Swiss-Prot entry
ID KCNE3_HUMAN STANDARD; PRT; 103 AA.
AC Q9Y6H6;
DT 30-MAY-2000 (Rel. 39, Created)
DT 30-MAY-2000 (Rel. 39, Last sequence update)
DT 10-MAY-2005 (Rel. 47, Last annotation update)
DE Potassium voltage-gated channel subfamily E member 3 (Minimum
DE potassium ion channel-related peptide 2) (Potassium channel beta
DE subunit MiRP2) (MinK-related peptide 2).
GN Name=KCNE3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE.
RA Abbott G.W., Sesti F., Buck M.E., Goldstein S.A.N.;
RL Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE.
RX PubMed=11104781 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1074/jbc.M010713200;
RA Melman Y.F., Domenech A., de La Luna S., McDonald T.V.;
RT "Structural determinants of KvLQT1 control by the KCNE family of
RT proteins.";
RL J. Biol. Chem. 276:6439-6444(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Blood;
RX MEDLINE=22388257; PubMed=12477932 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1073/pnas.242603899;
RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G.,
RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D.,
RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K.,
RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F.,
RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L.,
RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E.,
RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C.,
RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J.,
RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H.,
RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W.,
RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A.,
RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A.,
RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G.,
RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C.,
RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M.,
RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E.,
RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.;
RT "Generation and initial analysis of more than 15,000 full-length human
RT and mouse cDNA sequences.";
RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002).
RN [4]
RP ASSOCIATION WITH KCNQ1, AND TISSUE SPECIFICITY.
RX MEDLINE=20110524; PubMed=10646604 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1038/35003200;
RA Schroeder B.C., Waldegger S., Fehr S., Bleich M., Warth R., Greger R.,
RA Jentsch T.J.;
RT "A constitutively open potassium channel formed by KCNQ1 and KCNE3.";
RL Nature 403:196-199(2000).
RN [5]
RP ASSOCIATION WITH KCNC4, AND VARIANT HYPOKPP HIS-83.
RX MEDLINE=21124828; PubMed=11207363 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/S0092-8674(01)00207-0;
RA Abbott G.W., Butler M.H., Bendahhou S., Dalakas M.C., Ptacek L.J.,
RA Goldstein S.A.N.;
RT "MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is
RT associated with periodic paralysis.";
RL Cell 104:217-231(2001).
RN [6]
RP MUTAGENESIS OF ASP-90.
RX MEDLINE=21863999; PubMed=11874988 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1096/fj.01-0520hyp;
RA Abbott G.W., Goldstein S.A.N.;
RT "Disease-associated mutations in KCNE potassium channel subunits
RT (MiRPs) reveal promiscuous disruption of multiple currents and
RT conservation of mechanism.";
RL FASEB J. 16:390-400(2002).
RN [7]
RP VARIANT TPP HIS-83.
RX PubMed=12414843 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.2002-020698;
RA Dias Da Silva M.R., Cerutti J.M., Arnaldi L.A.T., Maciel R.M.B.;
RT "A mutation in the KCNE3 potassium channel gene is associated with
RT susceptibility to thyrotoxic hypokalemic periodic paralysis.";
RL J. Clin. Endocrinol. Metab. 87:4881-4884(2002).
CC -!- FUNCTION: Ancillary protein that assembles as a beta subunit with
CC a voltage-gated potassium channel complex of pore-forming alpha
CC subunits. Modulates the gating kinetics and enhances stability of
CC the channel complex. Associated with KCNC4/Kv3.4 is proposed to
CC form the subthreshold voltage-gated potassium channel in skeletal
CC muscle and to establish the resting membrane potential (RMP) in
CC muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal
CC cAMP-stimulated potassium channel involved in chloride secretion.
CC -!- SUBUNIT: Associates with KCNC4/Kv3.4. May associate with
CC KCNQ1/KCLQT1.
CC -!- SUBCELLULAR LOCATION: Type I membrane protein.
CC -!- TISSUE SPECIFICITY: Widely expressed with highest levels in kidney
CC and moderate levels in small intestine.
CC -!- DISEASE: Defects in KCNE3 are a cause of hypokalemic periodic
CC paralysis (HYPOKPP) [MIM:170400]; also designated HOKPP. HYPOKPP
CC is an autosomal dominant disorder manifested by episodic muscle
CC weakness associated with low serum potassium. Muscle weakness
CC could be due to altered excitation-contraction coupling in HYPOKPP
CC patients.
CC -!- DISEASE: Defects in KCNE3 are a cause of thyrotoxic hypokalemic
CC periodic paralysis (TPP) [MIM:188580]. TPP is seen in individuals
CC of all races and manifests as attacks of episodic weakness with
CC hypokalemia during thyrotoxicosis. TPP is seen most commonly in
CC young Latin American or Asian men where up to 10% of thyrotoxic
CC patients may have periodic paralysis. In such patients
CC thyrotoxicosis has often been overlooked for many months. TPP
CC generally occurs as a sporadic disease, and the periodic paralysis
CC resolves completely with treatment of the thyrotoxicosis, although
CC the muscle phenotype returns if the patient becomes thyrotoxic
CC again later.
CC -!- SIMILARITY: Belongs to the potassium channel KCNE family.
CC --------------------------------------------------------------------------
CC This Swiss-Prot entry is copyright. It is produced through a collaboration
CC between the Swiss Institute of Bioinformatics and the EMBL outstation -
CC the European Bioinformatics Institute. There are no restrictions on its
CC use as long as its content is in no way modified and this statement is not
CC removed.
CC --------------------------------------------------------------------------
DR EMBL; AF076531; AAD28089.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; AF302494; AAG16255.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; BC032235; -; NOT_ANNOTATED_CDS; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR Ensembl; ENSG00000175538; Homo_sapiens
DR HGNC; HGNC:6243; KCNE3.
DR CleanEx; HGNC:6243; KCNE3.
DR MIM; 604433; -. [NCBI / EBI]
DR GeneCards; KCNE3.
DR GeneLynx; KCNE3.
DR GenAtlas; KCNE3.
DR SOURCE; KCNE3.
DR MIM; 170400; -. [NCBI / EBI]
DR MIM; 188580; -. [NCBI / EBI]
DR InterPro; IPR000369; ISK_Channel.
DR InterPro; IPR005426; KCNE_beta3.
DR InterPro; Graphical view of domain structure.
DR PRINTS; PR01606; KCNE3CHANNEL.
DR PRINTS; PR00168; KCNECHANNEL.
DR CMR; Q9Y6H6.
DR ProDom [Domain structure / List of seq. sharing at least 1 domain]
DR HOVERGEN [Family / Alignment / Tree]
DR BLOCKS; Q9Y6H6.
DR ProtoNet; Q9Y6H6.
DR ProtoMap; Q9Y6H6.
DR PRESAGE; Q9Y6H6.
DR DIP; Q9Y6H6.
DR ModBase; Q9Y6H6.
DR SWISS-2DPAGE; GET REGION ON 2D PAGE.
KW Disease mutation; Glycoprotein; Ion transport; Ionic channel;
KW Potassium; Potassium channel; Potassium transport; Transmembrane;
KW Transport; Voltage-gated channel.
FT TRANSMEM 58 78 Potential.
FT TOPO_DOM 79 103 Cytoplasmic (Potential).
FT CARBOHYD 5 5 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 22 22 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 41 41 N-linked (GlcNAc...) (Potential).
FT VARIANT 83 83 R -> H (in HYPOKPP and TPP; alters
FT voltage dependence, lowers current and
FT diminishes open probability in KCNC4/
FT KCNE3 channel; lowers current in KCNQ1/
FT KCNE3 channel).
FT /FTId=VAR_015064.
FT MUTAGEN 90 90 D->N: Decreases current 4-fold in
FT KCNH2/KCNE3 channel.
SQ SEQUENCE 103 AA; 11710 MW; 5235385E8D08BF10 CRC64;
METTNGTETW YESLHAVLKA LNATLHSNLL CRPGPGLGPD NQTEERRASL PGRDDNSYMY
ILFVMFLFAV TVGSLILGYT RSRKVDKRSD PYHVYIKNRV SMI
//