Homo sapiens Gene: KCNA1
Summary
InnateDB Gene IDBG-13300.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol KCNA1
Gene Name potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
Synonyms AEMK; EA1; HBK1; HUK1; KV1.1; MBK1; MK1; RBK1;
Species Homo sapiens
Ensembl Gene ENSG00000111262
Encoded Proteins
potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
Protein Structure
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:5019071-5040527
Strand Forward strand
Band p13.32
Transcripts
ENST00000382545 ENSP00000371985
ENST00000541095
ENST00000543874
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005267 potassium channel activity
GO:0005515 protein binding
GO:0015079 potassium ion transmembrane transporter activity
Biological Process
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0007268 synaptic transmission
GO:0051260 protein homooligomerization
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0030425 dendrite
GO:0043025 neuronal cell body
GO:0044224 juxtaparanode region of axon
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt Q09470
TrEMBL
UniProt Splice Variant
Entrez Gene 3736
UniGene Hs.416139 Hs.595107 Hs.674156
RefSeq NM_000217
HUGO 6218
OMIM 176260
CCDS CCDS8535
HPRD 08885
IMGT
EMBL AC006063 BC101733 BC112180 CH471116 L02750
GenPept AAA36139 AAI01734 AAI12181 EAW88833
ImmGen KCNA1 (murine)
RNA Seq Atlas 3736