NP_000208.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
56,466 Da
NCBI Official Full Name
potassium voltage-gated channel subfamily A member 1
NCBI Official Synonym Full Names
potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
NCBI Official Synonym Symbols
EA1; MK1; AEMK; HBK1; HUK1; MBK1; RBK1; KV1.1 [Similar Products]
NCBI Protein Information
potassium voltage-gated channel subfamily A member 1; voltage-gated K(+) channel HuKI; voltage-gated potassium channel HBK1; voltage-gated potassium channel subunit Kv1.1
UniProt Protein Name
Potassium voltage-gated channel subfamily A member 1
UniProt Synonym Protein Names
Voltage-gated K(+) channel HuKI; Voltage-gated potassium channel HBK1; Voltage-gated potassium channel subunit Kv1.1
UniProt Entry Name
KCNA1_HUMAN
NCBI Summary for KCNA1
This gene 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). [provided by RefSeq, Jul 2008]
UniProt Comments for KCNA1
Kv1.1: 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. Defects in KCNA1 are the cause of episodic ataxia type 1 (EA1); also known as paroxysmal or episodic ataxia with myokymia (EAM) or paroxysmal ataxia with neuromyotonia. EA1 is 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. Defects in KCNA1 are the cause of myokymia isolated type 1 (MK1). Myokymia is 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. Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.1/KCNA1 sub-subfamily.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Channel, potassium
Chromosomal Location of Human Ortholog: 12p13.32
Cellular Component: voltage-gated potassium channel complex; cell surface; integral to plasma membrane; endoplasmic reticulum; dendrite; paranode region of axon; cytoplasmic membrane-bound vesicle; integral to membrane; perikaryon; cytosol; presynaptic membrane; cell soma; apical plasma membrane; plasma membrane; synapse; nerve terminal; cell junction
Molecular Function: voltage-gated potassium channel activity; protein binding; potassium channel activity; delayed rectifier potassium channel activity; potassium ion transmembrane transporter activity
Biological Process: detection of mechanical stimulus involved in sensory perception of pain; synaptic transmission; regulation of membrane potential; regulation of muscle contraction; neuromuscular process; generation of action potential; detection of mechanical stimulus involved in sensory perception of touch; protein homooligomerization; potassium ion transport
Disease: Episodic Ataxia, Type 1
Research Articles on KCNA1
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Products associated with anti-KCNA1 antibody
Pathways associated with anti-KCNA1 antibody
Diseases associated with anti-KCNA1 antibody
Organs/Tissues associated with anti-KCNA1 antibody
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