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Q09470

- KCNA1_HUMAN

UniProt

Q09470 - KCNA1_HUMAN

Protein

Potassium voltage-gated channel subfamily A member 1

Gene

KCNA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 153 (01 Oct 2014)
      Sequence version 2 (10 Feb 2009)
      Previous versions | rss
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    Functioni

    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. potassium channel activity Source: ProtInc
    3. potassium ion transmembrane transporter activity Source: ProtInc
    4. protein binding Source: IntAct

    GO - Biological processi

    1. potassium ion transport Source: ProtInc
    2. protein homooligomerization Source: InterPro
    3. 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.1.2.12. the voltage-gated ion channel (vic) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Potassium voltage-gated channel subfamily A member 1
    Alternative name(s):
    Voltage-gated K(+) channel HuKI
    Voltage-gated potassium channel HBK1
    Voltage-gated potassium channel subunit Kv1.1
    Gene namesi
    Name:KCNA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:6218. KCNA1.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. dendrite Source: Ensembl
    3. juxtaparanode region of axon Source: BHF-UCL
    4. neuronal cell body Source: Ensembl
    5. plasma membrane Source: Reactome
    6. voltage-gated potassium channel complex Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Episodic ataxia 1 (EA1) [MIM:160120]: An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti174 – 1741V → F in EA1. 2 Publications
    VAR_001508
    Natural varianti177 – 1771I → R in EA1. 1 Publication
    VAR_001509
    Natural varianti184 – 1841F → C in EA1; alters voltage dependence and kinetics of activation though not of C-type inactivation. 1 Publication
    VAR_020830
    Natural varianti226 – 2261T → A in EA1. 1 Publication
    VAR_001510
    Natural varianti226 – 2261T → M in EA1. 1 Publication
    VAR_020831
    Natural varianti226 – 2261T → R in EA1; yields currents with a largely reduced amplitude. 1 Publication
    Corresponds to variant rs28933383 [ dbSNP | Ensembl ].
    VAR_037101
    Natural varianti239 – 2391R → S in EA1. 1 Publication
    VAR_001511
    Natural varianti249 – 2491F → I in EA1. 1 Publication
    VAR_001512
    Natural varianti325 – 3251E → D in EA1; results in non-functional homomeric channels. 1 Publication
    VAR_020832
    Natural varianti329 – 3291L → I in EA1. 1 Publication
    VAR_020833
    Natural varianti342 – 3421S → I in EA1; phenotype without myokymia. 1 Publication
    VAR_020834
    Natural varianti404 – 4041V → I in EA1; yields current amplitudes that were not different from wild-type; coexpression with wild-type partially corrected the alterations in activation parameters. 2 Publications
    VAR_001513
    Natural varianti408 – 4081V → A in EA1; channels have voltage dependence similar to that of wild-type channels but with faster kinetics and increased C-type inactivation. 1 Publication
    VAR_001514
    Myokymia isolated 1 (MK1) [MIM:160120]: A condition characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have no grave significance.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti226 – 2261T → K in MK1; induces a reduced efflux of potassium ions during depolarization which results in increased muscle cell activity; coexpression studies of the mutant protein with the wild-type protein produces significantly reduced currents suggesting a severe effect of the mutation. 1 Publication
    Corresponds to variant rs28933383 [ dbSNP | Ensembl ].
    VAR_037100
    Natural varianti242 – 2421A → P in MK1; 10% reduction of mean peak current amplitudes compared to wil-dtype; mutant and wild-type expression together is consistent with a loss-of-function effect of the mutation. 1 Publication
    Corresponds to variant rs28933381 [ dbSNP | Ensembl ].
    VAR_037102
    Natural varianti244 – 2441P → H in MK1; no difference between the mutation compared to wild-type; although coexpression experiments with wild-type RNA yielded a peak current amplitude that was 200% of wildt-ype alone; coexpression of the mutant and wild-type genes had only a small effect on current activation parameters. 1 Publication
    Corresponds to variant rs28933382 [ dbSNP | Ensembl ].
    VAR_037103

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi35 – 362CC → AA: No effect on palmitoylation, no effect on current kinetics.
    Mutagenesisi243 – 2431C → A: Strongly decreases palmitoylation and alters current kinetics. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi160120. phenotype.
    Orphaneti37612. Episodic ataxia type 1.
    972. Hereditary continuous muscle fiber activity.
    199326. Isolated autosomal dominant hypomagnesemia, Glaudemans type.
    PharmGKBiPA30019.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 495495Potassium voltage-gated channel subfamily A member 1PRO_0000053968Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi207 – 2071N-linked (GlcNAc...)Sequence Analysis
    Lipidationi243 – 2431S-palmitoyl cysteine1 Publication
    Modified residuei322 – 3221Phosphoserine; by PKASequence Analysis
    Modified residuei445 – 4451Phosphoserine; by PKASequence Analysis

    Post-translational modificationi

    Palmitoylated on Cys-243; which may be required for membrane targeting.1 Publication

    Keywords - PTMi

    Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

    Proteomic databases

    PaxDbiQ09470.
    PRIDEiQ09470.

    PTM databases

    PhosphoSiteiQ09470.

    Expressioni

    Gene expression databases

    BgeeiQ09470.
    CleanExiHS_KCNA1.
    GenevestigatoriQ09470.

    Organism-specific databases

    HPAiCAB022365.

    Interactioni

    Subunit structurei

    Heterotetramer of potassium channel proteins. Binds KCNAB2 and PDZ domains of DLG1, DLG2 and DLG4 By similarity. Interacts with LGI1 within a complex containing LGI1, KCNA4 and KCNAB1 By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Dlg3Q629362EBI-8286599,EBI-349596From a different organism.
    DLG4P783522EBI-8286599,EBI-80389

    Protein-protein interaction databases

    BioGridi109939. 7 interactions.
    IntActiQ09470. 3 interactions.
    MINTiMINT-1900397.
    STRINGi9606.ENSP00000228858.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2AFLmodel-A/B/C/D326-407[»]
    ProteinModelPortaliQ09470.
    SMRiQ09470. Positions 36-419.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei168 – 18619Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei221 – 24222Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei254 – 27421Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei290 – 30920Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei326 – 34520Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei387 – 40822Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi372 – 3776Selectivity filterBy similarity
    Motifi493 – 4953PDZ-bindingBy similarity

    Domaini

    The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
    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.
    HOGENOMiHOG000231015.
    HOVERGENiHBG052230.
    InParanoidiQ09470.
    KOiK04874.
    OMAiEHDDHEC.
    OrthoDBiEOG7M0NRD.
    PhylomeDBiQ09470.
    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.
    IPR003972. K_chnl_volt-dep_Kv1.
    IPR004048. K_chnl_volt-dep_Kv1.1.
    IPR003131. T1-type_BTB.
    IPR028325. VG_K_chnl.
    [Graphical view]
    PANTHERiPTHR11537. PTHR11537. 1 hit.
    PfamiPF02214. BTB_2. 1 hit.
    PF00520. Ion_trans. 1 hit.
    [Graphical view]
    PRINTSiPR00169. KCHANNEL.
    PR01508. KV11CHANNEL.
    PR01491. KVCHANNEL.
    PR01496. SHAKERCHANEL.
    SMARTiSM00225. BTB. 1 hit.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q09470-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTVMSGENVD EASAAPGHPQ DGSYPRQADH DDHECCERVV INISGLRFET    50
    QLKTLAQFPN TLLGNPKKRM RYFDPLRNEY FFDRNRPSFD AILYYYQSGG 100
    RLRRPVNVPL DMFSEEIKFY ELGEEAMEKF REDEGFIKEE ERPLPEKEYQ 150
    RQVWLLFEYP ESSGPARVIA IVSVMVILIS IVIFCLETLP ELKDDKDFTG 200
    TVHRIDNTTV IYNSNIFTDP FFIVETLCII WFSFELVVRF FACPSKTDFF 250
    KNIMNFIDIV AIIPYFITLG TEIAEQEGNQ KGEQATSLAI LRVIRLVRVF 300
    RIFKLSRHSK GLQILGQTLK ASMRELGLLI FFLFIGVILF SSAVYFAEAE 350
    EAESHFSSIP DAFWWAVVSM TTVGYGDMYP VTIGGKIVGS LCAIAGVLTI 400
    ALPVPVIVSN FNYFYHRETE GEEQAQLLHV SSPNLASDSD LSRRSSSTMS 450
    KSEYMEIEED MNNSIAHYRQ VNIRTANCTT ANQNCVNKSK LLTDV 495
    Length:495
    Mass (Da):56,466
    Last modified:February 10, 2009 - v2
    Checksum:i0A1B1AB87BCDDEBA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti265 – 2651Missing no nucleotide entry (PubMed:2128063)Curated
    Sequence conflicti315 – 3151L → R no nucleotide entry (PubMed:2128063)Curated
    Sequence conflicti452 – 4521S → Y in AAA36139. 1 PublicationCurated

    RNA editingi

    Partially edited. RNA editing varies from 17% in the caudate nucleus to 68% in the spinal cord and to 77% in the medulla.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti174 – 1741V → F in EA1. 2 Publications
    VAR_001508
    Natural varianti177 – 1771I → R in EA1. 1 Publication
    VAR_001509
    Natural varianti184 – 1841F → C in EA1; alters voltage dependence and kinetics of activation though not of C-type inactivation. 1 Publication
    VAR_020830
    Natural varianti204 – 2041R → H.
    Corresponds to variant rs2229000 [ dbSNP | Ensembl ].
    VAR_020051
    Natural varianti226 – 2261T → A in EA1. 1 Publication
    VAR_001510
    Natural varianti226 – 2261T → K in MK1; induces a reduced efflux of potassium ions during depolarization which results in increased muscle cell activity; coexpression studies of the mutant protein with the wild-type protein produces significantly reduced currents suggesting a severe effect of the mutation. 1 Publication
    Corresponds to variant rs28933383 [ dbSNP | Ensembl ].
    VAR_037100
    Natural varianti226 – 2261T → M in EA1. 1 Publication
    VAR_020831
    Natural varianti226 – 2261T → R in EA1; yields currents with a largely reduced amplitude. 1 Publication
    Corresponds to variant rs28933383 [ dbSNP | Ensembl ].
    VAR_037101
    Natural varianti239 – 2391R → S in EA1. 1 Publication
    VAR_001511
    Natural varianti242 – 2421A → P in MK1; 10% reduction of mean peak current amplitudes compared to wil-dtype; mutant and wild-type expression together is consistent with a loss-of-function effect of the mutation. 1 Publication
    Corresponds to variant rs28933381 [ dbSNP | Ensembl ].
    VAR_037102
    Natural varianti244 – 2441P → H in MK1; no difference between the mutation compared to wild-type; although coexpression experiments with wild-type RNA yielded a peak current amplitude that was 200% of wildt-ype alone; coexpression of the mutant and wild-type genes had only a small effect on current activation parameters. 1 Publication
    Corresponds to variant rs28933382 [ dbSNP | Ensembl ].
    VAR_037103
    Natural varianti249 – 2491F → I in EA1. 1 Publication
    VAR_001512
    Natural varianti325 – 3251E → D in EA1; results in non-functional homomeric channels. 1 Publication
    VAR_020832
    Natural varianti329 – 3291L → I in EA1. 1 Publication
    VAR_020833
    Natural varianti342 – 3421S → I in EA1; phenotype without myokymia. 1 Publication
    VAR_020834
    Natural varianti400 – 4001I → V in RNA edited version.
    VAR_016805
    Natural varianti404 – 4041V → I in EA1; yields current amplitudes that were not different from wild-type; coexpression with wild-type partially corrected the alterations in activation parameters. 2 Publications
    VAR_001513
    Natural varianti408 – 4081V → A in EA1; channels have voltage dependence similar to that of wild-type channels but with faster kinetics and increased C-type inactivation. 1 Publication
    VAR_001514

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L02750 mRNA. Translation: AAA36139.1.
    AC006063 Genomic DNA. No translation available.
    CH471116 Genomic DNA. Translation: EAW88833.1.
    BC101733 mRNA. Translation: AAI01734.1.
    BC112180 mRNA. Translation: AAI12181.1.
    CCDSiCCDS8535.1.
    PIRiI57680.
    RefSeqiNP_000208.2. NM_000217.2.
    UniGeneiHs.416139.

    Genome annotation databases

    EnsembliENST00000382545; ENSP00000371985; ENSG00000111262.
    GeneIDi3736.
    KEGGihsa:3736.
    UCSCiuc001qnh.3. human.

    Polymorphism databases

    DMDMi223590092.

    Keywords - Coding sequence diversityi

    Polymorphism, RNA editing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L02750 mRNA. Translation: AAA36139.1 .
    AC006063 Genomic DNA. No translation available.
    CH471116 Genomic DNA. Translation: EAW88833.1 .
    BC101733 mRNA. Translation: AAI01734.1 .
    BC112180 mRNA. Translation: AAI12181.1 .
    CCDSi CCDS8535.1.
    PIRi I57680.
    RefSeqi NP_000208.2. NM_000217.2.
    UniGenei Hs.416139.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2AFL model - A/B/C/D 326-407 [» ]
    ProteinModelPortali Q09470.
    SMRi Q09470. Positions 36-419.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109939. 7 interactions.
    IntActi Q09470. 3 interactions.
    MINTi MINT-1900397.
    STRINGi 9606.ENSP00000228858.

    Chemistry

    BindingDBi Q09470.
    ChEMBLi CHEMBL2362996.
    DrugBanki DB01189. Desflurane.
    DB00228. Enflurane.
    DB00753. Isoflurane.
    DB01028. Methoxyflurane.
    DB01236. Sevoflurane.
    GuidetoPHARMACOLOGYi 538.

    Protein family/group databases

    TCDBi 1.A.1.2.12. the voltage-gated ion channel (vic) superfamily.

    PTM databases

    PhosphoSitei Q09470.

    Polymorphism databases

    DMDMi 223590092.

    Proteomic databases

    PaxDbi Q09470.
    PRIDEi Q09470.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000382545 ; ENSP00000371985 ; ENSG00000111262 .
    GeneIDi 3736.
    KEGGi hsa:3736.
    UCSCi uc001qnh.3. human.

    Organism-specific databases

    CTDi 3736.
    GeneCardsi GC12P005019.
    GeneReviewsi KCNA1.
    HGNCi HGNC:6218. KCNA1.
    HPAi CAB022365.
    MIMi 160120. phenotype.
    176260. gene.
    neXtProti NX_Q09470.
    Orphaneti 37612. Episodic ataxia type 1.
    972. Hereditary continuous muscle fiber activity.
    199326. Isolated autosomal dominant hypomagnesemia, Glaudemans type.
    PharmGKBi PA30019.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1226.
    HOGENOMi HOG000231015.
    HOVERGENi HBG052230.
    InParanoidi Q09470.
    KOi K04874.
    OMAi EHDDHEC.
    OrthoDBi EOG7M0NRD.
    PhylomeDBi Q09470.
    TreeFami TF313103.

    Enzyme and pathway databases

    Reactomei REACT_75770. Voltage gated Potassium channels.

    Miscellaneous databases

    GeneWikii Kv1.1.
    GenomeRNAii 3736.
    NextBioi 14621.
    PROi Q09470.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q09470.
    CleanExi HS_KCNA1.
    Genevestigatori Q09470.

    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.
    IPR003972. K_chnl_volt-dep_Kv1.
    IPR004048. K_chnl_volt-dep_Kv1.1.
    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.
    [Graphical view ]
    PRINTSi PR00169. KCHANNEL.
    PR01508. KV11CHANNEL.
    PR01491. KVCHANNEL.
    PR01496. SHAKERCHANEL.
    SMARTi SM00225. BTB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Human potassium channel genes: molecular cloning and functional expression."
      Ramaswami M., Gautam M., Kamb A., Rudy B., Tanouye M.A., Mathew M.K.
      Mol. Cell. Neurosci. 1:214-223(1990)
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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].
      Tissue: Brain cortex.
    5. "Cloning and characterization of a cDNA encoding a human brain potassium channel."
      Freeman S.N., Conley E.C., Brennand J.C., Russell N.J.W., Brammar W.J.
      Biochem. Soc. Trans. 18:891-892(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 263-315.
    6. "Nervous system targets of RNA editing identified by comparative genomics."
      Hoopengardner B., Bhalla T., Staber C., Reenan R.
      Science 301:832-836(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: RNA EDITING OF POSITION 400.
    7. "The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence."
      Gubitosi-Klug R.A., Mancuso D.J., Gross R.W.
      Proc. Natl. Acad. Sci. U.S.A. 102:5964-5968(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: PALMITOYLATION AT CYS-243, MUTAGENESIS OF 35-CYS--CYS-36 AND CYS-243.
    8. "Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1."
      Browne D.L., Gancher S.T., Nutt J.G., Brunt E.R.P., Smith E.A., Kramer P., Litt M.
      Nat. Genet. 8:136-140(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EA1 PHE-174; SER-239; ILE-249 AND ALA-408.
    9. "Identification of two new KCNA1 mutations in episodic ataxia/myokymia families."
      Browne D.L., Brunt E.R.P., Griggs R.C., Nutt J.G., Gancher S.T., Smith E.A., Litt M.
      Hum. Mol. Genet. 4:1671-1672(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EA1 PHE-174; CYS-184 AND ASP-325.
    10. "Episodic ataxia results from voltage-dependent potassium channels with altered functions."
      Adelman J.P., Bond C.T., Pessia M., Maylie J.
      Neuron 15:1449-1454(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS EA1 CYS-184; ASP-325 AND ALA-408.
    11. "Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1."
      Comu S., Giuliani M., Narayanan V.
      Ann. Neurol. 40:684-687(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA1 MET-226.
    12. Cited for: VARIANTS EA1 ARG-177; ALA-226 AND ILE-404.
    13. "A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy."
      Zuberi S.M., Eunson L.H., Spauschus A., De Silva R., Tolmie J., Wood N.W., McWilliam R.C., Stephenson J.P.B., Kullmann D.M., Hanna M.G.
      Brain 122:817-825(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA1 ARG-226, CHARACTERIZATION OF VARIANT EA1 ARG-226.
    14. "Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability."
      Eunson L.H., Rea R., Zuberi S.M., Youroukos S., Panayiotopoulos C.P., Liguori R., Avoni P., McWilliam R.C., Stephenson J.B.P., Hanna M.G., Kullmann D.M., Spauschus A.
      Ann. Neurol. 48:647-656(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MK1 PRO-242 AND HIS-244, VARIANT EA1 ILE-404, CHARACTERIZATION OF VARIANTS MK1 PRO-242 AND HIS-244, CHARACTERIZATION OF VARIANT EA1 ILE-404.
    15. "Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 -- a challenging problem."
      Knight M.A., Storey E., McKinlay Gardner R.J., Hand P., Forrest S.M.
      Hum. Mutat. 16:374-374(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA1 ILE-329.
    16. "A novel mutation in KCNA1 causes episodic ataxia without myokymia."
      Lee H., Wang H., Jen J.C., Sabatti C., Baloh R.W., Nelson S.F.
      Hum. Mutat. 24:536-536(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EA1 ILE-342.
    17. "Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia."
      Chen H., von Hehn C., Kaczmarek L.K., Ment L.R., Pober B.R., Hisama F.M.
      Neurogenetics 8:131-135(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MK1 LYS-226, CHARACTERIZATION OF VARIANT MK1 LYS-226.

    Entry informationi

    Entry nameiKCNA1_HUMAN
    AccessioniPrimary (citable) accession number: Q09470
    Secondary accession number(s): A6NM83, Q3MIQ9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: February 10, 2009
    Last modified: October 1, 2014
    This is version 153 of the entry and version 2 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 12
      Human chromosome 12: 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