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) | - |
405 | Pro | Leu | - | - |
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 | ion channel activity | 50.0000 | 4 | yes |
GO:0005244 | voltage-gated ion channel activity | 50.0000 | 4 | yes |
GO:0005261 | cation channel activity | 50.0000 | 5 | yes |
GO:0008324 | cation transmembrane transporter activity | 50.0000 | 4 | yes |
GO:0015267 | channel activity | 50.0000 | 4 | yes |
GO:0022832 | voltage-gated channel activity | 50.0000 | 6 | yes |
GO:0022836 | gated channel activity | 50.0000 | 5 | yes |
GO:0022890 | inorganic cation transmembrane transporter activity | 50.0000 | 4 | yes |
GO:0046873 | metal ion transmembrane transporter activity | 50.0000 | 5 | yes |
GO:0005249 | voltage-gated potassium channel activity | 40.9091 | 6 | yes |
GO:0005267 | potassium channel activity | 40.9091 | 6 | yes |
GO:0015079 | potassium ion transmembrane transporter activity | 40.9091 | 6 | yes |
GO:0022843 | voltage-gated cation channel activity | 40.9091 | 5 | yes |
GO:0005251 | delayed rectifier potassium channel activity | 36.3636 | 7 | yes |
GO:0097718 | disordered domain specific binding | 9.0909 | 4 | yes |
GO:0099508 | voltage-gated ion channel activity involved in regulation of presynaptic membrane potential | 9.0909 | 5 | yes |
GO:1905030 | voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential | 9.0909 | 5 | yes |
Biological process
Term | Name | % | Distance from top the of the tree | Annotated in KCNA1_HUMAN |
---|---|---|---|---|
GO:0043269 | regulation of ion transport | 59.0909 | 5 | yes |
GO:0051049 | regulation of transport | 59.0909 | 4 | yes |
GO:0034762 | regulation of transmembrane transport | 54.5455 | 4 | yes |
GO:0034765 | regulation of ion transmembrane transport | 54.5455 | 5 | yes |
GO:0006811 | ion transport | 45.4545 | 4 | yes |
GO:0006812 | cation transport | 45.4545 | 5 | yes |
GO:0008104 | protein localization | 45.4545 | 4 | yes |
GO:0022607 | cellular component assembly | 45.4545 | 4 | yes |
GO:0030001 | metal ion transport | 45.4545 | 6 | yes |
GO:0098655 | cation transmembrane transport | 45.4545 | 4 | yes |
GO:0098660 | inorganic ion transmembrane transport | 45.4545 | 4 | yes |
GO:0098662 | inorganic cation transmembrane transport | 45.4545 | 5 | yes |
GO:0043933 | protein-containing complex organization | 40.9091 | 4 | yes |
GO:0048522 | positive regulation of cellular process | 40.9091 | 4 | yes |
GO:0065003 | protein-containing complex assembly | 40.9091 | 5 | yes |
GO:0006813 | potassium ion transport | 36.3636 | 7 | yes |
GO:0071805 | potassium ion transmembrane transport | 36.3636 | 6 | yes |
GO:0001508 | action potential | 31.8182 | 4 | yes |
GO:0051259 | protein complex oligomerization | 27.2727 | 6 | yes |
GO:0051260 | protein homooligomerization | 27.2727 | 7 | yes |
GO:0010646 | regulation of cell communication | 27.2727 | 4 | no |
GO:0007268 | chemical synaptic transmission | 22.7273 | 6 | yes |
GO:0019228 | neuronal action potential | 22.7273 | 5 | yes |
GO:0044057 | regulation of system process | 22.7273 | 4 | yes |
GO:0098916 | anterograde trans-synaptic signaling | 22.7273 | 5 | yes |
GO:0099537 | trans-synaptic signaling | 22.7273 | 4 | yes |
GO:0048523 | negative regulation of cellular process | 22.7273 | 4 | no |
GO:0072657 | protein localization to membrane | 22.7273 | 4 | no |
GO:0032880 | regulation of protein localization | 22.7273 | 5 | no |
GO:0050804 | modulation of chemical synaptic transmission | 22.7273 | 5 | no |
GO:0060341 | regulation of cellular localization | 22.7273 | 4 | no |
GO:0099177 | regulation of trans-synaptic signaling | 22.7273 | 4 | no |
GO:0051128 | regulation of cellular component organization | 22.7273 | 4 | no |
GO:0030030 | cell projection organization | 22.7273 | 4 | no |
GO:0007399 | nervous system development | 22.7273 | 4 | no |
GO:0010038 | response to metal ion | 18.1818 | 4 | yes |
GO:0043270 | positive regulation of ion transport | 18.1818 | 5 | yes |
GO:0048878 | chemical homeostasis | 18.1818 | 4 | yes |
GO:0050905 | neuromuscular process | 18.1818 | 4 | yes |
GO:0051050 | positive regulation of transport | 18.1818 | 4 | yes |
GO:0071241 | cellular response to inorganic substance | 18.1818 | 4 | yes |
GO:0071248 | cellular response to metal ion | 18.1818 | 5 | yes |
GO:1904062 | regulation of cation transmembrane transport | 18.1818 | 6 | yes |
GO:0010959 | regulation of metal ion transport | 13.6364 | 6 | yes |
GO:0022898 | regulation of transmembrane transporter activity | 13.6364 | 4 | yes |
GO:0032412 | regulation of ion transmembrane transporter activity | 13.6364 | 5 | yes |
GO:0043266 | regulation of potassium ion transport | 13.6364 | 7 | yes |
GO:1901379 | regulation of potassium ion transmembrane transport | 13.6364 | 7 | yes |
GO:2001257 | regulation of cation channel activity | 13.6364 | 6 | yes |
GO:0006937 | regulation of muscle contraction | 9.0909 | 6 | yes |
GO:0007405 | neuroblast proliferation | 9.0909 | 4 | yes |
GO:0010960 | magnesium ion homeostasis | 9.0909 | 8 | yes |
GO:0032026 | response to magnesium ion | 9.0909 | 5 | yes |
GO:0032411 | positive regulation of transporter activity | 9.0909 | 4 | yes |
GO:0032414 | positive regulation of ion transmembrane transporter activity | 9.0909 | 5 | yes |
GO:0034764 | positive regulation of transmembrane transport | 9.0909 | 5 | yes |
GO:0034767 | positive regulation of ion transmembrane transport | 9.0909 | 6 | yes |
GO:0043268 | positive regulation of potassium ion transport | 9.0909 | 6 | yes |
GO:0050801 | ion homeostasis | 9.0909 | 5 | yes |
GO:0050966 | detection of mechanical stimulus involved in sensory perception of pain | 9.0909 | 5 | yes |
GO:0050974 | detection of mechanical stimulus involved in sensory perception | 9.0909 | 4 | yes |
GO:0050976 | detection of mechanical stimulus involved in sensory perception of touch | 9.0909 | 5 | yes |
GO:0050982 | detection of mechanical stimulus | 9.0909 | 4 | yes |
GO:0055065 | metal ion homeostasis | 9.0909 | 7 | yes |
GO:0055080 | cation homeostasis | 9.0909 | 6 | yes |
GO:0062149 | detection of stimulus involved in sensory perception of pain | 9.0909 | 4 | yes |
GO:0071286 | cellular response to magnesium ion | 9.0909 | 6 | yes |
GO:0072507 | divalent inorganic cation homeostasis | 9.0909 | 7 | yes |
GO:0090257 | regulation of muscle system process | 9.0909 | 5 | yes |
GO:0098771 | inorganic ion homeostasis | 9.0909 | 6 | yes |
GO:1901016 | regulation of potassium ion transmembrane transporter activity | 9.0909 | 6 | yes |
GO:1901018 | positive regulation of potassium ion transmembrane transporter activity | 9.0909 | 6 | yes |
GO:1901381 | positive regulation of potassium ion transmembrane transport | 9.0909 | 7 | yes |
GO:1903818 | positive regulation of voltage-gated potassium channel activity | 9.0909 | 7 | yes |
GO:1904064 | positive regulation of cation transmembrane transport | 9.0909 | 7 | yes |
GO:2001259 | positive regulation of cation channel activity | 9.0909 | 6 | yes |
Disease
Term | Name | % | Distance from top the of the tree | Annotated in KCNA1_HUMAN |
---|---|---|---|---|
DOID:331 | central nervous system disease | 36.3636 | 3 | yes |
DOID:1826 | epilepsy | 27.2727 | 5 | no |
DOID:936 | brain disease | 27.2727 | 4 | no |
DOID:0050701 | electroclinical syndrome | 22.7273 | 6 | no |
DOID:0112202 | developmental and epileptic encephalopathy | 22.7273 | 7 | no |
DOID:0050951 | hereditary ataxia | 9.0909 | 5 | yes |
DOID:0050989 | episodic ataxia type 1 | 9.0909 | 7 | yes |
DOID:1289 | neurodegenerative disease | 9.0909 | 4 | yes |
DOID:963 | episodic ataxia | 9.0909 | 6 | yes |
DOID:0050703 | infancy electroclinical syndrome | 9.0909 | 7 | no |
DOID:0060169 | benign familial infantile epilepsy | 9.0909 | 8 | no |
Uniprot ID | Details | Highest evidence | Localizing into PSD | HPA (protein expression in neurons) |
---|---|---|---|---|
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 |
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 |
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 |
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 |
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 |
ADA22_HUMAN | [view entry] [view interactions] | Computational | yes | no |
SCN8A_HUMAN | [view entry] [view interactions] | Computational | yes | no |
KCAB3_HUMAN | [view interactions] | Computational | no | no |
KCNH2_HUMAN | [view interactions] | Computational | no | no |
CAC1A_HUMAN | [view interactions] | Computational | no | no |
LGI1_HUMAN | [view entry] [view interactions] | Computational | yes | no |
CNTP2_HUMAN | [view entry] [view interactions] | Computational | yes | yes |
SCN2A_HUMAN | [view entry] [view interactions] | Computational | yes | yes |
KCNH1_HUMAN | [view entry] [view interactions] | Computational | yes | yes |
STX1A_HUMAN | [view entry] [view interactions] | Computational | yes | yes |