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Identification
HMDB Protein ID HMDBP10840
Secondary Accession Numbers
  • 17130
Name Potassium voltage-gated channel subfamily A member 1
Synonyms
  1. Voltage-gated K(+) channel HuKI
  2. Voltage-gated potassium channel HBK1
  3. Voltage-gated potassium channel subunit Kv1.1
Gene Name KCNA1
Protein Type Unknown
Biological Properties
General Function Involved in protein binding
Specific Function 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
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
ion channel complex
cation channel complex
potassium channel complex
voltage-gated potassium channel complex
macromolecular complex
protein complex
Function
binding
protein binding
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
transporter activity
ion channel activity
cation channel activity
potassium channel activity
voltage-gated potassium channel activity
Process
establishment of localization
transport
transmembrane transport
monovalent inorganic cation transport
potassium ion transport
ion transport
cation transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:1
Locus 12p13.32
SNPs KCNA1
Gene Sequence
>1488 bp
ATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAG
GATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTG
ATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAAC
ACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTAC
TTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGC
CGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTAC
GAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAG
GAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCC
GAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCC
ATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGC
ACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCC
TTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTC
TTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTG
GCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAG
AAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTT
AGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAA
GCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTT
TCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCC
GATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCT
GTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATT
GCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAG
GGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGAC
CTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGAT
ATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACT
GCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAA
Protein Properties
Number of Residues 495
Molecular Weight 56465.0
Theoretical pI 4.82
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 168-186
  • 221-242
  • 254-274
  • 290-309
  • 326-345
  • 387-408
Protein Sequence
>Potassium voltage-gated channel subfamily A member 1
MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPN
TLLGNPKKRMRYFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFY
ELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVWLLFEYPESSGPARVIAIVSVMVILIS
IVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFFIVETLCIIWFSFELVVRF
FACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQKGEQATSLAILRVIRLVRVF
RIFKLSRHSKGLQILGQTLKASMRELGLLIFFLFIGVILFSSAVYFAEAEEAESHFSSIP
DAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETE
GEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIEEDMNNSIAHYRQVNIRTANCTT
ANQNCVNKSKLLTDV
GenBank ID Protein 119395748
UniProtKB/Swiss-Prot ID Q09470
UniProtKB/Swiss-Prot Entry Name KCNA1_HUMAN
PDB IDs
GenBank Gene ID NM_000217.2
GeneCard ID KCNA1
GenAtlas ID KCNA1
HGNC ID HGNC:6218
References
General References
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  3. Freeman SN, Conley EC, Brennand JC, Russell NJ, Brammar WJ: Cloning and characterization of a cDNA encoding a human brain potassium channel. Biochem Soc Trans. 1990 Oct;18(5):891-2. [PubMed:2128063 ]
  4. Hoopengardner B, Bhalla T, Staber C, Reenan R: Nervous system targets of RNA editing identified by comparative genomics. Science. 2003 Aug 8;301(5634):832-6. [PubMed:12907802 ]
  5. Gubitosi-Klug RA, Mancuso DJ, Gross RW: The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence. Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):5964-8. Epub 2005 Apr 18. [PubMed:15837928 ]
  6. Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M: Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet. 1994 Oct;8(2):136-40. [PubMed:7842011 ]
  7. Browne DL, Brunt ER, Griggs RC, Nutt JG, Gancher ST, Smith EA, Litt M: Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum Mol Genet. 1995 Sep;4(9):1671-2. [PubMed:8541859 ]
  8. Adelman JP, Bond CT, Pessia M, Maylie J: Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron. 1995 Dec;15(6):1449-54. [PubMed:8845167 ]
  9. Comu S, Giuliani M, Narayanan V: Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. Ann Neurol. 1996 Oct;40(4):684-7. [PubMed:8871592 ]
  10. Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH: Three novel KCNA1 mutations in episodic ataxia type I families. Hum Genet. 1998 Apr;102(4):464-6. [PubMed:9600245 ]
  11. Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Kullmann DM, Hanna MG: A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain. 1999 May;122 ( Pt 5):817-25. [PubMed:10355668 ]
  12. Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A: Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol. 2000 Oct;48(4):647-56. [PubMed:11026449 ]
  13. Knight MA, Storey E, McKinlay Gardner RJ, Hand P, Forrest SM: Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem. Hum Mutat. 2000 Oct;16(4):374. [PubMed:11013453 ]
  14. Lee H, Wang H, Jen JC, Sabatti C, Baloh RW, Nelson SF: A novel mutation in KCNA1 causes episodic ataxia without myokymia. Hum Mutat. 2004 Dec;24(6):536. [PubMed:15532032 ]
  15. Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM: Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics. 2007 Apr;8(2):131-5. Epub 2006 Nov 29. [PubMed:17136396 ]