(data stored in ACNUC26070 zone)

HOGENOM: HS11_PE2412

ID   HS11_PE2412                          STANDARD;      PRT;   103 AA.
AC   HS11_PE2412; Q9Y6H6;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Potassium voltage-gated channel subfamily E member
DE   3;AltName: Full=MinK-related peptide 2;AltName: Full=Minimum potassium
DE   ion channel-related peptide 2;AltName: Full=Potassium channel subunit
DE   beta MiRP2; (HS11.PE2412).
GN   Name=KCNE3;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS11.PE2412.
CC       Homo sapiens chromosome 11 GRCh37  sequence 1..134946516 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:KCNE3_HUMAN
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: Membrane; Single-pass type I membrane
CC       protein.
CC   -!- TISSUE SPECIFICITY: Widely expressed with highest levels in kidney
CC       and moderate levels in small intestine.
CC   -!- DISEASE: Defects in KCNE3 are the cause of Brugada syndrome type 6
CC       (BRS6) [MIM:613119]. A tachyarrhythmia characterized by right
CC       bundle branch block and ST segment elevation on an
CC       electrocardiogram (ECG). It can cause the ventricles to beat so
CC       fast that the blood is prevented from circulating efficiently in
CC       the body. When this situation occurs (called ventricular
CC       fibrillation), the individual will faint and may die in a few
CC       minutes if the heart is not reset.
CC   -!- SIMILARITY: Belongs to the potassium channel KCNE family.
CC   -!- CAUTION: Variant His-83 has been associated with periodic
CC       paralysis (PubMed:11207363 and PubMed:12414843). The association
CC       could not be confirmed by further studies leading to the
CC       conclusion that His-83 does not play a causative role in the
CC       disease (PubMed:14504341 and PubMed:15037716).
CC   -!- GENE_FAMILY: HOG000113209 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000175538;ENST00000310128;ENSP00000310557.
DR   EMBL; AF076531; - ;
DR   EMBL; AF302494; - ;
DR   EMBL; AK311876; - ;
DR   EMBL; BC032235; - ;
DR   EMBL; BC110612; - ;
DR   EMBL; BC113743; - ;
DR   EMBL; CH471076; - ;
DR   EMBL; CR457209; - ;
DR   EMBL; CR936625; - ;
DR   EMBL; DQ192291; - ;
DR   EMBL; DQ192292; - ;
DR   EMBL; DQ784805; - ;
DR   UniProtKB/Swiss-Prot; Q9Y6H6; -.
DR   EMBL; AF076531; AAD28089.1; -; mRNA.
DR   EMBL; AF302494; AAG16255.1; -; mRNA.
DR   EMBL; BC032235; -; NOT_ANNOTATED_CDS; mRNA.
DR   IPI; IPI00002294; -.
DR   RefSeq; NP_005463.1; NM_005472.4.
DR   UniGene; Hs.523899; -.
DR   ProteinModelPortal; Q9Y6H6; -.
DR   STRING; Q9Y6H6; -.
DR   PRIDE; Q9Y6H6; -.
DR   Ensembl; ENST00000310128; ENSP00000310557; ENSG00000175538.
DR   GeneID; 10008; -.
DR   KEGG; hsa:10008; -.
DR   UCSC; uc001ovc.1; human.
DR   CTD; 10008; -.
DR   GeneCards; GC11M070461; -.
DR   H-InvDB; HIX0018453; -.
DR   HGNC; HGNC:6243; KCNE3.
DR   HPA; HPA014849; -.
DR   MIM; 604433; gene.
DR   MIM; 613119; phenotype.
DR   neXtProt; NX_Q9Y6H6; -.
DR   Orphanet; 130; Brugada syndrome.
DR   Orphanet; 681; Hypokalemic periodic paralysis.
DR   GeneTree; ENSGT00390000008537; -.
DR   InParanoid; Q9Y6H6; -.
DR   OMA; YKSLHAV; -.
DR   OrthoDB; EOG4B5P6P; -.
DR   PhylomeDB; Q9Y6H6; -.
DR   NextBio; 37809; -.
DR   ArrayExpress; Q9Y6H6; -.
DR   Bgee; Q9Y6H6; -.
DR   CleanEx; HS_KCNE3; -.
DR   Genevestigator; Q9Y6H6; -.
DR   GermOnline; ENSG00000175538; Homo sapiens.
DR   GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005249; F:voltage-gated potassium channel activity; IEA:InterPro.
DR   InterPro; IPR000369; K_chnl_volt-dep_bsu_KCNE.
DR   InterPro; IPR005426; K_chnl_volt-dep_bsu_KCNE3.
DR   Pfam; PF02060; ISK_Channel; 1.
DR   PRINTS; PR01606; KCNE3CHANNEL.
DR   PRINTS; PR00168; KCNECHANNEL.
DR   HOGENOMDNA; HS11.PE2412; -.
KW   ENSG000001755381755old_1320000031; ENSP000003105577901old_1320000031;
KW   Q2N1I1_HUMAN; Q6IAE6_HUMAN; AF076531; AF302494; AK311876; BC032235;
KW   BC113743; CH471076; CR457209; CR936625; DQ192291; DQ192292; DQ784805;
KW   Brugada syndrome; Complete proteome; Disease mutation; Glycoprotein;
KW   Ion transport; Ionic channel; Membrane; Polymorphism; Potassium;
KW   Potassium channel; Potassium transport; Reference proteome;
KW   Transmembrane; Transmembrane helix; Transport; Voltage-gated channel.
SQ   SEQUENCE   103 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     METTNGTETW YESLHAVLKA LNATLHSNLL CRPGPGLGPD NQTEERRASL PGRDDNSYMY
     ILFVMFLFAV TVGSLILGYT RSRKVDKRSD PYHVYIKNRV SMI
//

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