InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: KCNA1

Summary

InnateDB Gene

IDBG-13300.6

Last Modified

2014-10-13 [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

IDBP-13250

potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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 12:4909905-4931361

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 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [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:0034765	regulation of ion transmembrane transport
GO:0051260	protein homooligomerization
GO:0055085	transmembrane transport
GO:0071805	potassium ion 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

ENSMUSG00000047976

View Gene Order

ENSBTAG00000016646

Not yet available

Pathways

NETPATH

REACTOME

REACT_75770

Voltage gated Potassium channels pathway

REACT_13685

Neuronal System pathway

REACT_75908

Potassium Channels pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.416139 Hs.595107 Hs.674156

RefSeq

NM_000217

HUGO

OMIM

CCDS

CCDS8535

HPRD

08885

IMGT

EMBL

GenPept

RNA Seq Atlas