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Q9UK17

- KCND3_HUMAN

UniProt

Q9UK17 - KCND3_HUMAN

Protein

Potassium voltage-gated channel subfamily D member 3

Gene

KCND3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 3 (07 Mar 2006)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi104 – 1041Zinc
    Metal bindingi131 – 1311Zinc
    Metal bindingi132 – 1321Zinc

    GO - Molecular functioni

    1. A-type (transient outward) potassium channel activity Source: RefGenome
    2. ion channel binding Source: BHF-UCL
    3. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. membrane repolarization Source: BHF-UCL
    3. potassium ion export Source: BHF-UCL
    4. potassium ion transport Source: ProtInc
    5. protein homooligomerization Source: InterPro
    6. synaptic transmission Source: Reactome

    Keywords - Molecular functioni

    Ion channel, Potassium channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Transport

    Keywords - Ligandi

    Metal-binding, Potassium, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_75770. Voltage gated Potassium channels.

    Protein family/group databases

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Potassium voltage-gated channel subfamily D member 3
    Alternative name(s):
    Voltage-gated potassium channel subunit Kv4.3
    Gene namesi
    Name:KCND3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:6239. KCND3.

    Subcellular locationi

    GO - Cellular componenti

    1. dendrite Source: UniProtKB-SubCell
    2. neuronal cell body Source: Ensembl
    3. perinuclear endoplasmic reticulum Source: Ensembl
    4. plasma membrane Source: Reactome
    5. sarcolemma Source: UniProtKB-SubCell
    6. voltage-gated potassium channel complex Source: BHF-UCL

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Spinocerebellar ataxia 19 (SCA19) [MIM:607346]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti227 – 2271Missing in SCA19; results in reduced channel activity consistent with impaired cell surface expression of the mutant protein. 1 Publication
    VAR_070785
    Natural varianti338 – 3381V → E in SCA19. 1 Publication
    VAR_070786
    Natural varianti345 – 3451G → V in SCA19. 1 Publication
    VAR_070787
    Natural varianti352 – 3521T → P in SCA19; loss of channel activity. 1 Publication
    VAR_070788
    Natural varianti373 – 3731M → I in SCA19; causes reduced channel activity. 1 Publication
    VAR_070789
    Natural varianti377 – 3771T → M in SCA19. 1 Publication
    VAR_070790
    Natural varianti390 – 3901S → N in SCA19; results in impaired cell surface expression. 1 Publication
    VAR_070791
    KCND3 rare variants may confer risk for lethal ventricular arrhytmias and be associated with autopsy-negative sudden unexplained death syndrome (SUDS).

    Keywords - Diseasei

    Disease mutation, Neurodegeneration, Spinocerebellar ataxia

    Organism-specific databases

    MIMi607346. phenotype.
    Orphaneti130. Brugada syndrome.
    98772. Spinocerebellar ataxia type 19/22.
    PharmGKBiPA210.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 655655Potassium voltage-gated channel subfamily D member 3PRO_0000054068Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei569 – 5691Phosphoserine; by CaMK2DBy similarity

    Post-translational modificationi

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

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ9UK17.
    PRIDEiQ9UK17.

    PTM databases

    PhosphoSiteiQ9UK17.

    Expressioni

    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

    ArrayExpressiQ9UK17.
    BgeeiQ9UK17.
    CleanExiHS_KCND3.
    GenevestigatoriQ9UK17.

    Organism-specific databases

    HPAiHPA029452.

    Interactioni

    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

    Protein-protein interaction databases

    BioGridi109954. 33 interactions.
    STRINGi9606.ENSP00000319591.

    Structurei

    Secondary structure

    1
    655
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi9 – 146
    Turni15 – 195
    Beta strandi20 – 234
    Helixi32 – 343
    Beta strandi41 – 466
    Beta strandi49 – 546
    Helixi55 – 584
    Turni65 – 673
    Helixi70 – 734
    Beta strandi74 – 763
    Beta strandi77 – 793
    Beta strandi81 – 844
    Helixi88 – 10013
    Beta strandi101 – 1033
    Helixi111 – 12010
    Helixi125 – 1273
    Helixi130 – 14314

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1S1GX-ray2.60A/B29-143[»]
    2NZ0X-ray3.20B/D6-145[»]
    ProteinModelPortaliQ9UK17.
    SMRiQ9UK17. Positions 6-412.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9UK17.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 181181CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini243 – 25614CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini308 – 32013CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini403 – 655253CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei360 – 38021Pore-forming; Name=Segment H5Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei182 – 20221Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei222 – 24221Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei257 – 27721Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei287 – 30721Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei321 – 34121Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei382 – 40221Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 2019Interaction with KCNIP2By similarityAdd
    BLAST
    Regioni472 – 48716Mediates dendritic targetingBy similarityAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi367 – 3726Selectivity filterBy similarity

    Domaini

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

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1226.
    HOVERGENiHBG106687.
    InParanoidiQ9UK17.
    KOiK04893.
    OMAiPEVFRCI.
    OrthoDBiEOG7SR4MG.
    PhylomeDBiQ9UK17.
    TreeFamiTF313103.

    Family and domain databases

    Gene3Di1.20.120.350. 1 hit.
    3.30.710.10. 1 hit.
    InterProiIPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR003091. K_chnl.
    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.
    IPR003131. T1-type_BTB.
    IPR028325. VG_K_chnl.
    [Graphical view]
    PANTHERiPTHR11537. PTHR11537. 1 hit.
    PfamiPF02214. BTB_2. 1 hit.
    PF11879. DUF3399. 1 hit.
    PF00520. Ion_trans. 1 hit.
    PF11601. Shal-type. 1 hit.
    [Graphical view]
    PRINTSiPR00169. KCHANNEL.
    PR01518. KV43CHANNEL.
    PR01491. KVCHANNEL.
    PR01497. SHALCHANNEL.
    SMARTiSM00225. BTB. 1 hit.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MAAGVAAWLP FARAAAIGWM PVANCPMPLA PADKNKRQDE LIVLNVSGRR    50
    FQTWRTTLER YPDTLLGSTE KEFFFNEDTK EYFFDRDPEV FRCVLNFYRT 100
    GKLHYPRYEC ISAYDDELAF YGILPEIIGD CCYEEYKDRK RENAERLMDD 150
    NDSENNQESM PSLSFRQTMW RAFENPHTST LALVFYYVTG FFIAVSVITN 200
    VVETVPCGTV PGSKELPCGE RYSVAFFCLD TACVMIFTVE YLLRLFAAPS 250
    RYRFIRSVMS IIDVVAIMPY YIGLVMTNNE DVSGAFVTLR VFRVFRIFKF 300
    SRHSQGLRIL GYTLKSCASE LGFLLFSLTM AIIIFATVMF YAEKGSSASK 350
    FTSIPASFWY TIVTMTTLGY GDMVPKTIAG KIFGSICSLS GVLVIALPVP 400
    VIVSNFSRIY HQNQRADKRR AQKKARLARI RVAKTGSSNA YLHSKRNGLL 450
    NEALELTGTP EEEHMGKTTS LIESQHHHLL HCLEKTTGLS YLVDDPLLSV 500
    RTSTIKNHEF IDEQMFEQNC MESSMQNYPS TRSPSLSSHP GLTTTCCSRR 550
    SKKTTHLPNS NLPATRLRSM QELSTIHIQG SEQPSLTTSR SSLNLKADDG 600
    LRPNCKTSQI TTAIISIPTP PALTPEGESR PPPASPGPNT NIPSIASNVV 650
    KVSAL 655
    Length:655
    Mass (Da):73,451
    Last modified:March 7, 2006 - v3
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti239 – 2391V → G in AAC05121. (PubMed:9843794)Curated
    Sequence conflicti239 – 2391V → G in AAC05122. (PubMed:9843794)Curated
    Sequence conflicti239 – 2391V → G in AAD38898. (PubMed:10729221)Curated
    Sequence conflicti375 – 3751P → L in AAC05121. (PubMed:9843794)Curated
    Sequence conflicti375 – 3751P → L in AAC05122. (PubMed:9843794)Curated
    Sequence conflicti375 – 3751P → L in AAD38898. (PubMed:10729221)Curated
    Sequence conflicti408 – 4081R → G in AAF01044. (PubMed:10200233)Curated
    Sequence conflicti408 – 4081R → G in AAF01045. (PubMed:10200233)Curated
    Sequence conflicti452 – 4521E → G in AAF01044. (PubMed:10200233)Curated
    Sequence conflicti452 – 4521E → G in AAF01045. (PubMed:10200233)Curated
    Sequence conflicti531 – 5311T → Q in AAF01044. (PubMed:10200233)Curated
    Sequence conflicti531 – 5311T → Q in AAF01045. (PubMed:10200233)Curated
    Sequence conflicti564 – 5641A → D in AAF01044. (PubMed:10200233)Curated
    Sequence conflicti564 – 5641A → D in AAF01045. (PubMed:10200233)Curated
    Sequence conflicti646 – 6461A → T in AAC05121. (PubMed:9843794)Curated
    Sequence conflicti646 – 6461A → T in AAC05122. (PubMed:9843794)Curated
    Sequence conflicti646 – 6461A → T in AAF01045. (PubMed:10200233)Curated
    Sequence conflicti646 – 6461A → T in AAD38898. (PubMed:10729221)Curated
    Sequence conflicti654 – 6541A → V in AAC05121. (PubMed:9843794)Curated
    Sequence conflicti654 – 6541A → V in AAC05122. (PubMed:9843794)Curated
    Sequence conflicti654 – 6541A → V in AAF01044. (PubMed:10200233)Curated
    Sequence conflicti654 – 6541A → V in AAD38898. (PubMed:10729221)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti94 – 941V → M in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035775
    Natural varianti227 – 2271Missing in SCA19; results in reduced channel activity consistent with impaired cell surface expression of the mutant protein. 1 Publication
    VAR_070785
    Natural varianti338 – 3381V → E in SCA19. 1 Publication
    VAR_070786
    Natural varianti345 – 3451G → V in SCA19. 1 Publication
    VAR_070787
    Natural varianti352 – 3521T → P in SCA19; loss of channel activity. 1 Publication
    VAR_070788
    Natural varianti373 – 3731M → I in SCA19; causes reduced channel activity. 1 Publication
    VAR_070789
    Natural varianti377 – 3771T → M in SCA19. 1 Publication
    VAR_070790
    Natural varianti390 – 3901S → N in SCA19; results in impaired cell surface expression. 1 Publication
    VAR_070791
    Natural varianti392 – 3921V → I Probable disease-associated mutation found in a case of sudden unexplained death syndrome; gain of function. 1 Publication
    VAR_067694
    Natural varianti530 – 5301S → R Rare variant found in a case of sudden infant death; does not affect the electrophysiological properties of the channel. 1 Publication
    VAR_067695
    Natural varianti600 – 6001G → R Probable disease-associated mutation found in a case of sudden unexplained death syndrome; gain of function. 1 Publication
    Corresponds to variant rs149344567 [ dbSNP | Ensembl ].
    VAR_067696

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei488 – 50619Missing in isoform 2. 4 PublicationsVSP_008826Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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, AL049557, AL450997 Genomic DNA. Translation: CAI16956.1.
    AL450997, AL049557, AL512665 Genomic DNA. Translation: CAI19096.1.
    AL049557, AL450997, AL512665 Genomic DNA. Translation: CAI22711.1.
    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_005270851.2. [Q9UK17-1]
    XP_006710692.1. XM_006710629.1. [Q9UK17-1]
    XP_006710693.1. XM_006710630.1. [Q9UK17-2]
    UniGeneiHs.666367.

    Genome annotation databases

    EnsembliENST00000302127; ENSP00000306923; ENSG00000171385. [Q9UK17-2]
    ENST00000315987; ENSP00000319591; ENSG00000171385. [Q9UK17-1]
    ENST00000369697; ENSP00000358711; ENSG00000171385. [Q9UK17-2]
    GeneIDi3752.
    KEGGihsa:3752.
    UCSCiuc001ebu.1. human. [Q9UK17-1]
    uc001ebv.1. human.

    Polymorphism databases

    DMDMi92090984.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

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

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 , AL049557 , AL450997 Genomic DNA. Translation: CAI16956.1 .
    AL450997 , AL049557 , AL512665 Genomic DNA. Translation: CAI19096.1 .
    AL049557 , AL450997 , AL512665 Genomic DNA. Translation: CAI22711.1 .
    CH471122 Genomic DNA. Translation: EAW56511.1 .
    BC113475 mRNA. Translation: AAI13476.1 .
    BC113477 mRNA. Translation: AAI13478.1 .
    CCDSi CCDS843.1. [Q9UK17-1 ]
    CCDS844.1. [Q9UK17-2 ]
    RefSeqi NP_004971.2. NM_004980.4. [Q9UK17-1 ]
    NP_751948.1. NM_172198.2. [Q9UK17-2 ]
    XP_005270908.1. XM_005270851.2. [Q9UK17-1 ]
    XP_006710692.1. XM_006710629.1. [Q9UK17-1 ]
    XP_006710693.1. XM_006710630.1. [Q9UK17-2 ]
    UniGenei Hs.666367.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1S1G X-ray 2.60 A/B 29-143 [» ]
    2NZ0 X-ray 3.20 B/D 6-145 [» ]
    ProteinModelPortali Q9UK17.
    SMRi Q9UK17. Positions 6-412.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109954. 33 interactions.
    STRINGi 9606.ENSP00000319591.

    Chemistry

    BindingDBi Q9UK17.
    ChEMBLi CHEMBL1964.

    Protein family/group databases

    TCDBi 1.A.1.2.19. the voltage-gated ion channel (vic) superfamily.

    PTM databases

    PhosphoSitei Q9UK17.

    Polymorphism databases

    DMDMi 92090984.

    Proteomic databases

    PaxDbi Q9UK17.
    PRIDEi Q9UK17.

    Protocols and materials databases

    DNASUi 3752.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000302127 ; ENSP00000306923 ; ENSG00000171385 . [Q9UK17-2 ]
    ENST00000315987 ; ENSP00000319591 ; ENSG00000171385 . [Q9UK17-1 ]
    ENST00000369697 ; ENSP00000358711 ; ENSG00000171385 . [Q9UK17-2 ]
    GeneIDi 3752.
    KEGGi hsa:3752.
    UCSCi uc001ebu.1. human. [Q9UK17-1 ]
    uc001ebv.1. human.

    Organism-specific databases

    CTDi 3752.
    GeneCardsi GC01M112313.
    HGNCi HGNC:6239. KCND3.
    HPAi HPA029452.
    MIMi 605411. gene.
    607346. phenotype.
    neXtProti NX_Q9UK17.
    Orphaneti 130. Brugada syndrome.
    98772. Spinocerebellar ataxia type 19/22.
    PharmGKBi PA210.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1226.
    HOVERGENi HBG106687.
    InParanoidi Q9UK17.
    KOi K04893.
    OMAi PEVFRCI.
    OrthoDBi EOG7SR4MG.
    PhylomeDBi Q9UK17.
    TreeFami TF313103.

    Enzyme and pathway databases

    Reactomei REACT_75770. Voltage gated Potassium channels.

    Miscellaneous databases

    EvolutionaryTracei Q9UK17.
    GeneWikii KCND3.
    GenomeRNAii 3752.
    NextBioi 14691.
    PROi Q9UK17.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UK17.
    Bgeei Q9UK17.
    CleanExi HS_KCND3.
    Genevestigatori Q9UK17.

    Family and domain databases

    Gene3Di 1.20.120.350. 1 hit.
    3.30.710.10. 1 hit.
    InterProi IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR003091. K_chnl.
    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.
    IPR003131. T1-type_BTB.
    IPR028325. VG_K_chnl.
    [Graphical view ]
    PANTHERi PTHR11537. PTHR11537. 1 hit.
    Pfami PF02214. BTB_2. 1 hit.
    PF11879. DUF3399. 1 hit.
    PF00520. Ion_trans. 1 hit.
    PF11601. Shal-type. 1 hit.
    [Graphical view ]
    PRINTSi PR00169. KCHANNEL.
    PR01518. KV43CHANNEL.
    PR01491. KVCHANNEL.
    PR01497. SHALCHANNEL.
    SMARTi SM00225. BTB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and characterization of the human gene encoding Ito: further diversity by alternative mRNA splicing."
      Kong W., Po S., Yamagishi T., Ashen M.D., Stetten G., Tomaselli G.F.
      Am. J. Physiol. 275:H1963-H1970(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, FUNCTION.
      Tissue: Heart.
    2. "Cloning and expression of the human Kv4.3 potassium channel."
      Dilks D., Ling H.-P., Cockett M., Sokol P., Numann R.
      J. Neurophysiol. 81:1974-1977(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, TISSUE SPECIFICITY.
      Tissue: Brain and Heart.
    3. "Long and short human isoforms of the Kv4.3 channel: cloning, expression, electrophysiology, pharmacology and phosphorylation by protein kinase C."
      Calmels T.P.G., Faivre J.-F., Javre J.-L., Cheval B., Rouanet S., Bril A.
      Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Heart.
    4. "Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(TO) and I(SA)."
      Isbrandt D., Leicher T., Waldschuetz R., Zhu X.-R., Luhmann U., Michel U., Sauter K., Pongs O.
      Genomics 64:144-154(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
      Tissue: Brain cortex.
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Heart and Lung.
    8. "Modulation of Kv4.3 current by accessory subunits."
      Deschenes I., Tomaselli G.F.
      FEBS Lett. 528:183-188(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH KCNIP2; KCNE1; KCNE2; SCN1B AND KCNAB1.
    9. "Kv4 potassium channels form a tripartite complex with the anchoring protein SAP97 and CaMKII in cardiac myocytes."
      El-Haou S., Balse E., Neyroud N., Dilanian G., Gavillet B., Abriel H., Coulombe A., Jeromin A., Hatem S.N.
      Circ. Res. 104:758-769(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DLG1.
    10. "Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death."
      Giudicessi J.R., Ye D., Kritzberger C.J., Nesterenko V.V., Tester D.J., Antzelevitch C., Ackerman M.J.
      Hum. Mutat. 33:989-997(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SUDS, VARIANTS ILE-392; ARG-530 AND ARG-600, CHARACTERIZATION OF VARIANTS ILE-392; ARG-530 AND ARG-600.
    11. Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 29-143, INTERACTION WITH KCNIP1.
    12. "Structural basis for modulation of Kv4 K+ channels by auxiliary KChIP subunits."
      Wang H., Yan Y., Liu Q., Huang Y., Shen Y., Chen L., Chen Y., Yang Q., Hao Q., Wang K., Chai J.
      Nat. Neurosci. 10:32-39(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.2 ANGSTROMS) OF 6-145 IN COMPLEX WITH KCNIP1, SUBUNIT.
    13. Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-94.
    14. Cited for: VARIANTS SCA19 PHE-227 DEL; GLU-338; VAL-345 AND MET-377, CHARACTERIZATION OF VARIANT PHE-227 DEL.
    15. Cited for: VARIANTS SCA19 PRO-352; ILE-373 AND ASN-390, CHARACTERIZATION OF VARIANTS SCA19 PRO-352; ILE-373 AND ASN-390.

    Entry informationi

    Entry nameiKCND3_HUMAN
    AccessioniPrimary (citable) accession number: Q9UK17
    Secondary accession number(s): O60576
    , O60577, Q14D71, Q5T0M0, Q9UH85, Q9UH86, Q9UK16
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 7, 2003
    Last sequence update: March 7, 2006
    Last modified: October 1, 2014
    This is version 134 of the entry and version 3 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3