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0KCNQ1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameKCNQ1
DescriptionPotassium voltage-gated channel subfamily kqt member 1 (voltage-gated potassium channel subunit kv7.1) (iks producing slow voltage-gated potassium channel alpha subunit kvlqt1) (kqt-like 1).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0008076 voltage-gated potassium channel complex (TAS)
0005251 delayed rectifier potassium channel activity (TAS)
0005515 protein binding (IPI)
0006936 muscle contraction (TAS)
0007605 perception of sound (TAS)
0006813 potassium ion transport (TAS)
0008016 regulation of heart contraction rate (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
KCNQ channels differ from other voltage-gated 6 TM helix channels.hiefly in that they possess no tetramerisation domain. Consequently.hey rely on interaction with accessory subunits.r form heterotetramers with other members of the family . Currently. members of the KCNQ family are known. These have been found to be widely distributed within the body.aving been shown to be expressed in the heart.rain.ancreas.ung.lacenta and ear. They were initially cloned as a result of a search for proteins involved in cardiac arhythmia. Subsequently.utations in other KCNQ family members have been shown to be responsible for some forms of hereditary deafness and benign familial neonatal epilepsy .
  IPR013821:KCNQ voltage-gated potassium channel, C-terminal
This group of proteins is found in sodium.otassium.nd calcium ion channels proteins. The proteins have 6 transmembrane helices in which the last two helices flank a loop which determines ion selectivity. In some Na channels proteins the domain is repeated four times.hereas in others (e.g. K channels) the protein forms a tetramer in the membrane. A bacterial structure of the protein is known for the last two helices but is not included in the Pfam family due to it lacking the first four helices.
  IPR005821:Ion transport
Potassium channels are the most diverse group of the ion channel family. They are important in shaping the action potential.nd in neuronal excitability and plasticity . The potassium channel family iscomposed of several functionally distinct isoforms.hich can be broadlyseparated into 2 groups : the practically non-inactivating delayed group and the rapidly inactivating transient group.These are all highly similar proteins.ith only small amino acidchanges causing the diversity of the voltage-dependent gating mechanism.hannel 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.ogether with intracellular kinases; and others are regulated by GTP-binding proteins orother second messengers . In eukaryotic cells.+ channelsare involved in neural signalling and generation of the cardiac rhythm.ct 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.hey play a role in themaintenance of ionic homeostasis . All K+ channels discovered so far possess a core of alpha subunits.ach comprising either one or two copies of a highly conserved pore loop domain (P-domain). The P-domain contains the sequence (T/SxxTxGxG).hich hasbeen termed the K+ selectivity sequence.In families that contain one P-domain.our subunits assemble to form a selective pathway for K+ across the membrane.However.t 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.K and SK). The 2TM domain family comprises inward-rectifying K+ channels. In addition.here are K+ channel alpha-subunits that possess two P-domains. These are usually highly regulated K+ selective leak channels.
  IPR003091:Voltage-dependent potassium channel
Potassium channels are the most diverse group of the ion channel family. They are important in shaping the action potential.nd in neuronal excitability and plasticity . The potassium channel family iscomposed of several functionally distinct isoforms.hich can be broadlyseparated into 2 groups : the practically non-inactivating delayed group and the rapidly inactivating transient group.These are all highly similar proteins.ith only small amino acidchanges causing the diversity of the voltage-dependent gating mechanism.hannel 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.ogether with intracellular kinases; and others are regulated by GTP-binding proteins orother second messengers . In eukaryotic cells.+ channelsare involved in neural signalling and generation of the cardiac rhythm.ct 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.hey play a role in themaintenance of ionic homeostasis . All K+ channels discovered so far possess a core of alpha subunits.ach comprising either one or two copies of a highly conserved pore loop domain (P-domain). The P-domain contains the sequence (T/SxxTxGxG).hich hasbeen termed the K+ selectivity sequence.In families that contain one P-domain.our subunits assemble to form a selective pathway for K+ across the membrane.However.t 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.K and SK). The 2TM domain family comprises inward-rectifying K+ channels. In addition.here are K+ channel alpha-subunits that possess two P-domains. These are usually highly regulated K+ selective leak channels.KCNQ channels differ from other voltage-gated 6 TM helix channels.hiefly in that they possess no tetramerisation domain. Consequently.hey rely on interaction with accessory subunits.r form heterotetramers with other members of the family . Currently. members of the KCNQ family are known. These have been found to be widely distributed within the body.aving been shown to be expressed in the heart.rain.ancreas.ung.lacenta and ear. They were initially cloned as a result of a search for proteins involved in cardiac arhythmia. Subsequently.utations in other KCNQ family members have been shown to be responsible for some forms of hereditary deafness and benign familial neonatal epilepsy .
  IPR003937:KCNQ voltage-gated potassium channel
Potassium channels are the most diverse group of the ion channel family. They are important in shaping the action potential.nd in neuronal excitability and plasticity . The potassium channel family iscomposed of several functionally distinct isoforms.hich can be broadlyseparated into 2 groups : the practically non-inactivating delayed group and the rapidly inactivating transient group.These are all highly similar proteins.ith only small amino acidchanges causing the diversity of the voltage-dependent gating mechanism.hannel 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.ogether with intracellular kinases; and others are regulated by GTP-binding proteins orother second messengers . In eukaryotic cells.+ channelsare involved in neural signalling and generation of the cardiac rhythm.ct 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.hey play a role in themaintenance of ionic homeostasis . All K+ channels discovered so far possess a core of alpha subunits.ach comprising either one or two copies of a highly conserved pore loop domain (P-domain). The P-domain contains the sequence (T/SxxTxGxG).hich hasbeen termed the K+ selectivity sequence.In families that contain one P-domain.our subunits assemble to form a selective pathway for K+ across the membrane.However.t 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.K and SK). The 2TM domain family comprises inward-rectifying K+ channels. In addition.here are K+ channel alpha-subunits that possess two P-domains. These are usually highly regulated K+ selective leak channels.KCNQ channels differ from other voltage-gated 6 TM helix channels.hiefly in that they possess no tetramerisation domain. Consequently.hey rely on interaction with accessory subunits.r form heterotetramers with other members of the family . Currently. members of the KCNQ family are known. These have been found to be widely distributed within the body.aving been shown to be expressed in the heart.rain.ancreas.ung.lacenta and ear. They were initially cloned as a result of a search for proteins involved in cardiac arhythmia. Subsequently.utations in other KCNQ family members have been shown to be responsible for some forms of hereditary deafness and benign familial neonatal epilepsy .KCNQ1 was the first member of the KCNQ channel family to be isolated.nd 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.his can lead to sudden death.riggered by extreme stress . KCNQ1 is expressed in the stria vascularis of the inner ear.nd may be the cause of hereditary deafness .
  IPR005827:KCNQ1 voltage-gated potassium channel
IPR013821:KCNQ_channel 
Evalue:-161.795883178711 
Location:419-663IPR005821:Ion_trans 
Evalue:-30.7958793640137 
Location:158-347
SequencesProtein: KCNQ1_HUMAN (676 aa)
mRNA: NM_000218
Local Annotation
Synapse Ontology
A process that increases long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers.
sdb:0039 positive regulation of long-term neuronal synaptic plasticity  (Evidence:keywords)
A process that increases short-term neuronal synaptic plasticity, the ability of neuronal synapses to change in the short-term as circumstances require. Short-term neuronal synaptic plasticity generally involves increasing or decreasing synaptic sensitivity.
sdb:0043 positive regulation of short-term neuronal synaptic plasticity  (Evidence:keywords)
KO assignmentK04926
  Level 3 annotation:
    potassium voltage-gated channel, KQT-like subfamily, member 1
  Level 2 annotation:
    Ion channels
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 165 residues, 2422796-2423290Exon2: 32 residues, 2505733-2505824Exon3: 44 residues, 2548433-2548560Exon4: 28 residues, 2549130-2549209Exon5: 34 residues, 2549818-2549915Exon6: 49 residues, 2550651-2550792Exon7: 39 residues, 2561240-2561351Exon8: 34 residues, 2563017-2563113Exon9: 43 residues, 2565375-2565498Exon10: 49 residues, 2566518-2566660Exon11: 42 residues, 2639766-2639887Exon12: 27 residues, 2746649-2746725Exon13: 33 residues, 2753765-2753860Exon14: 17 residues, 2754791-2754838Exon15: 22 residues, 2755781-2755843Exon16: 449 residues, 2825572-2826915Exon17: 2 residues, -Jump to KCNQ1_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 3930 2141735-2149605 ~-8K 6153(TH)(-)Loci: 2645 2355122-2375225 ~-20K 6164(CD81)(+)Loci: 2646 2422796-2826915 ~-404K 6167(KCNQ1)(+)Loci: 2644 1812281-1815326 ~-3K 6136(SYT8)(+)Link out to UCSC