Entity Details

Primary name KCNA1
Entity type gene
Source Source Link

Details

PrimaryID3736
RefseqGeneNG_011815
SymbolKCNA1
Namepotassium voltage-gated channel subfamily A member 1
Chromosome12
Location12p13.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-19
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCNA1_HUMAN

GO terms

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GOName
GO:0001964 startle response
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005267 potassium channel activity
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006813 potassium ion transport
GO:0006937 regulation of muscle contraction
GO:0007268 chemical synaptic transmission
GO:0007405 neuroblast proliferation
GO:0008076 voltage-gated potassium channel complex
GO:0009986 cell surface
GO:0010644 cell communication by electrical coupling
GO:0010960 magnesium ion homeostasis
GO:0015079 potassium ion transmembrane transporter activity
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0019228 neuronal action potential
GO:0021766 hippocampus development
GO:0023041 neuronal signal transduction
GO:0030054 cell junction
GO:0030425 dendrite
GO:0031410 cytoplasmic vesicle
GO:0033270 paranode region of axon
GO:0034613 cellular protein localization
GO:0042391 regulation of membrane potential
GO:0042734 presynaptic membrane
GO:0043025 neuronal cell body
GO:0043204 perikaryon
GO:0043679 axon terminus
GO:0044224 juxtaparanode region of axon
GO:0044305 calyx of Held
GO:0045202 synapse
GO:0050905 neuromuscular process
GO:0050966 detection of mechanical stimulus involved in sensory perception of pain
GO:0050976 detection of mechanical stimulus involved in sensory perception of touch
GO:0051260 protein homooligomerization
GO:0071286 cellular response to magnesium ion
GO:0071805 potassium ion transmembrane transport
GO:0097718 disordered domain specific binding
GO:0098978 glutamatergic synapse
GO:0099055 integral component of postsynaptic membrane
GO:0099056 integral component of presynaptic membrane
GO:0099508 voltage-gated ion channel activity involved in regulation of presynaptic membrane potential
GO:1903818 positive regulation of voltage-gated potassium channel activity
GO:1905030 voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential

Diseases

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Disease IDSourceNameDescription
160120 OMIMEpisodic ataxia 1 (EA1)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. The disease is caused by variants affecting the gene represented in this entry.
160120 OMIMEpisodic ataxia 1 (EA1)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. The disease is caused by variants affecting the gene represented in this entry.