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PR01460

Identifier
KCNQ1CHANNEL  [View Relations]  [View Alignment]  
Accession
PR01460
No. of Motifs
9
Creation Date
14-NOV-2000
Title
KCNQ1 voltage-gated potassium channel signature
Database References
PRINTS; PR00169 KCHANNEL; PR01459 KCNQCHANNEL
Literature References
1. MILLER, C. 
An overview of the potassium channel family. 
GENOME BIOL. 1(4) 1-5 (2000). 
 
2. ASHCROFT, F.M. 
Voltage-gated K+ channels.
IN ION CHANNELS AND DISEASE, ACADEMIC PRESS, 2000, PP.111-116.
 
3. SANGUINETTI, M. C.
Maximal function of minimal K+ channel subunits.
TRENDS PHARMACOL.SCI. 21 199-201 (2000).
 
4. WANG Q., CURRAN, M.E., SPLAWSKI, I., BURN, T.C., MILLHOLLAND, J.M.,
VANRAAY, T.J., SHEN, J., TIMOTHY, K.W., VINCENT, G.M., DE JAGER, T.,
SCHWARTZ, P.J., TOUBIN, J.A., MOSS, A.J., ATKINSON, D.L., LANDES, G.M.,
CONNORS, T.D. AND KEATING, M.T. 
Positional cloning of a novel potassium channel gene: KVLQT1 mutations
cause cardiac arrhythmias.
NAT.GENET. 12(1) 17-23 (1996).
 
5. BIERVERT, C., SCHROEDER, B.C., KUBISCH, C., BERKOVIC, S.F., PROPPING, P.,
JENTSCH, T.J. AND STEINLEIN, O.K. 
A potassium channel mutation in neonatal human epilepsy.
SCIENCE 279 403-406 (1998).
 
6. SANGUINETTI, M.C., CURRAN, M.E., ZOU, A., SHEN, J., SPECTOR, P.S.,
ATKINSON, D.L. AND KEATING, M.T.
Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks)
potassium channel.
NATURE 384 80-83 (1996).
 
7. NEYROUD, N., TESSON, F., DENJOY, I., LEIBOVICI, M., DONGER, C.,
BARHANIN, J., FAURE, S., GARY, F., COUMEL, P., PETIT, C., SCHWARTZ, K.
AND GUICHENEY, P.
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell
and Lange-Nielsen cardioauditory syndrome.
NAT.GENET. 15(2) 186-189 (1997).

Documentation
Potassium ion (K+) channels are a structurally diverse group of proteins
that facilitate the flow of K+ ions across cell membranes. They are
ubiquitous, being present in virtually all cell types. Activation of K+
channels tends to hyperpolarise cells, reducing the membrane's electrical
resistance, dampening nervous activity. In eukaryotic cells, K+ channels
are involved in neural signalling and generation of the cardiac rhythm, and
act as effectors in signal transduction pathways involving G protein-
coupled receptors (GPCRs). In prokaryotic cells, they play a role in the
maintenance of ionic homeostasis [1].
 
Structurally, KCNQ channels belong to the subfamily of K+ channels whose
subunits contain 6 transmembrane (TM) domains: these are the voltage-gated
K+ channels, the KCNQ channels, the EAG-like K+ channels and 3 kinds of 
Ca2+-activated K+ channel (BK, IK and SK) [2]. All K+ channels share a
characteristic sequence feature: a TMxTVGYG motif that resides between
the 2 C-terminal membrane-spanning helices, and forms the K+-selective 
pore domain [1].
 
KCNQ channels differ from other voltage-gated 6 TM helix channels, chiefly 
in that they possess no tetramerisation domain. Consequently, they rely on
interaction with accessory subunits, or form heterotetramers with other
members of the family [3]. Currently, 5 members of the KCNQ family are 
known. These have been found to be widely distributed within the body,
having been shown to be expressed in the heart, brain, pancreas, lung,
placenta and ear. They were initially cloned as a result of a search for 
proteins involved in cardiac arhythmia. Subsequently, mutations in other 
KCNQ family members have been shown to be responsible for some forms of
hereditary deafness [4] and benign familial neonatal epilepsy [5].
 
KCNQ1 was the first member of the KCNQ channel family to be isolated, and
has been found to be the most common cause of the disease `long QT syndrome'
a cardiac arhythmia resulting in a prolonged QT interval. In exceptional
cases, this can lead to sudden death, triggered by extreme stress [6]. 
KCNQ1 is expressed in the stria vascularis of the inner ear, and may be
the cause of hereditary deafness [7].
 
KCNQ1CHANNEL is a 9-element fingerprint that provides a signature for the
KCNQ1 voltage-gated potassium channel subtype. The fingerprint was derived
from an initial alignment of 5 sequences: the motifs were drawn from the
C-terminal portion of the alignment, focusing on those sections that 
characterise the KCNQ1 channel but distinguish it from other members of 
the K+ channel superfamily - motifs 1-9 span the C-terminal intracellular 
region. Two iterations on SPTR39_14f were required to reach convergence, 
at which point a true set comprising 7 sequences was identified.
Summary Information
7 codes involving  9 elements
0 codes involving 8 elements
0 codes involving 7 elements
0 codes involving 6 elements
0 codes involving 5 elements
0 codes involving 4 elements
0 codes involving 3 elements
0 codes involving 2 elements
Composite Feature Index
9777777777
8000000000
7000000000
6000000000
5000000000
4000000000
3000000000
2000000000
123456789
True Positives
CIK9_HUMAN    CIQ1_MOUSE    O73925        O94787        
Q9UMN8 Q9UMN9 Q9Z0N7
Sequence Titles
CIK9_HUMAN  VOLTAGE-GATED POTASSIUM CHANNEL PROTEIN KQT-LIKE 1 (KV1.9) - HOMO SAPIENS (HUMAN). 
CIQ1_MOUSE VOLTAGE-GATED POTASSIUM CHANNEL PROTEIN KQT-LIKE 1 (KV1.9) - MUS MUSCULUS (MOUSE).
O73925 KVLQT POTASSIUM CHANNEL - Squalus acanthias (Spiny dogfish).
O94787 KVLQT1 ISOFORM1 PROTEIN - Homo sapiens (Human).
Q9UMN8 KVLQT1 PROTEIN - Homo sapiens (Human).
Q9UMN9 KVLQT1 PROTEIN - Homo sapiens (Human).
Q9Z0N7 KVLQT-1 POTASSIUM CHANNEL - Rattus norvegicus (Rat).
Scan History
SPTR39_14f 2  50   NSINGLE    
Initial Motifs
Motif 1  width=15
Element Seqn Id St Int Rpt
KKKKFKLDKDNGVTP CIK9_HUMAN 419 419 -
KKKKFKLDKDNGVTP O94787 419 419 -
KKKKFKLDKDNGLSP Q9Z0N7 419 419 -
KKKKFKLDKDNGMSP CIQ1_MOUSE 354 354 -
KRKKLKTDKDNGLNS O73925 410 410 -

Motif 2 width=22
Element Seqn Id St Int Rpt
EKMLTVPHITCDPPEERRLDHF CIK9_HUMAN 435 1 -
EKMLTVPHITCDPPEERRLDHF O94787 435 1 -
EKIFNVPHITCDPPEDRRPDHF Q9Z0N7 435 1 -
EKMFNVPHITYDPPEDRRPDHF CIQ1_MOUSE 370 1 -
EKSLNVPNITYDHVVDKDDRKF O73925 425 0 -

Motif 3 width=15
Element Seqn Id St Int Rpt
SVDGYDSSVRKSPTL CIK9_HUMAN 457 0 -
SVDGYDSSVRKSPTL O94787 457 0 -
SIDGYDSSVRKSPTL Q9Z0N7 457 0 -
SIDGYDSSVRKSPTL CIQ1_MOUSE 392 0 -
NIDGYDSSVKKSLGI O73925 450 3 -

Motif 4 width=15
Element Seqn Id St Int Rpt
LEVSMPHFMRTNSFA CIK9_HUMAN 472 0 -
LEVSMPHFMRTNSFA O94787 472 0 -
LEVSTPHFLRTNSFA Q9Z0N7 472 0 -
LELSTPHFLRTNSFA CIQ1_MOUSE 407 0 -
LDVNSGALSRANSYA O73925 465 0 -

Motif 5 width=17
Element Seqn Id St Int Rpt
LEGETLLTPITHISQLR CIK9_HUMAN 491 4 -
LEGETLLTPITHISQLR O94787 491 4 -
LEGETLLTPITHVSQLR Q9Z0N7 491 4 -
LEGETLLTPITHVSQLR CIQ1_MOUSE 426 4 -
IEGEPVLAPITHVSQLR O73925 485 5 -

Motif 6 width=18
Element Seqn Id St Int Rpt
EHHRATIKVIRRMQYFVA CIK9_HUMAN 508 0 -
EHHRATIKVIRRMQYFVA O94787 508 0 -
DHHRATIKVIRRMQYFVA Q9Z0N7 508 0 -
DHHRATIKVIRRMQYFVA CIQ1_MOUSE 443 0 -
ESHRVTVKVIRRMQYFVA O73925 502 0 -

Motif 7 width=20
Element Seqn Id St Int Rpt
VSEKSKDRGSNTIGARLNRV CIK9_HUMAN 576 50 -
VSEKSKDRGSNTIGARLNRV O94787 576 50 -
ISEKSKDRGSNTIGARLNRV Q9Z0N7 576 50 -
ISEKSKDRGSNTIGARLNRV CIQ1_MOUSE 511 50 -
VSEKSQDRGKNTIGARLNRV O73925 570 50 -

Motif 8 width=21
Element Seqn Id St Int Rpt
EDKVTQLDQRLALITDMLHQL CIK9_HUMAN 596 0 -
EDKVTQLDQRLALITDMLHQL O94787 596 0 -
EDKVTQLDQRLVIITDMLHQL Q9Z0N7 596 0 -
EDKVTQLDQRLVIITDMLHQL CIQ1_MOUSE 531 0 -
EEKFVHMDQKLNTITDMLHHL O73925 590 0 -

Motif 9 width=14
Element Seqn Id St Int Rpt
PELFLPSNTLPTYE CIK9_HUMAN 650 33 -
PELFLPSNTLPTYE O94787 650 33 -
PELFLPSNSLPTYE Q9Z0N7 643 26 -
PELFLPSNSLPTYE CIQ1_MOUSE 578 26 -
THSSLPSYEQLTVR O73925 637 26 -
Final Motifs
Motif 1  width=15
Element Seqn Id St Int Rpt
KKKKFKLDKDNGVTP CIK9_HUMAN 419 419 -
KKKKFKLDKDNGVTP Q9UMN9 419 419 -
KKKKFKLDKDNGVTP Q9UMN8 292 292 -
KKKKFKLDKDNGVTP O94787 419 419 -
KKKKFKLDKDNGLSP Q9Z0N7 419 419 -
KKKKFKLDKDNGMSP CIQ1_MOUSE 354 354 -
KRKKLKTDKDNGLNS O73925 410 410 -

Motif 2 width=22
Element Seqn Id St Int Rpt
EKMLTVPHITCDPPEERRLDHF CIK9_HUMAN 435 1 -
EKMLTVPHITCDPPEERRLDHF Q9UMN9 435 1 -
EKMLTVPHITCDPPEERRLDHF Q9UMN8 308 1 -
EKMLTVPHITCDPPEERRLDHF O94787 435 1 -
EKIFNVPHITCDPPEDRRPDHF Q9Z0N7 435 1 -
EKMFNVPHITYDPPEDRRPDHF CIQ1_MOUSE 370 1 -
EKSLNVPNITYDHVVDKDDRKF O73925 425 0 -

Motif 3 width=15
Element Seqn Id St Int Rpt
SVDGYDSSVRKSPTL CIK9_HUMAN 457 0 -
SVDGYDSSVRKSPTL Q9UMN9 457 0 -
SVDGYDSSVRKSPTL Q9UMN8 330 0 -
SVDGYDSSVRKSPTL O94787 457 0 -
SIDGYDSSVRKSPTL Q9Z0N7 457 0 -
SIDGYDSSVRKSPTL CIQ1_MOUSE 392 0 -
NIDGYDSSVKKSLGI O73925 450 3 -

Motif 4 width=15
Element Seqn Id St Int Rpt
LEVSMPHFMRTNSFA CIK9_HUMAN 472 0 -
LEVSMPHFMRTNSFA Q9UMN9 472 0 -
LEVSMPHFMRTNSFA Q9UMN8 345 0 -
LEVSMPHFMRTNSFA O94787 472 0 -
LEVSTPHFLRTNSFA Q9Z0N7 472 0 -
LELSTPHFLRTNSFA CIQ1_MOUSE 407 0 -
LDVNSGALSRANSYA O73925 465 0 -

Motif 5 width=17
Element Seqn Id St Int Rpt
LEGETLLTPITHISQLR CIK9_HUMAN 491 4 -
LEGETLLTPITHISQLR Q9UMN9 491 4 -
LEGETLLTPITHISQLR Q9UMN8 364 4 -
LEGETLLTPITHISQLR O94787 491 4 -
LEGETLLTPITHVSQLR Q9Z0N7 491 4 -
LEGETLLTPITHVSQLR CIQ1_MOUSE 426 4 -
IEGEPVLAPITHVSQLR O73925 485 5 -

Motif 6 width=18
Element Seqn Id St Int Rpt
EHHRATIKVIRRMQYFVA CIK9_HUMAN 508 0 -
EHHRATIKVIRRMQYFVA Q9UMN9 508 0 -
EHHRATIKVIRRMQYFVA Q9UMN8 381 0 -
EHHRATIKVIRRMQYFVA O94787 508 0 -
DHHRATIKVIRRMQYFVA Q9Z0N7 508 0 -
DHHRATIKVIRRMQYFVA CIQ1_MOUSE 443 0 -
ESHRVTVKVIRRMQYFVA O73925 502 0 -

Motif 7 width=20
Element Seqn Id St Int Rpt
VSEKSKDRGSNTIGARLNRV CIK9_HUMAN 576 50 -
VSEKSKDRGSNTIGARLNRV Q9UMN9 576 50 -
VSEKSKDRGSNTIGARLNRV Q9UMN8 449 50 -
VSEKSKDRGSNTIGARLNRV O94787 576 50 -
ISEKSKDRGSNTIGARLNRV Q9Z0N7 576 50 -
ISEKSKDRGSNTIGARLNRV CIQ1_MOUSE 511 50 -
VSEKSQDRGKNTIGARLNRV O73925 570 50 -

Motif 8 width=21
Element Seqn Id St Int Rpt
EDKVTQLDQRLALITDMLHQL CIK9_HUMAN 596 0 -
EDKVTQLDQRLALITDMLHQL Q9UMN9 596 0 -
EDKVTQLDQRLALITDMLHQL Q9UMN8 469 0 -
EDKVTQLDQRLALITDMLHQL O94787 596 0 -
EDKVTQLDQRLVIITDMLHQL Q9Z0N7 596 0 -
EDKVTQLDQRLVIITDMLHQL CIQ1_MOUSE 531 0 -
EEKFVHMDQKLNTITDMLHHL O73925 590 0 -

Motif 9 width=14
Element Seqn Id St Int Rpt
PELFLPSNTLPTYE CIK9_HUMAN 650 33 -
PELFLPSNTLPTYE Q9UMN9 650 33 -
PELFLPSNTLPTYE Q9UMN8 523 33 -
PELFLPSNTLPTYE O94787 650 33 -
PELFLPSNSLPTYE Q9Z0N7 643 26 -
PELFLPSNSLPTYE CIQ1_MOUSE 578 26 -
THSSLPSYEQLTVR O73925 637 26 -