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Q9UK17

- KCND3_HUMAN

UniProt

Q9UK17 - KCND3_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 181181Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei182 – 20221Helical; Name=Segment S1; Reviewed prediction
Add
BLAST
Transmembranei222 – 24221Helical; Name=Segment S2; Reviewed prediction
Add
BLAST
Topological domaini243 – 25614Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei257 – 27721Helical; Name=Segment S3; Reviewed prediction
Add
BLAST
Transmembranei287 – 30721Helical; Voltage-sensor; Name=Segment S4; Reviewed prediction
Add
BLAST
Topological domaini308 – 32013Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei321 – 34121Helical; Name=Segment S5; Reviewed prediction
Add
BLAST
Intramembranei360 – 38021Pore-forming; Name=Segment H5; Reviewed prediction
Add
BLAST
Transmembranei382 – 40221Helical; Name=Segment S6; Reviewed prediction
Add
BLAST
Topological domaini403 – 655253Cytoplasmic Reviewed prediction
Add
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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).1 Publication

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 3
PRO_0000054068Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei569 – 5691Phosphoserine; by CaMK2D By 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 DLG1.4 Publications

Protein-protein interaction databases

BioGridi109954. 33 interactions.
STRINGi9606.ENSP00000319591.

Structurei

Secondary structure

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.

Miscellaneous databases

EvolutionaryTraceiQ9UK17.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni2 – 2019Interaction with KCNIP2 By similarity
Add
BLAST
Regioni472 – 48716Mediates dendritic targeting By similarity
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi367 – 3726Selectivity filter By 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

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.
VSP_008826Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti239 – 2391V → G in AAC05121. 1 Publication
Sequence conflicti239 – 2391V → G in AAC05122. 1 Publication
Sequence conflicti239 – 2391V → G in AAD38898. 1 Publication
Sequence conflicti375 – 3751P → L in AAC05121. 1 Publication
Sequence conflicti375 – 3751P → L in AAC05122. 1 Publication
Sequence conflicti375 – 3751P → L in AAD38898. 1 Publication
Sequence conflicti408 – 4081R → G in AAF01044. 1 Publication
Sequence conflicti408 – 4081R → G in AAF01045. 1 Publication
Sequence conflicti452 – 4521E → G in AAF01044. 1 Publication
Sequence conflicti452 – 4521E → G in AAF01045. 1 Publication
Sequence conflicti531 – 5311T → Q in AAF01044. 1 Publication
Sequence conflicti531 – 5311T → Q in AAF01045. 1 Publication
Sequence conflicti564 – 5641A → D in AAF01044. 1 Publication
Sequence conflicti564 – 5641A → D in AAF01045. 1 Publication
Sequence conflicti646 – 6461A → T in AAC05121. 1 Publication
Sequence conflicti646 – 6461A → T in AAC05122. 1 Publication
Sequence conflicti646 – 6461A → T in AAF01045. 1 Publication
Sequence conflicti646 – 6461A → T in AAD38898. 1 Publication
Sequence conflicti654 – 6541A → V in AAC05121. 1 Publication
Sequence conflicti654 – 6541A → V in AAC05122. 1 Publication
Sequence conflicti654 – 6541A → V in AAF01044. 1 Publication
Sequence conflicti654 – 6541A → V in AAD38898. 1 Publication

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...

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 133 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

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