Plasma membrane calcium-transporting ATPase 1 is a
plasma membrane ATPase, an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecule ...
that in humans is encoded by the ''ATP2B1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
It's a
transport protein
A transport protein (variously referred to as a transmembrane pump, transporter, escort protein, acid transport protein, cation transport protein, or anion transport protein) is a protein that serves the function of moving other materials within ...
, a
translocase, a
calcium pump .
The protein encoded by this gene belongs to the family of
P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular
calcium homeostasis. The mammalian
plasma membrane
The cell membrane (also known as the plasma membrane (PM) or cytoplasmic membrane, and historically referred to as the plasmalemma) is a biological membrane that separates and protects the interior of all cells from the outside environment (t ...
calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by
alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified.
ATP2B1 is a critical host factor supporting
cytotoxicity caused by ''
Chironex fleckeri'' (a type of
box jellyfish
Box jellyfish (class Cubozoa) are cnidaria
Cnidaria () is a phylum under kingdom Animalia containing over 11,000 species of aquatic animals found both in Fresh water, freshwater and Marine habitats, marine environments, predominantly the latt ...
) stings. Blocking ATP2B1 is believed to have therapeutic potential for treating pain and skin necrosis caused by these stings.
Clinical significance
Mutations of the ATP2B1 gene cause
autosomal dominant intellectual developmental disorder-66 (MRD66), a condition first described in 2022.
MRD66 presents with developmental delay, mild to moderately impaired intellectual development and mild speech delay. Some 50% of patients suffer from epilepsy, and some patients have
autism spectrum disorder
The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...
.
References
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Transport proteins
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