InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KCNA1

Summary

InnateDB Protein

IDBP-13250.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KCNA1

Protein 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 Protein

ENSP00000371985

InnateDB Gene

IDBG-13300 (KCNA1)

Protein Structure

UniProt Annotation

Function

Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Episodic ataxia 1 (EA1) [MIM:160120]: An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent. {ECO:0000269PubMed:10355668, ECO:0000269PubMed:11013453, ECO:0000269PubMed:11026449, ECO:0000269PubMed:15532032, ECO:0000269PubMed:7842011, ECO:0000269PubMed:8541859, ECO:0000269PubMed:8871592, ECO:0000269PubMed:9600245}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myokymia isolated 1 (MK1) [MIM:160120]: A condition characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have no grave significance. {ECO:0000269PubMed:11026449, ECO:0000269PubMed:17136396}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000210 BTB/POZ-like
IPR003091 Potassium channel
IPR003131 Potassium channel tetramerisation-type BTB domain
IPR003968 Potassium channel, voltage dependent, Kv
IPR003972 Potassium channel, voltage dependent, Kv1
IPR004048 Potassium channel, voltage dependent, Kv1.1
IPR004050 Potassium channel, voltage dependent, Kv1.3
IPR005821 Ion transport domain
IPR011333 BTB/POZ fold
IPR013099 Two pore domain potassium channel domain

PFAM

PF02214
PF00520
PF07885

PRINTS

PR00169
PR01491
PR01496
PR01508
PR01510

PIRSF

SMART

SM00225

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt