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Protein

Potassium voltage-gated channel subfamily KQT member 3

Gene

KCNQ3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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. Therefore, it is important in the regulation of neuronal excitability.4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • calmodulin binding Source: UniProtKB
  • delayed rectifier potassium channel activity Source: GO_Central
  • voltage-gated potassium channel activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-445095 Interaction between L1 and Ankyrins

SIGNOR Signaling Network Open Resource

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SIGNORi
O43525

Protein family/group databases

Transport Classification Database

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TCDBi
1.A.1.15.3 the voltage-gated ion channel (vic) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily KQT member 3Curated
Alternative name(s):
KQT-like 3
Potassium channel subunit alpha KvLQT3
Voltage-gated potassium channel subunit Kv7.3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KCNQ3Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000184156.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6297 KCNQ3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602232 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O43525

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 121CytoplasmicSequence analysisAdd BLAST121
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei122 – 142Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini143 – 152ExtracellularSequence analysis10
Transmembranei153 – 173Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini174 – 196CytoplasmicSequence analysisAdd BLAST23
Transmembranei197 – 217Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini218 – 225ExtracellularSequence analysis8
Transmembranei226 – 247Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST22
Topological domaini248 – 261CytoplasmicSequence analysisAdd BLAST14
Transmembranei262 – 282Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini283 – 303ExtracellularSequence analysisAdd BLAST21
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei304 – 324Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Topological domaini325 – 330ExtracellularSequence analysis6
Transmembranei331 – 351Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini352 – 872CytoplasmicSequence analysisAdd BLAST521

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Seizures, benign familial neonatal 2 (BFNS2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset.
See also OMIM:121201
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026994305D → G in BFNS2; reduces the maximal heteromeric current by 40% with no alteration in voltage dependence of activation or deactivation kinetics. 1 PublicationCorresponds to variant dbSNP:rs118192248EnsemblClinVar.1
Natural variantiVAR_010935309W → R in BFNS2. 1 PublicationCorresponds to variant dbSNP:rs118192249EnsemblClinVar.1
Natural variantiVAR_001546310G → V in BFNS2; about 50% reduction of wild-type heteromeric current; ratio of 1:1; or 20%; ratio of 1:1:2. 3 PublicationsCorresponds to variant dbSNP:rs118192250EnsemblClinVar.1
Natural variantiVAR_078681340G → V in BFNS2; unknown pathological significance. 1 Publication1
Defects in KCNQ3 may be involved in epileptic disorders. These are characterized by paroxysmal transient disturbances of the electrical activity of the brain that may be manifested as episodic impairment or loss of consciousness, abnormal motor phenomena, psychic or sensory disturbances, or perturbation of the autonomic nervous system.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi246T → A: No effect on current or expression. 1 Publication1
Mutagenesisi246T → D: Abolishes currents without reducing channel protein expression. 1 Publication1
Mutagenesisi318G → S: >50% Reduction of wt heteromeric current; ratio of 1:1 and 1:1:2. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
3786

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
KCNQ3

MalaCards human disease database

More...
MalaCardsi
KCNQ3
MIMi121201 phenotype

Open Targets

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OpenTargetsi
ENSG00000184156

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
306 Benign familial infantile epilepsy
1949 Benign familial neonatal epilepsy
307 Juvenile myoclonic epilepsy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30075

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2684

Drug and drug target database

More...
DrugBanki
DB00321 Amitriptyline
DB00586 Diclofenac
DB04953 Ezogabine
DB06089 ICA-105665
DB00939 Meclofenamic acid

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
562

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KCNQ3

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000540341 – 872Potassium voltage-gated channel subfamily KQT member 3Add BLAST872

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei81PhosphothreonineBy similarity1
Modified residuei246Phosphothreonine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads to protein degradation (Probable). Degradation induced by NEDD4L is inhibited by USP36 (PubMed:27445338).1 Publication1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O43525

PeptideAtlas

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PeptideAtlasi
O43525

PRoteomics IDEntifications database

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PRIDEi
O43525

ProteomicsDB human proteome resource

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ProteomicsDBi
49030

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43525

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O43525

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Predominantly expressed in brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000184156 Expressed in 129 organ(s), highest expression level in caudate nucleus

CleanEx database of gene expression profiles

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CleanExi
HS_KCNQ3

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43525 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43525 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterotetramer with KCNQ2; form the heterotetrameric M potassium channel (PubMed:27564677). Interacts with calmodulin; the interaction is calcium-independent, constitutive and participates to the proper assembly of a functional heterotetrameric M channel (PubMed:27564677). Heteromultimer with KCNQ5 (PubMed:11159685). May associate with KCNE2 (PubMed:11034315). Interacts with IQCJ-SCHIP1 (By similarity).By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109987, 2 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O43525

STRING: functional protein association networks

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STRINGi
9606.ENSP00000373648

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
O43525

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1872
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5J03X-ray2.00A354-409[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O43525

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O43525

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni356 – 537Mediates interaction with calmodulin1 PublicationAdd BLAST182

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi316 – 321Selectivity filterBy similarity6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi13 – 24Poly-GlyAdd BLAST12

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1419 Eukaryota
COG1226 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159760

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000220839

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG059014

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43525

KEGG Orthology (KO)

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KOi
K04928

Identification of Orthologs from Complete Genome Data

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OMAi
HVTEYYP

Database of Orthologous Groups

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OrthoDBi
903831at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O43525

TreeFam database of animal gene trees

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TreeFami
TF315186

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR020969 Ankyrin-G_BS
IPR005821 Ion_trans_dom
IPR003937 K_chnl_volt-dep_KCNQ
IPR003948 K_chnl_volt-dep_KCNQ3
IPR013821 K_chnl_volt-dep_KCNQ_C
IPR028325 VG_K_chnl

The PANTHER Classification System

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PANTHERi
PTHR11537 PTHR11537, 1 hit
PTHR11537:SF5 PTHR11537:SF5, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00520 Ion_trans, 1 hit
PF03520 KCNQ_channel, 1 hit
PF11956 KCNQC3-Ank-G_bd, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00169 KCHANNEL
PR01462 KCNQ3CHANNEL
PR01459 KCNQCHANNEL

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43525-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGLKARRAAG AAGGGGDGGG GGGGAANPAG GDAAAAGDEE RKVGLAPGDV
60 70 80 90 100
EQVTLALGAG ADKDGTLLLE GGGRDEGQRR TPQGIGLLAK TPLSRPVKRN
110 120 130 140 150
NAKYRRIQTL IYDALERPRG WALLYHALVF LIVLGCLILA VLTTFKEYET
160 170 180 190 200
VSGDWLLLLE TFAIFIFGAE FALRIWAAGC CCRYKGWRGR LKFARKPLCM
210 220 230 240 250
LDIFVLIASV PVVAVGNQGN VLATSLRSLR FLQILRMLRM DRRGGTWKLL
260 270 280 290 300
GSAICAHSKE LITAWYIGFL TLILSSFLVY LVEKDVPEVD AQGEEMKEEF
310 320 330 340 350
ETYADALWWG LITLATIGYG DKTPKTWEGR LIAATFSLIG VSFFALPAGI
360 370 380 390 400
LGSGLALKVQ EQHRQKHFEK RRKPAAELIQ AAWRYYATNP NRIDLVATWR
410 420 430 440 450
FYESVVSFPF FRKEQLEAAS SQKLGLLDRV RLSNPRGSNT KGKLFTPLNV
460 470 480 490 500
DAIEESPSKE PKPVGLNNKE RFRTAFRMKA YAFWQSSEDA GTGDPMAEDR
510 520 530 540 550
GYGNDFPIED MIPTLKAAIR AVRILQFRLY KKKFKETLRP YDVKDVIEQY
560 570 580 590 600
SAGHLDMLSR IKYLQTRIDM IFTPGPPSTP KHKKSQKGSA FTFPSQQSPR
610 620 630 640 650
NEPYVARPST SEIEDQSMMG KFVKVERQVQ DMGKKLDFLV DMHMQHMERL
660 670 680 690 700
QVQVTEYYPT KGTSSPAEAE KKEDNRYSDL KTIICNYSET GPPEPPYSFH
710 720 730 740 750
QVTIDKVSPY GFFAHDPVNL PRGGPSSGKV QATPPSSATT YVERPTVLPI
760 770 780 790 800
LTLLDSRVSC HSQADLQGPY SDRISPRQRR SITRDSDTPL SLMSVNHEEL
810 820 830 840 850
ERSPSGFSIS QDRDDYVFGP NGGSSWMREK RYLAEGETDT DTDPFTPSGS
860 870
MPLSSTGDGI SDSVWTPSNK PI
Length:872
Mass (Da):96,742
Last modified:July 15, 1999 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iBB79C69EE8591A84
GO
Isoform 2 (identifier: O43525-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MGLKARRAA → MKPAEHATM
     10-129: Missing.

Note: No experimental confirmation available.
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Length:752
Mass (Da):84,804
Checksum:iBC8C18D5BE17F0DB
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WZB4A0A087WZB4_HUMAN
Potassium voltage-gated channel sub...
KCNQ3
751Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7ET42E7ET42_HUMAN
Potassium voltage-gated channel sub...
KCNQ3
860Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQ71A0A1W2PQ71_HUMAN
Potassium voltage-gated channel sub...
KCNQ3
716Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PNZ2A0A1W2PNZ2_HUMAN
Potassium voltage-gated channel sub...
KCNQ3
319Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRN8A0A1W2PRN8_HUMAN
Potassium voltage-gated channel sub...
KCNQ3
89Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAI28577 differs from that shown. Aberrant splicing.Curated
The sequence AAI28577 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti62D → N in AAI28577 (PubMed:15489334).Curated1
Sequence conflicti233Q → L in BAG58996 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026994305D → G in BFNS2; reduces the maximal heteromeric current by 40% with no alteration in voltage dependence of activation or deactivation kinetics. 1 PublicationCorresponds to variant dbSNP:rs118192248EnsemblClinVar.1
Natural variantiVAR_010935309W → R in BFNS2. 1 PublicationCorresponds to variant dbSNP:rs118192249EnsemblClinVar.1
Natural variantiVAR_001546310G → V in BFNS2; about 50% reduction of wild-type heteromeric current; ratio of 1:1; or 20%; ratio of 1:1:2. 3 PublicationsCorresponds to variant dbSNP:rs118192250EnsemblClinVar.1
Natural variantiVAR_078681340G → V in BFNS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_053859414E → G. Corresponds to variant dbSNP:rs2303995EnsemblClinVar.1
Natural variantiVAR_026995468N → S Has no statistically significant effect on the current or biophysical properties of the heteromeric channel. 1 PublicationCorresponds to variant dbSNP:rs118192252Ensembl.1
Natural variantiVAR_072741574P → S Rare variant; found in a patient with rolandic epilepsy and additional features such as mild developmental delay and abnormal behavior; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74582884EnsemblClinVar.1
Natural variantiVAR_078682780R → C Found in patients with benign familial infantile seizures; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138852641EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0449061 – 9MGLKARRAA → MKPAEHATM in isoform 2. 1 Publication9
Alternative sequenceiVSP_04490710 – 129Missing in isoform 2. 1 PublicationAdd BLAST120

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF071491
, AF071478, AF071479, AF071480, AF071481, AF071482, AF071483, AF071484, AF071485, AF071486, AF071487, AF071488, AF071489, AF071490 Genomic DNA Translation: AAC96101.1
AK296293 mRNA Translation: BAG58996.1
AC018540 Genomic DNA No translation available.
AC123776 Genomic DNA No translation available.
AC131042 Genomic DNA No translation available.
AC136373 Genomic DNA No translation available.
BC128576 mRNA Translation: AAI28577.1 Sequence problems.
AF033347 mRNA Translation: AAB97314.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS34943.1 [O43525-1]
CCDS56554.1 [O43525-2]

NCBI Reference Sequences

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RefSeqi
NP_001191753.1, NM_001204824.1 [O43525-2]
NP_004510.1, NM_004519.3 [O43525-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.374023

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000388996; ENSP00000373648; ENSG00000184156 [O43525-1]
ENST00000521134; ENSP00000429799; ENSG00000184156 [O43525-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3786

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3786

UCSC genome browser

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UCSCi
uc003yti.4 human [O43525-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF071491
, AF071478, AF071479, AF071480, AF071481, AF071482, AF071483, AF071484, AF071485, AF071486, AF071487, AF071488, AF071489, AF071490 Genomic DNA Translation: AAC96101.1
AK296293 mRNA Translation: BAG58996.1
AC018540 Genomic DNA No translation available.
AC123776 Genomic DNA No translation available.
AC131042 Genomic DNA No translation available.
AC136373 Genomic DNA No translation available.
BC128576 mRNA Translation: AAI28577.1 Sequence problems.
AF033347 mRNA Translation: AAB97314.1
CCDSiCCDS34943.1 [O43525-1]
CCDS56554.1 [O43525-2]
RefSeqiNP_001191753.1, NM_001204824.1 [O43525-2]
NP_004510.1, NM_004519.3 [O43525-1]
UniGeneiHs.374023

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5J03X-ray2.00A354-409[»]
ProteinModelPortaliO43525
SMRiO43525
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109987, 2 interactors
CORUMiO43525
STRINGi9606.ENSP00000373648

Chemistry databases

BindingDBiO43525
ChEMBLiCHEMBL2684
DrugBankiDB00321 Amitriptyline
DB00586 Diclofenac
DB04953 Ezogabine
DB06089 ICA-105665
DB00939 Meclofenamic acid
GuidetoPHARMACOLOGYi562

Protein family/group databases

TCDBi1.A.1.15.3 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiO43525
PhosphoSitePlusiO43525

Polymorphism and mutation databases

BioMutaiKCNQ3

Proteomic databases

PaxDbiO43525
PeptideAtlasiO43525
PRIDEiO43525
ProteomicsDBi49030

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3786
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000388996; ENSP00000373648; ENSG00000184156 [O43525-1]
ENST00000521134; ENSP00000429799; ENSG00000184156 [O43525-2]
GeneIDi3786
KEGGihsa:3786
UCSCiuc003yti.4 human [O43525-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3786
DisGeNETi3786
EuPathDBiHostDB:ENSG00000184156.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KCNQ3
GeneReviewsiKCNQ3
HGNCiHGNC:6297 KCNQ3
MalaCardsiKCNQ3
MIMi121201 phenotype
602232 gene
neXtProtiNX_O43525
OpenTargetsiENSG00000184156
Orphaneti306 Benign familial infantile epilepsy
1949 Benign familial neonatal epilepsy
307 Juvenile myoclonic epilepsy
PharmGKBiPA30075

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1419 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00940000159760
HOGENOMiHOG000220839
HOVERGENiHBG059014
InParanoidiO43525
KOiK04928
OMAiHVTEYYP
OrthoDBi903831at2759
PhylomeDBiO43525
TreeFamiTF315186

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels
R-HSA-445095 Interaction between L1 and Ankyrins
SIGNORiO43525

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
KCNQ3 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KvLQT3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
3786

Protein Ontology

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PROi
PR:O43525

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000184156 Expressed in 129 organ(s), highest expression level in caudate nucleus
CleanExiHS_KCNQ3
ExpressionAtlasiO43525 baseline and differential
GenevisibleiO43525 HS

Family and domain databases

InterProiView protein in InterPro
IPR020969 Ankyrin-G_BS
IPR005821 Ion_trans_dom
IPR003937 K_chnl_volt-dep_KCNQ
IPR003948 K_chnl_volt-dep_KCNQ3
IPR013821 K_chnl_volt-dep_KCNQ_C
IPR028325 VG_K_chnl
PANTHERiPTHR11537 PTHR11537, 1 hit
PTHR11537:SF5 PTHR11537:SF5, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 1 hit
PF03520 KCNQ_channel, 1 hit
PF11956 KCNQC3-Ank-G_bd, 1 hit
PRINTSiPR00169 KCHANNEL
PR01462 KCNQ3CHANNEL
PR01459 KCNQCHANNEL

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKCNQ3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43525
Secondary accession number(s): A2VCT8, B4DJY4, E7EQ89
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: January 16, 2019
This is version 181 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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