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Q09470

- KCNA1_HUMAN

UniProt

Q09470 - KCNA1_HUMAN

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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

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

GO - Biological processi

  1. potassium ion transport Source: ProtInc
  2. protein homooligomerization Source: InterPro
  3. 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.1.2.12. 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
Complete GO annotation...

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. 1 Publication
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.
GeneTreeiENSGT00760000118846.
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

        10         20         30         40         50
MTVMSGENVD EASAAPGHPQ DGSYPRQADH DDHECCERVV INISGLRFET
60 70 80 90 100
QLKTLAQFPN TLLGNPKKRM RYFDPLRNEY FFDRNRPSFD AILYYYQSGG
110 120 130 140 150
RLRRPVNVPL DMFSEEIKFY ELGEEAMEKF REDEGFIKEE ERPLPEKEYQ
160 170 180 190 200
RQVWLLFEYP ESSGPARVIA IVSVMVILIS IVIFCLETLP ELKDDKDFTG
210 220 230 240 250
TVHRIDNTTV IYNSNIFTDP FFIVETLCII WFSFELVVRF FACPSKTDFF
260 270 280 290 300
KNIMNFIDIV AIIPYFITLG TEIAEQEGNQ KGEQATSLAI LRVIRLVRVF
310 320 330 340 350
RIFKLSRHSK GLQILGQTLK ASMRELGLLI FFLFIGVILF SSAVYFAEAE
360 370 380 390 400
EAESHFSSIP DAFWWAVVSM TTVGYGDMYP VTIGGKIVGS LCAIAGVLTI
410 420 430 440 450
ALPVPVIVSN FNYFYHRETE GEEQAQLLHV SSPNLASDSD LSRRSSSTMS
460 470 480 490
KSEYMEIEED MNNSIAHYRQ VNIRTANCTT ANQNCVNKSK LLTDV
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 DB00321. Amitriptyline.
DB06637. Dalfampridine.
DB01189. Desflurane.
DB00228. Enflurane.
DB00753. Isoflurane.
DB01028. Methoxyflurane.
DB01115. Nifedipine.
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.
GeneTreei ENSGT00760000118846.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 154 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

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