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Q14003

- KCNC3_HUMAN

UniProt

Q14003 - KCNC3_HUMAN

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
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 3 (04 Nov 2008)
      Previous versions | rss
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    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

    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

    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

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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 290290CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini371 – 3799CytoplasmicSequence Analysis
    Topological domaini435 – 44713CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini540 – 757218CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei291 – 30919Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei351 – 37020Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei380 – 39819Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei412 – 43423Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei448 – 46922Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei518 – 53922Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    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

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti63 – 631D → G in AAC24118. (PubMed:10712820)Curated

    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 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

    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: October 1, 2014
    This is version 135 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