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Aliases for KCNA1 Gene

Aliases for KCNA1 Gene

  • Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 1 2 3
  • Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 1 (Episodic Ataxia With Myokymia) 2 3
  • Voltage-Gated Potassium Channel Subunit Kv1.1 3 4
  • Voltage-Gated Potassium Channel HBK1 3 4
  • Voltage-Gated K(+) Channel HuKI 3 4
  • AEMK 3 6
  • EA1 3 6
  • Potassium Voltage-Gated Channel Subfamily A Member 1 3
  • KV1.1 3
  • HBK1 3
  • HUK1 3
  • MBK1 3
  • RBK1 3
  • MK1 3

External Ids for KCNA1 Gene

Previous Symbols for KCNA1 Gene

  • AEMK

Summaries for KCNA1 Gene

Entrez Gene Summary for KCNA1 Gene

  • 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]

GeneCards Summary for KCNA1 Gene

KCNA1 (Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 1) is a Protein Coding gene. Diseases associated with KCNA1 include episodic ataxia/myokymia syndrome and continuous muscle fiber activity hereditary. Among its related pathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. GO annotations related to this gene include delayed rectifier potassium channel activity and potassium ion transmembrane transporter activity. An important paralog of this gene is KCNA10.

UniProtKB/Swiss-Prot for KCNA1 Gene

  • 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:19903818). Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability (PubMed:17156368). 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:19912772). 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:12077175, PubMed:17156368). 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:12077175, PubMed:17156368). 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:19912772, PubMed:19968958, PubMed:19307729, PubMed:19903818). In contrast, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed:17156368). 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 (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) release (By similarity). 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 (By similarity). Required for normal neuromuscular responses (PubMed:11026449, PubMed:17136396). 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 (By similarity). Required for normal responses to auditory stimuli and precise location of sound sources, but not for sound perception (By similarity). The use of toxins that block specific channels suggest that it contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Required for normal postnatal brain development and normal proliferation of neuronal precursor cells in the brain (By similarity). 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:23903368, PubMed:19307729).

Tocris Summary for KCNA1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNA1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNA1 Gene

Genomics for KCNA1 Gene

Genomic Location for KCNA1 Gene

Start:
4,909,905 bp from pter
End:
4,931,361 bp from pter
Size:
21,457 bases
Orientation:
Plus strand

Genomic View for KCNA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNA1 Gene

Regulatory Elements for KCNA1 Gene

Proteins for KCNA1 Gene

  • Protein details for KCNA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q09470-KCNA1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily A member 1
    Protein Accession:
    Q09470
    Secondary Accessions:
    • A6NM83
    • Q3MIQ9

    Protein attributes for KCNA1 Gene

    Size:
    495 amino acids
    Molecular mass:
    56466 Da
    Quaternary structure:
    • Homotetramer and heterotetramer with other channel-forming alpha subunits, such as KCNA2, KCNA4, KCNA5, KCNA6 and KCNA7 (PubMed:12077175, PubMed:17156368). Channel activity is regulated by interaction with the beta subunits KCNAB1 and KCNAB2 (PubMed:12077175, PubMed:17156368). Identified in a complex with KCNA2 and KCNAB2 (PubMed:11086297). Interacts (via C-terminus) with the PDZ domains of DLG1, DLG2 and DLG4 (By similarity). Interacts with LGI1 within a complex containing LGI1, KCNA4 and KCNAB1 (By similarity). Interacts (via N-terminus) with STX1A; this promotes channel inactivation (By similarity). Interacts (via N-terminus) with the heterodimer formed by GNB1 and GNG2; this promotes channel inactivation (By similarity). Can interact simultaneously with STX1A and the heterodimer formed by GNB1 and GNG2 (By similarity). Interacts (via cytoplasmic N-terminal domain) with KCNRG; this inhibits channel activity (PubMed:19968958). Interacts with ANK3; this inhibits channel activity (PubMed:23903368).
    Miscellaneous:
    • The delay or D-type current observed in hippocampus pyramidal neurons is probably mediated by potassium channels containing KCNA2 plus KCNA1 or other family members. It is activated at about -50 mV, i.e. below the action potential threshold, and is characterized by slow inactivation, extremely slow recovery from inactivation, sensitivity to dendrotoxin (DTX) and to 4-aminopyridine (4-AP).

    Three dimensional structures from OCA and Proteopedia for KCNA1 Gene

neXtProt entry for KCNA1 Gene

Proteomics data for KCNA1 Gene at MOPED

Post-translational modifications for KCNA1 Gene

  • N-glycosylated.
  • Palmitoylated on Cys-243; which may be required for membrane targeting.
  • Phosphorylated on tyrosine residues. Phosphorylation increases in response to NRG1; this inhibits channel activity (By similarity). Phosphorylation at Ser-446 regulates channel activity by down-regulating expression at the cell membrane (PubMed:23774215).
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn207

Other Protein References for KCNA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNA1 Gene

Domains for KCNA1 Gene

Gene Families for KCNA1 Gene

HGNC:
  • KCN :Potassium channels
  • Kv :Voltage-gated ion channels / Potassium channels
IUPHAR :

UniProtKB/Swiss-Prot:

KCNA1_HUMAN
Domain:
  • The cytoplasmic N-terminus is important for tetramerization and for interaction with the beta subunits that promote rapid channel closure.:
    • Q09470
  • The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region.:
    • Q09470
Family:
  • Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.1/KCNA1 sub-subfamily.:
    • Q09470
genes like me logo Genes that share domains with KCNA1: view

Function for KCNA1 Gene

Molecular function for KCNA1 Gene

GENATLAS Biochemistry: potassium voltage-gated channel,Drosophila shaker-related subfamily,member 1 (mouse Kv1.1 homolog),localized in terminal and juxtaparanodal regions of neurons
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by 1.1 mM 4-aminopyridine (4-AP) and by 20mM tetraethylammonium (TEA), but not by charybdotoxin (CTX)(PubMed:19912772). Inhibited by dendrotoxin (DTX) (PubMed:19307729).
UniProtKB/Swiss-Prot Function: 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:19903818). Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability (PubMed:17156368). 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:19912772). 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:12077175, PubMed:17156368). 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:12077175, PubMed:17156368). 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:19912772, PubMed:19968958, PubMed:19307729, PubMed:19903818). In contrast, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed:17156368). 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 (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) release (By similarity). 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 (By similarity). Required for normal neuromuscular responses (PubMed:11026449, PubMed:17136396). 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 (By similarity). Required for normal responses to auditory stimuli and precise location of sound sources, but not for sound perception (By similarity). The use of toxins that block specific channels suggest that it contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Required for normal postnatal brain development and normal proliferation of neuronal precursor cells in the brain (By similarity). 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:23903368, PubMed:19307729).

Gene Ontology (GO) - Molecular Function for KCNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005249 voltage-gated potassium channel activity IDA 19912772
GO:0005251 delayed rectifier potassium channel activity IDA 19912772
GO:0005267 potassium channel activity TAS 7842011
GO:0005515 protein binding IPI 11937501
genes like me logo Genes that share ontologies with KCNA1: view
genes like me logo Genes that share phenotypes with KCNA1: view

Animal Models for KCNA1 Gene

MGI Knock Outs for KCNA1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNA1 Gene

Localization for KCNA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNA1 Gene

Cell membrane; Multi-pass membrane protein. Membrane. Cell projection, axon. Cytoplasmic vesicle. Perikaryon. Endoplasmic reticulum. Cell projection, dendrite. Cell junction. Cell junction, synapse. Cell junction, synapse, presynaptic cell membrane. Note=Homotetrameric KCNA1 is primarily located in the endoplasmic reticulum. Interaction with KCNA2 and KCNAB2 or with KCNA4 and KCNAB2 promotes expression at the cell membrane (By similarity). Detected at axon terminals (By similarity). {ECO:0000250 UniProtKB:P10499, ECO:0000250 UniProtKB:P16388}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNA1 Gene COMPARTMENTS Subcellular localization image for KCNA1 gene
Compartment Confidence
plasma membrane 4
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for KCNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum ISS --
GO:0005829 cytosol ISS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP 19912772
GO:0008076 voltage-gated potassium channel complex IDA 11086297
genes like me logo Genes that share ontologies with KCNA1: view

Pathways for KCNA1 Gene

genes like me logo Genes that share pathways with KCNA1: view

Pathways by source for KCNA1 Gene

1 Qiagen pathway for KCNA1 Gene

Gene Ontology (GO) - Biological Process for KCNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006813 potassium ion transport TAS 8845167
GO:0006937 regulation of muscle contraction ISS --
GO:0007268 synaptic transmission TAS --
GO:0010644 cell communication by electrical coupling ISS --
genes like me logo Genes that share ontologies with KCNA1: view

Compounds for KCNA1 Gene

(5) Tocris Compounds for KCNA1 Gene

Compound Action Cas Number
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
ICA 110381 KV7.2/7.3 activator; displays anticonvulsant properties [325457-99-6]
JNJ 303 Potent and selective IKs blocker [878489-28-2]
ShK-Dap22 Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro [220384-25-8]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]

(1) HMDB Compounds for KCNA1 Gene

Compound Synonyms Cas Number PubMed IDs
Potassium
  • K+
7440-09-7

(8) Drugbank Compounds for KCNA1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amitriptyline
  • Amitriprolidine
50-48-6 target inhibitor
Dalfampridine
  • 4-Aminopyridine
504-24-5 target antagonist
Desflurane
  • Desflurano [INN-Spanish]
57041-67-5 target inducer
Enflurane
  • Anesthetic 347
13838-16-9 target inducer
Isoflurane
26675-46-7 target inducer

(3) IUPHAR Ligand for KCNA1 Gene

Ligand Type Action Affinity Pubmed IDs
alpha-dendrotoxin Inhibitor None
tetraethylammonium Inhibitor None
margatoxin Inhibitor None

(3) Novoseek inferred chemical compound relationships for KCNA1 Gene

Compound -log(P) Hits PubMed IDs
potassium 75.1 27
tetraethylammonium 41.7 1
calcium 16.5 1
genes like me logo Genes that share compounds with KCNA1: view

Transcripts for KCNA1 Gene

mRNA/cDNA for KCNA1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNA1 Gene

Potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNA1 Gene

No ASD Table

Relevant External Links for KCNA1 Gene

GeneLoc Exon Structure for
KCNA1
ECgene alternative splicing isoforms for
KCNA1

Expression for KCNA1 Gene

mRNA expression in normal human tissues for KCNA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNA1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (11.4), Brain - Cerebellum (8.7), Brain - Frontal Cortex (BA9) (4.8), Brain - Putamen (basal ganglia) (4.4), Brain - Nucleus accumbens (basal ganglia) (4.1), and Brain - Caudate (basal ganglia) (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNA1 Gene

SOURCE GeneReport for Unigene cluster for KCNA1 Gene Hs.416139

mRNA Expression by UniProt/SwissProt for KCNA1 Gene

Q09470-KCNA1_HUMAN
Tissue specificity: Detected adjacent to nodes of Ranvier in juxtaparanodal zones in spinal cord nerve fibers, but also in paranodal regions in some myelinated spinal cord axons (at protein level) (PubMed:11086297). Detected in the islet of Langerhans (PubMed:21483673).
genes like me logo Genes that share expressions with KCNA1: view

Orthologs for KCNA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNA1 36
  • 99.39 (n)
  • 99.8 (a)
KCNA1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNA1 36
  • 93.4 (n)
  • 96.57 (a)
KCNA1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNA1 36
  • 96.36 (n)
  • 98.79 (a)
KCNA1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcna1 36
  • 93.33 (n)
  • 98.38 (a)
Kcna1 16
Kcna1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNA1 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNA1 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcna1 36
  • 92.86 (n)
  • 98.18 (a)
chicken
(Gallus gallus)
Aves KCNA1 36
  • 83.3 (n)
  • 92.87 (a)
KCNA1 37
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNA1 37
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia kcna1-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492822 36
  • 80.57 (n)
  • 91.41 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.16730 36
kcna1 37
  • 86 (a)
OneToMany
KCNA1A 37
  • 84 (a)
OneToMany
LOC795942 36
  • 76.26 (n)
  • 87.14 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sh 38
  • 74 (a)
Species with no ortholog for KCNA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNA1 Gene

ENSEMBL:
Gene Tree for KCNA1 (if available)
TreeFam:
Gene Tree for KCNA1 (if available)

Paralogs for KCNA1 Gene

Selected SIMAP similar genes for KCNA1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNA1: view

Variants for KCNA1 Gene

Sequence variations from dbSNP and Humsavar for KCNA1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1013783 -- 4,907,950(-) CTCTT(C/G)TTCTT upstream-variant-2KB
rs1045892 -- 4,917,501(+) GCCTT(C/G)GGATT utr-variant-3-prime
rs1048500 Likely benign 4,912,062(-) ATGAT(A/G)CACAG synonymous-codon, reference
rs1063289 -- 4,911,456(-) GCCTG(C/G)CGGGG synonymous-codon, reference
rs1558329 -- 4,909,338(-) GCGGT(A/G)CTAAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KCNA1 Gene

Variant ID Type Subtype PubMed ID
nsv523628 CNV Gain 19592680

Relevant External Links for KCNA1 Gene

HapMap Linkage Disequilibrium report
KCNA1
Human Gene Mutation Database (HGMD)
KCNA1

Disorders for KCNA1 Gene

(1) OMIM Diseases for KCNA1 Gene (176260)

UniProtKB/Swiss-Prot

KCNA1_HUMAN
  • Episodic ataxia 1 (EA1) [MIM:160120]: 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. {ECO:0000269 PubMed:10355668, ECO:0000269 PubMed:11013453, ECO:0000269 PubMed:11026449, ECO:0000269 PubMed:15532032, ECO:0000269 PubMed:7842011, ECO:0000269 PubMed:8541859, ECO:0000269 PubMed:8871592, ECO:0000269 PubMed:9600245}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myokymia isolated 1 (MK1) [MIM:160120]: 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. {ECO:0000269 PubMed:11026449, ECO:0000269 PubMed:17136396, ECO:0000269 PubMed:19307729}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for KCNA1 Gene

(12) Novoseek inferred disease relationships for KCNA1 Gene

Disease -log(P) Hits PubMed IDs
episodic ataxia, type 1 94.8 6
neuromyotonia 82 4
familial benign neonatal convulsions 70.3 1
spinocerebellar ataxia type 6 69.3 1
myoclonic epilepsy juvenile 65.2 2

Relevant External Links for KCNA1

Genetic Association Database (GAD)
KCNA1
Human Genome Epidemiology (HuGE) Navigator
KCNA1
genes like me logo Genes that share disorders with KCNA1: view

Publications for KCNA1 Gene

  1. Molecular cloning, characterization, and genomic localization of a human potassium channel gene. (PMID: 1349297) Curran M.E. … Keating M.T. (Genomics 1992) 2 3 23
  2. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. (PMID: 7842011) Browne D.L. … Litt M. (Nat. Genet. 1994) 3 4 23
  3. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. (PMID: 10355668) Zuberi S.M. … Hanna M.G. (Brain 1999) 3 4 23
  4. Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. (PMID: 8871592) Comu S. … Narayanan V. (Ann. Neurol. 1996) 3 4 23
  5. Three novel KCNA1 mutations in episodic ataxia type I families. (PMID: 9600245) Scheffer H. … Buys C.H.C.M. (Hum. Genet. 1998) 3 4 23

Products for KCNA1 Gene

Sources for KCNA1 Gene

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