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Q9NY72 (SCN3B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sodium channel subunit beta-3
Gene names
Name:SCN3B
Synonyms:KIAA1158
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length215 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. 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 By similarity.

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, beta-3 and/or beta-4 subunits. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 and beta-4 are covalently linked by disulfide bonds By similarity.

Subcellular location

Membrane; Single-pass type I membrane protein.

Involvement in disease

Brugada syndrome 7 (BRGDA7) [MIM:613120]: 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.8

Sequence similarities

Belongs to the sodium channel auxiliary subunit SCN3B (TC 8.A.17) family. [View classification]

Contains 1 Ig-like C2-type (immunoglobulin-like) domain.

Sequence caution

The sequence BAA86472.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processIon transport
Sodium transport
Transport
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DiseaseBrugada syndrome
Disease mutation
   DomainImmunoglobulin domain
Signal
Transmembrane
Transmembrane helix
   LigandSodium
   Molecular functionIon channel
Sodium channel
Voltage-gated channel
   PTMDisulfide bond
Glycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processSA node cell to atrial cardiac muscle cell communication

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

atrial cardiac muscle cell action potential

Inferred from mutant phenotype PubMed 21051419. Source: BHF-UCL

axon guidance

Traceable author statement. Source: Reactome

cardiac muscle cell action potential involved in contraction

Inferred from mutant phenotype PubMed 21051419. Source: BHF-UCL

cardiac muscle contraction

Inferred from mutant phenotype Ref.9PubMed 21051419. Source: BHF-UCL

membrane depolarization

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

membrane depolarization during action potential

Inferred from direct assay Ref.9PubMed 20226894. Source: BHF-UCL

membrane depolarization during cardiac muscle cell action potential

Inferred from mutant phenotype PubMed 21051419. Source: BHF-UCL

positive regulation of heart rate

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

positive regulation of sodium ion transport

Inferred from direct assay Ref.9. Source: BHF-UCL

protein localization to plasma membrane

Inferred from mutant phenotype Ref.9. Source: BHF-UCL

regulation of atrial cardiac muscle cell membrane depolarization

Inferred from mutant phenotype PubMed 21051419. Source: BHF-UCL

regulation of heart rate by cardiac conduction

Inferred from mutant phenotype Ref.9PubMed 21051419. Source: BHF-UCL

regulation of sodium ion transmembrane transporter activity

Inferred from mutant phenotype Ref.9. Source: BHF-UCL

regulation of ventricular cardiac muscle cell membrane depolarization

Inferred from mutant phenotype Ref.9. Source: BHF-UCL

sensory perception of pain

Inferred from electronic annotation. Source: Ensembl

sodium ion transmembrane transport

Inferred from direct assay Ref.9PubMed 20226894. Source: BHF-UCL

sodium ion transport

Non-traceable author statement Ref.1. Source: UniProtKB

ventricular cardiac muscle cell action potential

Inferred from mutant phenotype Ref.9. Source: BHF-UCL

   Cellular_componentZ disc

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

integral component of membrane

Non-traceable author statement Ref.1. Source: UniProtKB

plasma membrane

Inferred from direct assay. Source: LIFEdb

voltage-gated sodium channel complex

Inferred from direct assay Ref.9PubMed 21051419. Source: BHF-UCL

   Molecular_functionion channel binding

Inferred from physical interaction Ref.9. Source: BHF-UCL

sodium channel regulator activity

Inferred from direct assay PubMed 20226894. Source: BHF-UCL

voltage-gated sodium channel activity

Non-traceable author statement Ref.1. Source: UniProtKB

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

Inferred from direct assay Ref.9. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 By similarity
Chain23 – 215193Sodium channel subunit beta-3
PRO_0000014933

Regions

Topological domain23 – 159137Extracellular Potential
Transmembrane160 – 18021Helical; Potential
Topological domain181 – 21535Cytoplasmic Potential
Domain32 – 154123Ig-like C2-type

Amino acid modifications

Glycosylation951N-linked (GlcNAc...) Potential
Glycosylation1091N-linked (GlcNAc...) Potential
Glycosylation1131N-linked (GlcNAc...) Potential
Glycosylation1211N-linked (GlcNAc...) Potential
Disulfide bond26 ↔ 48 Potential
Disulfide bond45 ↔ 120 Potential

Natural variations

Natural variant101L → P in BRGDA7. Ref.8
VAR_062529
Natural variant541V → G Found in a case of idiopathic ventricular fibrillation. Ref.9
VAR_065232
Natural variant891Q → L in a colorectal cancer sample; somatic mutation. Ref.7
VAR_035521
Natural variant971S → N.
Corresponds to variant rs35174956 [ dbSNP | Ensembl ].
VAR_049928
Natural variant1951A → T in a colorectal cancer sample; somatic mutation. Ref.7
VAR_035522

Sequences

Sequence LengthMass (Da)Tools
Q9NY72 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 70F6C604E9E26662

FASTA21524,702
        10         20         30         40         50         60 
MPAFNRLFPL ASLVLIYWVS VCFPVCVEVP SETEAVQGNP MKLRCISCMK REEVEATTVV 

        70         80         90        100        110        120 
EWFYRPEGGK DFLIYEYRNG HQEVESPFQG RLQWNGSKDL QDVSITVLNV TLNDSGLYTC 

       130        140        150        160        170        180 
NVSREFEFEA HRPFVKTTRL IPLRVTEEAG EDFTSVVSEI MMYILLVFLT LWLLIEMIYC 

       190        200        210 
YRKVSKAEEA AQENASDYLA IPSENKENSA VPVEE 

« Hide

References

« Hide 'large scale' references
[1]"Beta3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics."
Morgan K., Stevens E.B., Shaw B., Cox P., Dixon A.K., Lee K., Pinnock R.D., Highes J., Richardson P.J., Mizuguchi K., Jackson A.P.
Proc. Natl. Acad. Sci. U.S.A. 97:2308-2313(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Brain.
[2]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Amygdala.
[3]"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[4]"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].
Tissue: Brain.
[5]NHLBI resequencing and genotyping service (RS&G)
Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[6]"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].
Tissue: Brain.
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-89 AND THR-195.
[8]"A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype."
Hu D., Barajas-Martinez H., Burashnikov E., Springer M., Wu Y., Varro A., Pfeiffer R., Koopmann T.T., Cordeiro J.M., Guerchicoff A., Pollevick G.D., Antzelevitch C.
Circ. Cardiovasc. Genet. 2:270-278(2009)
Cited for: VARIANT BRGDA7 PRO-10.
[9]"Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation."
Valdivia C.R., Medeiros-Domingo A., Ye B., Shen W.K., Algiers T.J., Ackerman M.J., Makielski J.C.
Cardiovasc. Res. 86:392-400(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GLY-54.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ243396 mRNA. Translation: CAB76825.1.
AL136589 mRNA. Translation: CAB66524.1.
AB032984 mRNA. Translation: BAA86472.1. Different initiation.
AK314513 mRNA. Translation: BAG37113.1.
DQ677666 Genomic DNA. Translation: ABQ01237.1.
BC117282 mRNA. Translation: AAI17283.1.
BC126265 mRNA. Translation: AAI26266.1.
RefSeqNP_001035241.1. NM_001040151.1.
NP_060870.1. NM_018400.3.
UniGeneHs.4865.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4L1DX-ray2.50A/B/C25-145[»]
ProteinModelPortalQ9NY72.
SMRQ9NY72. Positions 25-122.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120912. 1 interaction.
MINTMINT-4724379.
STRING9606.ENSP00000299333.

Chemistry

BindingDBQ9NY72.

PTM databases

PhosphoSiteQ9NY72.

Polymorphism databases

DMDM12229762.

Proteomic databases

PRIDEQ9NY72.

Protocols and materials databases

DNASU55800.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299333; ENSP00000299333; ENSG00000166257.
ENST00000392770; ENSP00000376523; ENSG00000166257.
ENST00000530277; ENSP00000432785; ENSG00000166257.
GeneID55800.
KEGGhsa:55800.
UCSCuc001pza.1. human.

Organism-specific databases

CTD55800.
GeneCardsGC11M123533.
HGNCHGNC:20665. SCN3B.
HPAHPA042518.
MIM608214. gene.
613120. phenotype.
neXtProtNX_Q9NY72.
Orphanet130. Brugada syndrome.
PharmGKBPA130546912.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40812.
HOGENOMHOG000276881.
HOVERGENHBG056582.
InParanoidQ9NY72.
KOK04847.
OMALLIEMVY.
OrthoDBEOG7M3J19.
PhylomeDBQ9NY72.
TreeFamTF332097.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressQ9NY72.
BgeeQ9NY72.
CleanExHS_SCN3B.
GenevestigatorQ9NY72.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
IPR027098. Na_channel_b1/b3.
IPR027096. Na_channel_b3.
[Graphical view]
PANTHERPTHR10546. PTHR10546. 1 hit.
PTHR10546:SF1. PTHR10546:SF1. 1 hit.
PfamPF07686. V-set. 1 hit.
[Graphical view]
SMARTSM00409. IG. 1 hit.
[Graphical view]
PROSITEPS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSCN3B.
GenomeRNAi55800.
NextBio60937.
PMAP-CutDBQ9NY72.
PROQ9NY72.
SOURCESearch...

Entry information

Entry nameSCN3B_HUMAN
AccessionPrimary (citable) accession number: Q9NY72
Secondary accession number(s): A5H1I5, Q17RL3, Q9ULR2
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 128 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 11

Human chromosome 11: entries, gene names and cross-references to MIM