KCNA1 potassium voltage-gated channel subfamily A member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNA1provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily A member 1provided by HGNC
Primary source: HGNC:HGNC:6218
See related: Ensembl:ENSG00000111262 MIM:176260; AllianceGenome:HGNC:6218
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EA1; MK1; AEMK; HBK1; HUK1; MBK1; RBK1; KV1.1
Summary: 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]
Expression: Biased expression in brain (RPKM 6.1) and thyroid (RPKM 0.3) See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.32

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (4909905..4918256)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (4916952..4925303)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (5019071..5027422)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.
Title: Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.
Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer.
Title: Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer.
The mono-ADP-ribosyltransferase ARTD10 regulates the voltage-gated K(+) channel Kv1.1 through protein kinase C delta.
Title: The mono-ADP-ribosyltransferase ARTD10 regulates the voltage-gated K(+) channel Kv1.1 through protein kinase C delta.
Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.
Title: Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.
A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.
Title: A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Title: Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Title: Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine.
Title: Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine.
Kv1.1 is important for neural control of the heart and that Kcna1 deletion leads to cardiac dysfunction that appears to be brain-driven. [review]
Title: Kv1.1 channel subunits in the control of neurocardiac function.
Depletion of KCNA1 suppressed growth, proliferation, migration and invasion of HeLa cells
Title: Silencing of KCNA1 suppresses the cervical cancer development via mitochondria damage.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Episodic ataxia type 1 MedGen: C1719788 OMIM: 160120 GeneReviews: Hereditary Ataxia Overview, Episodic Ataxia Type 1	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

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

GDB:435448 (e-PCR)
- UniSTS:157227

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

GDB:435459 (e-PCR)
- UniSTS:157229

PMC20739P2 (e-PCR)
- UniSTS:271947

PMC20739P3 (e-PCR)
- UniSTS:271948

AB063024 (e-PCR)
- UniSTS:480097

RH78540 (e-PCR)
- UniSTS:46197

KCNA1_867 (e-PCR)
- UniSTS:277403

KCNA1_V167 (e-PCR)
- UniSTS:277403

NoName (e-PCR)
- UniSTS:480933

RH11273 (e-PCR)
- UniSTS:71596

NoName (e-PCR)
- UniSTS:485592

Gene Ontology Provided by GOA

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	IMP Inferred from Mutant Phenotype more info	PubMed
enables disordered domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
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 presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
enables voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed

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 cell communication by electrical coupling	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to magnesium ion	ISS Inferred from Sequence or Structural Similarity more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in detection of mechanical stimulus involved in sensory perception of touch	ISS Inferred from Sequence or Structural Similarity more info
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
involved_in magnesium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization during action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular process	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuronal action potential	ISS Inferred from Sequence or Structural Similarity 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in regulation of membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
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	IEA Inferred from Electronic Annotation 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 axon initial segment	IEA Inferred from Electronic Annotation more info
located_in axon terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in calyx of Held	IEA Inferred from Electronic Annotation more info
located_in cell junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation 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	ISS Inferred from Sequence or Structural Similarity 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 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	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity 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 perikaryon	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation 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	ISS Inferred from Sequence or Structural Similarity more info
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	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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

Names: potassium channel, voltage gated shaker related subfamily A, member 1; potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia); voltage-gated K(+) channel HuKI; voltage-gated potassium channel HBK1; 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.