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]
To display all evidence describing the interaction with a partner, click on the protein name left to the bars.
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 |