KCNMA1

Official Full Name

potassium calcium-activated channel subfamily M alpha 1

Organism

Homo sapiens

GeneID

3778

Background

This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]

Synonyms

SLO; BKTM; SLO1; hSlo; IEG16; LIWAS; MaxiK; PNKD3; SAKCA; mSLO1; CADEDS; KCa1.1; SLO-ALPHA; bA205K10.1;

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Detailed Information

Recent Research

The gene KCNMA1 (also named BK) encodes pore-forming potassium large-conductance calcium-activated channel proteins in the cell membrane.KCNMA1 is involved in the electrical activity of cells excitement,hormone secretion,neurotransmitter release, and contraction of blood vessels, the gastrointestinal tract,trachea, the uterus, the bladder and corpus cavernosum smooth muscle tissue, as well as in regulation of many other important physiological activities.

KCNMA1 was first reported as a disease gene in a large family with autosomal dominant generalized epilepsy and paroxysmal nonkine-sigenic dyskinesia, and in two unrelated children presenting with early-onset paroxysmal nonkine-sigenic dyskinesia and developmental delay carrying de novo mutations. Gain of function was proposed as the molecular mechanism that leads to increased excitability in such channel lesions. Neuroimaging findings were normal in all affected children. Its expression can cause functional ion channel-mediated intracellular K⁺ outflow, membrane hyperpolarization and a decrease in the excitability of cell.

The protein encoded by KCNMA1 represents the voltage and Ca²⁺-activated K⁺ channel, and is involved in the feedback inhibition of the action potential frequency and Ca²⁺ influx.New evidenceshave shown that Ca²⁺is closely related to cell apoptosis. Moreover, by bioinformatics analysis based on The Cancer Genome Atlas (TCGA), it has been found that KCNMA1 can regulate the expression of FAK (focal adhesion kinase), also known as PTK2, which is a non-receptor tyrosine kinase and moderate cancer proliferation, migration and survival. It may regulate cell apoptosis through the PI3K-AKT pathway. It is possible that the Ca²⁺ is involved in apoptosis by cooperating with PTK2.

In addition, BK channels can promote growth and spreading of breast, prostate and gliomas tumor. Some studies found that BK channels do not participate in glioma cell division and genetic knock-down of BKα assist osteosarcoma development. So the role of BK channel in human tumor may play a very complex one. It has been found that KCNMA1 was down-regulated in the tumor tissues due to the methylation of promoter and played a tumor suppressor role.

References:

He Y, et al. Transplantation KCNMA1 modified bone marrow‐mesenchymal stem cell therapy fordiabetes mellitus‐induced erectile dysfunction. Andrologia, 2014, 46(5):479-486.
Ma G, et al. KCNMA1 cooperating with PTK2 is a novel tumor suppressor in gastric cancer and is associated with disease outcome. Molecular Cancer, 2017, 16(1):46.
Tabarki B, et al. HomozygousKCNMA1mutation as a cause of cerebellar atrophy, developmental delay and seizures. Human Genetics, 2016, 135(11):1295-1298.

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