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Q07699 (SCN1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sodium channel subunit beta-1
Gene names
Name:SCN1B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length218 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 Ref.11

Isoform 2:Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth. Ref.4 Ref.11

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

Membrane; Single-pass type I membrane protein Ref.11.

Isoform 2: Secreted Ref.11.

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.15

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13

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

Keywords
   Biological processCell adhesion
Ion transport
Sodium transport
Transport
   Cellular componentMembrane
Secreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseAtrial fibrillation
Brugada syndrome
Disease mutation
Epilepsy
   DomainImmunoglobulin domain
Signal
Transmembrane
Transmembrane helix
   LigandSodium
   Molecular functionIon channel
Sodium channel
Voltage-gated channel
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxon guidance

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac conduction

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac muscle cell action potential involved in contraction

Inferred from mutant phenotype Ref.13. Source: BHF-UCL

cardiac muscle contraction

Inferred from mutant phenotype Ref.13. Source: BHF-UCL

cell adhesion

Inferred from electronic annotation. Source: UniProtKB-KW

corticospinal neuron axon guidance

Inferred from sequence or structural similarity. Source: BHF-UCL

locomotion

Inferred from sequence or structural similarity. Source: BHF-UCL

membrane depolarization

Inferred from direct assay PubMed 21051419. Source: BHF-UCL

membrane depolarization during Purkinje myocyte cell action potential

Inferred from mutant phenotype Ref.10. Source: BHF-UCL

membrane depolarization during cardiac muscle cell action potential

Inferred from sequence or structural similarity PubMed 17884088. Source: BHF-UCL

neuronal action potential propagation

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of neuron projection development

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of sodium ion transport

Inferred from direct assay Ref.13. Source: BHF-UCL

regulation of atrial cardiac muscle cell membrane depolarization

Inferred from mutant phenotype Ref.13PubMed 22247482. Source: BHF-UCL

regulation of heart rate by cardiac conduction

Inferred from mutant phenotype Ref.13. Source: BHF-UCL

regulation of sodium ion transmembrane transporter activity

Inferred from direct assay Ref.13. Source: BHF-UCL

regulation of ventricular cardiac muscle cell membrane repolarization

Inferred from sequence or structural similarity PubMed 17884088. Source: BHF-UCL

response to pyrethroid

Inferred from electronic annotation. Source: Ensembl

sodium ion transmembrane transport

Inferred from direct assay Ref.10Ref.13PubMed 21051419. Source: BHF-UCL

synaptic transmission

Traceable author statement Ref.12. Source: ProtInc

   Cellular_componentT-tubule

Inferred from sequence or structural similarity. Source: BHF-UCL

extracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

intercalated disc

Inferred from sequence or structural similarity. Source: BHF-UCL

node of Ranvier

Inferred from sequence or structural similarity. Source: BHF-UCL

voltage-gated sodium channel complex

Inferred from direct assay Ref.13PubMed 21051419. Source: BHF-UCL

   Molecular_functionsodium channel inhibitor activity

Inferred from sequence or structural similarity PubMed 17884088. Source: BHF-UCL

sodium channel regulator activity

Inferred from direct assay Ref.10Ref.13. Source: BHF-UCL

voltage-gated sodium channel activity

Inferred from direct assay Ref.13Ref.4. Source: BHF-UCL

voltage-gated sodium channel activity involved in Purkinje myocyte action potential

Inferred from mutant phenotype Ref.10. Source: BHF-UCL

voltage-gated sodium channel activity involved in cardiac muscle cell action potential

Inferred from mutant phenotype Ref.13. Source: BHF-UCL

Complete GO annotation...

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; 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Chain19 – 218200Sodium channel subunit beta-1
PRO_0000014926

Regions

Topological domain19 – 160142Extracellular Potential
Transmembrane161 – 18222Helical; Potential
Topological domain183 – 21836Cytoplasmic Potential
Domain22 – 150129Ig-like C2-type

Amino acid modifications

Glycosylation931N-linked (GlcNAc...) Potential
Glycosylation1101N-linked (GlcNAc...) Potential
Glycosylation1141N-linked (GlcNAc...) Potential
Glycosylation1351N-linked (GlcNAc...) Potential
Disulfide bond40 ↔ 121 By similarity

Natural variations

Alternative sequence150 – 21869ANRDM…VQVAE → GESGAACPFTVTHRRARWRD RWQAVDRTGWLCAWPANRPQ QRAEGEGSSPSCPLQLWPLF LSSPRRGQSMPVPHRRSGYR TQLCHLCCMTSGRCLLSLSQ RVVLGLPGIIIRCVSRGVV in isoform 2.
VSP_041982
Natural variant251D → N in a patient with idiopathic epilepsy. Ref.14
VAR_062523
Natural variant851R → H in ATFB13; the mutant results in highly reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. Ref.13
VAR_070219
Natural variant871E → Q in a patient presenting with palpitations and complete left bundle branch block on electrocardiogram. Ref.10
VAR_062524
Natural variant1211C → W in GEFS+1. Ref.12
Corresponds to variant rs104894718 [ dbSNP | Ensembl ].
VAR_010165
Natural variant1251R → L in GEFS+1. Ref.15
VAR_067341
Natural variant1381V → I. Ref.14
Corresponds to variant rs72558029 [ dbSNP | Ensembl ].
VAR_062525
Natural variant1531D → N in ATFB13; the mutant results in reduced sodium currents when coexpressed with SCN5A in a heterologous expression system. Ref.13
VAR_070220
Natural variant2081K → I. Ref.14
VAR_062526
Natural variant2111C → Y. Ref.14
Corresponds to variant rs150721582 [ dbSNP | Ensembl ].
VAR_062527
Natural variant2131G → D. Ref.14
Corresponds to variant rs201209882 [ dbSNP | Ensembl ].
VAR_062528

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Beta-1) [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 09B812FA3F9E9018

FASTA21824,707
        10         20         30         40         50         60 
MGRLLALVVG AALVSSACGG CVEVDSETEA VYGMTFKILC ISCKRRSETN AETFTEWTFR 

        70         80         90        100        110        120 
QKGTEEFVKI LRYENEVLQL EEDERFEGRV VWNGSRGTKD LQDLSIFITN VTYNHSGDYE 

       130        140        150        160        170        180 
CHVYRLLFFE NYEHNTSVVK KIHIEVVDKA NRDMASIVSE IMMYVLIVVL TIWLVAEMIY 

       190        200        210 
CYKKIAAATE TAAQENASEY LAITSESKEN CTGVQVAE 

« Hide

Isoform 2 (Beta-1B) (beta1A) (beta1B) [UniParc].

Checksum: D9A001E676C0FAD1
Show »

FASTA26830,440

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] [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. expand/collapse author list , 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. expand/collapse author list , 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]"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] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L10338 mRNA. Translation: AAA60391.1.
L16242 mRNA. Translation: AAA61277.1.
U12193 expand/collapse EMBL AC list , 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.
PIRA55734.
RefSeqNP_001028.1. NM_001037.4.
NP_950238.1. NM_199037.3.
UniGeneHs.436646.

3D structure databases

ProteinModelPortalQ07699.
SMRQ07699. Positions 22-150.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112229. 1 interaction.
STRING9606.ENSP00000396915.

Chemistry

BindingDBQ07699.

PTM databases

PhosphoSiteQ07699.

Polymorphism databases

DMDM1705868.

Proteomic databases

PaxDbQ07699.
PRIDEQ07699.

Protocols and materials databases

DNASU6324.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262631; ENSP00000262631; ENSG00000105711. [Q07699-1]
ENST00000415950; ENSP00000396915; ENSG00000105711. [Q07699-2]
GeneID6324.
KEGGhsa:6324.
UCSCuc002nxo.2. human. [Q07699-2]
uc002nxp.3. human. [Q07699-1]

Organism-specific databases

CTD6324.
GeneCardsGC19P035521.
HGNCHGNC:10586. SCN1B.
MIM600235. gene.
604233. phenotype.
612838. phenotype.
615377. phenotype.
neXtProtNX_Q07699.
Orphanet130. Brugada syndrome.
33069. Dravet syndrome.
334. Familial atrial fibrillation.
871. Familial progressive cardiac conduction defect.
36387. Generalized epilepsy with febrile seizures-plus context.
PharmGKBPA302.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45207.
HOGENOMHOG000276881.
HOVERGENHBG056582.
InParanoidQ07699.
KOK04845.
OMAISCKKRS.
OrthoDBEOG7M3J19.
PhylomeDBQ07699.
TreeFamTF332097.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressQ07699.
BgeeQ07699.
CleanExHS_SCN1B.
GenevestigatorQ07699.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR013783. Ig-like_fold.
IPR013151. Immunoglobulin.
IPR027098. Na_channel_b1/b3.
[Graphical view]
PANTHERPTHR10546. PTHR10546. 1 hit.
PfamPF00047. ig. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSCN1B.
GenomeRNAi6324.
NextBio24542.
PMAP-CutDBQ07699.
PROQ07699.
SOURCESearch...

Entry information

Entry nameSCN1B_HUMAN
AccessionPrimary (citable) accession number: Q07699
Secondary accession number(s): Q5TZZ4, Q6TN97
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: April 16, 2014
This is version 139 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM