SLC30A1

SLC30A1, or zinc transporter 1 (ZnT-1), is a human gene that encodes a member of the solute carrier 30 (SLC30) family. The ZnT-1 protein functions as a zinc exporter that helps maintain cellular zinc homeostasis by reducing cytosolic Zn2+ concentration. In most cell types ZnT-1 mediates efflux of zinc across the plasma membrane, lowering intracellular zinc levels and contributing to zinc distribution between the cytosol and the extracellular space.

ZnT-1 is broadly expressed in many tissues and is particularly important in cells involved in zinc handling. It is a transmembrane protein with multiple domains and is believed to operate as part of a proton-dependent exchanger that moves zinc either out of the cell or into intracellular compartments, depending on cellular conditions.

Regulation: Expression of SLC30A1 is responsive to zinc status, and zinc excess can induce regulatory pathways such as MTF-1 that coordinate the expression of zinc transporters and metallothioneins. Post-translational and interacting protein factors can modulate ZnT-1 localization and activity.

Clinical relevance: Disruption of zinc transport by SLC30A1 variants or altered ZnT-1 activity can affect zinc homeostasis. In animal models, loss of ZnT-1 leads to increased intracellular zinc accumulation and altered tissue zinc content, underscoring its role in protection against zinc toxicity. In humans, rare genetic variants have been studied for associations with disorders featuring zinc imbalance, but clear, consistent disease links are currently limited.

Function and family: SLC30A1 is one of the ZnT family that work in opposition to the ZIP (SLC39) family, which imports zinc into the cytosol. ZnT-1, as a zinc transporter, is an important component of cellular zinc buffering systems and secretory pathways in various tissues.