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KCNA1 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) [ Homo sapiens (human) ]

Gene ID: 3736, updated on 11-Sep-2014
Official Symbol
KCNA1provided by HGNC
Official Full Name
potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)provided by HGNC
Primary source
HGNC:HGNC:6218
See related
Ensembl:ENSG00000111262; HPRD:08885; MIM:176260; Vega:OTTHUMG00000044398
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]
See KCNA1 in Epigenomics, MapViewer
Location:
12p13.32
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (4909907..4918256)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (5019073..5027422)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase 8 Neighboring gene potassium voltage-gated channel, shaker-related subfamily, member 6 Neighboring gene uncharacterized LOC102723667 Neighboring gene uncharacterized LOC100507560

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126782, MGC138385

Gene Ontology Provided by GOA

Function Evidence Code Pubs
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
potassium channel activity TAS
Traceable Author Statement
more info
PubMed 
potassium ion transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
juxtaparanode region of axon ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
potassium voltage-gated channel subfamily A member 1
Names
potassium voltage-gated channel subfamily A member 1
voltage-gated K(+) channel HuKI
voltage-gated potassium channel HBK1
voltage-gated potassium channel subunit Kv1.1

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 

    Range
    5001..13350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_000208.2

    Status: REVIEWED

    Source sequence(s)
    AC006063, DA236475
    Consensus CDS
    CCDS8535.1
    UniProtKB/Swiss-Prot
    Q09470
    Related
    ENSP00000371985, OTTHUMP00000041572, ENST00000382545, OTTHUMT00000103343
    Conserved Domains (3) summary
    pfam00520
    Location:223407
    Ion_trans; Ion transport protein
    pfam02214
    Location:39130
    BTB_2; BTB/POZ domain
    pfam07885
    Location:332408
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    4909907..4918256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    4875853..4884200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    5018738..5027087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)