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KCNA1_HUMAN

Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed). Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability (PubMed). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed, PubMed). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels (PubMed, PubMed). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA1 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed, PubMed, PubMed, PubMed). In contrast, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed). Regulates neuronal excitability in hippocampus, especially in mossy fibers and medial perforant path axons, preventing neuronal hyperexcitability. Response to toxins that are selective for KCNA1, respectively for KCNA2, suggests that heteromeric potassium channels composed of both KCNA1 and KCNA2 play a role in pacemaking and regulate the output of deep cerebellar nuclear neurons . May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons . May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) release . Plays a role in regulating the generation of action potentials and preventing hyperexcitability in myelinated axons of the vagus nerve, and thereby contributes to the regulation of heart contraction . Required for normal neuromuscular responses (PubMed, PubMed). Regulates the frequency of neuronal action potential firing in response to mechanical stimuli, and plays a role in the perception of pain caused by mechanical stimuli, but does not play a role in the perception of pain due to heat stimuli . Required for normal responses to auditory stimuli and precise location of sound sources, but not for sound perception . The use of toxins that block specific channels suggest that it contributes to the regulation of the axonal release of the neurotransmitter dopamine . Required for normal postnatal brain development and normal proliferation of neuronal precursor cells in the brain . Plays a role in the reabsorption of Mg(2+) in the distal convoluted tubules in the kidney and in magnesium ion homeostasis, probably via its effect on the membrane potential (PubMed, PubMed). [View more on UniProt]

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Position Amino acid Mutation Disease Overlap with binding region
174 Val Phe Episodicataxia1(EA1) -
177 Ile Arg Episodicataxia1(EA1) -
226 Thr Ala Episodicataxia1(EA1) -
239 Arg Ser Episodicataxia1(EA1) -
249 Phe Ile Episodicataxia1(EA1) -
404 Val Ile Episodicataxia1(EA1) -
408 Val Ala Episodicataxia1(EA1) -
184 Phe Cys Episodicataxia1(EA1) -
226 Thr Met Episodicataxia1(EA1) -
325 Glu Asp Episodicataxia1(EA1) -
329 Leu Ile Episodicataxia1(EA1) -
342 Ser Ile Episodicataxia1(EA1) -
226 Thr Lys Myokymiaisolated1(MK1) -
226 Thr Arg Episodicataxia1(EA1) -
242 Ala Pro Myokymiaisolated1(MK1) -
244 Pro His Myokymiaisolated1(MK1) -
255 Asn Asp Myokymiaisolated1(MK1) -

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Molecular function

Term Name % Distance from the top of the tree Annotated in KCNA1_HUMAN
GO:0005216 monoatomic ion channel activity 50.0000 4 yes
GO:0015267 channel activity 50.0000 4 yes
GO:0022836 gated channel activity 50.0000 5 yes
GO:0022890 inorganic cation transmembrane transporter activity 50.0000 4 yes
GO:0005244 voltage-gated monoatomic ion channel activity 44.4444 5 yes
GO:0005249 voltage-gated potassium channel activity 44.4444 7 yes
GO:0005261 monoatomic cation channel activity 44.4444 5 yes
GO:0005267 potassium channel activity 44.4444 6 yes
GO:0008324 monoatomic cation transmembrane transporter activity 44.4444 4 yes
GO:0015079 potassium ion transmembrane transporter activity 44.4444 6 yes
GO:0022832 voltage-gated channel activity 44.4444 6 yes
GO:0022843 voltage-gated monoatomic cation channel activity 44.4444 6 yes
GO:0046873 metal ion transmembrane transporter activity 44.4444 5 yes
GO:0005251 delayed rectifier potassium channel activity 33.3333 8 yes
GO:0099508 voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential 22.2222 6 yes
GO:1905030 voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential 16.6667 6 yes
GO:0097718 disordered domain specific binding 11.1111 4 yes

Biological process

Term Name % Distance from top the of the tree Annotated in KCNA1_HUMAN
GO:0022607 cellular component assembly 50.0000 4 yes
GO:0008104 protein localization 44.4444 4 yes
GO:0043933 protein-containing complex organization 44.4444 4 yes
GO:0065003 protein-containing complex assembly 44.4444 5 yes
GO:0006811 monoatomic ion transport 38.8889 4 yes
GO:0006812 monoatomic cation transport 38.8889 5 yes
GO:0006813 potassium ion transport 38.8889 7 yes
GO:0030001 metal ion transport 38.8889 6 yes
GO:0071805 potassium ion transmembrane transport 38.8889 5 yes
GO:0098655 monoatomic cation transmembrane transport 38.8889 4 yes
GO:0098662 inorganic cation transmembrane transport 38.8889 4 yes
GO:0030030 cell projection organization 33.3333 4 yes
GO:0051259 protein complex oligomerization 33.3333 6 yes
GO:0051260 protein homooligomerization 33.3333 7 yes
GO:0001508 action potential 27.7778 4 yes
GO:0031175 neuron projection development 27.7778 6 yes
GO:0050905 neuromuscular process 27.7778 4 yes
GO:0120036 plasma membrane bounded cell projection organization 27.7778 5 yes
GO:0051128 regulation of cellular component organization 27.7778 4 no
GO:0007268 chemical synaptic transmission 27.7778 7 no
GO:0010646 regulation of cell communication 27.7778 4 no
GO:0050804 modulation of chemical synaptic transmission 27.7778 5 no
GO:0098916 anterograde trans-synaptic signaling 27.7778 6 no
GO:0099177 regulation of trans-synaptic signaling 27.7778 4 no
GO:0099536 synaptic signaling 27.7778 4 no
GO:0099537 trans-synaptic signaling 27.7778 5 no
GO:0048522 positive regulation of cellular process 27.7778 4 no
GO:0048523 negative regulation of cellular process 27.7778 4 no
GO:0051049 regulation of transport 27.7778 4 no
GO:0010038 response to metal ion 22.2222 4 yes
GO:0071241 cellular response to inorganic substance 22.2222 4 yes
GO:0071248 cellular response to metal ion 22.2222 5 yes
GO:0006996 organelle organization 22.2222 4 no
GO:0061024 membrane organization 22.2222 4 no
GO:0019228 neuronal action potential 16.6667 5 yes
GO:0021545 cranial nerve development 16.6667 4 yes
GO:0021554 optic nerve development 16.6667 5 yes
GO:0044057 regulation of system process 16.6667 4 yes
GO:0006937 regulation of muscle contraction 11.1111 6 yes
GO:0007405 neuroblast proliferation 11.1111 4 yes
GO:0010960 magnesium ion homeostasis 11.1111 4 yes
GO:0032026 response to magnesium ion 11.1111 5 yes
GO:0050966 detection of mechanical stimulus involved in sensory perception of pain 11.1111 5 yes
GO:0050974 detection of mechanical stimulus involved in sensory perception 11.1111 4 yes
GO:0050976 detection of mechanical stimulus involved in sensory perception of touch 11.1111 5 yes
GO:0050982 detection of mechanical stimulus 11.1111 4 yes
GO:0055080 monoatomic cation homeostasis 11.1111 4 yes
GO:0061564 axon development 11.1111 7 yes
GO:0062149 detection of stimulus involved in sensory perception of pain 11.1111 4 yes
GO:0071286 cellular response to magnesium ion 11.1111 6 yes
GO:0086009 membrane repolarization 11.1111 4 yes
GO:0086011 membrane repolarization during action potential 11.1111 5 yes
GO:0090257 regulation of muscle system process 11.1111 5 yes

Disease

No data found.

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
CNTP1_HUMAN [view entry] [view interactions] Low throughput yes yes
RTN4_HUMAN [view entry] [view interactions] Low throughput yes yes
KCNA2_HUMAN [view entry] [view interactions] Low throughput yes yes
KCNA4_HUMAN [view entry] [view interactions] Low throughput yes yes
KCNRG_HUMAN [view interactions] Low throughput no no
DLG4_HUMAN [view entry] [view interactions] Low throughput yes yes
KCAB2_HUMAN [view entry] [view interactions] Low throughput yes yes
KCNA3_HUMAN [view entry] [view interactions] Low throughput yes no
KCNA1_HUMAN [view entry] [view interactions] Low throughput yes yes
FCERG_HUMAN [view interactions] High throughput no no
UBC_HUMAN [view entry] [view interactions] High throughput yes yes
KPCD2_HUMAN [view interactions] High throughput no yes
PRRT2_HUMAN [view entry] [view interactions] High throughput yes no
KCNS1_HUMAN [view interactions] High throughput no no
KCNS2_HUMAN [view interactions] High throughput no no
KCAB1_HUMAN [view interactions] High throughput no no
KCNB1_HUMAN [view entry] [view interactions] High throughput yes yes
KCNQ2_HUMAN [view entry] [view interactions] High throughput yes yes
CNTP2_HUMAN [view entry] [view interactions] High throughput yes yes
GRIA2_HUMAN [view entry] [view interactions] High throughput yes yes
SSR3_HUMAN [view interactions] High throughput no yes
DLG3_HUMAN [view entry] [view interactions] High throughput yes yes
DLGP1_HUMAN [view entry] [view interactions] High throughput yes no
ITM2B_HUMAN [view interactions] High throughput no yes
MAL_HUMAN [view interactions] High throughput no no
IR3IP_HUMAN [view interactions] High throughput no yes
TM14B_HUMAN [view interactions] High throughput no no
APOL2_HUMAN [view entry] [view interactions] High throughput yes yes
TM86A_HUMAN [view interactions] High throughput no yes
JAGN1_HUMAN [view interactions] High throughput no no
SGTA_HUMAN [view interactions] High throughput no yes
KCA10_HUMAN [view interactions] High throughput no no
GPR42_HUMAN [view interactions] High throughput no no
DOLK_HUMAN [view interactions] High throughput no no
GP152_HUMAN [view interactions] High throughput no no