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Search results 701 to 800 out of 802 for Kcnq1

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Type Details Score
Allele
Kcnq1ot1<Gt(IST14007E10)Tigm> | MGI:5204114
 
Name: KCNQ1 overlapping transcript 1; gene trap IST14007E10, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Publication
18039842 | J:130398
First Author: Wagschal A
Year: 2008
Journal: Mol Cell Biol
Title: G9a histone methyltransferase contributes to imprinting in the mouse placenta.
Volume: 28
Issue: 3
Pages: 1104-13
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Allele
Kcnq1<tm3Kpfe> | MGI:3056651
Name: potassium voltage-gated channel, subfamily Q, member 1; targeted mutation 3, Karl Pfeifer
Allele Type: Targeted
Attribute String: Dominant negative, Humanized sequence
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Publication
35108116 | J:351483
First Author: Durr AJ
Year: 2022
Journal: Am J Physiol Cell Physiol
Title: Manipulation of the miR-378a/mt-ATP6 regulatory axis rescues ATP synthase in the diabetic heart and offers a novel role for lncRNA Kcnq1ot1.
Volume: 322
Issue: 3
Pages: C482-C495
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Publication
32060985 | J:304938
First Author: Chen L
Year: 2020
Journal: FASEB J
Title: LncRNA KCNQ1OT1 accelerates fracture healing via modulating miR-701-3p/FGFR3 axis.
Volume: 34
Issue: 4
Pages: 5208-5222
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Protein
A0A087WNY7
Organism: Mus musculus/domesticus
Length: 440  
Fragment?: false
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Protein
Q8CJG2
Organism: Mus musculus/domesticus
Length: 440  
Fragment?: false
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Transgene
MGI:5575887 | Tg(Myh6-KCNQ1_i2)H02Desc
Type: transgene
Organism: mouse, laboratory
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Transgene
MGI:5575888 | Tg(Myh6-KCNQ1_i2)H05Desc
Type: transgene
Organism: mouse, laboratory
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Genotype
Genotype
Symbol: Kcnq1/Kcnq1<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N
Zygosity: ht
Has Mutant Allele: true
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DO Term
DOID:0110644 | long QT syndrome 1
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Strain
MGI:6475640 | C57BL/6JSmoc-Kcnq1<em1Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Publication
11719692 | J:73452
First Author: Bourc'his D
Year: 2001
Journal: Science
Title: Dnmt3L and the establishment of maternal genomic imprints.
Volume: 294
Issue: 5551
Pages: 2536-9
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Publication
19684026 | J:153719
First Author: Lefebvre L
Year: 2009
Journal: Hum Mol Genet
Title: The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith-Wiedemann region.
Volume: 18
Issue: 22
Pages: 4255-67
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Publication
28943313 | J:251884
First Author: Lee CC
Year: 2017
Journal: Mol Cell
Title: The Role of N-α-acetyltransferase 10 Protein in DNA Methylation and Genomic Imprinting.
Volume: 68
Issue: 1
Pages: 89-103.e7
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Publication
23486912 | J:202072
First Author: Negrón-Pérez VM
Year: 2013
Journal: Biol Reprod
Title: Determination of allelic expression of h19 in pre- and peri-implantation mouse embryos.
Volume: 88
Issue: 4
Pages: 97
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Publication
24337315 | J:332803
First Author: de Waal E
Year: 2014
Journal: Biol Reprod
Title: In vitro culture increases the frequency of stochastic epigenetic errors at imprinted genes in placental tissues from mouse concepti produced through assisted reproductive technologies.
Volume: 90
Issue: 2
Pages: 22
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S4/SvJae * C57BL/6J * FVB/N
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S4/SvJae * C57BL/6 * FVB/N
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S4/SvJae * C57BL/6 * FVB/N
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * C57BL/6 * M. spretus
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * C57BL/6 * M. spretus
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * C57BL/6 * M. spretus
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * C57BL/6 * M. spretus
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * M. spretus
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv * M. spretus
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129S1/Sv
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+>
Background: (C57BL/6J-Chr 7/Msb x 129S1/Sv-Kcnq1ot1)F1
Zygosity: ht
Has Mutant Allele: true
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Protein
P97414
Organism: Mus musculus/domesticus
Length: 668  
Fragment?: false
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Allele
Kcnq1<tm1Kpfe> | MGI:2680653
Name: potassium voltage-gated channel, subfamily Q, member 1; targeted mutation 1, Karl Pfeifer
Allele Type: Targeted
Attribute String: Null/knockout
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Publication
10838601 | -
First Author: Sanguinetti MC
Year: 2000
Journal: Trends Pharmacol Sci
Title: Maximal function of minimal K+ channel subunits.
Volume: 21
Issue: 6
Pages: 199-201
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Publication
8528244 | -
First Author: Wang Q
Year: 1996
Journal: Nat Genet
Title: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
Volume: 12
Issue: 1
Pages: 17-23
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Publication
9430594 | -
First Author: Biervert C
Year: 1998
Journal: Science
Title: A potassium channel mutation in neonatal human epilepsy.
Volume: 279
Issue: 5349
Pages: 403-6
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Genotype
Genotype
Symbol: Kcnq1/Kcnq1
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+> Del(7Ins2-Tel)1Lef/?
Background: involves: 129 * C57BL/6 * ICR
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+> Meox2/Meox2<+>
Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SD7
Zygosity: cn
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Kcnq1ot1/Kcnq1ot1<+> Tg(CAG-cre/Esr1*)5Amc/?
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SD7
Zygosity: cn
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Ascl2/Ascl2<+> Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129 * C57BL/6 * ICR
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cdkn1c/Cdkn1c<+> Kcnq1ot1/Kcnq1ot1<+>
Background: involves: 129 * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Publication
21172659 | J:168094
First Author: Zhao J
Year: 2010
Journal: Mol Cell
Title: Genome-wide identification of polycomb-associated RNAs by RIP-seq.
Volume: 40
Issue: 6
Pages: 939-53
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Publication
16987518 | J:112969
First Author: Ogawa H
Year: 2006
Journal: FEBS Lett
Title: Disruption of parental-specific expression of imprinted genes in uniparental fetuses.
Volume: 580
Issue: 22
Pages: 5377-84
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Allele
Tg(Myh6-KCNQ1_i2)H08Desc | MGI:5575892
Name: transgene insertion H08, Denis Escande
Allele Type: Transgenic
Attribute String: Dominant negative, Humanized sequence, Inserted expressed sequence
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Allele
Tg(BAC144D14)5A2Masu | MGI:5825056
Name: transgene insertion 5A2, M Azim Surani
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Allele
Tg(BAC144D14)5D3Masu | MGI:5825057
Name: transgene insertion 5D3, M Azim Surani
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Publication
11334835 | J:132483
First Author: Demolombe S
Year: 2001
Journal: Cardiovasc Res
Title: Transgenic mice overexpressing human KvLQT1 dominant-negative isoform. Part I: Phenotypic characterisation.
Volume: 50
Issue: 2
Pages: 314-27
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Strain
MGI:5825062 | B6J.Cg-Tg(BAC144D14)5A2Masu
Attribute String: transgenic, mutant strain, congenic
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Strain
MGI:6199143 | B6.Cg-Tg(BAC144D14)5D3Masu
Attribute String: congenic, mutant strain, transgenic
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Strain
MGI:5825058 | B6J.Cg-Tg(BAC144D14)5D3Masu
Attribute String: congenic, mutant strain, transgenic
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Publication
27798108 | J:239325
First Author: McNamara GI
Year: 2016
Journal: Hum Mol Genet
Title: Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome.
Volume: 25
Issue: 24
Pages: 5407-5417
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Genotype
Genotype
Symbol: Tg(Myh6-KCNQ1_i2)H08Desc/?
Background: involves: FVB
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tg(BAC144D14)5D3Masu/?
Background: B6J.Cg-Tg(BAC144D14)5D3Masu
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tg(BAC144D14)5A2Masu/?
Background: B6J.Cg-Tg(BAC144D14)5A2Masu
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tg(BAC144D14)5D3Masu/?
Background: B6.Cg-Tg(BAC144D14)5D3Masu
Zygosity: ot
Has Mutant Allele: true
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Publication
10493825 | J:57928
First Author: Piccini M
Year: 1999
Journal: Genomics
Title: KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.
Volume: 60
Issue: 3
Pages: 251-7
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HT Experiment
E-GEOD-7674 | Transcription profiling of mouse G9a-/- knockouts vs controls reveals G9a histone methyltransferase maintains genomic imprinting IN THE mouse placenta
Series Id: GSE7674
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
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Publication
26963625 | J:232408
First Author: Van De Pette M
Year: 2016
Journal: PLoS Genet
Title: Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.
Volume: 12
Issue: 3
Pages: e1005916
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Publication
17517131 | J:126494
 
First Author: Andrews SC
Year: 2007
Journal: BMC Dev Biol
Title: Cdkn1c (p57Kip2) is the major regulator of embryonic growth within its imprinted domain on mouse distal chromosome 7.
Volume: 7
Pages: 53
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Publication
11468278 | J:70843
First Author: John RM
Year: 2001
Journal: Hum Mol Genet
Title: Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome.
Volume: 10
Issue: 15
Pages: 1601-9
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Publication
11414731 | J:70160
First Author: Chabannes D
Year: 2001
Journal: Cell Immunol
Title: Mice disrupted for the KvLQT1 potassium channel regulator IsK gene accumulate mature T cells.
Volume: 209
Issue: 1
Pages: 1-9
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Publication
19767733 | J:154301
First Author: Roepke TK
Year: 2009
Journal: Nat Med
Title: Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis.
Volume: 15
Issue: 10
Pages: 1186-94
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Publication
2451788 | J:9129
First Author: Tempel BL
Year: 1988
Journal: Nature
Title: Cloning of a probable potassium channel gene from mouse brain.
Volume: 332
Issue: 6167
Pages: 837-9
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Publication
1772658 | -
First Author: Perney TM
Year: 1991
Journal: Curr Opin Cell Biol
Title: The molecular biology of K+ channels.
Volume: 3
Issue: 4
Pages: 663-70
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Publication
1879548 | -
First Author: Luneau C
Year: 1991
Journal: FEBS Lett
Title: Shaw-like rat brain potassium channel cDNA's with divergent 3' ends.
Volume: 288
Issue: 1-2
Pages: 163-7
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Publication
1373731 | J:931
First Author: Attali B
Year: 1992
Journal: J Biol Chem
Title: Cloning, functional expression, and regulation of two K+ channels in human T lymphocytes.
Volume: 267
Issue: 12
Pages: 8650-7
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Publication
2448635 | -
First Author: Schwarz TL
Year: 1988
Journal: Nature
Title: Multiple potassium-channel components are produced by alternative splicing at the Shaker locus in Drosophila.
Volume: 331
Issue: 6152
Pages: 137-42
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Publication
2555158 | -
First Author: Stühmer W
Year: 1989
Journal: EMBO J
Title: Molecular basis of functional diversity of voltage-gated potassium channels in mammalian brain.
Volume: 8
Issue: 11
Pages: 3235-44
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Publication
11178249 | -
First Author: Miller C
Year: 2000
Journal: Genome Biol
Title: An overview of the potassium channel family.
Volume: 1
Issue: 4
Pages: REVIEWS0004
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Publication
22595876 | J:186763
First Author: de la Casa Esperón E
Year: 2012
Journal: Epigenetics
Title: A genomic reservoir for Tnfrsf genes is developmentally regulated and imprinted in the mouse.
Volume: 7
Issue: 6
Pages: 626-34
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Publication
20547750 | J:162781
First Author: Weaver JR
Year: 2010
Journal: Mol Cell Biol
Title: Domain-specific response of imprinted genes to reduced DNMT1.
Volume: 30
Issue: 16
Pages: 3916-28
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Publication
11438691 | J:77288
First Author: Arrighi I
Year: 2001
Journal: Proc Natl Acad Sci U S A
Title: Altered potassium balance and aldosterone secretion in a mouse model of human congenital long QT syndrome.
Volume: 98
Issue: 15
Pages: 8792-7
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Publication
11714488 | J:96707
First Author: Puchalski RB
Year: 2001
Journal: Physiol Behav
Title: NaCl consumption is attenuated in female KCNE1 null mutant mice.
Volume: 74
Issue: 3
Pages: 267-76
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Publication
21576273 | J:189403
First Author: Neal AM
Year: 2011
Journal: J Physiol
Title: Renal defects in KCNE1 knockout mice are mimicked by chromanol 293B in vivo: identification of a KCNE1-regulated K+ conductance in the proximal tubule.
Volume: 589
Issue: Pt 14
Pages: 3595-609
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Publication
16754665 | J:116518
First Author: Roepke TK
Year: 2006
Journal: J Biol Chem
Title: The KCNE2 potassium channel ancillary subunit is essential for gastric acid secretion.
Volume: 281
Issue: 33
Pages: 23740-7
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Publication
15947250 | J:110250
First Author: Temple J
Year: 2005
Journal: Circ Res
Title: Atrial fibrillation in KCNE1-null mice.
Volume: 97
Issue: 1
Pages: 62-9
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Publication
39067415 | J:358542
 
First Author: Chen J
Year: 2024
Journal: Hear Res
Title: A new mutation of Sgms1 causes gradual hearing loss associated with a reduced endocochlear potential.
Volume: 451
Pages: 109091
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Publication
31461851 | J:284771
 
First Author: Li Y
Year: 2019
Journal: Cells
Title: Regulation of IKs Potassium Current by Isoproterenol in Adult Cardiomyocytes Requires Type 9 Adenylyl Cyclase.
Volume: 8
Issue: 9
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Publication
35954259 | J:352988
 
First Author: Hollenhorst MI
Year: 2022
Journal: Cells
Title: Taste Receptor Activation in Tracheal Brush Cells by Denatonium Modulates ENaC Channels via Ca(2+), cAMP and ACh.
Volume: 11
Issue: 15
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Publication
20625512 | J:163121
First Author: Roepke TK
Year: 2010
Journal: PLoS One
Title: Targeted deletion of Kcne2 causes gastritis cystica profunda and gastric neoplasia.
Volume: 5
Issue: 7
Pages: e11451
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Publication
28280005 | J:246493
First Author: Lee SM
Year: 2017
Journal: FASEB J
Title: Kcne2 deletion impairs insulin secretion and causes type 2 diabetes mellitus.
Volume: 31
Issue: 6
Pages: 2674-2685
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Publication
25127743 | J:230226
First Author: Salsbury G
Year: 2014
Journal: Exp Hematol
Title: Disruption of the potassium channel regulatory subunit KCNE2 causes iron-deficient anemia.
Volume: 42
Issue: 12
Pages: 1053-8.e1
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Publication
19832729 | J:175595
First Author: Mansén A
Year: 2010
Journal: Acta Physiol (Oxf)
Title: Thyroid hormone receptor alpha can control action potential duration in mouse ventricular myocytes through the KCNE1 ion channel subunit.
Volume: 198
Issue: 2
Pages: 133-42
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Publication
22778270 | J:270985
First Author: Li Y
Year: 2012
Journal: J Biol Chem
Title: The A-kinase anchoring protein Yotiao facilitates complex formation between adenylyl cyclase type 9 and the IKs potassium channel in heart.
Volume: 287
Issue: 35
Pages: 29815-24
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Publication
24866791 | J:305866
First Author: Liu C
Year: 2014
Journal: Infect Immun
Title: Gastric de novo Muc13 expression and spasmolytic polypeptide-expressing metaplasia during Helicobacter heilmannii infection.
Volume: 82
Issue: 8
Pages: 3227-39
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Publication
22641779 | J:200056
First Author: Lu MH
Year: 2012
Journal: J Physiol
Title: Deficiency of sphingomyelin synthase-1 but not sphingomyelin synthase-2 causes hearing impairments in mice.
Volume: 590
Issue: 16
Pages: 4029-44
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Publication
15320950 | J:101834
 
First Author: Wangemann P
Year: 2004
Journal: BMC Med
Title: Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model.
Volume: 2
Pages: 30
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Publication
34408646 | J:324362
 
First Author: Peixoto Pinheiro B
Year: 2021
Journal: Front Aging Neurosci
Title: Auditory Threshold Variability in the SAMP8 Mouse Model of Age-Related Hearing Loss: Functional Loss and Phenotypic Change Precede Outer Hair Cell Loss.
Volume: 13
Pages: 708190
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Publication
31649729 | J:311748
 
First Author: Malloy MA
Year: 2019
Journal: Front Genet
Title: Perinatal Bisphenol A Exposure and Reprogramming of Imprinted Gene Expression in the Adult Mouse Brain.
Volume: 10
Pages: 951
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Publication
19219384 | -
First Author: McCrossan ZA
Year: 2009
Journal: J Membr Biol
Title: Regulation of the Kv2.1 potassium channel by MinK and MiRP1.
Volume: 228
Issue: 1
Pages: 1-14
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Publication
11207363 | -
First Author: Abbott GW
Year: 2001
Journal: Cell
Title: MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.
Volume: 104
Issue: 2
Pages: 217-31
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Protein Domain
IPR005424 | KCNE1
Type: Family
Description: KCNE1 (Potassium voltage-gated channel subfamily E member 1, also known as Mink) subunits associate with KCNQ1 alpha subunits to form channels that are responsible for the IkS currents that determine the duration of the action potential in cardiac muscle []. Mutations in both of the genes encoding these subunits cause an inherited disorder that increases the risk of death from cardiac arrhythmia (long QT syndrome type 1) and Jervell and Lange-Nielsen syndrome, associated with congenital deafness [].Two types of beta subunit (KCNE and KCNAB) are presently known to associate with voltage-gated alpha subunits (Kv, KCNQ and eag-like). However, not all combinations of alpha and beta subunits are possible. The KCNE family of K+ channel subunits are membrane glycoproteins that possess a single transmembrane (TM) domain. They share no structural relationship with the alpha subunit proteins, which possess pore forming domains. The subunits appear to have a regulatory function, modulating the kinetics and voltage dependence of the alpha subunits of voltage-dependent K+ channels. KCNE subunits are formed from short polypeptides of ~130 amino acids, and are divided into five subfamilies: KCNE1 (MinK/IsK), KCNE2 (MiRP1), KCNE3 (MiRP2), KCNE4 (MiRP3) and KCNE1L (AMMECR2). Potassium channels are the most diverse group of the ion channel family [, ]. They are important in shaping the action potential, and in neuronal excitability and plasticity []. The potassium channel family is composed of several functionally distinct isoforms, which can be broadly separated into 2 groups []: the practically non-inactivating 'delayed' group and the rapidly inactivating 'transient' group.These are all highly similar proteins, with only small amino acid changes causing the diversity of the voltage-dependent gating mechanism, channel conductance and toxin binding properties. Each type of K+channel is activated by different signals and conditions depending on their type of regulation: some open in response to depolarisation of the plasma membrane; others in response to hyperpolarisation or an increase in intracellular calcium concentration; some can be regulated by binding of a transmitter, together with intracellular kinases; while others are regulated by GTP-binding proteins or other second messengers []. In eukaryotic cells, K+channels are involved in neural signalling and generation of the cardiac rhythm, act as effectors in signal transduction pathways involving G protein-coupled receptors (GPCRs) and may have a role in target cell lysis by cytotoxic T-lymphocytes []. In prokaryotic cells, they play a role in the maintenance of ionic homeostasis [].All K+channels discovered so far possess a core of alpha subunits, each comprising either one or two copies of a highly conserved pore loop domain (P-domain). The P-domain contains the sequence (T/SxxTxGxG), which has been termed the K+selectivity sequence. In families that contain one P-domain, four subunits assemble to form a selective pathway for K+across the membrane. However, it remains unclear how the 2 P-domain subunits assemble to form a selective pore. The functional diversity of these families can arise through homo- or hetero-associations of alpha subunits or association with auxiliary cytoplasmic beta subunits. K+channel subunits containing one pore domain can be assigned into one of two superfamilies: those that possess six transmembrane (TM) domains and those that possess only two TM domains. The six TM domain superfamily can be further subdivided into conserved gene families: the voltage-gated (Kv) channels; the KCNQ channels (originally known as KvLQT channels); the EAG-like K+channels; and three types of calcium (Ca)-activated K+channels (BK, IK and SK) []. The 2TM domain family comprises inward-rectifying K+channels. In addition, there are K+channel alpha-subunits that possess two P-domains. These are usually highly regulated K+selective leak channels.
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Protein Domain
IPR005426 | K_chnl_volt-dep_bsu_KCNE3
Type: Family
Description: Potassium channels are the most diverse group of the ion channel family [, ]. They are important in shaping the action potential, and in neuronal excitability and plasticity []. The potassium channel family is composed of several functionally distinct isoforms, which can be broadly separated into 2 groups []: the practically non-inactivating 'delayed' group and the rapidly inactivating 'transient' group.These are all highly similar proteins, with only small amino acid changes causing the diversity of the voltage-dependent gating mechanism, channel conductance and toxin binding properties. Each type of K+channel is activated by different signals and conditions depending on their type of regulation: some open in response to depolarisation of the plasma membrane; others in response to hyperpolarisation or an increase in intracellular calcium concentration; some can be regulated by binding of a transmitter, together with intracellular kinases; while others are regulated by GTP-binding proteins or other second messengers []. In eukaryotic cells, K+channels are involved in neural signalling and generation of the cardiac rhythm, act as effectors in signal transduction pathways involving G protein-coupled receptors (GPCRs) and may have a role in target cell lysis by cytotoxic T-lymphocytes []. In prokaryotic cells, they play a role in the maintenance of ionic homeostasis [].All K+channels discovered so far possess a core of alpha subunits, each comprising either one or two copies of a highly conserved pore loop domain (P-domain). The P-domain contains the sequence (T/SxxTxGxG), which has been termed the K+selectivity sequence. In families that contain one P-domain, four subunits assemble to form a selective pathway for K+across the membrane. However, it remains unclear how the 2 P-domain subunits assemble to form a selective pore. The functional diversity of these families can arise through homo- or hetero-associations of alpha subunits or association with auxiliary cytoplasmic beta subunits. K+channel subunits containing one pore domain can be assigned into one of two superfamilies: those that possess six transmembrane (TM) domains and those that possess only two TM domains. The six TM domain superfamily can be further subdivided into conserved gene families: the voltage-gated (Kv) channels; the KCNQ channels (originally known as KvLQT channels); the EAG-like K+channels; and three types of calcium (Ca)-activated K+channels (BK, IK and SK) []. The 2TM domain family comprises inward-rectifying K+channels. In addition, there are K+channel alpha-subunits that possess two P-domains. These are usually highly regulated K+selective leak channels.Two types of beta subunit (KCNE and KCNAB) are presently known to associate with voltage-gated alpha subunits (Kv, KCNQ and eag-like). However, not all combinations of alpha and beta subunits are possible. The KCNE family of K+ channel subunits are membrane glycoproteins that possess a single transmembrane (TM) domain. They share no structural relationship with the alpha subunit proteins, which possess pore forming domains. The subunits appear to have a regulatory function, modulating the kinetics and voltage dependence of the alpha subunits of voltage-dependent K+ channels. KCNE subunits are formed from short polypeptides of ~130 amino acids, and are divided into five subfamilies: KCNE1 (MinK/IsK), KCNE2 (MiRP1), KCNE3 (MiRP2), KCNE4 (MiRP3) and KCNE1L (AMMECR2). KCNE3 is known to associate with the pore forming subunits KCNQ1, KCNQ4,HERG and Kv3.4. KCNE3 forms complexes with Kv3.4 in skeletal muscle -KCNE3 mutations have been identified in families with skeletal muscledisorders []. In the intestine, KCNE3 associates with KCNQ1 to formchannels that are stimulated by cAMP and are thought to be involved insecretory diarrhoea and cystic fibrosis [].
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Publication
12904583 | J:85162
First Author: Hansen J
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome.
Volume: 100
Issue: 17
Pages: 9918-22
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Publication
- | J:80155
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data
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Publication
- | J:57656
     
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
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Protein
Q9WTW2
Organism: Mus musculus/domesticus
Length: 103  
Fragment?: false
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Protein
P23299
Organism: Mus musculus/domesticus
Length: 129  
Fragment?: false
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Protein
Q545H9
Organism: Mus musculus/domesticus
Length: 103  
Fragment?: false
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Protein
Q545H6
Organism: Mus musculus/domesticus
Length: 129  
Fragment?: false
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Publication
18799693 | J:142754
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
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