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

Gene ID: 3736, updated on 22-Sep-2022

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
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Genomic context

See KCNA1 in Genome Data Viewer
Location:
12p13.32
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4909905..4918256)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4916952..4925303)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (5019071..5027422)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily A member 6 Neighboring gene Sharpr-MPRA regulatory region 168 Neighboring gene uncharacterized LOC100507560 Neighboring gene eukaryotic translation initiation factor 3 subunit F pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126782, MGC138385

Gene Ontology Provided by GOA

Process Evidence Code Pubs
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 chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
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 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 positive regulation of voltage-gated potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in potassium ion transport TAS
Traceable Author Statement
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
PubMed 
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
PubMed 
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
PubMed 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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

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.

Genomic

  1. NG_011815.1 RefSeqGene

    Range
    4999..13350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1297

mRNA and Protein(s)

  1. NM_000217.3NP_000208.2  potassium voltage-gated channel subfamily A member 1

    See identical proteins and their annotated locations for NP_000208.2

    Status: REVIEWED

    Source sequence(s)
    AC006063, DA236475, DA336089
    Consensus CDS
    CCDS8535.1
    UniProtKB/Swiss-Prot
    Q09470, Q3MIQ9
    Related
    ENSP00000371985.3, ENST00000382545.5
    Conserved Domains (2) summary
    pfam00520
    Location:166418
    Ion_trans; Ion transport protein
    pfam02214
    Location:39130
    BTB_2; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    4909905..4918256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    4916952..4925303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)