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Entry version 174 (13 Feb 2019)
Sequence version 3 (04 Nov 2008)
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Protein

Potassium voltage-gated channel subfamily C member 3

Gene

KCNC3

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

Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics (PubMed:10712820, PubMed:26997484, PubMed:22289912, PubMed:23734863, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:25756792). It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar neurons, probably via its role in regulating the duration and frequency of action potentials that in turn regulate the activity of voltage-gated Ca2+ channels and cellular Ca2+ homeostasis (By similarity). Required for normal motor function (PubMed:23734863, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:25756792). Plays a role in the reorganization of the cortical actin cytoskeleton and the formation of actin veil structures in neuronal growth cones via its interaction with HAX1 and the Arp2/3 complex (PubMed:26997484).By similarity8 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

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.1.2.13 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 C member 3
Alternative name(s):
KSHIIID
Voltage-gated potassium channel subunit Kv3.3
<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:KCNC3
<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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000131398.13

Human Gene Nomenclature Database

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HGNCi
HGNC:6235 KCNC3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
176264 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q14003

<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_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 – 290CytoplasmicCuratedAdd BLAST290
<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>Transmembranei291 – 309Helical; Name=Segment S1Sequence analysisAdd BLAST19
Transmembranei351 – 370Helical; Name=Segment S2Sequence analysisAdd BLAST20
Topological domaini371 – 379CytoplasmicSequence analysis9
Transmembranei380 – 398Helical; Name=Segment S3Sequence analysisAdd BLAST19
Transmembranei412 – 434Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST23
Topological domaini435 – 447CytoplasmicSequence analysisAdd BLAST13
Transmembranei448 – 469Helical; Name=Segment S5Sequence analysisAdd BLAST22
Transmembranei518 – 539Helical; Name=Segment S6Sequence analysisAdd BLAST22
Topological domaini540 – 757CytoplasmicCuratedAdd BLAST218

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Synapse

<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

Spinocerebellar ataxia 13 (SCA13)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients.
See also OMIM:605259
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_074194129D → N in SCA13; unknown pathological significance; changes channel activity; shifts the voltage dependence of activation. 1 Publication1
Natural variantiVAR_074196366R → H in SCA13; unknown pathological significance; dominant negative that decreases channel activity; decreases protein abundance; decreases protein stability; decreases localization to the plasma membrane; no effect on tetramerization. 2 PublicationsCorresponds to variant dbSNP:rs769502387Ensembl.1
Natural variantiVAR_029530420R → H in SCA13; dominant negative that induces loss of channel activity; decreases protein abundance; decreases protein stability; decreases localization to the plasma membrane and alters the localization of the wild-type protein; impairs N-glycosylation; no effect on tetramerization. 6 PublicationsCorresponds to variant dbSNP:rs104894699EnsemblClinVar.1
Natural variantiVAR_074197423R → H in SCA13; dominant negative that reduces channel activity; alters gating; decreases protein abundance; decreases localization to the plasma membrane; no effect on tetramerization. 5 PublicationsCorresponds to variant dbSNP:rs797044872EnsemblClinVar.1
Natural variantiVAR_029531448F → L in SCA13; alters gating; slows channel closing; decreases protein abundance; no effect on localization to the plasma membrane; no effect on N-glycosylation; no effect on tetramerization. 4 PublicationsCorresponds to variant dbSNP:rs104894700EnsemblClinVar.1
Natural variantiVAR_074198477D → N in SCA13; unknown pathological significance; no effect on channel activity. 1 PublicationCorresponds to variant dbSNP:rs148033381EnsemblClinVar.1
Natural variantiVAR_074199535V → M in SCA13; changes channel activity; shifts the voltage dependence of activation. 1 Publication1
Natural variantiVAR_074200591S → G in SCA13; unknown pathological significance; reduces channel activity; shifts the voltage dependence of activation. 1 PublicationCorresponds to variant dbSNP:rs549394447Ensembl.1
Natural variantiVAR_074201643G → S in SCA13; unknown pathological significance; no effect on channel activity. 1 PublicationCorresponds to variant dbSNP:rs778523009Ensembl.1
Natural variantiVAR_074202645P → R in SCA13; unknown pathological significance; no effect on channel activity. 1 PublicationCorresponds to variant dbSNP:rs1460306526Ensembl.1
Natural variantiVAR_074203746D → N in SCA13; unknown pathological significance; no effect on channel activity. 1 PublicationCorresponds to variant dbSNP:rs958323371Ensembl.1

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>Mutagenesisi1 – 78Missing : Loss of N-type inactivation. 1 PublicationAdd BLAST78
Mutagenesisi366R → K or A: Decreases protein abundance. 1 Publication1
Mutagenesisi420R → K or A: Decreases protein abundance. 1 Publication1
Mutagenesisi423R → K or A: Decreases protein abundance. 1 Publication1
Mutagenesisi592G → R: Loss of interaction with ACTR3. No effect on voltage-dependent channel opening or current amplitude, but decreased rate of inactivation during prolonged depolarization. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

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DisGeNETi
3748

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

More...
GeneReviewsi
KCNC3

MalaCards human disease database

More...
MalaCardsi
KCNC3
MIMi605259 phenotype

Open Targets

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OpenTargetsi
ENSG00000131398

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

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Orphaneti
98768 Spinocerebellar ataxia type 13

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30027

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2362996

Drug and drug target database

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DrugBanki
DB06637 Dalfampridine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
KCNC3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
212276500

<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_00000540551 – 757Potassium voltage-gated channel subfamily C member 3Add BLAST757

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi320N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi336N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi483N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei625Omega-N-methylarginineBy similarity1
Modified residuei686PhosphoserineBy similarity1
Modified residuei691PhosphoserineBy similarity1

<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

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14003

MaxQB - The MaxQuant DataBase

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MaxQBi
Q14003

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

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PaxDbi
Q14003

PeptideAtlas

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PeptideAtlasi
Q14003

PRoteomics IDEntifications database

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PRIDEi
Q14003

ProteomicsDB human proteome resource

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ProteomicsDBi
59785

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q14003

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

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PhosphoSitePlusi
Q14003

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000131398 Expressed in 161 organ(s), highest expression level in cerebellar vermis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14003 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14003 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA018041

<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

Homotetramer. Heterotetramer with KCNC1 (PubMed:23734863). Interacts (via C-terminus) with HAX1 (PubMed:26997484). Identified in a complex with ACTR3, a subunit of the Arp2/3 complex; this interaction is indirect and depends on the presence of HAX1 (PubMed:26997484). Interaction with HAX1 modulates channel gating (PubMed:26997484).2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109950, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000434241

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q14003

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

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SMRi
Q14003

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>Regioni1 – 78Important for normal N-type inactivation1 PublicationAdd BLAST78

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>Motifi503 – 508Selectivity 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 biasi31 – 38Poly-Pro8
Compositional biasi39 – 42Poly-Gln4
Compositional biasi81 – 85Poly-Gly5
Compositional biasi229 – 234Poly-Gly6
Compositional biasi577 – 587Poly-ProAdd BLAST11
Compositional biasi596 – 599Poly-Pro4
Compositional biasi668 – 673Poly-Ala6

<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.Curated
The cytoplasmic N-terminus mediates N-type inactivation.1 Publication
The C-terminal cytoplasmic tail contributes to the regulation of channel inactivation and to the interaction with HAX1 and the Arp2/3 complex.1 Publication

<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
KOG3713 Eukaryota
COG1226 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000163131

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231012

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG105862

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14003

KEGG Orthology (KO)

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KOi
K04889

Identification of Orthologs from Complete Genome Data

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OMAi
HPATFAF

Database of Orthologous Groups

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OrthoDBi
818306at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q14003

TreeFam database of animal gene trees

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TreeFami
TF352511

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.120.350, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000210 BTB/POZ_dom
IPR005821 Ion_trans_dom
IPR003968 K_chnl_volt-dep_Kv
IPR003974 K_chnl_volt-dep_Kv3
IPR005404 K_chnl_volt-dep_Kv3.3
IPR021105 K_chnl_volt-dep_Kv3_ID
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB
IPR028325 VG_K_chnl
IPR027359 Volt_channel_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR11537 PTHR11537, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02214 BTB_2, 1 hit
PF00520 Ion_trans, 1 hit
PF11404 Potassium_chann, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00169 KCHANNEL
PR01582 KV33CHANNEL
PR01491 KVCHANNEL
PR01498 SHAWCHANNEL

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00225 BTB, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF54695 SSF54695, 1 hit

<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>Sequence (1+)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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q14003-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLSSVCVSSF RGRQGASKQQ PAPPPQPPES PPPPPLPPQQ QQPAQPGPAA
60 70 80 90 100
SPAGPPAPRG PGDRRAEPCP GLPAAAMGRH GGGGGDSGKI VINVGGVRHE
110 120 130 140 150
TYRSTLRTLP GTRLAGLTEP EAAARFDYDP GADEFFFDRH PGVFAYVLNY
160 170 180 190 200
YRTGKLHCPA DVCGPLFEEE LGFWGIDETD VEACCWMTYR QHRDAEEALD
210 220 230 240 250
SFEAPDPAGA ANAANAAGAH DGGLDDEAGA GGGGLDGAGG ELKRLCFQDA
260 270 280 290 300
GGGAGGPPGG AGGAGGTWWR RWQPRVWALF EDPYSSRAAR YVAFASLFFI
310 320 330 340 350
LISITTFCLE THEGFIHISN KTVTQASPIP GAPPENITNV EVETEPFLTY
360 370 380 390 400
VEGVCVVWFT FEFLMRITFC PDKVEFLKSS LNIIDCVAIL PFYLEVGLSG
410 420 430 440 450
LSSKAAKDVL GFLRVVRFVR ILRIFKLTRH FVGLRVLGHT LRASTNEFLL
460 470 480 490 500
LIIFLALGVL IFATMIYYAE RIGADPDDIL GSNHTYFKNI PIGFWWAVVT
510 520 530 540 550
MTTLGYGDMY PKTWSGMLVG ALCALAGVLT IAMPVPVIVN NFGMYYSLAM
560 570 580 590 600
AKQKLPKKKN KHIPRPPQPG SPNYCKPDPP PPPPPHPHHG SGGISPPPPI
610 620 630 640 650
TPPSMGVTVA GAYPAGPHTH PGLLRGGAGG LGIMGLPPLP APGEPCPLAQ
660 670 680 690 700
EEVIEINRAD PRPNGDPAAA ALAHEDCPAI DQPAMSPEDK SPITPGSRGR
710 720 730 740 750
YSRDRACFLL TDYAPSPDGS IRKATGAPPL PPQDWRKPGP PSFLPDLNAN

AAAWISP
Length:757
Mass (Da):80,578
Last modified:November 4, 2008 - 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:iB44306B850DFD797
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ETH1E7ETH1_HUMAN
Potassium voltage-gated channel sub...
KCNC3
728Annotation 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>
E9PQY4E9PQY4_HUMAN
Potassium voltage-gated channel sub...
KCNC3
44Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07419241Q → H Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs185017345EnsemblClinVar.1
Natural variantiVAR_07419363D → G Rare polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs375912738EnsemblClinVar.1
Natural variantiVAR_074194129D → N in SCA13; unknown pathological significance; changes channel activity; shifts the voltage dependence of activation. 1 Publication1
Natural variantiVAR_074195263G → D Rare polymorphism; changes channel activity; activates more quickly and deactivates more slowly. 1 Publication1
Natural variantiVAR_074196366R → H in SCA13; unknown pathological significance; dominant negative that decreases channel activity; decreases protein abundance; decreases protein stability; decreases localization to the plasma membrane; no effect on tetramerization. 2 PublicationsCorresponds to variant dbSNP:rs769502387Ensembl.1
Natural variantiVAR_029530420R → H in SCA13; dominant negative that induces loss of channel activity; decreases protein abundance; decreases protein stability; decreases localization to the plasma membrane and alters the localization of the wild-type protein; impairs N-glycosylation; no effect on tetramerization. 6 PublicationsCorresponds to variant dbSNP:rs104894699EnsemblClinVar.1
Natural variantiVAR_074197423R → H in SCA13; dominant negative that reduces channel activity; alters gating; decreases protein abundance; decreases localization to the plasma membrane; no effect on tetramerization. 5 PublicationsCorresponds to variant dbSNP:rs797044872EnsemblClinVar.1
Natural variantiVAR_029531448F → L in SCA13; alters gating; slows channel closing; decreases protein abundance; no effect on localization to the plasma membrane; no effect on N-glycosylation; no effect on tetramerization. 4 PublicationsCorresponds to variant dbSNP:rs104894700EnsemblClinVar.1
Natural variantiVAR_074198477D → N in SCA13; unknown pathological significance; no effect on channel activity. 1 PublicationCorresponds to variant dbSNP:rs148033381EnsemblClinVar.1
Natural variantiVAR_074199535V → M in SCA13; changes channel activity; shifts the voltage dependence of activation. 1 Publication1
Natural variantiVAR_074200591S → G in SCA13; unknown pathological significance; reduces channel activity; shifts the voltage dependence of activation. 1 PublicationCorresponds to variant dbSNP:rs549394447Ensembl.1
Natural variantiVAR_074201643G → S in SCA13; unknown pathological significance; no effect on channel activity. 1 PublicationCorresponds to variant dbSNP:rs778523009Ensembl.1
Natural variantiVAR_074202645P → R in SCA13; unknown pathological significance; no effect on channel activity. 1 PublicationCorresponds to variant dbSNP:rs1460306526Ensembl.1
Natural variantiVAR_074203746D → N in SCA13; unknown pathological significance; no effect on channel activity. 1 PublicationCorresponds to variant dbSNP:rs958323371Ensembl.1

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
AF055989 mRNA Translation: AAC24118.1
AC008655 Genomic DNA No translation available.
Z11585 Genomic DNA Translation: CAA77671.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS12793.1

Protein sequence database of the Protein Information Resource

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PIRi
S19552

NCBI Reference Sequences

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RefSeqi
NP_004968.2, NM_004977.2
XP_006723266.1, XM_006723203.2
XP_011525228.1, XM_011526926.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.467146

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000477616; ENSP00000434241; ENSG00000131398

Database of genes from NCBI RefSeq genomes

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GeneIDi
3748

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3748

UCSC genome browser

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UCSCi
uc002pru.1 human

<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
AF055989 mRNA Translation: AAC24118.1
AC008655 Genomic DNA No translation available.
Z11585 Genomic DNA Translation: CAA77671.1
CCDSiCCDS12793.1
PIRiS19552
RefSeqiNP_004968.2, NM_004977.2
XP_006723266.1, XM_006723203.2
XP_011525228.1, XM_011526926.1
UniGeneiHs.467146

3D structure databases

ProteinModelPortaliQ14003
SMRiQ14003
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109950, 1 interactor
STRINGi9606.ENSP00000434241

Chemistry databases

ChEMBLiCHEMBL2362996
DrugBankiDB06637 Dalfampridine

Protein family/group databases

TCDBi1.A.1.2.13 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiQ14003
PhosphoSitePlusiQ14003

Polymorphism and mutation databases

BioMutaiKCNC3
DMDMi212276500

Proteomic databases

jPOSTiQ14003
MaxQBiQ14003
PaxDbiQ14003
PeptideAtlasiQ14003
PRIDEiQ14003
ProteomicsDBi59785

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3748
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000477616; ENSP00000434241; ENSG00000131398
GeneIDi3748
KEGGihsa:3748
UCSCiuc002pru.1 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3748
DisGeNETi3748
EuPathDBiHostDB:ENSG00000131398.13

GeneCards: human genes, protein and diseases

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GeneCardsi
KCNC3
GeneReviewsiKCNC3

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0202872
HGNCiHGNC:6235 KCNC3
HPAiHPA018041
MalaCardsiKCNC3
MIMi176264 gene
605259 phenotype
neXtProtiNX_Q14003
OpenTargetsiENSG00000131398
Orphaneti98768 Spinocerebellar ataxia type 13
PharmGKBiPA30027

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3713 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00940000163131
HOGENOMiHOG000231012
HOVERGENiHBG105862
InParanoidiQ14003
KOiK04889
OMAiHPATFAF
OrthoDBi818306at2759
PhylomeDBiQ14003
TreeFamiTF352511

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels

Miscellaneous databases

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

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ChiTaRSi
KCNC3 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KCNC3

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

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GenomeRNAii
3748

Protein Ontology

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PROi
PR:Q14003

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000131398 Expressed in 161 organ(s), highest expression level in cerebellar vermis
ExpressionAtlasiQ14003 baseline and differential
GenevisibleiQ14003 HS

Family and domain databases

Gene3Di1.20.120.350, 1 hit
InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR005821 Ion_trans_dom
IPR003968 K_chnl_volt-dep_Kv
IPR003974 K_chnl_volt-dep_Kv3
IPR005404 K_chnl_volt-dep_Kv3.3
IPR021105 K_chnl_volt-dep_Kv3_ID
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB
IPR028325 VG_K_chnl
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR11537 PTHR11537, 1 hit
PfamiView protein in Pfam
PF02214 BTB_2, 1 hit
PF00520 Ion_trans, 1 hit
PF11404 Potassium_chann, 1 hit
PRINTSiPR00169 KCHANNEL
PR01582 KV33CHANNEL
PR01491 KVCHANNEL
PR01498 SHAWCHANNEL
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiKCNC3_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: Q14003
<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, 1998
Last sequence update: November 4, 2008
Last modified: February 13, 2019
This is version 174 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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