Kcna1 potassium voltage-gated channel, shaker-related subfamily, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kcna1provided by MGI
Official Full Name: potassium voltage-gated channel, shaker-related subfamily, member 1provided by MGI
Primary source: MGI:MGI:96654
See related: Ensembl:ENSMUSG00000047976 AllianceGenome:MGI:96654
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MBK1; Mk-1; Shak; Kv1.1; mceph; Kca1-1
Summary: Enables delayed rectifier potassium channel activity. Involved in several processes, including cellular response to magnesium ion; detection of mechanical stimulus involved in sensory perception; and nervous system development. Located in several cellular components, including axon; cell surface; and perikaryon. Part of voltage-gated potassium channel complex. Is active in axon initial segment. Is expressed in several structures, including adipose tissue; alimentary system; genitourinary system; immune system; and nervous system. Used to study epilepsy; episodic ataxia type 1; and temporal lobe epilepsy. Human ortholog(s) of this gene implicated in episodic ataxia type 1. Orthologous to human KCNA1 (potassium voltage-gated channel subfamily A member 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 30.6), cortex adult (RPKM 12.5) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 6 F3; 6 61.57 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (126613426..126622764, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (126636463..126645801, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of functional System x-c uncouples aberrant postnatal neurogenesis from epileptogenesis in the hippocampus of Kcna1-KO mice.
Title: Loss of functional System x-c uncouples aberrant postnatal neurogenesis from epileptogenesis in the hippocampus of Kcna1-KO mice.
Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2.
Title: Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2.
Adult-onset hypothyroidism causes mechanical hypersensitivity due to peripheral nerve hyperexcitability based on voltage-gated potassium channel downregulation in male mice.
Title: Adult-onset hypothyroidism causes mechanical hypersensitivity due to peripheral nerve hyperexcitability based on voltage-gated potassium channel downregulation in male mice.
Kv1.1 potassium channel subunit deficiency alters ventricular arrhythmia susceptibility, contractility, and repolarization.
Title: Kv1.1 potassium channel subunit deficiency alters ventricular arrhythmia susceptibility, contractility, and repolarization.
Kv1.1 subunits localize to cardiorespiratory brain networks in mice where their absence induces astrogliosis and microgliosis.
Title: Kv1.1 subunits localize to cardiorespiratory brain networks in mice where their absence induces astrogliosis and microgliosis.
Kv1.1 channels mediate network excitability and feed-forward inhibition in local amygdala circuits.
Title: K(v)1.1 channels mediate network excitability and feed-forward inhibition in local amygdala circuits.
Kv1.1 channels regulate early postnatal neurogenesis in mouse hippocampus via the TrkB signaling pathway.
Title: Kv1.1 channels regulate early postnatal neurogenesis in mouse hippocampus via the TrkB signaling pathway.
Kv1.1 deficiency alters repetitive and social behaviors in mice and rescues autistic-like behaviors due to Scn2a haploinsufficiency.
Title: Kv1.1 deficiency alters repetitive and social behaviors in mice and rescues autistic-like behaviors due to Scn2a haploinsufficiency.
Neuron-specific Kv1.1 deficiency is sufficient to cause epilepsy, premature death, and cardiorespiratory dysregulation.
Title: Neuron-specific Kv1.1 deficiency is sufficient to cause epilepsy, premature death, and cardiorespiratory dysregulation.
Progressive cardiorespiratory dysfunction in Kv1.1 knockout mice may provide temporal biomarkers of pending sudden unexpected death in epilepsy (SUDEP): The contribution of orexin.
Title: Progressive cardiorespiratory dysfunction in Kv1.1 knockout mice may provide temporal biomarkers of pending sudden unexpected death in epilepsy (SUDEP): The contribution of orexin.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Spontaneous (1) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Kcna1 (e-PCR), detects polymorphism
- UniSTS:143651

UniSTS:143652 (e-PCR)
- UniSTS:143652

Kcna1 (e-PCR), detects polymorphism
- UniSTS:143652

D6Tem3 (e-PCR), detects polymorphism
- UniSTS:142635

GDB:435453 (e-PCR)
- UniSTS:157228

NoName (e-PCR)
- UniSTS:224835

PMC20739P2 (e-PCR)
- UniSTS:271947

PMC20739P3 (e-PCR)
- UniSTS:271948

AI840627 (e-PCR)
- UniSTS:165489

RH11273 (e-PCR)
- UniSTS:71596

RH70531 (e-PCR)
- UniSTS:75451

RH131723 (e-PCR)
- UniSTS:215006

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables delayed rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
enables disordered domain specific binding	IEA Inferred from Electronic Annotation more info
enables disordered domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
enables voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	ISO Inferred from Sequence Orthology more info
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	ISO Inferred from Sequence Orthology more info
enables voltage-gated potassium channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon development	IEA Inferred from Electronic Annotation more info
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
involved_in cell communication by electrical coupling	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to magnesium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in corpus callosum development	IEA Inferred from Electronic Annotation more info
involved_in detection of mechanical stimulus involved in sensory perception of pain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of mechanical stimulus involved in sensory perception of touch	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hippocampus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in magnesium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in magnesium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane repolarization during action potential	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane repolarization during action potential	ISO Inferred from Sequence Orthology more info
involved_in neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular process	ISO Inferred from Sequence Orthology more info
involved_in neuronal action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuronal action potential	ISO Inferred from Sequence Orthology more info
involved_in neuronal action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuronal signal transduction	ISO Inferred from Sequence Orthology more info
involved_in neuronal signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in optic nerve development	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in protein localization	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in regulation of muscle contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in startle response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in startle response	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in axon initial segment	IDA Inferred from Direct Assay more info	PubMed
located_in axon terminus	IDA Inferred from Direct Assay more info	PubMed
located_in calyx of Held	IEA Inferred from Electronic Annotation more info
is_active_in calyx of Held	ISO Inferred from Sequence Orthology more info
located_in cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in juxtaparanode region of axon	IBA Inferred from Biological aspect of Ancestor more info
located_in juxtaparanode region of axon	IDA Inferred from Direct Assay more info	PubMed
located_in juxtaparanode region of axon	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in paranode region of axon	IBA Inferred from Biological aspect of Ancestor more info
located_in paranode region of axon	IDA Inferred from Direct Assay more info	PubMed
located_in paranode region of axon	ISO Inferred from Sequence Orthology more info
located_in paranode region of axon	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
part_of potassium channel complex	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated potassium channel complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: potassium voltage-gated channel subfamily A member 1

Names: MKI; brain potassium channel protein-1; megencephaly; voltage-gated potassium channel subunit Kv1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010595.3 → NP_034725.3 potassium voltage-gated channel subfamily A member 1

See identical proteins and their annotated locations for NP_034725.3

Status: VALIDATED

Source sequence(s)

AC079438

Consensus CDS

CCDS20555.1

UniProtKB/Swiss-Prot

P16388

UniProtKB/TrEMBL

Q2KHP0

Related

ENSMUSP00000055225.4, ENSMUST00000055168.5

Conserved Domains (2) summary

cl38908
Location:37 → 163

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

pfam00520
Location:166 → 418

Ion_trans; Ion transport protein