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Entry version 171 (17 Jun 2020)
Sequence version 3 (09 Jan 2007)
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Protein

Potassium voltage-gated channel subfamily KQT member 5

Gene

KCNQ5

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 KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. Therefore, it is important in the regulation of neuronal excitability. May contribute, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the anticonvulsant retigabine. As the native M-channel, the potassium channel composed of KCNQ3 and KCNQ5 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1.3 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

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

<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%5Fand%5Ftaxonomy%5Fsection">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 5
Alternative name(s):
KQT-like 5
Potassium channel subunit alpha KvLQT5
Voltage-gated potassium channel subunit Kv7.5
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:KCNQ5
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000185760.15

Human Gene Nomenclature Database

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HGNCi
HGNC:6299 KCNQ5

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607357 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NR82

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 125CytoplasmicSequence analysisAdd BLAST125
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei126 – 146Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini147 – 156ExtracellularSequence analysis10
Transmembranei157 – 177Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini178 – 200CytoplasmicSequence analysisAdd BLAST23
Transmembranei201 – 221Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini222 – 229ExtracellularSequence analysis8
Transmembranei230 – 252Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST23
Topological domaini253 – 266CytoplasmicSequence analysisAdd BLAST14
Transmembranei267 – 287Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini288 – 298ExtracellularSequence analysisAdd BLAST11
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Intramembranei299 – 319Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Topological domaini320 – 325ExtracellularSequence analysis6
Transmembranei326 – 346Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini347 – 932CytoplasmicSequence analysisAdd BLAST586

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

Mental retardation, autosomal dominant 46 (MRD46)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD46 patients manifest developmental delay and mild to moderate intellectual disability.
Related information in OMIM
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_079219145V → G in MRD46; decreased protein abundance; decreased potassium ion transmembrane transport; changed voltage-gated potassium channel activity; changed gating properties. 1 PublicationCorresponds to variant dbSNP:rs1135401955EnsemblClinVar.1
Natural variantiVAR_079220341L → I in MRD46; decreased protein abundance; decreased potassium ion transmembrane transport; changed voltage-gated potassium channel activity; changed gating properties. 1 PublicationCorresponds to variant dbSNP:rs1135401956EnsemblClinVar.1
Natural variantiVAR_079221369P → R in MRD46; no effect on protein abundance; no effect on potassium ion transmembrane transport; increased voltage-gated potassium channel activity; changed gating properties resulting in a gain of function. 1 PublicationCorresponds to variant dbSNP:rs1135401958EnsemblClinVar.1
Natural variantiVAR_079222429S → I in MRD46; no effect on protein abundance; no effect on potassium ion transmembrane transport; changed voltage-gated potassium channel activity; changed gating properties. 1 PublicationCorresponds to variant dbSNP:rs1135401957Ensembl.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
56479

MalaCards human disease database

More...
MalaCardsi
KCNQ5
MIMi617601 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000185760

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

More...
Orphaneti
178469 Autosomal dominant non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30077

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NR82 Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2925

Drug and drug target database

More...
DrugBanki
DB04953 Ezogabine
DB00996 Gabapentin
DB06089 ICA-105665

DrugCentral

More...
DrugCentrali
Q9NR82

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
564

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
KCNQ5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
122065285

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000540401 – 932Potassium voltage-gated channel subfamily KQT member 5Add BLAST932

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 residuei88PhosphoserineBy similarity1
Modified residuei447PhosphoserineBy similarity1
Modified residuei831PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NR82

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NR82

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

More...
PaxDbi
Q9NR82

PeptideAtlas

More...
PeptideAtlasi
Q9NR82

PRoteomics IDEntifications database

More...
PRIDEi
Q9NR82

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
1710
1972
25137
82300 [Q9NR82-1]
82301 [Q9NR82-2]
82302 [Q9NR82-3]
82303 [Q9NR82-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NR82

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

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PhosphoSitePlusi
Q9NR82

<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

Strongly expressed in brain and skeletal muscle. In brain, expressed in cerebral cortex, occipital pole, frontal lobe and temporal lobe. Lower levels in hippocampus and putamen. Low to undetectable levels in medulla, cerebellum and thalamus.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000185760 Expressed in quadriceps femoris and 125 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NR82 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NR82 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000185760 Group enriched (bone marrow, brain, skeletal muscle, thyroid gland)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heteromultimer with KCNQ3 (PubMed:11159685, PubMed:10787416). Heterotetramer with KCNQ1; has a voltage-gated potassium channel activity (PubMed:24855057).

3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
121149, 8 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9NR82

Protein interaction database and analysis system

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IntActi
Q9NR82, 6 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000345055

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9NR82

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NR82 protein

<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

1932
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q9NR82

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
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

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>Motifi311 – 316Selectivity filterBy similarity6

<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

More...
GeneTreei
ENSGT00940000155933

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_673604_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NR82

KEGG Orthology (KO)

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KOi
K04930

Identification of Orthologs from Complete Genome Data

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OMAi
DATWRHY

Database of Orthologous Groups

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OrthoDBi
1168835at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NR82

TreeFam database of animal gene trees

More...
TreeFami
TF315186

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR005821 Ion_trans_dom
IPR003937 K_chnl_volt-dep_KCNQ
IPR013821 K_chnl_volt-dep_KCNQ_C
IPR043238 KCNQ5

The PANTHER Classification System

More...
PANTHERi
PTHR47735 PTHR47735, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00520 Ion_trans, 1 hit
PF03520 KCNQ_channel, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 7 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NR82-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MPRHHAGGEE GGAAGLWVKS GAAAAAAGGG RLGSGMKDVE SGRGRVLLNS
60 70 80 90 100
AAARGDGLLL LGTRAATLGG GGGGLRESRR GKQGARMSLL GKPLSYTSSQ
110 120 130 140 150
SCRRNVKYRR VQNYLYNVLE RPRGWAFIYH AFVFLLVFGC LILSVFSTIP
160 170 180 190 200
EHTKLASSCL LILEFVMIVV FGLEFIIRIW SAGCCCRYRG WQGRLRFARK
210 220 230 240 250
PFCVIDTIVL IASIAVVSAK TQGNIFATSA LRSLRFLQIL RMVRMDRRGG
260 270 280 290 300
TWKLLGSVVY AHSKELITAW YIGFLVLIFS SFLVYLVEKD ANKEFSTYAD
310 320 330 340 350
ALWWGTITLT TIGYGDKTPL TWLGRLLSAG FALLGISFFA LPAGILGSGF
360 370 380 390 400
ALKVQEQHRQ KHFEKRRNPA ANLIQCVWRS YAADEKSVSI ATWKPHLKAL
410 420 430 440 450
HTCSPTKKEQ GEASSSQKLS FKERVRMASP RGQSIKSRQA SVGDRRSPST
460 470 480 490 500
DITAEGSPTK VQKSWSFNDR TRFRPSLRLK SSQPKPVIDA DTALGTDDVY
510 520 530 540 550
DEKGCQCDVS VEDLTPPLKT VIRAIRIMKF HVAKRKFKET LRPYDVKDVI
560 570 580 590 600
EQYSAGHLDM LCRIKSLQTR VDQILGKGQI TSDKKSREKI TAEHETTDDL
610 620 630 640 650
SMLGRVVKVE KQVQSIESKL DCLLDIYQQV LRKGSASALA LASFQIPPFE
660 670 680 690 700
CEQTSDYQSP VDSKDLSGSA QNSGCLSRST SANISRGLQF ILTPNEFSAQ
710 720 730 740 750
TFYALSPTMH SQATQVPISQ SDGSAVAATN TIANQINTAP KPAAPTTLQI
760 770 780 790 800
PPPLPAIKHL PRPETLHPNP AGLQESISDV TTCLVASKEN VQVAQSNLTK
810 820 830 840 850
DRSMRKSFDM GGETLLSVCP MVPKDLGKSL SVQNLIRSTE ELNIQLSGSE
860 870 880 890 900
SSGSRGSQDF YPKWRESKLF ITDEEVGPEE TETDTFDAAP QPAREAAFAS
910 920 930
DSLRTGRSRS SQSICKAGES TDALSLPHVK LK
Length:932
Mass (Da):102,179
Last modified:January 9, 2007 - v3
<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:iCB41C243FD2B00FC
GO
Isoform 2 (identifier: Q9NR82-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     407-416: KKEQGEASSS → N

Show »
Length:923
Mass (Da):101,261
Checksum:i3471634490A35B18
GO
Isoform 3 (identifier: Q9NR82-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     407-416: KKEQGEASSS → NKFCSNKQKLFRMYTSRKQS

Show »
Length:942
Mass (Da):103,624
Checksum:iF7580704F95D1CC3
GO
Isoform 4 (identifier: Q9NR82-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     416-427: SQKLSFKERVRM → RFVISLLLHVCL
     428-932: Missing.

Show »
Length:427
Mass (Da):46,943
Checksum:i175F91B7BB48836B
GO
Isoform 5 (identifier: Q9NR82-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     416-525: Missing.

Show »
Length:822
Mass (Da):89,987
Checksum:iEC339886F1755506
GO
Isoform 6 (identifier: Q9NR82-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     416-416: S → SKFCSNKQKLFRMYTSRKQS

Show »
Length:951
Mass (Da):104,542
Checksum:iDB6CFDB0C6267F6F
GO
Isoform 7 (identifier: Q9NR82-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     408-416: KEQGEASSS → QNQQGESQSC

Show »
Length:933
Mass (Da):102,365
Checksum:i6B39865CBDB05D2E
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MT07A0A0A0MT07_HUMAN
Potassium voltage-gated channel sub...
KCNQ5
822Annotation 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>
F8WEA4F8WEA4_HUMAN
Potassium voltage-gated channel sub...
KCNQ5
932Annotation 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>
A0A0A0MRC8A0A0A0MRC8_HUMAN
Potassium voltage-gated channel sub...
KCNQ5
951Annotation 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>
A0A0A0MSC0A0A0A0MSC0_HUMAN
Potassium voltage-gated channel sub...
KCNQ5
923Annotation 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>
A0A0A0MSD9A0A0A0MSD9_HUMAN
Potassium voltage-gated channel sub...
KCNQ5
942Annotation 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>
H0Y3Z0H0Y3Z0_HUMAN
Potassium voltage-gated channel sub...
KCNQ5
97Annotation 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>
A6PVT7A6PVT7_HUMAN
Potassium voltage-gated channel sub...
KCNQ5
68Annotation 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>
A6PVT8A6PVT8_HUMAN
Potassium voltage-gated channel sub...
KCNQ5
90Annotation 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 BAG61495 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti92 – 93KP → SR in AAF91335 (PubMed:10787416).Curated2
Sequence conflicti109R → Q in BAG61495 (PubMed:14702039).Curated1
Sequence conflicti129Y → H in AAF73446 (Ref. 7) Curated1
Sequence conflicti727A → V in AAF73446 (Ref. 7) Curated1
Sequence conflicti799T → P in AAF73446 (Ref. 7) Curated1
Sequence conflicti857S → R in AAF73446 (Ref. 7) Curated1
Sequence conflicti909R → Q in AAF73446 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079219145V → G in MRD46; decreased protein abundance; decreased potassium ion transmembrane transport; changed voltage-gated potassium channel activity; changed gating properties. 1 PublicationCorresponds to variant dbSNP:rs1135401955EnsemblClinVar.1
Natural variantiVAR_035772191W → G in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_035773244R → C in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1314919218Ensembl.1
Natural variantiVAR_079220341L → I in MRD46; decreased protein abundance; decreased potassium ion transmembrane transport; changed voltage-gated potassium channel activity; changed gating properties. 1 PublicationCorresponds to variant dbSNP:rs1135401956EnsemblClinVar.1
Natural variantiVAR_079221369P → R in MRD46; no effect on protein abundance; no effect on potassium ion transmembrane transport; increased voltage-gated potassium channel activity; changed gating properties resulting in a gain of function. 1 PublicationCorresponds to variant dbSNP:rs1135401958EnsemblClinVar.1
Natural variantiVAR_079222429S → I in MRD46; no effect on protein abundance; no effect on potassium ion transmembrane transport; changed voltage-gated potassium channel activity; changed gating properties. 1 PublicationCorresponds to variant dbSNP:rs1135401957Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001014407 – 416KKEQGEASSS → N in isoform 2. 2 Publications10
Alternative sequenceiVSP_001015407 – 416KKEQGEASSS → NKFCSNKQKLFRMYTSRKQS in isoform 3. 1 Publication10
Alternative sequenceiVSP_056730408 – 416KEQGEASSS → QNQQGESQSC in isoform 7. Curated9
Alternative sequenceiVSP_045487416 – 525Missing in isoform 5. 1 PublicationAdd BLAST110
Alternative sequenceiVSP_022318416 – 427SQKLS…ERVRM → RFVISLLLHVCL in isoform 4. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_056731416S → SKFCSNKQKLFRMYTSRKQS in isoform 6. Curated1
Alternative sequenceiVSP_022319428 – 932Missing in isoform 4. 1 PublicationAdd BLAST505

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

More...
DDBJi
Links Updated
AF249278 mRNA Translation: AAF91335.1
AL445569 Genomic DNA No translation available.
AL049845 Genomic DNA No translation available.
AL360232 Genomic DNA No translation available.
AL360236 Genomic DNA No translation available.
AL365232 Genomic DNA No translation available.
FO393414 Genomic DNA No translation available.
AL513522 Genomic DNA No translation available.
AL671823 Genomic DNA No translation available.
BC050689 mRNA Translation: AAH50689.1
BC117359 mRNA Translation: AAI17360.1
BC143554 mRNA Translation: AAI43555.1
AK299550 mRNA Translation: BAG61495.1 Different initiation.
AF202977 mRNA Translation: AAF69797.1
AJ272506 AJ272519 Genomic DNA Translation: CAC88112.1
AF263835 mRNA Translation: AAF73446.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4976.1 [Q9NR82-1]
CCDS55034.1 [Q9NR82-6]
CCDS55035.1 [Q9NR82-5]
CCDS55037.1 [Q9NR82-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001153602.1, NM_001160130.1 [Q9NR82-2]
NP_001153604.1, NM_001160132.1 [Q9NR82-3]
NP_001153605.1, NM_001160133.1 [Q9NR82-6]
NP_001153606.1, NM_001160134.1 [Q9NR82-5]
NP_062816.2, NM_019842.3 [Q9NR82-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000342056; ENSP00000345055; ENSG00000185760 [Q9NR82-6]
ENST00000370392; ENSP00000359419; ENSG00000185760 [Q9NR82-4]
ENST00000370398; ENSP00000359425; ENSG00000185760 [Q9NR82-1]
ENST00000628967; ENSP00000486187; ENSG00000185760 [Q9NR82-5]
ENST00000629977; ENSP00000485743; ENSG00000185760 [Q9NR82-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
56479

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:56479

UCSC genome browser

More...
UCSCi
uc003pgj.5 human [Q9NR82-1]

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
AF249278 mRNA Translation: AAF91335.1
AL445569 Genomic DNA No translation available.
AL049845 Genomic DNA No translation available.
AL360232 Genomic DNA No translation available.
AL360236 Genomic DNA No translation available.
AL365232 Genomic DNA No translation available.
FO393414 Genomic DNA No translation available.
AL513522 Genomic DNA No translation available.
AL671823 Genomic DNA No translation available.
BC050689 mRNA Translation: AAH50689.1
BC117359 mRNA Translation: AAI17360.1
BC143554 mRNA Translation: AAI43555.1
AK299550 mRNA Translation: BAG61495.1 Different initiation.
AF202977 mRNA Translation: AAF69797.1
AJ272506 AJ272519 Genomic DNA Translation: CAC88112.1
AF263835 mRNA Translation: AAF73446.1
CCDSiCCDS4976.1 [Q9NR82-1]
CCDS55034.1 [Q9NR82-6]
CCDS55035.1 [Q9NR82-5]
CCDS55037.1 [Q9NR82-2]
RefSeqiNP_001153602.1, NM_001160130.1 [Q9NR82-2]
NP_001153604.1, NM_001160132.1 [Q9NR82-3]
NP_001153605.1, NM_001160133.1 [Q9NR82-6]
NP_001153606.1, NM_001160134.1 [Q9NR82-5]
NP_062816.2, NM_019842.3 [Q9NR82-1]

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
6B8QX-ray2.60A/C/E/G361-394[»]
A/C/E/G512-545[»]
SMRiQ9NR82
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi121149, 8 interactors
CORUMiQ9NR82
IntActiQ9NR82, 6 interactors
STRINGi9606.ENSP00000345055

Chemistry databases

BindingDBiQ9NR82
ChEMBLiCHEMBL2925
DrugBankiDB04953 Ezogabine
DB00996 Gabapentin
DB06089 ICA-105665
DrugCentraliQ9NR82
GuidetoPHARMACOLOGYi564

PTM databases

iPTMnetiQ9NR82
PhosphoSitePlusiQ9NR82

Polymorphism and mutation databases

BioMutaiKCNQ5
DMDMi122065285

Proteomic databases

jPOSTiQ9NR82
MassIVEiQ9NR82
PaxDbiQ9NR82
PeptideAtlasiQ9NR82
PRIDEiQ9NR82
ProteomicsDBi1710
1972
25137
82300 [Q9NR82-1]
82301 [Q9NR82-2]
82302 [Q9NR82-3]
82303 [Q9NR82-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
17775 231 antibodies

Genome annotation databases

EnsembliENST00000342056; ENSP00000345055; ENSG00000185760 [Q9NR82-6]
ENST00000370392; ENSP00000359419; ENSG00000185760 [Q9NR82-4]
ENST00000370398; ENSP00000359425; ENSG00000185760 [Q9NR82-1]
ENST00000628967; ENSP00000486187; ENSG00000185760 [Q9NR82-5]
ENST00000629977; ENSP00000485743; ENSG00000185760 [Q9NR82-2]
GeneIDi56479
KEGGihsa:56479
UCSCiuc003pgj.5 human [Q9NR82-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
56479
DisGeNETi56479
EuPathDBiHostDB:ENSG00000185760.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KCNQ5
HGNCiHGNC:6299 KCNQ5
HPAiENSG00000185760 Group enriched (bone marrow, brain, skeletal muscle, thyroid gland)
MalaCardsiKCNQ5
MIMi607357 gene
617601 phenotype
neXtProtiNX_Q9NR82
OpenTargetsiENSG00000185760
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
PharmGKBiPA30077

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1419 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00940000155933
HOGENOMiCLU_673604_0_0_1
InParanoidiQ9NR82
KOiK04930
OMAiDATWRHY
OrthoDBi1168835at2759
PhylomeDBiQ9NR82
TreeFamiTF315186

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
56479 13 hits in 787 CRISPR screens

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

More...
ChiTaRSi
KCNQ5 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
KCNQ5

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

More...
GenomeRNAii
56479
PharosiQ9NR82 Tclin

Protein Ontology

More...
PROi
PR:Q9NR82
RNActiQ9NR82 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000185760 Expressed in quadriceps femoris and 125 other tissues
ExpressionAtlasiQ9NR82 baseline and differential
GenevisibleiQ9NR82 HS

Family and domain databases

InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR003937 K_chnl_volt-dep_KCNQ
IPR013821 K_chnl_volt-dep_KCNQ_C
IPR043238 KCNQ5
PANTHERiPTHR47735 PTHR47735, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 1 hit
PF03520 KCNQ_channel, 1 hit
PRINTSiPR01459 KCNQCHANNEL

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiKCNQ5_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: Q9NR82
Secondary accession number(s): A6NKT6
, A6PVT6, A8MSQ5, B4DS33, B5MC83, B7ZL37, F5GZV0, Q17RE1, Q5VVP3, Q86W40, Q9NRN0, Q9NYA6
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: January 9, 2007
Last modified: June 17, 2020
This is version 171 of the entry and version 3 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, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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