural varianti121 – 1211C → W in GEFS+1. 1 Publication
Corresponds to variant rs104894718 [ dbSNP | Ensembl ].
VAR_010165
Natural varianti125 – 1251R → L in GEFS+1. 1 Publication
VAR_067341
Natural varianti138 – 1381V → I.1 Publication
Corresponds to variant rs72558029 [ dbSNP | Ensembl ].
VAR_062525
Natural varianti153 – 1531D → N in ATFB13; the mutant results in reduced sodium currents when coexpressed with SCN5A in a heterologous expression system. 1 Publication
VAR_070220
Natural varianti208 – 2081K → I.1 Publication
VAR_062526
Natural varianti211 – 2111C → Y.1 Publication
Corresponds to variant rs150721582 [ dbSNP | Ensembl ].
VAR_062527
Natural varianti213 – 2131G → D.1 Publication
Corresponds to variant rs201209882 [ dbSNP | Ensembl ].
VAR_062528

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei150 – 21869ANRDM…VQVAE → GESGAACPFTVTHRRARWRD RWQAVDRTGWLCAWPANRPQ QRAEGEGSSPSCPLQLWPLF LSSPRRGQSMPVPHRRSGYR TQLCHLCCMTSGRCLLSLSQ RVVLGLPGIIIRCVSRGVV in isoform 2. 1 PublicationVSP_041982Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_950238.1. NM_199037.3. [Q07699-2]
UniGeneiHs.436646.

Genome annotation databases

EnsembliENST00000262631; ENSP00000262631; ENSG00000105711. [Q07699-1]
ENST00000415950; ENSP00000396915; ENSG00000105711. [Q07699-2]
GeneIDi6324.
KEGGihsa:6324.
UCSCiuc002nxo.2. human. [Q07699-2]
uc002nxp.3. human. [Q07699-1]

Polymorphism databases

DMDMi1705868.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS12441.1. [Q07699-1 ]
CCDS46047.1. [Q07699-2 ]
PIRi A55734.
RefSeqi NP_001028.1. NM_001037.4. [Q07699-1 ]
NP_950238.1. NM_199037.3. [Q07699-2 ]
UniGenei Hs.436646.

3D structure databases

ProteinModelPortali Q07699.
SMRi Q07699. Positions 21-128.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112229. 1 interaction.
STRINGi 9606.ENSP00000396915.

Chemistry

BindingDBi Q07699.
DrugBanki DB00313. Valproic Acid.
DB00909. Zonisamide.

PTM databases

PhosphoSitei Q07699.

Polymorphism databases

DMDMi 1705868.

Proteomic databases

PaxDbi Q07699.
PRIDEi Q07699.

Protocols and materials databases

DNASUi 6324.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262631 ; ENSP00000262631 ; ENSG00000105711 . [Q07699-1 ]
ENST00000415950 ; ENSP00000396915 ; ENSG00000105711 . [Q07699-2 ]
GeneIDi 6324.
KEGGi hsa:6324.
UCSCi uc002nxo.2. human. [Q07699-2 ]
uc002nxp.3. human. [Q07699-1 ]

Organism-specific databases

CTDi 6324.
GeneCardsi GC19P035521.
GeneReviewsi SCN1B.
HGNCi HGNC:10586. SCN1B.
MIMi 600235. gene.
604233. phenotype.
612838. phenotype.
615377. phenotype.
neXtProti NX_Q07699.
Orphaneti 130. Brugada syndrome.
33069. Dravet syndrome.
334. Familial atrial fibrillation.
871. Familial progressive cardiac conduction defect.
36387. Generalized epilepsy with febrile seizures-plus.
PharmGKBi PA302.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG45207.
GeneTreei ENSGT00390000018560.
HOGENOMi HOG000276881.
HOVERGENi HBG056582.
InParanoidi Q07699.
KOi K04845.
OMAi ERIGNGP.
OrthoDBi EOG7M3J19.
PhylomeDBi Q07699.
TreeFami TF332097.

Enzyme and pathway databases

Reactomei REACT_22266. Interaction between L1 and Ankyrins.

Miscellaneous databases

GeneWikii SCN1B.
GenomeRNAii 6324.
NextBioi 24542.
PMAP-CutDB Q07699.
PROi Q07699.
SOURCEi Search...

Gene expression databases

Bgeei Q07699.
CleanExi HS_SCN1B.
ExpressionAtlasi Q07699. baseline.
Genevestigatori Q07699.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR013783. Ig-like_fold.
IPR013151. Immunoglobulin.
IPR027098. Na_channel_b1/b3.
[Graphical view ]
PANTHERi PTHR10546. PTHR10546. 1 hit.
Pfami PF00047. ig. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [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.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  10. Cited for: INVOLVEMENT IN BRGDA5, VARIANT GLN-87.
  11. "Voltage-gated Na+ channel beta1B: a secreted cell adhesion molecule involved in human epilepsy."
    Patino G.A., Brackenbury W.J., Bao Y., Lopez-Santiago L.F., O'Malley H.A., Chen C., Calhoun J.D., Lafreniere R.G., Cossette P., Rouleau G.A., Isom L.L.
    J. Neurosci. 31:14577-14591(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION (ISOFORM 2), SUBCELLULAR LOCATION (ISOFORM 2).
  12. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT GEFS+1 TRP-121.
  13. "Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation."
    Watanabe H., Darbar D., Kaiser D.W., Jiramongkolchai K., Chopra S., Donahue B.S., Kannankeril P.J., Roden D.M.
    Circ. Arrhythm. Electrophysiol. 2:268-275(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ATFB13 HIS-85 AND ASN-153, CHARACTERIZATION OF VARIANTS ATFB13 HIS-85 AND ASN-153.
  14. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASN-25; ILE-138; ILE-208; TYR-211 AND ASP-213.
  15. "New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures."
    Fendri-Kriaa N., Kammoun F., Salem I.H., Kifagi C., Mkaouar-Rebai E., Hsairi I., Rebai A., Triki C., Fakhfakh F.
    Eur. J. Neurol. 18:695-702(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GEFS+1 LEU-125.

Entry informationi

Entry nameiSCN1B_HUMAN
AccessioniPrimary (citable) accession number: Q07699
Secondary accession number(s): Q5TZZ4, Q6TN97
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: October 29, 2014
This is version 145 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3