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Q9Y6H6 (KCNE3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 112. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Potassium voltage-gated channel subfamily E member 3
Alternative name(s):
MinK-related peptide 2
Minimum potassium ion channel-related peptide 2
Potassium channel subunit beta MiRP2
Gene names
Name:KCNE3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length103 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion.

Subunit structure

Associates with KCNC4/Kv3.4. May associate with KCNQ1/KCLQT1.

Subcellular location

Membrane; Single-pass type I membrane protein.

Tissue specificity

Widely expressed with highest levels in kidney and moderate levels in small intestine. Ref.4

Involvement in disease

Brugada syndrome 6 (BRGDA6) [MIM:613119]: 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

Sequence similarities

Belongs to the potassium channel KCNE family.

Caution

Variant His-83 has been associated with periodic paralysis (Ref.5 and Ref.7). The association could not be confirmed by further studies leading to the conclusion that His-83 does not play a causative role in the disease (Ref.8 and Ref.9).

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 103103Potassium voltage-gated channel subfamily E member 3
PRO_0000144289

Regions

Transmembrane58 – 7821Helical; Potential
Topological domain79 – 10325Cytoplasmic Potential

Amino acid modifications

Glycosylation51N-linked (GlcNAc...) Potential
Glycosylation221N-linked (GlcNAc...) Potential
Glycosylation411N-linked (GlcNAc...) Potential

Natural variations

Natural variant41T → A. Ref.11
Corresponds to variant rs200856070 [ dbSNP | Ensembl ].
VAR_058635
Natural variant391P → R. Ref.11
Corresponds to variant rs34604640 [ dbSNP | Ensembl ].
VAR_058636
Natural variant831R → H in some patients with periodic paralysis; unknown pathological significance; alters voltage dependence, lowers current and diminishes open probability in KCNC4/KCNE3 channel; lowers current in KCNQ1/KCNE3 channel. Ref.5 Ref.7 Ref.8 Ref.9
Corresponds to variant rs17215437 [ dbSNP | Ensembl ].
VAR_015064
Natural variant991R → H in BRGDA6; also in a patient suffering from drug-induced torsades de pointes. Ref.10 Ref.11
Corresponds to variant rs121908441 [ dbSNP | Ensembl ].
VAR_058637

Experimental info

Mutagenesis901D → N: Decreases current 4-fold in KCNH2/KCNE3 channel. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Q9Y6H6 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 5235385E8D08BF10

FASTA10311,710
        10         20         30         40         50         60 
METTNGTETW YESLHAVLKA LNATLHSNLL CRPGPGLGPD NQTEERRASL PGRDDNSYMY 

        70         80         90        100 
ILFVMFLFAV TVGSLILGYT RSRKVDKRSD PYHVYIKNRV SMI 

« Hide

References

« Hide 'large scale' references
[1]Abbott G.W., Sesti F., Buck M.E., Goldstein S.A.N.
Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Structural determinants of KvLQT1 control by the KCNE family of proteins."
Melman Y.F., Domenech A., de La Luna S., McDonald T.V.
J. Biol. Chem. 276:6439-6444(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]"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: Blood.
[4]"A constitutively open potassium channel formed by KCNQ1 and KCNE3."
Schroeder B.C., Waldegger S., Fehr S., Bleich M., Warth R., Greger R., Jentsch T.J.
Nature 403:196-199(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: ASSOCIATION WITH KCNQ1, TISSUE SPECIFICITY.
[5]"MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis."
Abbott G.W., Butler M.H., Bendahhou S., Dalakas M.C., Ptacek L.J., Goldstein S.A.N.
Cell 104:217-231(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: ASSOCIATION WITH KCNC4, VARIANT HIS-83.
[6]"Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism."
Abbott G.W., Goldstein S.A.N.
FASEB J. 16:390-400(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: MUTAGENESIS OF ASP-90.
[7]"A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis."
Dias Da Silva M.R., Cerutti J.M., Arnaldi L.A.T., Maciel R.M.B.
J. Clin. Endocrinol. Metab. 87:4881-4884(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HIS-83.
[8]"Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis."
Sternberg D., Tabti N., Fournier E., Hainque B., Fontaine B.
Neurology 61:857-859(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: LACK OF ASSOCIATION OF VARIANT HIS-83 WITH PERIODIC PARALISIS.
[9]"Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation."
Jurkat-Rott K., Lehmann-Horn F.
Neurology 62:1012-1015(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: LACK OF ASSOCIATION OF VARIANT HIS-83 WITH PERIODIC PARALISIS.
[10]"Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome."
Delpon E., Cordeiro J.M., Nunez L., Thomsen P.E., Guerchicoff A., Pollevick G.D., Wu Y., Kanters J.K., Larsen C.T., Hofman-Bang J., Burashnikov E., Christiansen M., Antzelevitch C.
Circ. Arrhythm. Electrophysiol. 1:209-218(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BRGDA6 HIS-99.
[11]"Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome."
Ohno S., Toyoda F., Zankov D.P., Yoshida H., Makiyama T., Tsuji K., Honda T., Obayashi K., Ueyama H., Shimizu W., Miyamoto Y., Kamakura S., Matsuura H., Kita T., Horie M.
Hum. Mutat. 30:557-563(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ALA-4; ARG-39 AND HIS-99.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF076531 mRNA. Translation: AAD28089.1.
AF302494 mRNA. Translation: AAG16255.1.
BC032235 mRNA. No translation available.
RefSeqNP_005463.1. NM_005472.4.
UniGeneHs.523899.

3D structure databases

ProteinModelPortalQ9Y6H6.
SMRQ9Y6H6. Positions 40-99.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115326. 10 interactions.
IntActQ9Y6H6. 10 interactions.
MINTMINT-8247512.
STRING9606.ENSP00000310557.

Proteomic databases

PaxDbQ9Y6H6.
PRIDEQ9Y6H6.

Protocols and materials databases

DNASU10008.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310128; ENSP00000310557; ENSG00000175538.
ENST00000525550; ENSP00000433633; ENSG00000175538.
GeneID10008.
KEGGhsa:10008.
UCSCuc001ovc.3. human.

Organism-specific databases

CTD10008.
GeneCardsGC11M074165.
HGNCHGNC:6243. KCNE3.
HPAHPA014849.
MIM604433. gene.
613119. phenotype.
neXtProtNX_Q9Y6H6.
Orphanet130. Brugada syndrome.
681. Hypokalemic periodic paralysis.
PharmGKBPA393.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42036.
HOGENOMHOG000113209.
HOVERGENHBG052228.
InParanoidQ9Y6H6.
KOK04897.
OMAGPGPDNQ.
PhylomeDBQ9Y6H6.
TreeFamTF335981.

Gene expression databases

ArrayExpressQ9Y6H6.
BgeeQ9Y6H6.
CleanExHS_KCNE3.
GenevestigatorQ9Y6H6.

Family and domain databases

InterProIPR000369. K_chnl_volt-dep_bsu_KCNE.
IPR005426. K_chnl_volt-dep_bsu_KCNE3.
[Graphical view]
PfamPF02060. ISK_Channel. 1 hit.
[Graphical view]
PRINTSPR01606. KCNE3CHANNEL.
PR00168. KCNECHANNEL.
ProtoNetSearch...

Other

GeneWikiKCNE3.
GenomeRNAi10008.
NextBio37809.
PROQ9Y6H6.
SOURCESearch...

Entry information

Entry nameKCNE3_HUMAN
AccessionPrimary (citable) accession number: Q9Y6H6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: February 19, 2014
This is version 112 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 11

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