InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KCNMA1

Summary

InnateDB Protein

IDBP-79616.7

Last Modified

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

Gene Symbol

KCNMA1

Protein Name

potassium large conductance calcium-activated channel, subfamily M, alpha member 1

Synonyms

bA205K10.1; BKTM; KCa1.1; MaxiK; mSLO1; SAKCA; SLO; SLO-ALPHA; SLO1;

Species

Homo sapiens

Ensembl Protein

ENSP00000361517

InnateDB Gene

IDBG-79612 (KCNMA1)

Protein Structure

UniProt Annotation

Function

Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX).

Subcellular Localization

Cell membrane {ECO:0000269PubMed:20693285, ECO:0000269PubMed:22399288}; Multi-pass membrane protein {ECO:0000269PubMed:20693285, ECO:0000269PubMed:22399288}.

Disease Associations

Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM:609446]: Epilepsy is one of the most common and debilitating neurological disorders. Paroxysmal dyskinesias are neurological disorders characterized by sudden, unpredictable, disabling attacks of involuntary movement often requiring life-long treatment. The coexistence of epilepsy and paroxysmal dyskinesia in the same individual or family is an increasingly recognized phenomenon. Patients manifest absence seizures, generalized tonic- clonic seizures, paroxysmal nonkinesigenic dyskinesia, involuntary dystonic or choreiform movements. Onset is usually in childhood and patients may have seizures only, dyskinesia only, or both. {ECO:0000269PubMed:15937479}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Except in myocytes, it is almost ubiquitously expressed. {ECO:0000269PubMed:11880513}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	16 [view]
Protein-Protein	16 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0015269	calcium-activated potassium channel activity

Biological Process

GO:0006811	ion transport
GO:0006813	potassium ion transport
GO:0055085	transmembrane transport

Cellular Component

GO:0016020

membrane

Protein Structure and Domains

PDB ID

InterPro

IPR003091 Potassium channel
IPR003148 Regulator of K+ conductance, N-terminal
IPR003929 Potassium channel, calcium-activated, BK, alpha subunit
IPR005821 Ion transport domain
IPR013099 Two pore domain potassium channel domain

PFAM

PF02254
PF03493
PF00520
PF07885

PRINTS

PR00169
PR01449

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

PhosphoSite