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Aliases for KCNA1 Gene

Aliases for KCNA1 Gene

  • Potassium Voltage-Gated Channel Subfamily A Member 1 2 3 5
  • 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
  • Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 1 3
  • KV1.1 3
  • HBK1 3
  • HUK1 3
  • MBK1 3
  • RBK1 3
  • AEMK 3
  • EA1 3
  • MK1 3

External Ids for KCNA1 Gene

Previous HGNC Symbols for KCNA1 Gene

  • AEMK

Previous GeneCards Identifiers for KCNA1 Gene

  • GC12P004758
  • GC12P004912
  • GC12P004891
  • GC12P004892
  • GC12P004894
  • GC12P005019

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 Voltage-Gated Channel Subfamily A Member 1) is a Protein Coding gene. Diseases associated with KCNA1 include Episodic Ataxia/Myokymia Syndrome and Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type. Among its related pathways are Potassium Channels and Dopamine-DARPP32 Feedback onto cAMP Pathway. GO annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNA2.

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 alpha-subunits contain a single pore-forming region and combine to form tetramers.

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

Regulatory Elements for KCNA1 Gene

Enhancers for KCNA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around KCNA1 on UCSC Golden Path with GeneCards custom track

Promoters for KCNA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for KCNA1 Gene

Chromosome:
12
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

Genes around KCNA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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).
  • Glycosylation at Asn 207
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNA1 Gene

Domains & Families for KCNA1 Gene

Gene Families for KCNA1 Gene

Suggested Antigen Peptide Sequences for KCNA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q09470

UniProtKB/Swiss-Prot:

KCNA1_HUMAN :
  • The cytoplasmic N-terminus is important for tetramerization and for interaction with the beta subunits that promote rapid channel closure.
  • Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.1/KCNA1 sub-subfamily.
Domain:
  • The cytoplasmic N-terminus is important for tetramerization and for interaction with the beta subunits that promote rapid channel closure.
  • 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.
Family:
  • Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.1/KCNA1 sub-subfamily.
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 20 mM 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:0005249 voltage-gated potassium channel activity IEA,IDA 19912772
GO:0005251 delayed rectifier potassium channel activity IEA,IDA 19912772
GO:0005267 potassium channel activity TAS 7842011
GO:0005515 protein binding IEA,IPI 11937501
GO:0015079 potassium ion transmembrane transporter activity TAS 8845167
genes like me logo Genes that share ontologies with KCNA1: view
genes like me logo Genes that share phenotypes with KCNA1: view

Human Phenotype Ontology for KCNA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNA1 Gene

MGI Knock Outs for KCNA1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
endoplasmic reticulum 5
plasma membrane 5
cytosol 4
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for KCNA1 Gene

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

Pathways & Interactions 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:0001964 startle response IEA --
GO:0006813 potassium ion transport TAS 8845167
GO:0006937 regulation of muscle contraction IEA,ISS --
GO:0007268 chemical synaptic transmission TAS 7842011
GO:0007405 neuroblast proliferation IEA --
genes like me logo Genes that share ontologies with KCNA1: view

No data available for SIGNOR curated interactions for KCNA1 Gene

Drugs & Compounds for KCNA1 Gene

(16) Drugs for KCNA1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker, blocker, Target, antagonist potassium channel-blocking agent, Non-selective KV channel blocker 67
Desflurane Approved Pharma antagonist, Target, inducer 132
Enflurane Approved, Vet_approved Pharma Target, inducer 2
Isoflurane Approved, Vet_approved Pharma agonist, Target, inducer 156
Sevoflurane Approved, Vet_approved Pharma antagonist, Target, inducer 453

(2) Additional Compounds for KCNA1 Gene - From: IUPHAR and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alpha-dendrotoxin
Inhibitor
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNA1 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker 504-24-5
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 113559-13-0
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 (x11.4), Brain - Cerebellum (x8.7), Brain - Frontal Cortex (BA9) (x4.8), Brain - Putamen (basal ganglia) (x4.4), Brain - Nucleus accumbens (basal ganglia) (x4.1), and Brain - Caudate (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for KCNA1 Gene

This gene is overexpressed in Frontal cortex (54.7) and Spinal cord (14.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNA1 Gene



Protein tissue co-expression partners for KCNA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNA1 Gene:

KCNA1

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 expression patterns with KCNA1: view

Primer Products

Orthologs for KCNA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNA1 34
  • 93.4 (n)
  • 96.57 (a)
KCNA1 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNA1 34
  • 96.36 (n)
  • 98.79 (a)
KCNA1 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcna1 34
  • 93.33 (n)
  • 98.38 (a)
Kcna1 16
Kcna1 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNA1 34
  • 99.39 (n)
  • 99.8 (a)
KCNA1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcna1 34
  • 92.86 (n)
  • 98.18 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNA1 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNA1 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNA1 34
  • 83.3 (n)
  • 92.87 (a)
KCNA1 35
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNA1 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492822 34
  • 80.57 (n)
  • 91.41 (a)
African clawed frog
(Xenopus laevis)
Amphibia kcna1-A 34
zebrafish
(Danio rerio)
Actinopterygii Dr.16730 34
LOC795942 34
  • 76.26 (n)
  • 87.14 (a)
kcna1 35
  • 86 (a)
OneToMany
KCNA1A 35
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sh 36
  • 74 (a)
Species where no ortholog for KCNA1 was found in the sources mined by GeneCards:
  • 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

(25) 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
rs104894349 Episodic ataxia 1 (EA1) 4,911,898(+) TCTCC(G/T)TCATG reference, missense
VAR_001509 Episodic ataxia 1 (EA1)
rs104894354 Episodic ataxia 1 (EA1) 4,912,054(+) TGGAA(A/G)CGCTG reference, missense
rs104894348 Episodic ataxia 1 (EA1) 4,912,093(+) TGGTG(A/C)GCTTC reference, missense
rs104894356 Episodic ataxia 1 (EA1) 4,912,123(+) CGGAC(A/T)TCTTC reference, missense

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

Variant ID Type Subtype PubMed ID
esv3628373 CNV gain 21293372
esv3628376 CNV loss 21293372
esv3628377 CNV gain 21293372
nsv1040098 CNV gain 25217958
nsv1070503 CNV deletion 25765185
nsv483060 CNV loss 15286789
nsv523628 CNV gain 19592680

Variation tolerance for KCNA1 Gene

Residual Variation Intolerance Score: 8.32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNA1 Gene

Human Gene Mutation Database (HGMD)
KCNA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNA1 Gene

Disorders for KCNA1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for KCNA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KCNA1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for KCNA1

Genetic Association Database (GAD)
KCNA1
Human Genome Epidemiology (HuGE) Navigator
KCNA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNA1
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Publications for KCNA1 Gene

  1. A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. (PMID: 19307729) Glaudemans B. … Bindels R.J. (J. Clin. Invest. 2009) 3 4 22 65
  2. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. (PMID: 17136396) Chen H. … Hisama F.M. (Neurogenetics 2007) 3 4 22 65
  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 22 65
  4. Three novel KCNA1 mutations in episodic ataxia type I families. (PMID: 9600245) Scheffer H. … Buys C.H.C.M. (Hum. Genet. 1998) 3 4 22 65
  5. 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 22 65

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