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UniProtKB - Q9UK17 (KCND3_HUMAN)

Protein

Potassium voltage-gated channel subfamily D member 3

Gene

KCND3

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

Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi104Zinc1
Metal bindingi131Zinc1
Metal bindingi132Zinc1

<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

  • A-type (transient outward) potassium channel activity Source: GO_Central
  • ion channel binding Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW
  • voltage-gated potassium channel activity Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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
LigandMetal-binding, Potassium, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1296072 Voltage gated Potassium channels
R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.1.2.19 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 D member 3
Alternative name(s):
Voltage-gated potassium channel subunit Kv4.3
<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:KCND3
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000171385.9

Human Gene Nomenclature Database

More...HGNCi		HGNC:6239 KCND3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605411 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UK17

<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 – 181CytoplasmicSequence analysisAdd BLAST181
<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>Transmembranei182 – 202Helical; Name=Segment S1Sequence analysisAdd BLAST21
Transmembranei222 – 242Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini243 – 256CytoplasmicSequence analysisAdd BLAST14
Transmembranei257 – 277Helical; Name=Segment S3Sequence analysisAdd BLAST21
Transmembranei287 – 307Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST21
Topological domaini308 – 320CytoplasmicSequence analysisAdd BLAST13
Transmembranei321 – 341Helical; Name=Segment S5Sequence 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>Intramembranei360 – 380Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Transmembranei382 – 402Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini403 – 655CytoplasmicSequence analysisAdd BLAST253

Keywords - Cellular componenti

Cell membrane, Cell projection, 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

Spinocerebellar ataxia 19 (SCA19)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, 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. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis.
See also OMIM:607346
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_070785227Missing in SCA19; results in reduced channel activity consistent with impaired cell surface expression of the mutant protein. 1 Publication1
Natural variantiVAR_070786338V → E in SCA19. 1 Publication1
Natural variantiVAR_070787345G → V in SCA19. 1 PublicationCorresponds to variant dbSNP:rs797045634EnsemblClinVar.1
Natural variantiVAR_070788352T → P in SCA19; loss of channel activity. 1 PublicationCorresponds to variant dbSNP:rs397515476EnsemblClinVar.1
Natural variantiVAR_070789373M → I in SCA19; unknown pathological significance; causes reduced channel activity. 1 PublicationCorresponds to variant dbSNP:rs397515477EnsemblClinVar.1
Natural variantiVAR_070790377T → M in SCA19. 1 Publication1
Natural variantiVAR_079709384G → S in SCA19. 1 Publication1
Natural variantiVAR_070791390S → N in SCA19; unknown pathological significance; results in impaired cell surface expression. 1 PublicationCorresponds to variant dbSNP:rs397515478EnsemblClinVar.1
Brugada syndrome 9 (BRGDA9)2 Publications
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
See also OMIM:616399
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067694392V → I in BRGDA9; unknown pathological significance; gain of function mutation. 1 PublicationCorresponds to variant dbSNP:rs786205867EnsemblClinVar.1
Natural variantiVAR_073831450L → F in BRGDA9; unknown pathological significance; gain of function mutation. 1 PublicationCorresponds to variant dbSNP:rs150401343EnsemblClinVar.1
Natural variantiVAR_067695530S → R in BRGDA9; unknown pathological significance; does not affect the electrophysiological properties of the channel. 1 Publication1
Natural variantiVAR_067696600G → R in BRGDA9; unknown pathological significance; gain of function mutation. 2 PublicationsCorresponds to variant dbSNP:rs149344567EnsemblClinVar.1

Keywords - Diseasei

Brugada syndrome, Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

More...DisGeNETi		3752

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

More...GeneReviewsi		KCND3

MalaCards human disease database

More...MalaCardsi		KCND3
MIMi607346 phenotype
616399 phenotype

Open Targets

More...OpenTargetsi		ENSG00000171385

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

More...Orphaneti		130 Brugada syndrome
98772 Spinocerebellar ataxia type 19/22

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA210

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1964

Drug and drug target database

More...DrugBanki		DB00321 Amitriptyline
DB06637 Dalfampridine
DB00280 Disopyramide
DB00458 Imipramine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KCND3

Domain mapping of disease mutations (DMDM)

More...DMDMi		92090984

<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_00000540681 – 655Potassium voltage-gated channel subfamily D member 3Add BLAST655

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 residuei153PhosphoserineBy similarity1
Modified residuei459PhosphothreonineBy similarity1
Modified residuei569Phosphoserine; by CaMK2DBy similarity1
Modified residuei585PhosphoserineBy 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

Regulated through phosphorylation at Ser-569 by CaMK2D.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UK17

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

More...PaxDbi		Q9UK17

PeptideAtlas

More...PeptideAtlasi		Q9UK17

PRoteomics IDEntifications database

More...PRIDEi		Q9UK17

ProteomicsDB human proteome resource

More...ProteomicsDBi		84705
84706 [Q9UK17-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UK17

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

More...PhosphoSitePlusi		Q9UK17

<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

Highly expressed in heart and brain, in particular in cortex, cerebellum, amygdala and caudate nucleus. Detected at lower levels in liver, skeletal muscle, kidney and pancreas. Isoform 1 predominates in most tissues. Isoform 1 and isoform 2 are detected at similar levels in brain, skeletal muscle and pancreas.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000171385 Expressed in 211 organ(s), highest expression level in cerebellum

CleanEx database of gene expression profiles

More...CleanExi		HS_KCND3

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UK17 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UK17 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA029452

<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 or heterotetramer with KCND1 and/or KCND2. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4 (By similarity). Interacts with KCNE1, KCNE2, SCN1B and KCNAB1 and DLG1.By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
KCNIP1Q9NZI23EBI-9825212,EBI-2120635

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		109954, 36 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3256 Kv4.3-KChIP1 channel complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9UK17

Protein interaction database and analysis system

More...IntActi		Q9UK17, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000319591

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9UK17

<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

1655
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S1GX-ray2.60A/B29-143[»]
2NZ0X-ray3.20B/D6-145[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9UK17

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

More...SMRi		Q9UK17

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9UK17

<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>Regioni2 – 20Interaction with KCNIP2By similarityAdd BLAST19
Regioni472 – 487Mediates dendritic targetingBy similarityAdd BLAST16

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>Motifi367 – 372Selectivity 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.

<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

Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.3/KCND3 sub-subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4390 Eukaryota
COG1226 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155343

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG106687

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UK17

KEGG Orthology (KO)

More...KOi		K04893

Identification of Orthologs from Complete Genome Data

More...OMAi		GTCCTRR

Database of Orthologous Groups

More...OrthoDBi		469107at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UK17

TreeFam database of animal gene trees

More...TreeFami		TF313103

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.120.350, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000210 BTB/POZ_dom
IPR005821 Ion_trans_dom
IPR003968 K_chnl_volt-dep_Kv
IPR003975 K_chnl_volt-dep_Kv4
IPR004056 K_chnl_volt-dep_Kv4.3
IPR024587 K_chnl_volt-dep_Kv4_C
IPR021645 Shal-type_N
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB
IPR028325 VG_K_chnl
IPR027359 Volt_channel_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR11537 PTHR11537, 4 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02214 BTB_2, 1 hit
PF11879 DUF3399, 1 hit
PF00520 Ion_trans, 1 hit
PF11601 Shal-type, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00169 KCHANNEL
PR01518 KV43CHANNEL
PR01491 KVCHANNEL
PR01497 SHALCHANNEL

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00225 BTB, 1 hit

Superfamily database of structural and functional annotation

More...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>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
Isoform 1 (identifier: Q9UK17-1) [UniParc]FASTAAdd to basket
Also known as: KCND3L, Long

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
MAAGVAAWLP FARAAAIGWM PVANCPMPLA PADKNKRQDE LIVLNVSGRR 
        60         70         80         90        100
FQTWRTTLER YPDTLLGSTE KEFFFNEDTK EYFFDRDPEV FRCVLNFYRT 
       110        120        130        140        150
GKLHYPRYEC ISAYDDELAF YGILPEIIGD CCYEEYKDRK RENAERLMDD 
       160        170        180        190        200
NDSENNQESM PSLSFRQTMW RAFENPHTST LALVFYYVTG FFIAVSVITN 
       210        220        230        240        250
VVETVPCGTV PGSKELPCGE RYSVAFFCLD TACVMIFTVE YLLRLFAAPS 
       260        270        280        290        300
RYRFIRSVMS IIDVVAIMPY YIGLVMTNNE DVSGAFVTLR VFRVFRIFKF 
       310        320        330        340        350
SRHSQGLRIL GYTLKSCASE LGFLLFSLTM AIIIFATVMF YAEKGSSASK 
       360        370        380        390        400
FTSIPASFWY TIVTMTTLGY GDMVPKTIAG KIFGSICSLS GVLVIALPVP 
       410        420        430        440        450
VIVSNFSRIY HQNQRADKRR AQKKARLARI RVAKTGSSNA YLHSKRNGLL 
       460        470        480        490        500
NEALELTGTP EEEHMGKTTS LIESQHHHLL HCLEKTTGLS YLVDDPLLSV 
       510        520        530        540        550
RTSTIKNHEF IDEQMFEQNC MESSMQNYPS TRSPSLSSHP GLTTTCCSRR 
       560        570        580        590        600
SKKTTHLPNS NLPATRLRSM QELSTIHIQG SEQPSLTTSR SSLNLKADDG 
       610        620        630        640        650
LRPNCKTSQI TTAIISIPTP PALTPEGESR PPPASPGPNT NIPSIASNVV 

KVSAL
Length:655
Mass (Da):73,451
Last modified:March 7, 2006 - 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:iADD1402A97204764
GO
Isoform 2 (identifier: Q9UK17-2) [UniParc]FASTAAdd to basket
Also known as: KCND3S, Short

The sequence of this isoform differs from the canonical sequence as follows:
     488-506: Missing.

Show »
Length:636
Mass (Da):71,392
Checksum:i9414269BB8A53D29
GO

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 conflicti239V → G in AAC05121 (PubMed:9843794).Curated1
Sequence conflicti239V → G in AAC05122 (PubMed:9843794).Curated1
Sequence conflicti239V → G in AAD38898 (PubMed:10729221).Curated1
Sequence conflicti375P → L in AAC05121 (PubMed:9843794).Curated1
Sequence conflicti375P → L in AAC05122 (PubMed:9843794).Curated1
Sequence conflicti375P → L in AAD38898 (PubMed:10729221).Curated1
Sequence conflicti408R → G in AAF01044 (PubMed:10200233).Curated1
Sequence conflicti408R → G in AAF01045 (PubMed:10200233).Curated1
Sequence conflicti452E → G in AAF01044 (PubMed:10200233).Curated1
Sequence conflicti452E → G in AAF01045 (PubMed:10200233).Curated1
Sequence conflicti531T → Q in AAF01044 (PubMed:10200233).Curated1
Sequence conflicti531T → Q in AAF01045 (PubMed:10200233).Curated1
Sequence conflicti564A → D in AAF01044 (PubMed:10200233).Curated1
Sequence conflicti564A → D in AAF01045 (PubMed:10200233).Curated1
Sequence conflicti646A → T in AAC05121 (PubMed:9843794).Curated1
Sequence conflicti646A → T in AAC05122 (PubMed:9843794).Curated1
Sequence conflicti646A → T in AAF01045 (PubMed:10200233).Curated1
Sequence conflicti646A → T in AAD38898 (PubMed:10729221).Curated1
Sequence conflicti654A → V in AAC05121 (PubMed:9843794).Curated1
Sequence conflicti654A → V in AAC05122 (PubMed:9843794).Curated1
Sequence conflicti654A → V in AAF01044 (PubMed:10200233).Curated1
Sequence conflicti654A → V in AAD38898 (PubMed:10729221).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03577594V → M in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1349469134Ensembl.1
Natural variantiVAR_070785227Missing in SCA19; results in reduced channel activity consistent with impaired cell surface expression of the mutant protein. 1 Publication1
Natural variantiVAR_070786338V → E in SCA19. 1 Publication1
Natural variantiVAR_070787345G → V in SCA19. 1 PublicationCorresponds to variant dbSNP:rs797045634EnsemblClinVar.1
Natural variantiVAR_070788352T → P in SCA19; loss of channel activity. 1 PublicationCorresponds to variant dbSNP:rs397515476EnsemblClinVar.1
Natural variantiVAR_070789373M → I in SCA19; unknown pathological significance; causes reduced channel activity. 1 PublicationCorresponds to variant dbSNP:rs397515477EnsemblClinVar.1
Natural variantiVAR_070790377T → M in SCA19. 1 Publication1
Natural variantiVAR_079709384G → S in SCA19. 1 Publication1
Natural variantiVAR_070791390S → N in SCA19; unknown pathological significance; results in impaired cell surface expression. 1 PublicationCorresponds to variant dbSNP:rs397515478EnsemblClinVar.1
Natural variantiVAR_067694392V → I in BRGDA9; unknown pathological significance; gain of function mutation. 1 PublicationCorresponds to variant dbSNP:rs786205867EnsemblClinVar.1
Natural variantiVAR_073831450L → F in BRGDA9; unknown pathological significance; gain of function mutation. 1 PublicationCorresponds to variant dbSNP:rs150401343EnsemblClinVar.1
Natural variantiVAR_067695530S → R in BRGDA9; unknown pathological significance; does not affect the electrophysiological properties of the channel. 1 Publication1
Natural variantiVAR_067696600G → R in BRGDA9; unknown pathological significance; gain of function mutation. 2 PublicationsCorresponds to variant dbSNP:rs149344567EnsemblClinVar.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_008826488 – 506Missing in isoform 2. 4 PublicationsAdd BLAST19

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF048712 mRNA Translation: AAC05121.1
AF048713 mRNA Translation: AAC05122.1
AF187963 mRNA Translation: AAF01044.1
AF187964 mRNA Translation: AAF01045.1
AF205856 mRNA Translation: AAF20924.1
AF205857 mRNA Translation: AAF20925.1
AF120491 mRNA Translation: AAD38898.1
AF166011, AF166009, AF166010 Genomic DNA Translation: AAF68177.1
AF166011, AF166009, AF166010 Genomic DNA Translation: AAF68178.1
AL512665 Genomic DNA No translation available.
AL450997 Genomic DNA No translation available.
AL049557 Genomic DNA No translation available.
CH471122 Genomic DNA Translation: EAW56511.1
BC113475 mRNA Translation: AAI13476.1
BC113477 mRNA Translation: AAI13478.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS843.1 [Q9UK17-1]
CCDS844.1 [Q9UK17-2]

NCBI Reference Sequences

More...RefSeqi		NP_004971.2, NM_004980.4 [Q9UK17-1]
NP_751948.1, NM_172198.2 [Q9UK17-2]
XP_005270908.1, XM_005270851.4 [Q9UK17-1]
XP_006710692.1, XM_006710629.3 [Q9UK17-1]
XP_006710693.1, XM_006710630.3 [Q9UK17-2]
XP_016856733.1, XM_017001244.1 [Q9UK17-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.666367
Hs.730579

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000302127; ENSP00000306923; ENSG00000171385 [Q9UK17-2]
ENST00000315987; ENSP00000319591; ENSG00000171385 [Q9UK17-1]
ENST00000369697; ENSP00000358711; ENSG00000171385 [Q9UK17-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3752

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3752

UCSC genome browser

More...UCSCi		uc001ebu.2 human [Q9UK17-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF048712 mRNA Translation: AAC05121.1
AF048713 mRNA Translation: AAC05122.1
AF187963 mRNA Translation: AAF01044.1
AF187964 mRNA Translation: AAF01045.1
AF205856 mRNA Translation: AAF20924.1
AF205857 mRNA Translation: AAF20925.1
AF120491 mRNA Translation: AAD38898.1
AF166011, AF166009, AF166010 Genomic DNA Translation: AAF68177.1
AF166011, AF166009, AF166010 Genomic DNA Translation: AAF68178.1
AL512665 Genomic DNA No translation available.
AL450997 Genomic DNA No translation available.
AL049557 Genomic DNA No translation available.
CH471122 Genomic DNA Translation: EAW56511.1
BC113475 mRNA Translation: AAI13476.1
BC113477 mRNA Translation: AAI13478.1
CCDSiCCDS843.1 [Q9UK17-1]
CCDS844.1 [Q9UK17-2]
RefSeqiNP_004971.2, NM_004980.4 [Q9UK17-1]
NP_751948.1, NM_172198.2 [Q9UK17-2]
XP_005270908.1, XM_005270851.4 [Q9UK17-1]
XP_006710692.1, XM_006710629.3 [Q9UK17-1]
XP_006710693.1, XM_006710630.3 [Q9UK17-2]
XP_016856733.1, XM_017001244.1 [Q9UK17-1]
UniGeneiHs.666367
Hs.730579

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S1GX-ray2.60A/B29-143[»]
2NZ0X-ray3.20B/D6-145[»]
ProteinModelPortaliQ9UK17
SMRiQ9UK17
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109954, 36 interactors
ComplexPortaliCPX-3256 Kv4.3-KChIP1 channel complex
CORUMiQ9UK17
IntActiQ9UK17, 1 interactor
STRINGi9606.ENSP00000319591

Chemistry databases

BindingDBiQ9UK17
ChEMBLiCHEMBL1964
DrugBankiDB00321 Amitriptyline
DB06637 Dalfampridine
DB00280 Disopyramide
DB00458 Imipramine

Protein family/group databases

TCDBi1.A.1.2.19 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiQ9UK17
PhosphoSitePlusiQ9UK17

Polymorphism and mutation databases

BioMutaiKCND3
DMDMi92090984

Proteomic databases

EPDiQ9UK17
PaxDbiQ9UK17
PeptideAtlasiQ9UK17
PRIDEiQ9UK17
ProteomicsDBi84705
84706 [Q9UK17-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		3752
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302127; ENSP00000306923; ENSG00000171385 [Q9UK17-2]
ENST00000315987; ENSP00000319591; ENSG00000171385 [Q9UK17-1]
ENST00000369697; ENSP00000358711; ENSG00000171385 [Q9UK17-2]
GeneIDi3752
KEGGihsa:3752
UCSCiuc001ebu.2 human [Q9UK17-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3752
DisGeNETi3752
EuPathDBiHostDB:ENSG00000171385.9

GeneCards: human genes, protein and diseases

More...GeneCardsi		KCND3
GeneReviewsiKCND3
HGNCiHGNC:6239 KCND3
HPAiHPA029452
MalaCardsiKCND3
MIMi605411 gene
607346 phenotype
616399 phenotype
neXtProtiNX_Q9UK17
OpenTargetsiENSG00000171385
Orphaneti130 Brugada syndrome
98772 Spinocerebellar ataxia type 19/22
PharmGKBiPA210

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4390 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00940000155343
HOVERGENiHBG106687
InParanoidiQ9UK17
KOiK04893
OMAiGTCCTRR
OrthoDBi469107at2759
PhylomeDBiQ9UK17
TreeFamiTF313103

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels
R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels

Miscellaneous databases

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

More...ChiTaRSi		KCND3 human
EvolutionaryTraceiQ9UK17

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KCND3

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

More...GenomeRNAii		3752

Protein Ontology

More...PROi		PR:Q9UK17

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000171385 Expressed in 211 organ(s), highest expression level in cerebellum
CleanExiHS_KCND3
ExpressionAtlasiQ9UK17 baseline and differential
GenevisibleiQ9UK17 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
IPR003975 K_chnl_volt-dep_Kv4
IPR004056 K_chnl_volt-dep_Kv4.3
IPR024587 K_chnl_volt-dep_Kv4_C
IPR021645 Shal-type_N
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB
IPR028325 VG_K_chnl
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR11537 PTHR11537, 4 hits
PfamiView protein in Pfam
PF02214 BTB_2, 1 hit
PF11879 DUF3399, 1 hit
PF00520 Ion_trans, 1 hit
PF11601 Shal-type, 1 hit
PRINTSiPR00169 KCHANNEL
PR01518 KV43CHANNEL
PR01491 KVCHANNEL
PR01497 SHALCHANNEL
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 1 hit

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 nameiKCND3_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: Q9UK17
Secondary accession number(s): O60576
, O60577, Q14D71, Q5T0M0, Q9UH85, Q9UH86, Q9UK16
<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: November 7, 2003
Last sequence update: March 7, 2006
Last modified: January 16, 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

3D-structure, Complete proteome, Reference proteome

Documents

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