Family potassium channels. Medical search. Frequent questions

Coexpression of SUR2 and the inward rectifier K+ channel subunit Kir6.2 in COS1 cells reconstitutes the properties of K(ATP) channels described in cardiac and skeletal muscle. (nih.gov)
One beta subunit, produced from the KCNE1 gene, binds to the channel and regulates its activity. (medlineplus.gov)
Ehmke H. Physiological functions of the regulatory potassium channel subunit KCNE1. (medlineplus.gov)
[ 17 ] Another family has been noted to have abnormalities in the acetylcholine alpha-4 receptor subunit, which also has been associated with autosomal dominant, nocturnal frontal lobe epilepsy. (medscape.com)
10. Scott VE, Rettig J, Parcej DN, Keen JN, Findlay JB, Pongs O, and Dolly JO (1994) Primary structure of a β subunit of α-dendrotoxin-sensitive K + channels from bovine brain. (aspetjournals.org)
11. Rettig J, Heinemann SH, Wunder F, Lorra C, Parcej DN, Dolly JO, and Pongs O (1994) Inactivation properties of voltage-gated K + channels altered by presence of β-subunit. (aspetjournals.org)
13. Rhodes KJ, Keilbaugh SA, Barrezueta NX, Lopez KL, and Trimmer JS (1995) Association and colocalization of K + channel α-and β-subunit polypeptides in rat brain. (aspetjournals.org)
Structurally, the pore-forming subunit of K ir channels is the α-subunit. (tocris.com)
Homo sapiens potassium voltage-gated channel subfamily A regulatory beta subunit 2 (KCNAB2), transcript variant 2, mRNA. (ucsc.edu)
Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. (ucsc.edu)
Belongs to the shaker potassium channel beta subunit family. (ucsc.edu)

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. (wikipedia.org)
The KCNE1 gene provides instructions for making a protein that regulates the activity of potassium channels. (medlineplus.gov)
The specific function of a potassium channel depends on its protein components and its location in the body. (medlineplus.gov)
The KCNE1 protein regulates a channel made up of four parts, called alpha subunits, which are produced from the KCNQ1 gene. (medlineplus.gov)
The KCNE1 protein is also produced in the kidneys, testes, and uterus, where it probably regulates the activity of other channels. (medlineplus.gov)
An altered KCNE1 protein cannot regulate the flow of potassium ions through channels in the inner ear and cardiac muscle. (medlineplus.gov)
Smooth muscle cells express Kv7.4 and Kv7.5 voltage-dependent potassium channels, which have each been implicated as regulators of smooth muscle contractility, though they display different sensitivities to signaling via cAMP/protein kinase A (PKA) and protein kinase C (PKC). (aspetjournals.org)
The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (K ir 2.x), the G-protein-activated inward-rectifier channels (K ir 3.x) and the ATP-sensitive channels (K ir 6.x), which combine with sulphonylurea receptors. (tocris.com)
The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. (thermofisher.com)
The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. (thermofisher.com)
K channels) the protein forms a tetramer in the membrane. (embl.de)
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. (embl.de)

Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). (nih.gov)
Kv7 channels are encoded by KCNQ genes (1 through 5). (aspetjournals.org)
Several additional genes have been associated with benign familial neonatal convulsions in single families, including KCNQ5 M-type potassium channel in one family. (medscape.com)
Expression of the mutated genes in xenopus oocytes has provided some insight into how the potassium channel mutation leads to lowering of the seizure threshold. (medscape.com)
Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. (nature.com)
2. Kamb A, Weir M, Rudy B, Varmus H, and Kenyon C (1989) Identification of genes from pattern formation, tyrosine kinase, and potassium channel families by DNA amplification. (aspetjournals.org)
5. Chandy KG, Williams CB, Spencer RH, Aguilar BA, Ghanshani S, Tempel BL, and Gutman GA (1990) A family of three mouse potassium channel genes with intronless coding regions. (aspetjournals.org)
Earlier studies using a candidate gene approach, family linkage studies and gene expression profiling uncovered a number of T2DM genes, but the genetic basis of common T2DM remained unknown. (scialert.net)
This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. (thermofisher.com)

The N-terminal, cytoplasmic tetramerization domain (T1) of voltage-gated potassium channels encodes molecular determinants for subfamily-specific assembly of alpha-subunits into functional tetrameric channels. (wikipedia.org)
This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. (nih.gov)
This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. (nih.gov)
We show that the Caenorhabditis elegans egl-2 gene encodes an eag K + channel and that a gain-of-function mutation in egl-2 blocks excitation in neurons and muscles by causing the channel to open at inappropriately negative voltages. (jneurosci.org)
The human ether-a-go-go related gene (hERG, KCNH2) encodes for a voltage dependent K + ion channel (Kv11.1). (springer.com)
KCNK3, the researchers noted, encodes part of a potassium channel that is thought to be involved in resting membrane potential and pulmonary vascular tone. (genomeweb.com)
Of those, the G203D missense variant in KCNK3 stood out to the researchers as a strong disease-causing variant as the gene encodes a potassium channel. (genomeweb.com)
This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. (ucsc.edu)

This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. (nih.gov)
8. Paulmichl M, Nasmith P, Hellmiss R, Reed K, Boyle WA, Nerbonne JM, Peralta EG, and Clapham DE (1991) Cloning and expression of a rat cardiac delayed rectifier potassium channel. (aspetjournals.org)

12. Kim E, Niethammer M, Rothschild A, Jan YN, and Sheng M (1995) Clustering of Shaker-type K + channels by interaction with a family of membrane-associated guanylate kinases. (aspetjournals.org)
Potassium Channel Kv1.1 or Kcna1 is a member of the Shaker potassium channel family. (antibodiesinc.com)

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. (wikipedia.org)
Some of these loci have been identified further as specific mutations in the KCNQ2 and KCNQ3 M-type potassium channel proteins. (medscape.com)
For example, the T8K mutation affects the N-terminal, which is the part of the channel involved in membrane transport and interacting with other proteins. (genomeweb.com)
Starting from native material or recombinant systems, we succeed with all types of membrane proteins: GPCRs, Ion Channels, Transporters, Receptors and Viral Proteins. (calixar.com)
CALIXAR's approach allows to preserve the original structure and function of membrane proteins (GPCRs, Ion Channels, Transporters, Receptors, Anchors and Viral Proteins) providing solutions for pharmaceutical industries, biotechnology companies and academic teams to develop conformational antibodies, formulate new vaccines, carry out Structure Based Drug Discovery and/or HTS assays. (calixar.com)
This domain is found in sodium, potassium, and calcium ion channels proteins. (embl.de)
In some Na channel proteins the domain is repeated four times, whereas in others (e.g. (embl.de)

It defines molecular determinants for subfamily-specific assembly of alpha-subunits into functional tetrameric channels. (wikipedia.org)
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). (wikipedia.org)
In families that contain one P-domain, four subunits assemble to form a selective pathway for K+ across the membrane. (wikipedia.org)
The functional diversity of these families can arise through homo- or hetero-associations of alpha subunits or association with auxiliary cytoplasmic beta subunits. (wikipedia.org)
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. (wikipedia.org)
In addition, there are K+ channel alpha-subunits that possess two P-domains. (wikipedia.org)
These subunits do not themselves possess any functional activity, but appear to form heteromeric channels with Kv2 subunits, and thus modulate Shab channel activity. (wikipedia.org)
We expressed chimeric channels composed of different components of the Kv7.4 and Kv7.5 α -subunits in vascular smooth muscle cells to determine which components are essential for enhancement or inhibition of channel activity. (aspetjournals.org)
The present studies identify distinct functional domains that confer differential sensitivities of Kv7.4 and Kv7.5 to stimulatory and inhibitory signaling and reveal structural features of the channel subunits that determine their biophysical properties. (aspetjournals.org)
functional channels form as homo- or hetero-tetramers of α -subunits ( Delmas and Brown, 2005 ). (aspetjournals.org)

Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. (calixar.com)

[ 15 ] The specific location of the mutation appears to vary from family to family and at least 1 family has been noted to include an increased incidence of rolandic epilepsy. (medscape.com)
Removal of this additional domain (mutant THIK-2Δ6-24) or mutation of the RRR motif to AAA (THIK-2AAA mutant) gave rise to a measurable potassium current. (uni-marburg.de)
Moreover, the KIF3C p.R410H mutation could activate the PI3K and KCNQ1 potassium channels. (nature.com)
Here we report that the behavioral defects in the C. elegans egl-2 mutant are caused by a gain-of-function ( gf ) mutation in an eag-like K + channel. (jneurosci.org)
Genetic testing of family members is done when the index case has a known mutation. (msdmanuals.com)
Family members also require ongoing clinical monitoring for development of arrhythmias unless the genetic mutation is absent. (msdmanuals.com)

KCNE4 and KCNE5: K(+) channel regulation and cardiac arrhythmogenesis. (nih.gov)
The SUR2/Kir6.2 channel is less sensitive than the SUR/Kir6.2 channel (the pancreatic beta cell KATP channel) to both ATP and the sulfonylurea glibenclamide and is activated by the cardiac K(ATP) channel openers, cromakalim and pinacidil, but not by diazoxide. (nih.gov)
These channels are active in the inner ear and in heart (cardiac) muscle, where they transport potassium ions out of cells. (medlineplus.gov)
In the heart, the channels are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. (medlineplus.gov)
These channels are influential in human health, and their dysfunction is linked to diseases, including diabetes, epilepsy, and cardiac arrhythmias. (neurosciencenews.com)
The syndrome is caused by changes in the structure and function of certain cardiac ion channels and reduced expression of Connexin 43 (Cx43) in the Right Ventricle (RV), predominantly in the Right Ventricular Outflow Tract (VSVD), causing electromechanical abnormalities. (bvsalud.org)
Short QT Interval Syndromes The short QT interval syndromes (SQTS) are extremely rare congenital or very rarely acquired disorders of cardiac ion channel function or regulation that shorten ventricular myocyte action potential. (msdmanuals.com)

Note that whilst the 'Potassium channels' family is listed under 'Voltage-gated ion channels' two of the subfamilies, the Inwardly rectifying potassium channels and Two P domain potassium channels, are NOT voltage-gated. (guidetopharmacology.org)

R92 is at the end of the unstructured region.Compared to THIK-1, the 'silent' channel THIK-2 has an additional domain at its N-terminus (residues 6-24) which contains a putative retention signal (RRR). (uni-marburg.de)
1. McKinnon D (1989) Isolation of a cDNA clone coding for a putative second potassium channel indicates the existence of a gene family. (aspetjournals.org)

TWIK-related acid-sensitive potassium channel 1 (TASK-1 encoded by KCNK3) belongs to the family of two-pore domain potassium channels. (ersjournals.com)
Background: THIK-1, THIK-2 and TREK-1 and all belong to family of two-pore-domain potassium channel (K2P channels). (uni-marburg.de)
Potassium two pore domain channel subfamily K member 16 is encoded by the gene KCNK16. (antibodiesinc.com)
KCNK16 is a member of the two pore domain potassium channel (TC 1.A.1.8) family. (antibodiesinc.com)

and three types of calcium (Ca)-activated K+ channels (BK, IK and SK). (wikipedia.org)
Catheterization is also performed to determine pulmonary vasoreactivity, which can be prognostic and figures in the initiation and titration of high-dose calcium channel blocker (CCB) therapy. (medscape.com)
The ion channels affected include those responsible for the inward sodium or calcium currents and those responsible for the outward potassium current. (msdmanuals.com)
Long-term treatment improves the quality of life and survival rate in patients who are proven responders to calcium channel blockers (CCBs). (medscape.com)

Kv7 family channels mediate a voltage-dependent outward flux of potassium ions, which contributes to the establishment of negative membrane potentials in many cell types. (aspetjournals.org)
Previous work has shown that the Shal potassium channel subfamily underlies the predominant fast transient outward current in Drosophila neurons (Tsunoda, S., and Salkoff, L. (1995) J. Neurosci. (wikigenes.org)
Anti-Ro/SSA antibodies may produce a long QT interval syndrome by inhibiting the human ether-a-go-go-related gene ( hERG ) related outward potassium channel, and transplacental exposure to these antibodies in utero is responsible for congenital AV block. (msdmanuals.com)

The present study shows that the ATP sensitivity and pharmacological properties of K(ATP) channels are determined by a family of structurally related but functionally distinct sulfonylurea receptors. (nih.gov)

Mutations in K + channel sequences can lead to a variety of clinical disorders exemplifying their physiological importance [ 3 ]. (ersjournals.com)
Mutations that activate K + channels can lower cellular excitability, whereas those that inhibit K + channels may increase excitability. (jneurosci.org)
To search for the genetic root of PAH in an affected family lacking known disease mutations, Chung and her colleagues performed whole-exome sequencing of three family members with the disease to a 78.7x average depth of coverage. (genomeweb.com)
To try to rescue the effects of these mutations, Chung and her colleagues turned to a phospholipase A2 inhibitor that had previously been shown to activate non-mutant KCNK3 channels. (genomeweb.com)

Quercetin, a flavonoid found in pickled capers, modulates potassium ion channels in the KCNQ gene family. (neurosciencenews.com)

These channels, which transport positively charged potassium atoms (ions) into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals. (medlineplus.gov)

Addgene: Eight potassium channel families revealed by the C. elegans genome project. (addgene.org)

TASK-1 channels are sensitive to a wide array of physiological and pharmacological mediators that affect their activity such as unsaturated fatty acids, extracellular pH, hypoxia, anaesthetics and intracellular signalling pathways. (ersjournals.com)
Behavioral and pharmacological studies of these mutants may provide insight into the genetic and mechanistic basis of K + channel dysfunction in vivo . (jneurosci.org)

Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. (nih.gov)

4. Yokoyama S, Imoto K, Kawamura T, Higashida H, Iwabe N, Miyata T, and Numa S (1989) Potassium channels from NG108-15 neuroblastoma-glioma hybrid cells: primary structure and functional expression from cDNAs. (aspetjournals.org)
7. Roberds SL and Tamkun MM (1991) Cloning and tissue-specific expression of five voltage-gated potassium channel cDNAs expressed in rat heart. (aspetjournals.org)

Potassium (K + ) channels constitute the largest group of ion channels in the human genome. (ersjournals.com)
A Torkamani, N J. Schork, (2007) Distribution analysis of nonsynonymous polymorphisms within the human kinase gene family. (lu.se)

Conclusions: IMBX can block TREK-1 channels though the PKA pathway, it also can bind to the extracellular side of THIK-1 or THIK-2, leading to a direct block of the channels. (uni-marburg.de)

Kuo, 1998 ), but the molecular identities of these channels are unknown. (jneurosci.org)
3. Stuhmer W, Ruppersberg JP, Schroter KH, Sakmann B, Stocker M, Giese KP, Perschke A, Baumann A, and Pongs O (1989) Molecular basis of functional diversity of voltage-gated potassium channels in mammalian brain. (aspetjournals.org)
A series of 172 molecular structures that block the hERG K + channel were used to develop a classification model where, initially, eight types of PaDEL fingerprints were used for k -nearest neighbor model development. (springer.com)

Loci on chromosome arm 20q have been identified for most families, and at least one family was identified to have a locus on chromosome arm 8q. (medscape.com)

Methods: Whole cell recording patch clamp measurements in mammalian cells was used to analyze K2P channels mentioned above. (uni-marburg.de)

Recent studies show that modulation of TASK-1 channels, either directly or indirectly by targeting their regulatory mechanisms, has the potential to control pulmonary arterial tone in humans. (ersjournals.com)

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. (wikipedia.org)

Forskolin treatment reduced the sensitivity of Kv7.5 channels to Ciona intestinalis voltage-sensing phosphatase (Ci-VSP)-induced PIP 2 depletion, whereas activation of PKC with phorbol-12-myristate-13-acetate potentiated the Ci-VSP-induced decline in Kv7.5 current amplitude. (aspetjournals.org)
The prominence of Kv7 channels as regulators of electrical excitability may be ascribed to their unique properties, such as a very negative threshold of activation (negative to −50 mV), absence of time-dependent inactivation, and high sensitivity to signal transduction pathways that influence their probability of opening, either positively or negatively ( Delmas and Brown, 2005 ). (aspetjournals.org)
To identify the binding site of IBMX on THIK-1 we mutated all amino acids of the helical cap one by one and screened for changes in IBMX sensitivity of the channels. (uni-marburg.de)

The Kv family can be divided into several subfamilies on the basis of sequence similarity and function. (wikipedia.org)
Heteromeric channels can also be formed within subfamilies, e.g. (tocris.com)

A recent report on the use of PaDEL fingerprints in conjunction with a k -NN strategy aimed at the prediction of chronic toxicity [ 25 ] prompted us to apply this approach to hERG-channel blockers, a far more focused system. (springer.com)
It was envisaged that publicly available data on a series of hERG-channel blockers could function as a starting point for model construction, and a series of 1953 PubChem compounds could act as basis for validation. (springer.com)

Through electrophysiological studies of mutant KCNK3 potassium channels, the researchers found that all six variants led to changes to the channel and a loss of its function. (genomeweb.com)
Either gain of function or loss of function in these ion channels, particularly when the abnormal channels are unevenly distributed, fosters abnormal electrophysiological environments. (msdmanuals.com)

Similar inhibition is observed with the mouse homolog MEAG, suggesting that inhibition of EAG-like channels may mediate some clinical side effects of this class of antidepressants. (jneurosci.org)
Inhibition of slow delayed inward rectifying potassium current (Iks) in Chinese Hamster Ovary (CHO) cells transfected with KCNQ1 / Kv1.7 / KvLQT1 and. (bindingdb.org)
Inhibition of slow delayed inward rectifying potassium current (Iks) in Chinese Hamster Ovary (CHO) cells expressing hKvLQT1/hminK measured using Ion. (bindingdb.org)
Inhibition of rapid delayed inward rectifying potassium current (IKr) in Chinese hamster ovary (CHO) cells stable expressing hERG measured using IonW. (bindingdb.org)

K+ channel tetramerisation domain is the N-terminal, cytoplasmic tetramerisation domain (T1) of voltage-gated K+ channels. (wikipedia.org)
The 2TM domain family comprises inward-rectifying K+ channels. (wikipedia.org)
The fourth TM domain has positively charged residues at every third residue and acts as a voltage sensor, which triggers the conformational change that opens the channel pore in response to a displacement in membrane potential. (wikipedia.org)

KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation. (medlineplus.gov)
SIGNIFICANCE STATEMENT Kv7.4 and Kv7.5 channels are known signal transduction intermediates and drug targets for regulation of smooth muscle tone. (aspetjournals.org)

This review summarises our current state of knowledge of the functional role of TASK-1 channels in the pulmonary circulation in health and disease, with special emphasis on current advancements in the field. (ersjournals.com)
The potassium current was reduced in the channel expressed by the mutated gene to 5% of that in the channel expressed by the normal gene. (medscape.com)
In cell cultures, they found that the application of phospholipase A2 inhibitor ONO-RS-082 could increase the current density of two of the three mutant channels tested to non-mutant levels, suggesting a possible therapeutic for some PAH patients. (genomeweb.com)

Clinically, the more important considerations are taking an appropriate approach to the patient and family, making the correct diagnosis, and pursuing treatment options concordant with the situation. (medscape.com)

Interestingly, one unaffected family member also had the variant, which the researchers said could suggest incomplete penetrance or late onset of the disease. (genomeweb.com)

Channelopathies are a group of genetic, autoimmune, or inflammatory conditions that alter cardiomyocyte ion channel function in a manner that predisposes to bradyarrhythmias or tachyarrhythmias in the absence of a structural heart disorder. (msdmanuals.com)

Through whole-exome sequencing of a family with multiple members affected by PAH, the researchers homed in on a variant in KCNK3 that appeared to be disease-causing. (genomeweb.com)
By expanding their search to other families as well as to idiopathic PAH cases, the researchers uncovered multiple KCNK3 variants linked to the disease. (genomeweb.com)

Mutant EGL-2( gf ) channels exhibited a negative shift in voltage dependence of activation, and both wild-type (WT) and mutant currents were blocked by imipramine. (jneurosci.org)

Anatomy25

Organisms16

Diseases9

Chemicals and Drugs152

Analytical, Diagnostic and Therapeutic Techniques and Equipment12

Phenomena and Processes36

Disciplines and Occupations3

Technology, Industry, Agriculture1

Information Science3

Subunit11

Protein12

Genes9

Encodes8

Rectifier2

Shaker2

Proteins7

Subunits10

Conductance1

Mutation6

Cardiac7

Inwardly Rectifying1

Putative2

Pore domain4

Calcium4

Outward3

Receptors1

Mutations4

Modulates1

Ions1

Elegans1

Pharmacological2

Selectivity1

CDNAs2

Human2

Extracellular1

Molecular3

Loci1

Mammalian1

Regulatory1

Functionally distinct1

Sensitivity3

Subfamilies2

Blockers2

Electrophysiological2

Inhibition4

Domain3

Regulation2

Current3

Approach1

Member1

Genetic1

KCNK32

Voltage dependence1