Protein detail
KCNQ1
Potassium voltage-gated channel subfamily KQT member 1 (IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1) (KQT-like 1) (Voltage-gated potassium channel subunit Kv7.1)
Protein symbol KCNQ1 | UniProt ID | EVMP score 0.38 |
Frequency 1 | Transmembrane count 6 | Protein classification Disease related genesFDA approved drug targetsHuman disease related genesPlasma proteinsPredicted intracellular proteinsPredicted membrane proteinsTransportersVoltage-gated ion channels |
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
Potassium voltage-gated channel subfamily KQT member 1 (IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1) (KQT-like 1) (Voltage-gated potassium channel subunit Kv7.1)
Protein Class
Disease related genesFDA approved drug targetsHuman disease related genesPlasma proteinsPredicted intracellular proteinsPredicted membrane proteinsTransportersVoltage-gated ion channels
Protein Function
- Voltage-gated ion channels:Voltage-Gated Potassium Channels
- Predicted intracellular proteins
- Human disease related genes:Endocrine and metabolic diseases:Diabetes
- Transporters:Transporter channels and pores
- Human disease related genes:Congenital malformations:Other congenital malformations
- Disease related genes
- Human disease related genes:Cardiovascular diseases:Cardiac diseases
- FDA approved drug targets:Small molecule drugs
Transmembrane
121..142; Helical; Name=Segment S1; 154..176; Helical; Name=Segment S2; 193..218; Helical; Name=Segment S3; 227..242; Helical; Voltage-sensor; Name=Segment S4; 261..283; Helical; Name=Segment S5; 323..348; Helical; Name=Segment S6
Transmembrane Count
6
Ensembl
Entrez Gene Symbol
Gene Synonym
JLNS1KCNA8KCNA9Kv7.1KVLQT1LQTLQT1
Gene Description
Potassium voltage-gated channel subfamily Q member 1
Chromosome
11
Position
2444684-2849105
Frequency
1
EVMP Score
0.38
Fluorescence & Localization
Tissue SpecificbrainCell SpecificBrain excitatory neurons
Function & Pathway
Protein Function
- Voltage-gated ion channels:Voltage-Gated Potassium Channels
- Predicted intracellular proteins
- Human disease related genes:Endocrine and metabolic diseases:Diabetes
- Transporters:Transporter channels and pores
- Human disease related genes:Congenital malformations:Other congenital malformations
- Disease related genes
- Human disease related genes:Cardiovascular diseases:Cardiac diseases
- FDA approved drug targets:Small molecule drugs
Cellular Component
- GO:0005737 cytoplasm
- GO:0005764 lysosome
- GO:0005769 early endosome
- GO:0005770 late endosome
- GO:0005783 endoplasmic reticulum
- GO:0005886 plasma membrane
- GO:0008076 voltage-gated potassium channel complex
- GO:0016020 membrane
- GO:0016323 basolateral plasma membrane
- GO:0016324 apical plasma membrane
- GO:0030133 transport vesicle
- GO:0030659 cytoplasmic vesicle membrane
- GO:0034702 monoatomic ion channel complex
- GO:0043005 neuron projection
- GO:0043025 neuronal cell body
- GO:0045121 membrane raft
- GO:0097546 ciliary base
- GO:0098576 lumenal side of membrane
- GO:1990794 basolateral part of cell
Molecular Function
- GO:0005249 voltage-gated potassium channel activity
- GO:0005251 delayed rectifier potassium channel activity
- GO:0005515 protein binding
- GO:0005516 calmodulin binding
- GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
- GO:0008157 protein phosphatase 1 binding
- GO:0015271 outward rectifier potassium channel activity
- GO:0034236 protein kinase A catalytic subunit binding
- GO:0034237 protein kinase A regulatory subunit binding
- GO:0044325 transmembrane transporter binding
- GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
- GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization
- GO:0097110 scaffold protein binding
- GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
Biological Process
KEGG
Reactome
Canonical Pathways
- M5880 Naba ecm affiliated
- M5885 Naba matrisome associated
- M5889 Naba matrisome
Mediation Categories
Clinical-translation mediationFusion and delivery mediationImmune mediationReceptor-signaling mediation
Relations & Evidence
Enzyme-Mediated Modification
4 records.
| Substrate Gene Symbol | Enzyme Gene Symbol | Enzyme UniProt ID | Residue Type | Residue Offset | Modification | Database | References |
|---|---|---|---|---|---|---|---|
| KCNQ1 | PRKACA | P17612 | S | 27 | phosphorylation | PhosphoSite_MIMPMIMPProtMapperPhosphoSitePhosphoSite_ProtMapper | |
| KCNQ1 | CAMK2D | Q13557 | T | 482 | phosphorylation | PhosphoSite | |
| KCNQ1 | CAMK2D | Q13557 | S | 484 | phosphorylation | PhosphoSite | |
| KCNQ1 | KCNE2 | Q9Y6J6 | S | 27 | phosphorylation | REACH_ProtMapperProtMapper | ProtMapper:19077539 |
Ligand-Receptor Signaling
27 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| intracellular | intracellular | LOCATE | No | No | No | No | No |
| intracellular | intracellular | ComPPI | No | No | No | No | No |
| intracellular | intracellular | GO_Intercell | No | No | No | No | No |
| intracellular | intracellular | UniProt_location | No | No | No | No | No |
| intracellular | intracellular | OmniPath | No | No | No | No | No |
| ion_channel | ion_channel | DGIdb | No | Yes | No | No | No |
| voltage_gated_potassium | ion_channel | HGNC | No | Yes | No | No | No |
| ion_channel | ion_channel | HGNC | No | Yes | No | No | No |
| ion_channel | ion_channel | Almen2009 | No | Yes | No | No | No |
| potassium | ion_channel | Almen2009 | No | Yes | No | No | No |
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Regulatory Interaction Network
3 records.
| Source Protein Symbol | Source UniProt ID | Target Protein Symbol | Target UniProt ID | Is Directed | Is Stimulation | Is Inhibition | Database | References |
|---|---|---|---|---|---|---|---|---|
| KCNE3 | Q9Y6H6 | KCNQ1 | P51787 | Yes | Yes | No | HINTSIGNOR | HINT:31883792SIGNOR:21911611 |
| KCC2D | Q13557 | KCNQ1 | P51787 | Yes | No | Yes | PhosphoSite_norefSIGNORProtMapperPhosphoSitePhosphoSite_ProtMapper | PhosphoSite:29410121SIGNOR:29410121 |
| KAPCA | P17612 | KCNQ1 | P51787 | Yes | No | No | PhosphoSite_MIMPMIMPiPTMnetProtMapperPhosphoSitePhosphoSite_ProtMapper | PhosphoSite:24184248PhosphoSite:25037568PhosphoSite:12835205PhosphoSite:22095730 |
Protein Complex Composition
8 records.
| Component Name | Component Gene Symbols | Component UniProt ID | Stoichiometry | Database | Database IDs | References |
|---|---|---|---|---|---|---|
| KCNQ1 homotetramer | KCNQ1 | P51787 | 2 | CORUMPDB | PDB:3hfeCORUM:6699PDB:3hfcPDB:3bj4 | 20962273 |
| KCNQ1-KCNE1 I(Ks) channel complex | KCNE1KCNQ1 | P15382P51787 | 1:1 | ComplexPortal | intact:EBI-9871710 | 2097496431834838126232971475529225037568 |
| KCNQ1-KCNE2 complex | KCNE2KCNQ1 | P51787Q9Y6J6 | 0:0 | CORUM | CORUM:6704 | 11101505 |
| KCNQ1-KCNE4 complex | KCNE4KCNQ1 | P51787Q8WWG9 | 0:0 | CORUM | CORUM:6708 | 20533308 |
| KCNQ1-KCNE5 complex | KCNE5KCNQ1 | P51787Q9UJ90 | 0:0 | CORUM | CORUM:6709 | 20533308 |
| Kv7.1 channel complex | CALM2KCNQ1 | P0DP24P51787 | 2:2 | ComplexPortal | PDB:4umoPDB:6uzzPDB:4v0cintact:EBI-12600200 | 147552921655686625441029 |
| CALM1KCNQ1 | P0DP23P51787 | 2:2 | PDB | PDB:4umoPDB:7vuoPDB:8sinPDB:6uzzPDB:4v0cPDB:7vvhPDB:8sikPDB:8simPDB:7vvd | ||
| CALM3KCNQ1 | P0DP25P51787 | 4:4 | PDB | PDB:7xnlPDB:7xnkPDB:7xnnPDB:7xni |
Isolation & Detection Technology
1 record.
| EV Isolation Method | Detection Method | Number of References | References |
|---|---|---|---|
| Protein Organic Solvent Precipitation | Mass spectrometryR Sequencing | 1 | 32384937 |
Sequence, Structure & Domains
Sequences
Length
676
Mass
74,699
Sequence
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLPTYEQLTVPRRGPDEGS
Alternative Products
Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; IsoId=P51787-1; Sequence=Displayed; Name=2; Synonyms=TKvLQT1; IsoId=P51787-2; Sequence=VSP_000981, VSP_000982
Alternative Sequence
1..127; Missing (in isoform 2); 128..129; AV -> MD (in isoform 2)
3D Structural Models
Turn
564..566
Helix
106..114; 121..141; 142..144; 146..148; 151..176; 178..180; 182..184; 186..194; 197..215; 224..236; 237..240; 246..284; 299..310; 323..335; 337..340; 342..360; 361..363; 367..383; 390..394; 402..424; 507..531; 538..554; 588..609
Beta Strand
241..244; 290..292; 316..318; 386..389
3D Structure
Electron microscopy (15); NMR spectroscopy (1); X-ray crystallography (8)
Domain & Motif Annotations
Compositional Bias
62..73; Pro residues; 623..632; Gly residues; 655..664; Polar residues
Coiled Coil
585..621
Domain (CC)
Each channel subunit contains six transmembrane segments (S1-S6) with S1-S4 forming one voltage sensing domain (VSD) and S5-S6 contributing to form one quarter of an interlocking pore-forming domain (PD).; DOMAIN: The segment S6 is involved in the inhibition of voltage-gated potassium channel activity by KCNE4..; DOMAIN: The CALM binding domains correspond to the first two membrane-proximal helical regions that interact with a single calmodulin/CALM molecule forming a clamp-like structure (PubMed:16556865, PubMed:25441029). Binding of CALM C-terminus to the first helix is calcium-independent and is essential for assembly of the structure. Binding of CALM N-terminus to the second helix is calcium-dependent and regulates electrophysiological activity of the channel (PubMed:16556865, PubMed:25441029).; DOMAIN: Residues Lys-526 and Lys-527 in the second helical region of the proximal C-terminus form a critical site where calcium-bound CALM N-lobe competes with PIP2 for the binding to KCNQ1 in order to stabilize the channel open state.; DOMAIN: The C-terminal assembly domain carries the major determinants of tetramerization and subunit assembly specificity. Its coiled-coil region is four-stranded.
Region
1..28; Disordered; 62..84; Disordered; 238..246; Interaction with KCNE3; 370..382; Interaction with CALM; 515..529; Interaction with CALM; calcium-dependent; 535..572; Interaction with KCNE1 C-terminus; 588..616; Interaction with AKAP9; 589..620; C-terminal assembly domain (tetramerization); 620..676; Disordered
Protein Families
- Potassium channel family
- KQT (TC 1.A.1.15) subfamily
- Kv7.1/KCNQ1 sub-subfamily
Sequence Similarities
Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily.
Clinical Relevance
Disease Involvement
Atrial fibrillationDeafnessDiabetes mellitusDisease variantFDA approved drug targetsLong QT syndromeShort QT syndrome
Related Diseases
Biomarker
Approved
Drug Targets
FDA approved drug targets
Drugs
Interaction Protein
ENSG00000180509
Interaction Count
1
Interaction Dataset
intact_biogrid