SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9NY72

- SCN3B_HUMAN

UniProt

Q9NY72 - SCN3B_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Sodium channel subunit beta-3

Gene
SCN3B, KIAA1158
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. ion channel binding Source: BHF-UCL
  2. sodium channel regulator activity Source: BHF-UCL
  3. voltage-gated sodium channel activity Source: UniProtKB
  4. voltage-gated sodium channel activity involved in cardiac muscle cell action potential Source: BHF-UCL

GO - Biological processi

  1. atrial cardiac muscle cell action potential Source: BHF-UCL
  2. axon guidance Source: Reactome
  3. cardiac muscle cell action potential involved in contraction Source: BHF-UCL
  4. cardiac muscle contraction Source: BHF-UCL
  5. membrane depolarization Source: BHF-UCL
  6. membrane depolarization during action potential Source: BHF-UCL
  7. membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
  8. positive regulation of heart rate Source: BHF-UCL
  9. positive regulation of sodium ion transport Source: BHF-UCL
  10. protein localization to plasma membrane Source: BHF-UCL
  11. regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
  12. regulation of heart rate by cardiac conduction Source: BHF-UCL
  13. regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
  14. regulation of ventricular cardiac muscle cell membrane depolarization Source: BHF-UCL
  15. SA node cell to atrial cardiac muscle cell communication Source: BHF-UCL
  16. sensory perception of pain Source: Ensembl
  17. sodium ion transmembrane transport Source: BHF-UCL
  18. sodium ion transport Source: UniProtKB
  19. ventricular cardiac muscle cell action potential Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

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-3
Gene namesi
Name:SCN3B
Synonyms:KIAA1158
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:20665. SCN3B.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 159137Extracellular Reviewed predictionAdd
BLAST
Transmembranei160 – 18021Helical; Reviewed predictionAdd
BLAST
Topological domaini181 – 21535Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB
  2. plasma membrane Source: LIFEdb
  3. voltage-gated sodium channel complex Source: BHF-UCL
  4. Z disc Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101L → P in BRGDA7. 1 Publication
VAR_062529

Keywords - Diseasei

Brugada syndrome, Disease mutation

Organism-specific databases

MIMi613120. phenotype.
Orphaneti130. Brugada syndrome.
PharmGKBiPA130546912.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222 By similarityAdd
BLAST
Chaini23 – 215193Sodium channel subunit beta-3PRO_0000014933Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi26 ↔ 48 Reviewed prediction
Disulfide bondi45 ↔ 120 Reviewed prediction
Glycosylationi95 – 951N-linked (GlcNAc...) Reviewed prediction
Glycosylationi109 – 1091N-linked (GlcNAc...) Reviewed prediction
Glycosylationi113 – 1131N-linked (GlcNAc...) Reviewed prediction
Glycosylationi121 – 1211N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PRIDEiQ9NY72.

PTM databases

PhosphoSiteiQ9NY72.

Miscellaneous databases

PMAP-CutDBQ9NY72.

Expressioni

Gene expression databases

ArrayExpressiQ9NY72.
BgeeiQ9NY72.
CleanExiHS_SCN3B.
GenevestigatoriQ9NY72.

Organism-specific databases

HPAiHPA042518.

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, 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.

Protein-protein interaction databases

BioGridi120912. 1 interaction.
MINTiMINT-4724379.
STRINGi9606.ENSP00000299333.

Structurei

Secondary structure

1
215
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi34 – 363
Beta strandi41 – 433
Beta strandi57 – 659
Beta strandi72 – 8211
Turni87 – 904
Beta strandi91 – 944
Beta strandi100 – 1023
Beta strandi105 – 1073
Helixi112 – 1143
Beta strandi116 – 12510
Beta strandi135 – 14511

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4L1DX-ray2.50A/B/C25-145[»]
ProteinModelPortaliQ9NY72.
SMRiQ9NY72. Positions 25-145.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini32 – 154123Ig-like C2-typeAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG40812.
HOGENOMiHOG000276881.
HOVERGENiHBG056582.
InParanoidiQ9NY72.
KOiK04847.
OMAiLLIEMVY.
OrthoDBiEOG7M3J19.
PhylomeDBiQ9NY72.
TreeFamiTF332097.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. 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]
PANTHERiPTHR10546. PTHR10546. 1 hit.
PTHR10546:SF1. PTHR10546:SF1. 1 hit.
PfamiPF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
[Graphical view]
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9NY72-1 [UniParc]FASTAAdd to Basket

« Hide

MPAFNRLFPL ASLVLIYWVS VCFPVCVEVP SETEAVQGNP MKLRCISCMK    50
REEVEATTVV EWFYRPEGGK DFLIYEYRNG HQEVESPFQG RLQWNGSKDL 100
QDVSITVLNV TLNDSGLYTC NVSREFEFEA HRPFVKTTRL IPLRVTEEAG 150
EDFTSVVSEI MMYILLVFLT LWLLIEMIYC YRKVSKAEEA AQENASDYLA 200
IPSENKENSA VPVEE 215
Length:215
Mass (Da):24,702
Last modified:October 1, 2000 - v1
Checksum:i70F6C604E9E26662
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101L → P in BRGDA7. 1 Publication
VAR_062529
Natural varianti54 – 541V → G Found in a case of idiopathic ventricular fibrillation. 1 Publication
VAR_065232
Natural varianti89 – 891Q → L in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035521
Natural varianti97 – 971S → N.
Corresponds to variant rs35174956 [ dbSNP | Ensembl ].
VAR_049928
Natural varianti195 – 1951A → T in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035522

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS8442.1.
RefSeqiNP_001035241.1. NM_001040151.1.
NP_060870.1. NM_018400.3.
XP_006718945.1. XM_006718882.1.
UniGeneiHs.4865.

Genome annotation databases

EnsembliENST00000299333; ENSP00000299333; ENSG00000166257.
ENST00000392770; ENSP00000376523; ENSG00000166257.
ENST00000530277; ENSP00000432785; ENSG00000166257.
GeneIDi55800.
KEGGihsa:55800.
UCSCiuc001pza.1. human.

Polymorphism databases

DMDMi12229762.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS8442.1.
RefSeqi NP_001035241.1. NM_001040151.1.
NP_060870.1. NM_018400.3.
XP_006718945.1. XM_006718882.1.
UniGenei Hs.4865.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4L1D X-ray 2.50 A/B/C 25-145 [» ]
ProteinModelPortali Q9NY72.
SMRi Q9NY72. Positions 25-145.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120912. 1 interaction.
MINTi MINT-4724379.
STRINGi 9606.ENSP00000299333.

Chemistry

BindingDBi Q9NY72.

PTM databases

PhosphoSitei Q9NY72.

Polymorphism databases

DMDMi 12229762.

Proteomic databases

PRIDEi Q9NY72.

Protocols and materials databases

DNASUi 55800.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299333 ; ENSP00000299333 ; ENSG00000166257 .
ENST00000392770 ; ENSP00000376523 ; ENSG00000166257 .
ENST00000530277 ; ENSP00000432785 ; ENSG00000166257 .
GeneIDi 55800.
KEGGi hsa:55800.
UCSCi uc001pza.1. human.

Organism-specific databases

CTDi 55800.
GeneCardsi GC11M123533.
GeneReviewsi SCN3B.
HGNCi HGNC:20665. SCN3B.
HPAi HPA042518.
MIMi 608214. gene.
613120. phenotype.
neXtProti NX_Q9NY72.
Orphaneti 130. Brugada syndrome.
PharmGKBi PA130546912.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40812.
HOGENOMi HOG000276881.
HOVERGENi HBG056582.
InParanoidi Q9NY72.
KOi K04847.
OMAi LLIEMVY.
OrthoDBi EOG7M3J19.
PhylomeDBi Q9NY72.
TreeFami TF332097.

Enzyme and pathway databases

Reactomei REACT_22266. Interaction between L1 and Ankyrins.

Miscellaneous databases

GeneWikii SCN3B.
GenomeRNAii 55800.
NextBioi 60937.
PMAP-CutDB Q9NY72.
PROi Q9NY72.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NY72.
Bgeei Q9NY72.
CleanExi HS_SCN3B.
Genevestigatori Q9NY72.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR007110. 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 ]
PANTHERi PTHR10546. PTHR10546. 1 hit.
PTHR10546:SF1. PTHR10546:SF1. 1 hit.
Pfami PF07686. V-set. 1 hit.
[Graphical view ]
SMARTi SM00409. IG. 1 hit.
[Graphical view ]
PROSITEi PS50835. IG_LIKE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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. 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.

Entry informationi

Entry nameiSCN3B_HUMAN
AccessioniPrimary (citable) accession number: Q9NY72
Secondary accession number(s): A5H1I5, Q17RL3, Q9ULR2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: September 3, 2014
This is version 132 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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

External Data

Dasty 3

Similar proteinsi