Target intelligence / Profile preview

EF-hand domain-containing protein D1 (EFHD1)

Target
EFHD1
Molecular classification
Other, Calcium-binding protein (EF-hand superfamily), Actin-binding protein
01

Overview

EF-hand domain-containing protein D1 (EFHD1) is a mitochondrial calcium-binding protein of the EF-hand superfamily, structurally homologous to EFHD2 and allograft inflammatory factor-1 (AIF-1). EFHD1 binds calcium and zinc ions via its EF-hand motifs and contains a proline-rich region and a ligand mimic helix. It is localized primarily to mitochondria, where it regulates mitochondrial morphology and energy metabolism, acts as a sensor mediating calcium-dependent activation of mitochondrial flashes (mitoflashes), and modulates neuronal and muscle cell differentiation and apoptosis. EFHD1 is also an actin-binding and bundling protein with both Ca²⁺-independent actin-binding activity and Ca²⁺/Zn²⁺-dependent actin-bundling activity, suggesting a complex role in coordinating cytoskeletal dynamics with mitochondrial function. Although EFHD1 is biologically important, there is no evidence that it is a direct therapeutic target or that drugs are known to specifically modulate its function to date.

Other names
Swiprosin-2SWS2PP3051FLJ13612EF-hand domain family member D1MST133MSTP133
02

Biological functions

Regulation of mitochondrial morphologyEnergy metabolism and synthesis (mitochondrial function)Neuronal differentiation and developmentMuscle precursor cell apoptosis and differentiationActin binding and bundling (cytoskeleton regulation)Response to Ca²⁺ and Zn²⁺ signals (calcium and metal ion sensing)Mitochondrial flash (mitoflash) activation
03

Disease associations

Neurodegenerative disease (implied from neuronal function, but not directly tied to specific diseases in the literature)Cancer (possible, based on pro-survival activity in malignant tissues)Other (pro-survival and differentiation roles suggest indirect links to diseases affected by mitochondrial dysfunction)

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