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Q14003

- KCNC3_HUMAN

UniProt

Q14003 - KCNC3_HUMAN

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Protein
Potassium voltage-gated channel subfamily C member 3
Gene
KCNC3
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. delayed rectifier potassium channel activity Source: RefGenome
  2. voltage-gated potassium channel activity Source: ProtInc

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. potassium ion transport Source: ProtInc
  3. protein homooligomerization Source: InterPro
  4. regulation of neurotransmitter secretion Source: Ensembl
  5. 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

Potassium

Enzyme and pathway databases

ReactomeiREACT_75770. 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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:6235. KCNC3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 290290Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei291 – 30919Helical; Name=Segment S1; Reviewed prediction
Add
BLAST
Transmembranei351 – 37020Helical; Name=Segment S2; Reviewed prediction
Add
BLAST
Topological domaini371 – 3799Cytoplasmic Reviewed prediction
Transmembranei380 – 39819Helical; Name=Segment S3; Reviewed prediction
Add
BLAST
Transmembranei412 – 43423Helical; Voltage-sensor; Name=Segment S4; Reviewed prediction
Add
BLAST
Topological domaini435 – 44713Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei448 – 46922Helical; Name=Segment S5; Reviewed prediction
Add
BLAST
Transmembranei518 – 53922Helical; Name=Segment S6; Reviewed prediction
Add
BLAST
Topological domaini540 – 757218Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. axolemma Source: Ensembl
  2. axon terminus Source: Ensembl
  3. dendrite membrane Source: Ensembl
  4. neuromuscular junction Source: Ensembl
  5. neuronal cell body membrane Source: Ensembl
  6. plasma membrane Source: Reactome
  7. voltage-gated potassium channel complex Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 13 (SCA13) [MIM:605259]: Spinocerebellar 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti420 – 4201R → H in SCA13; loss of channel activity. 1 Publication
VAR_029530
Natural varianti448 – 4481F → L in SCA13; slow channel closing. 1 Publication
VAR_029531

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi320 – 3201N-linked (GlcNAc...) Reviewed prediction
Glycosylationi336 – 3361N-linked (GlcNAc...) Reviewed prediction
Glycosylationi483 – 4831N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ14003.
PRIDEiQ14003.

PTM databases

PhosphoSiteiQ14003.

Expressioni

Gene expression databases

ArrayExpressiQ14003.
BgeeiQ14003.
CleanExiHS_KCNC3.
GenevestigatoriQ14003.

Organism-specific databases

HPAiHPA018041.

Interactioni

Subunit structurei

Heterotetramer of potassium channel proteins By similarity.

Protein-protein interaction databases

BioGridi109950. 2 interactions.
STRINGi9606.ENSP00000303282.

Structurei

3D structure databases

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

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi503 – 5086Selectivity filter By 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-Pro
Add
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

eggNOGiNOG280627.
HOGENOMiHOG000231012.
HOVERGENiHBG105862.
InParanoidiQ14003.
KOiK04889.
OMAiGFWGIDE.
PhylomeDBiQ14003.
TreeFamiTF352511.

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.
IPR003974. K_chnl_volt-dep_Kv3.
IPR005404. K_chnl_volt-dep_Kv3.3.
IPR021105. K_chnl_volt-dep_Kv3_ID.
IPR003131. T1-type_BTB.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERiPTHR11537. PTHR11537. 1 hit.
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

MLSSVCVSSF RGRQGASKQQ PAPPPQPPES PPPPPLPPQQ QQPAQPGPAA    50
SPAGPPAPRG PGDRRAEPCP GLPAAAMGRH GGGGGDSGKI VINVGGVRHE 100
TYRSTLRTLP GTRLAGLTEP EAAARFDYDP GADEFFFDRH PGVFAYVLNY 150
YRTGKLHCPA DVCGPLFEEE LGFWGIDETD VEACCWMTYR QHRDAEEALD 200
SFEAPDPAGA ANAANAAGAH DGGLDDEAGA GGGGLDGAGG ELKRLCFQDA 250
GGGAGGPPGG AGGAGGTWWR RWQPRVWALF EDPYSSRAAR YVAFASLFFI 300
LISITTFCLE THEGFIHISN KTVTQASPIP GAPPENITNV EVETEPFLTY 350
VEGVCVVWFT FEFLMRITFC PDKVEFLKSS LNIIDCVAIL PFYLEVGLSG 400
LSSKAAKDVL GFLRVVRFVR ILRIFKLTRH FVGLRVLGHT LRASTNEFLL 450
LIIFLALGVL IFATMIYYAE RIGADPDDIL GSNHTYFKNI PIGFWWAVVT 500
MTTLGYGDMY PKTWSGMLVG ALCALAGVLT IAMPVPVIVN NFGMYYSLAM 550
AKQKLPKKKN KHIPRPPQPG SPNYCKPDPP PPPPPHPHHG SGGISPPPPI 600
TPPSMGVTVA GAYPAGPHTH PGLLRGGAGG LGIMGLPPLP APGEPCPLAQ 650
EEVIEINRAD PRPNGDPAAA ALAHEDCPAI DQPAMSPEDK SPITPGSRGR 700
YSRDRACFLL TDYAPSPDGS IRKATGAPPL PPQDWRKPGP PSFLPDLNAN 750
AAAWISP 757
Length:757
Mass (Da):80,578
Last modified:November 4, 2008 - v3
Checksum:iB44306B850DFD797
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti420 – 4201R → H in SCA13; loss of channel activity. 1 Publication
VAR_029530
Natural varianti448 – 4481F → L in SCA13; slow channel closing. 1 Publication
VAR_029531

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti63 – 631D → G in AAC24118. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006723203.1.
UniGeneiHs.467146.

Genome annotation databases

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

Polymorphism databases

DMDMi212276500.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF055989 mRNA. Translation: AAC24118.1 .
AC008655 Genomic DNA. No translation available.
Z11585 Genomic DNA. Translation: CAA77671.1 .
CCDSi CCDS12793.1.
PIRi S19552.
RefSeqi NP_004968.2. NM_004977.2.
XP_006723266.1. XM_006723203.1.
UniGenei Hs.467146.

3D structure databases

ProteinModelPortali Q14003.
SMRi Q14003. Positions 89-193, 272-546.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109950. 2 interactions.
STRINGi 9606.ENSP00000303282.

Chemistry

ChEMBLi CHEMBL2362996.
GuidetoPHARMACOLOGYi 550.

Protein family/group databases

TCDBi 1.A.1.2.13. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSitei Q14003.

Polymorphism databases

DMDMi 212276500.

Proteomic databases

PaxDbi Q14003.
PRIDEi Q14003.

Protocols and materials databases

DNASUi 3748.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000477616 ; ENSP00000434241 ; ENSG00000131398 .
GeneIDi 3748.
KEGGi hsa:3748.
UCSCi uc002pru.1. human.

Organism-specific databases

CTDi 3748.
GeneCardsi GC19M050815.
GeneReviewsi KCNC3.
H-InvDB HIX0202872.
HGNCi HGNC:6235. KCNC3.
HPAi HPA018041.
MIMi 176264. gene.
605259. phenotype.
neXtProti NX_Q14003.
Orphaneti 98768. Spinocerebellar ataxia type 13.
PharmGKBi PA30027.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG280627.
HOGENOMi HOG000231012.
HOVERGENi HBG105862.
InParanoidi Q14003.
KOi K04889.
OMAi GFWGIDE.
PhylomeDBi Q14003.
TreeFami TF352511.

Enzyme and pathway databases

Reactomei REACT_75770. Voltage gated Potassium channels.

Miscellaneous databases

ChiTaRSi KCNC3. human.
GeneWikii KCNC3.
GenomeRNAii 3748.
NextBioi 14671.
PROi Q14003.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14003.
Bgeei Q14003.
CleanExi HS_KCNC3.
Genevestigatori Q14003.

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.
IPR003974. K_chnl_volt-dep_Kv3.
IPR005404. K_chnl_volt-dep_Kv3.3.
IPR021105. K_chnl_volt-dep_Kv3_ID.
IPR003131. T1-type_BTB.
IPR028325. VG_K_chnl.
[Graphical view ]
PANTHERi PTHR11537. PTHR11537. 1 hit.
Pfami PF02214. BTB_2. 1 hit.
PF00520. Ion_trans. 1 hit.
PF11404. Potassium_chann. 1 hit.
[Graphical view ]
PRINTSi PR00169. KCHANNEL.
PR01582. KV33CHANNEL.
PR01491. KVCHANNEL.
PR01498. SHAWCHANNEL.
SMARTi SM00225. BTB. 1 hit.
[Graphical view ]
SUPFAMi SSF54695. SSF54695. 1 hit.
ProtoNeti Search...

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].
    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. "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.

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: September 3, 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

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

External Data

Dasty 3

Similar proteinsi