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1.A.1.2.12
Voltage-gated K+ channel, Kv1.1 or KCNA1. Regulated by syntaxin through dual action on channel surface expression and conductance (Feinshreiber et al., 2009).  Defects cause episodic ataxia type 1 (EA1), an autosomal dominant K+ channelopathy accompanied by short attacks of cerebellar ataxia and dysarthria (D'Adamo et al. 2014). Direct axon-to-myelin linkage by abundant KV1/Cx29 channel interactions in rodent axons supports the idea of an electrically active role for myelin in increasing both the saltatory conduction velocity and the maximal propagation frequency in mammalian myelinated axons (Rash et al. 2016).

Accession Number:Q09470
Protein Name:Potassium voltage-gated channel subfamily A member 1
Length:495
Molecular Weight:56466.00
Species: [9606]
Number of TMSs:6
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate K+

Cross database links:

Genevestigator: Q09470
eggNOG: prNOG17483
HEGENOM: HBG445693
RefSeq: NP_000208.2   
Entrez Gene ID: 3736   
Pfam: PF00520    PF02214   
OMIM: 160120  phenotype
176260  gene
KEGG: hsa:3736   

Gene Ontology

GO:0044224 C:juxtaparanode region of axon
GO:0008076 C:voltage-gated potassium channel complex
GO:0005251 F:delayed rectifier potassium channel activity
GO:0015079 F:potassium ion transmembrane transporter act...
GO:0006813 P:potassium ion transport
GO:0007268 P:synaptic transmission
GO:0055085 P:transmembrane transport

References (15)

[1] “The finished DNA sequence of human chromosome 12.”  Scherer S.E.et.al.   16541075
[2] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[3] “Cloning and characterization of a cDNA encoding a human brain potassium channel.”  Freeman S.N.et.al.   2128063
[4] “Nervous system targets of RNA editing identified by comparative genomics.”  Hoopengardner B.et.al.   12907802
[5] “The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence.”  Gubitosi-Klug R.A.et.al.   15837928
[6] “Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.”  Browne D.L.et.al.   7842011
[7] “Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.”  Browne D.L.et.al.   8541859
[8] “Episodic ataxia results from voltage-dependent potassium channels with altered functions.”  Adelman J.P.et.al.   8845167
[9] “Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.”  Comu S.et.al.   8871592
[10] “Three novel KCNA1 mutations in episodic ataxia type I families.”  Scheffer H.et.al.   9600245
[11] “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.et.al.   10355668
[12] “Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.”  Eunson L.H.et.al.   11026449
[13] “Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 -- a challenging problem.”  Knight M.A.et.al.   11013453
[14] “A novel mutation in KCNA1 causes episodic ataxia without myokymia.”  Lee H.et.al.   15532032
[15] “Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.”  Chen H.et.al.   17136396
Structure:
2AFL     

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MTVMSGENVD EASAAPGHPQ DGSYPRQADH DDHECCERVV INISGLRFET QLKTLAQFPN 
61:	TLLGNPKKRM RYFDPLRNEY FFDRNRPSFD AILYYYQSGG RLRRPVNVPL DMFSEEIKFY 
121:	ELGEEAMEKF REDEGFIKEE ERPLPEKEYQ RQVWLLFEYP ESSGPARVIA IVSVMVILIS 
181:	IVIFCLETLP ELKDDKDFTG TVHRIDNTTV IYNSNIFTDP FFIVETLCII WFSFELVVRF 
241:	FACPSKTDFF KNIMNFIDIV AIIPYFITLG TEIAEQEGNQ KGEQATSLAI LRVIRLVRVF 
301:	RIFKLSRHSK GLQILGQTLK ASMRELGLLI FFLFIGVILF SSAVYFAEAE EAESHFSSIP 
361:	DAFWWAVVSM TTVGYGDMYP VTIGGKIVGS LCAIAGVLTI ALPVPVIVSN FNYFYHRETE 
421:	GEEQAQLLHV SSPNLASDSD LSRRSSSTMS KSEYMEIEED MNNSIAHYRQ VNIRTANCTT 
481:	ANQNCVNKSK LLTDV