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Q14003 (KCNC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Potassium voltage-gated channel subfamily C member 3
Alternative name(s):
KSHIIID
Voltage-gated potassium channel subunit Kv3.3
Gene names
Name:KCNC3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length757 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Heterotetramer of potassium channel proteins By similarity.

Subcellular location

Membrane; Multi-pass membrane protein.

Domain

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.

Involvement in disease

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. Ref.4

Sequence similarities

Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.3/KCNC3 sub-subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Potassium transport
Transport
   Cellular componentMembrane
   DiseaseDisease mutation
Neurodegeneration
Spinocerebellar ataxia
   DomainTransmembrane
Transmembrane helix
   LigandPotassium
   Molecular functionIon channel
Potassium channel
Voltage-gated channel
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell death

Inferred from electronic annotation. Source: UniProtKB-KW

potassium ion transport

Traceable author statement PubMed 1740329. Source: ProtInc

protein homooligomerization

Inferred from electronic annotation. Source: InterPro

regulation of neurotransmitter secretion

Inferred from electronic annotation. Source: Ensembl

synaptic transmission

Traceable author statement. Source: Reactome

   Cellular_componentaxolemma

Inferred from electronic annotation. Source: Ensembl

axon terminus

Inferred from electronic annotation. Source: Ensembl

dendrite membrane

Inferred from electronic annotation. Source: Ensembl

neuromuscular junction

Inferred from electronic annotation. Source: Ensembl

neuronal cell body membrane

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement. Source: Reactome

voltage-gated potassium channel complex

Traceable author statement PubMed 1740329. Source: ProtInc

   Molecular_functiondelayed rectifier potassium channel activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

voltage-gated potassium channel activity

Traceable author statement PubMed 1740329. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 757757Potassium voltage-gated channel subfamily C member 3
PRO_0000054055

Regions

Topological domain1 – 290290Cytoplasmic Potential
Transmembrane291 – 30919Helical; Name=Segment S1; Potential
Transmembrane351 – 37020Helical; Name=Segment S2; Potential
Topological domain371 – 3799Cytoplasmic Potential
Transmembrane380 – 39819Helical; Name=Segment S3; Potential
Transmembrane412 – 43423Helical; Voltage-sensor; Name=Segment S4; Potential
Topological domain435 – 44713Cytoplasmic Potential
Transmembrane448 – 46922Helical; Name=Segment S5; Potential
Transmembrane518 – 53922Helical; Name=Segment S6; Potential
Topological domain540 – 757218Cytoplasmic Potential
Motif503 – 5086Selectivity filter By similarity
Compositional bias31 – 388Poly-Pro
Compositional bias39 – 424Poly-Gln
Compositional bias81 – 855Poly-Gly
Compositional bias229 – 2346Poly-Gly
Compositional bias577 – 58711Poly-Pro
Compositional bias596 – 5994Poly-Pro
Compositional bias668 – 6736Poly-Ala

Amino acid modifications

Glycosylation3201N-linked (GlcNAc...) Potential
Glycosylation3361N-linked (GlcNAc...) Potential
Glycosylation4831N-linked (GlcNAc...) Potential

Natural variations

Natural variant4201R → H in SCA13; loss of channel activity. Ref.4
VAR_029530
Natural variant4481F → L in SCA13; slow channel closing. Ref.4
VAR_029531

Experimental info

Sequence conflict631D → G in AAC24118. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q14003 [UniParc].

Last modified November 4, 2008. Version 3.
Checksum: B44306B850DFD797

FASTA75780,578
        10         20         30         40         50         60 
MLSSVCVSSF RGRQGASKQQ PAPPPQPPES PPPPPLPPQQ QQPAQPGPAA SPAGPPAPRG 

        70         80         90        100        110        120 
PGDRRAEPCP GLPAAAMGRH GGGGGDSGKI VINVGGVRHE TYRSTLRTLP GTRLAGLTEP 

       130        140        150        160        170        180 
EAAARFDYDP GADEFFFDRH PGVFAYVLNY YRTGKLHCPA DVCGPLFEEE LGFWGIDETD 

       190        200        210        220        230        240 
VEACCWMTYR QHRDAEEALD SFEAPDPAGA ANAANAAGAH DGGLDDEAGA GGGGLDGAGG 

       250        260        270        280        290        300 
ELKRLCFQDA GGGAGGPPGG AGGAGGTWWR RWQPRVWALF EDPYSSRAAR YVAFASLFFI 

       310        320        330        340        350        360 
LISITTFCLE THEGFIHISN KTVTQASPIP GAPPENITNV EVETEPFLTY VEGVCVVWFT 

       370        380        390        400        410        420 
FEFLMRITFC PDKVEFLKSS LNIIDCVAIL PFYLEVGLSG LSSKAAKDVL GFLRVVRFVR 

       430        440        450        460        470        480 
ILRIFKLTRH FVGLRVLGHT LRASTNEFLL LIIFLALGVL IFATMIYYAE RIGADPDDIL 

       490        500        510        520        530        540 
GSNHTYFKNI PIGFWWAVVT MTTLGYGDMY PKTWSGMLVG ALCALAGVLT IAMPVPVIVN 

       550        560        570        580        590        600 
NFGMYYSLAM AKQKLPKKKN KHIPRPPQPG SPNYCKPDPP PPPPPHPHHG SGGISPPPPI 

       610        620        630        640        650        660 
TPPSMGVTVA GAYPAGPHTH PGLLRGGAGG LGIMGLPPLP APGEPCPLAQ EEVIEINRAD 

       670        680        690        700        710        720 
PRPNGDPAAA ALAHEDCPAI DQPAMSPEDK SPITPGSRGR YSRDRACFLL TDYAPSPDGS 

       730        740        750 
IRKATGAPPL PPQDWRKPGP PSFLPDLNAN AAAWISP 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF055989 mRNA. Translation: AAC24118.1.
AC008655 Genomic DNA. No translation available.
Z11585 Genomic DNA. Translation: CAA77671.1.
PIRS19552.
RefSeqNP_004968.2. NM_004977.2.
UniGeneHs.467146.

3D structure databases

ProteinModelPortalQ14003.
SMRQ14003. Positions 1-48, 87-547.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109950. 2 interactions.
STRING9606.ENSP00000303282.

Chemistry

ChEMBLCHEMBL2362996.
GuidetoPHARMACOLOGY550.

Protein family/group databases

TCDB1.A.1.2.13. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSiteQ14003.

Polymorphism databases

DMDM212276500.

Proteomic databases

PaxDbQ14003.
PRIDEQ14003.

Protocols and materials databases

DNASU3748.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000477616; ENSP00000434241; ENSG00000131398.
GeneID3748.
KEGGhsa:3748.
UCSCuc002pru.1. human.

Organism-specific databases

CTD3748.
GeneCardsGC19M050815.
H-InvDBHIX0202872.
HGNCHGNC:6235. KCNC3.
HPAHPA018041.
MIM176264. gene.
605259. phenotype.
neXtProtNX_Q14003.
Orphanet98768. Spinocerebellar ataxia type 13.
PharmGKBPA30027.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG280627.
HOGENOMHOG000231012.
HOVERGENHBG105862.
InParanoidQ14003.
KOK04889.
OMAGFWGIDE.
PhylomeDBQ14003.
TreeFamTF352511.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

ArrayExpressQ14003.
BgeeQ14003.
CleanExHS_KCNC3.
GenevestigatorQ14003.

Family and domain databases

Gene3D1.20.120.350. 1 hit.
3.30.710.10. 1 hit.
InterProIPR000210. 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]
PANTHERPTHR11537. PTHR11537. 1 hit.
PfamPF02214. BTB_2. 1 hit.
PF00520. Ion_trans. 1 hit.
PF11404. Potassium_chann. 1 hit.
[Graphical view]
PRINTSPR00169. KCHANNEL.
PR01582. KV33CHANNEL.
PR01491. KVCHANNEL.
PR01498. SHAWCHANNEL.
SMARTSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
ProtoNetSearch...

Other

ChiTaRSKCNC3. human.
GeneWikiKCNC3.
GenomeRNAi3748.
NextBio14671.
PROQ14003.
SOURCESearch...

Entry information

Entry nameKCNC3_HUMAN
AccessionPrimary (citable) accession number: Q14003
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 4, 2008
Last modified: April 16, 2014
This is version 130 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM