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Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1)

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HUK1; RBK1; AEMK; HBK1; EA1; MBK1; MK1; Potassium Voltage-Gated Channel,Shaker-Related Subfamily,Member 1; Episodic Ataxia With Myokymia

Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1)
CCC J959
HGNC 6218
MGI 96654
PubMed 17136396
RGD 2949
UniProt Q09470
Wiki KCNA1
KCNA1 encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD).
The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK).This transcript is supported by sequences from mouse.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel Shaker Related Subfamily, Member 1 (KCNA1) ELISA Kit Customized Service Offer
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  2. "The finished DNA sequence of human chromosome 12." Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
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  5. "Subunit composition and novel localization of K+ channels in spinal cord."J. Comp. Neurol. 429:166-176(2001) [PubMed] [Europe PMC] [Abstract]
  6. "Nervous system targets of RNA editing identified by comparative genomics."Science 301:832-836(2003) [PubMed] [Europe PMC] [Abstract]
  7. "The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence."Proc. Natl. Acad. Sci. U.S.A. 102:5964-5968(2005) [PubMed] [Europe PMC] [Abstract]
  8. "Ionic channel function in action potential generation: current perspective."Mol. Neurobiol. 35:129-150(2007) [PubMed] [Europe PMC] [Abstract]
  9. "Potassium channel regulator KCNRG regulates surface expression of Shaker-type potassium channels."Biochem. Biophys. Res. Commun. 391:1301-1305(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1."Brain 133:3530-3540(2010) [PubMed] [Europe PMC] [Abstract]
  11. "Evidence for presence and functional effects of Kv1.1 channels in beta-cells: general survey and results from mceph/mceph mice."PLoS ONE 6:E18213-E18213(2011) [PubMed] [Europe PMC] [Abstract]
  12. "Potassium channel KCNA1 modulates oncogene-induced senescence and transformation."Cancer Res. 73:5253-5265(2013) [PubMed] [Europe PMC] [Abstract]
  13. "Ankyrin-3 is a novel binding partner of the voltage-gated potassium channel Kv1.1 implicated in renal magnesium handling."Kidney Int. 85:94-102(2014) [PubMed] [Europe PMC] [Abstract]
  14. "Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1."Nat. Genet. 8:136-140(1994) [PubMed] [Europe PMC] [Abstract]
  15. "Identification of two new KCNA1 mutations in episodic ataxia/myokymia families."Hum. Mol. Genet. 4:1671-1672(1995) [PubMed] [Europe PMC] [Abstract]
  16. "Episodic ataxia results from voltage-dependent potassium channels with altered functions."Neuron 15:1449-1454(1995) [PubMed] [Europe PMC] [Abstract]
  17. "Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1."Ann. Neurol. 40:684-687(1996) [PubMed] [Europe PMC] [Abstract]
  18. "Three novel KCNA1 mutations in episodic ataxia type I families."Hum. Genet. 102:464-466(1998) [PubMed] [Europe PMC] [Abstract]
  19. "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 122:817-825(1999) [PubMed] [Europe PMC] [Abstract]
  20. "Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability."Ann. Neurol. 48:647-656(2000) [PubMed] [Europe PMC] [Abstract]
  21. "Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 -- a challenging problem."Hum. Mutat. 16:374-374(2000) [PubMed] [Europe PMC] [Abstract]
  22. "Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation."J. Neurosci. 22:4786-4793(2002) [PubMed] [Europe PMC] [Abstract]
  23. "A novel mutation in KCNA1 causes episodic ataxia without myokymia."Hum. Mutat. 24:536-536(2004) [PubMed] [Europe PMC] [Abstract]
  24. "Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2."Eur. J. Neurosci. 24:3073-3083(2006) [PubMed] [Europe PMC] [Abstract]
  25. "Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia."Neurogenetics 8:131-135(2007) [PubMed] [Europe PMC] [Abstract]
  26. "A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia."J. Clin. Invest. 119:936-942(2009) [PubMed] [Europe PMC] [Abstract]
  27. "Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia."J. Biol. Chem. 285:171-178(2010) [PubMed] [Europe PMC] [Abstract]