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Protein

Potassium voltage-gated channel subfamily C member 3

Gene

KCNC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient.5 Publications

GO - Molecular functioni

  • delayed rectifier potassium channel activity Source: GO_Central
  • voltage-gated potassium channel activity Source: UniProtKB

GO - Biological processi

  • potassium ion transmembrane transport Source: UniProtKB
  • protein homooligomerization Source: InterPro
  • protein tetramerization Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

ReactomeiR-HSA-1296072. Voltage gated Potassium channels.

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily C member 3
Alternative name(s):
KSHIIID
Voltage-gated potassium channel subunit Kv3.3
Gene namesi
Name:KCNC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:6235. KCNC3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 290290CytoplasmicSequence analysisAdd
BLAST
Transmembranei291 – 30919Helical; Name=Segment S1Sequence analysisAdd
BLAST
Transmembranei351 – 37020Helical; Name=Segment S2Sequence analysisAdd
BLAST
Topological domaini371 – 3799CytoplasmicSequence analysis
Transmembranei380 – 39819Helical; Name=Segment S3Sequence analysisAdd
BLAST
Transmembranei412 – 43423Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd
BLAST
Topological domaini435 – 44713CytoplasmicSequence analysisAdd
BLAST
Transmembranei448 – 46922Helical; Name=Segment S5Sequence analysisAdd
BLAST
Transmembranei518 – 53922Helical; Name=Segment S6Sequence analysisAdd
BLAST
Topological domaini540 – 757218CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • plasma membrane Source: UniProtKB
  • voltage-gated potassium channel complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 13 (SCA13)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients.
See also OMIM:605259
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti129 – 1291D → N in SCA13; unknown pathological significance; changes channel activity; shifts the voltage dependence of activation. 1 Publication
VAR_074194
Natural varianti366 – 3661R → H in SCA13; unknown pathological significance; dominant negative that decreases channel activity; decreases protein abundance; decreases protein stability; decreases localization to the plasma membrane; no effect on tetramerization. 2 Publications
Corresponds to variant rs769502387 [ dbSNP | Ensembl ].
VAR_074196
Natural varianti420 – 4201R → H in SCA13; dominant negative that induces loss of channel activity; decreases protein abundance; decreases protein stability; decreases localization to the plasma membrane and alters the localization of the wild-type protein; impairs N-glycosylation; no effect on tetramerization. 5 Publications
Corresponds to variant rs104894699 [ dbSNP | Ensembl ].
VAR_029530
Natural varianti423 – 4231R → H in SCA13; dominant negative that reduces channel activity; decreases protein abundance; decreases localization to the plasma membrane; no effect on tetramerization. 4 Publications
VAR_074197
Natural varianti448 – 4481F → L in SCA13; slow channel closing; decreases protein abundance; no effect on localization to the plasma membrane; no effect on N-glycosylation; no effect on tetramerization. 3 Publications
Corresponds to variant rs104894700 [ dbSNP | Ensembl ].
VAR_029531
Natural varianti477 – 4771D → N in SCA13; unknown pathological significance; no effect on channel activity. 1 Publication
Corresponds to variant rs148033381 [ dbSNP | Ensembl ].
VAR_074198
Natural varianti535 – 5351V → M in SCA13; changes channel activity; shifts the voltage dependence of activation. 1 Publication
VAR_074199
Natural varianti591 – 5911S → G in SCA13; unknown pathological significance; reduces channel activity; shifts the voltage dependence of activation. 1 Publication
Corresponds to variant rs549394447 [ dbSNP | Ensembl ].
VAR_074200
Natural varianti643 – 6431G → S in SCA13; unknown pathological significance; no effect on channel activity. 1 Publication
Corresponds to variant rs778523009 [ dbSNP | Ensembl ].
VAR_074201
Natural varianti645 – 6451P → R in SCA13; unknown pathological significance; no effect on channel activity. 1 Publication
VAR_074202
Natural varianti746 – 7461D → N in SCA13; unknown pathological significance; no effect on channel activity. 1 Publication
VAR_074203

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi366 – 3661R → K or A: Decreases protein abundance. 1 Publication
Mutagenesisi420 – 4201R → K or A: Decreases protein abundance. 1 Publication
Mutagenesisi423 – 4231R → K or A: Decreases protein abundance. 1 Publication

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

MalaCardsiKCNC3.
MIMi605259. phenotype.
Orphaneti98768. Spinocerebellar ataxia type 13.
PharmGKBiPA30027.

Chemistry

ChEMBLiCHEMBL2362996.
DrugBankiDB06637. Dalfampridine.

Polymorphism and mutation databases

BioMutaiKCNC3.
DMDMi212276500.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 757757Potassium voltage-gated channel subfamily C member 3PRO_0000054055Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi320 – 3201N-linked (GlcNAc...)Sequence analysis
Glycosylationi336 – 3361N-linked (GlcNAc...)Sequence analysis
Glycosylationi483 – 4831N-linked (GlcNAc...)Sequence analysis
Modified residuei686 – 6861PhosphoserineBy similarity
Modified residuei691 – 6911PhosphoserineBy similarity

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ14003.
PeptideAtlasiQ14003.
PRIDEiQ14003.

PTM databases

iPTMnetiQ14003.
PhosphoSiteiQ14003.

Expressioni

Gene expression databases

BgeeiQ14003.
CleanExiHS_KCNC3.
ExpressionAtlasiQ14003. baseline and differential.
GenevisibleiQ14003. HS.

Organism-specific databases

HPAiHPA018041.

Interactioni

Subunit structurei

Homotetramer or heterotetramer. Heterotetramer with KCNC1.1 Publication

Protein-protein interaction databases

BioGridi109950. 1 interaction.
STRINGi9606.ENSP00000434241.

Structurei

3D structure databases

ProteinModelPortaliQ14003.
SMRiQ14003. Positions 89-193, 272-546.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi503 – 5086Selectivity filterBy similarity

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi31 – 388Poly-Pro
Compositional biasi39 – 424Poly-Gln
Compositional biasi81 – 855Poly-Gly
Compositional biasi229 – 2346Poly-Gly
Compositional biasi577 – 58711Poly-ProAdd
BLAST
Compositional biasi596 – 5994Poly-Pro
Compositional biasi668 – 6736Poly-Ala

Domaini

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3713. Eukaryota.
COG1226. LUCA.
GeneTreeiENSGT00760000118846.
HOGENOMiHOG000231012.
HOVERGENiHBG105862.
InParanoidiQ14003.
KOiK04889.
OMAiGTWWRRW.
PhylomeDBiQ14003.
TreeFamiTF352511.

Family and domain databases

Gene3Di1.20.120.350. 1 hit.
InterProiIPR000210. BTB/POZ_dom.
IPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR003968. K_chnl_volt-dep_Kv.
IPR003974. K_chnl_volt-dep_Kv3.
IPR005404. K_chnl_volt-dep_Kv3.3.
IPR021105. K_chnl_volt-dep_Kv3_ID.
IPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERiPTHR11537. PTHR11537. 3 hits.
PfamiPF02214. BTB_2. 1 hit.
PF00520. Ion_trans. 1 hit.
PF11404. Potassium_chann. 1 hit.
[Graphical view]
PRINTSiPR00169. KCHANNEL.
PR01582. KV33CHANNEL.
PR01491. KVCHANNEL.
PR01498. SHAWCHANNEL.
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.

Sequencei

Sequence statusi: Complete.

Q14003-1 [UniParc]FASTAAdd to basket

« Hide

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

AAAWISP
Length:757
Mass (Da):80,578
Last modified:November 4, 2008 - v3
Checksum:iB44306B850DFD797
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411Q → H Rare polymorphism. 1 Publication
Corresponds to variant rs185017345 [ dbSNP | Ensembl ].
VAR_074192
Natural varianti63 – 631D → G Rare polymorphism. 2 Publications
Corresponds to variant rs375912738 [ dbSNP | Ensembl ].
VAR_074193
Natural varianti129 – 1291D → N in SCA13; unknown pathological significance; changes channel activity; shifts the voltage dependence of activation. 1 Publication
VAR_074194
Natural varianti263 – 2631G → D Rare polymorphism; changes channel activity; activates more quickly and deactivates more slowly. 1 Publication
VAR_074195
Natural varianti366 – 3661R → H in SCA13; unknown pathological significance; dominant negative that decreases channel activity; decreases protein abundance; decreases protein stability; decreases localization to the plasma membrane; no effect on tetramerization. 2 Publications
Corresponds to variant rs769502387 [ dbSNP | Ensembl ].
VAR_074196
Natural varianti420 – 4201R → H in SCA13; dominant negative that induces loss of channel activity; decreases protein abundance; decreases protein stability; decreases localization to the plasma membrane and alters the localization of the wild-type protein; impairs N-glycosylation; no effect on tetramerization. 5 Publications
Corresponds to variant rs104894699 [ dbSNP | Ensembl ].
VAR_029530
Natural varianti423 – 4231R → H in SCA13; dominant negative that reduces channel activity; decreases protein abundance; decreases localization to the plasma membrane; no effect on tetramerization. 4 Publications
VAR_074197
Natural varianti448 – 4481F → L in SCA13; slow channel closing; decreases protein abundance; no effect on localization to the plasma membrane; no effect on N-glycosylation; no effect on tetramerization. 3 Publications
Corresponds to variant rs104894700 [ dbSNP | Ensembl ].
VAR_029531
Natural varianti477 – 4771D → N in SCA13; unknown pathological significance; no effect on channel activity. 1 Publication
Corresponds to variant rs148033381 [ dbSNP | Ensembl ].
VAR_074198
Natural varianti535 – 5351V → M in SCA13; changes channel activity; shifts the voltage dependence of activation. 1 Publication
VAR_074199
Natural varianti591 – 5911S → G in SCA13; unknown pathological significance; reduces channel activity; shifts the voltage dependence of activation. 1 Publication
Corresponds to variant rs549394447 [ dbSNP | Ensembl ].
VAR_074200
Natural varianti643 – 6431G → S in SCA13; unknown pathological significance; no effect on channel activity. 1 Publication
Corresponds to variant rs778523009 [ dbSNP | Ensembl ].
VAR_074201
Natural varianti645 – 6451P → R in SCA13; unknown pathological significance; no effect on channel activity. 1 Publication
VAR_074202
Natural varianti746 – 7461D → N in SCA13; unknown pathological significance; no effect on channel activity. 1 Publication
VAR_074203

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF055989 mRNA. Translation: AAC24118.1.
AC008655 Genomic DNA. No translation available.
Z11585 Genomic DNA. Translation: CAA77671.1.
CCDSiCCDS12793.1.
PIRiS19552.
RefSeqiNP_004968.2. NM_004977.2.
XP_006723266.1. XM_006723203.2.
XP_011525228.1. XM_011526926.1.
UniGeneiHs.467146.

Genome annotation databases

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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF055989 mRNA. Translation: AAC24118.1.
AC008655 Genomic DNA. No translation available.
Z11585 Genomic DNA. Translation: CAA77671.1.
CCDSiCCDS12793.1.
PIRiS19552.
RefSeqiNP_004968.2. NM_004977.2.
XP_006723266.1. XM_006723203.2.
XP_011525228.1. XM_011526926.1.
UniGeneiHs.467146.

3D structure databases

ProteinModelPortaliQ14003.
SMRiQ14003. Positions 89-193, 272-546.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109950. 1 interaction.
STRINGi9606.ENSP00000434241.

Chemistry

ChEMBLiCHEMBL2362996.
DrugBankiDB06637. Dalfampridine.

Protein family/group databases

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

PTM databases

iPTMnetiQ14003.
PhosphoSiteiQ14003.

Polymorphism and mutation databases

BioMutaiKCNC3.
DMDMi212276500.

Proteomic databases

PaxDbiQ14003.
PeptideAtlasiQ14003.
PRIDEiQ14003.

Protocols and materials databases

DNASUi3748.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi3748.
GeneCardsiKCNC3.
GeneReviewsiKCNC3.
H-InvDBHIX0202872.
HGNCiHGNC:6235. KCNC3.
HPAiHPA018041.
MalaCardsiKCNC3.
MIMi176264. gene.
605259. phenotype.
neXtProtiNX_Q14003.
Orphaneti98768. Spinocerebellar ataxia type 13.
PharmGKBiPA30027.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3713. Eukaryota.
COG1226. LUCA.
GeneTreeiENSGT00760000118846.
HOGENOMiHOG000231012.
HOVERGENiHBG105862.
InParanoidiQ14003.
KOiK04889.
OMAiGTWWRRW.
PhylomeDBiQ14003.
TreeFamiTF352511.

Enzyme and pathway databases

ReactomeiR-HSA-1296072. Voltage gated Potassium channels.

Miscellaneous databases

ChiTaRSiKCNC3. human.
GeneWikiiKCNC3.
GenomeRNAii3748.
PROiQ14003.
SOURCEiSearch...

Gene expression databases

BgeeiQ14003.
CleanExiHS_KCNC3.
ExpressionAtlasiQ14003. baseline and differential.
GenevisibleiQ14003. HS.

Family and domain databases

Gene3Di1.20.120.350. 1 hit.
InterProiIPR000210. BTB/POZ_dom.
IPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR003968. K_chnl_volt-dep_Kv.
IPR003974. K_chnl_volt-dep_Kv3.
IPR005404. K_chnl_volt-dep_Kv3.3.
IPR021105. K_chnl_volt-dep_Kv3_ID.
IPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERiPTHR11537. PTHR11537. 3 hits.
PfamiPF02214. BTB_2. 1 hit.
PF00520. Ion_trans. 1 hit.
PF11404. Potassium_chann. 1 hit.
[Graphical view]
PRINTSiPR00169. KCHANNEL.
PR01582. KV33CHANNEL.
PR01491. KVCHANNEL.
PR01498. SHAWCHANNEL.
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Kv3.3 potassium channels in lens epithelium and corneal endothelium."
    Rae J.L., Shepard A.R.
    Exp. Eye Res. 70:339-348(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLY-63.
    Tissue: Lens epithelium.
  2. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "A human chromosome 19 Shaw type potassium channel gene."
    Lee J.E., Garbutt J.H., Phillips K.L., Roses A.D.
    Submitted (JAN-1992) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 291-651.
  4. "Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface."
    Zhao J., Zhu J., Thornhill W.B.
    Biochem. J. 454:259-265(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS SCA13 HIS-366; HIS-420; HIS-423 AND LEU-448, FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, INTERACTION WITH KCNC1, MUTAGENESIS OF ARG-366; ARG-420 AND ARG-423.
  5. "KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking."
    Gallego-Iradi C., Bickford J.S., Khare S., Hall A., Nick J.A., Salmasinia D., Wawrowsky K., Bannykh S., Huynh D.P., Rincon-Limas D.E., Pulst S.M., Nick H.S., Fernandez-Funez P., Waters M.F.
    Neurobiol. Dis. 71:270-279(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS SCA13 HIS-420 AND LEU-448, SUBCELLULAR LOCATION, GLYCOSYLATION.
  6. "Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes."
    Waters M.F., Minassian N.A., Stevanin G., Figueroa K.P., Bannister J.P.A., Nolte D., Mock A.F., Evidente V.G.H., Fee D.B., Mueller U., Duerr A., Brice A., Papazian D.M., Pulst S.M.
    Nat. Genet. 38:447-451(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SCA13 HIS-420 AND LEU-448, CHARACTERIZATION OF VARIANTS SCA13 HIS-420 AND LEU-448, FUNCTION.
  7. "KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients."
    Figueroa K.P., Minassian N.A., Stevanin G., Waters M., Garibyan V., Forlani S., Strzelczyk A., Buerk K., Brice A., Duerr A., Papazian D.M., Pulst S.M.
    Hum. Mutat. 31:191-196(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SCA13 HIS-366; HIS-420 AND HIS-423, CHARACTERIZATION OF VARIANTS SCA13 HIS-366 AND HIS-423, FUNCTION.
  8. "Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)."
    Figueroa K.P., Waters M.F., Garibyan V., Bird T.D., Gomez C.M., Ranum L.P., Minassian N.A., Papazian D.M., Pulst S.M.
    PLoS ONE 6:E17811-E17811(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SCA13 HIS-423, VARIANT ASP-263, CHARACTERIZATION OF VARIANT ASP-263, FUNCTION.
  9. Cited for: VARIANTS SCA13 ASN-129; HIS-420; HIS-423; ASN-477; MET-535; GLY-591; SER-643; ARG-645 AND ASN-746, VARIANTS HIS-41 AND GLY-63, CHARACTERIZATION OF VARIANTS SCA13 ASN-129; HIS-420; HIS-423; ASN-477; MET-535; GLY-591; SER-643; ARG-645 AND ASN-746, FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiKCNC3_HUMAN
AccessioniPrimary (citable) accession number: Q14003
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 4, 2008
Last modified: July 6, 2016
This is version 150 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.