{{.infobox .infobox-gene}}
| Symbol | SLC31A1 |
| Full Name | Solute Carrier Family 31 Member 1 (Copper Transporter 1) |
| Chromosome | 9q32 |
| NCBI Gene ID | 10551 |
| OMIM | 603085 |
| Ensembl ID | ENSG00000137767 |
| UniProt ID | O15431 |
| Associated Diseases | Menkes disease (potential modifier), Wilson disease, Amyotrophic lateral sclerosis |
The SLC31A1 gene encodes Copper Transporter 1 (CTR1), a high-affinity plasma membrane copper uptake protein essential for cellular copper homeostasis [1]. CTR1 is the primary gateway for copper acquisition in most cell types, mediating the rapid uptake of copper required for the function of copper-dependent enzymes throughout the body [2].
Copper is an essential trace element required for the activity of numerous enzymes critical to energy metabolism, antioxidant defense, neurotransmitter synthesis, and iron metabolism. However, excess copper is highly toxic, making the tight regulation provided by CTR1 and other copper transporters crucial for cellular health [3].
CTR1 functions as a high-affinity copper transporter, facilitating the import of Cu⁺ ions (the reduced form of copper) across the plasma membrane. The transporter operates as a trimer, forming a pore that conducts copper ions driven by the transmembrane copper gradient [4].
Key features of CTR1-mediated copper uptake:
Once inside the cell, copper is immediately handed off to copper chaperones that direct it to specific destinations:
This rapid chelation prevents free copper from participating in harmful redox reactions.
CTR1 is expressed in virtually all tissues, with particularly high expression in:
In the brain, CTR1 is expressed in neurons, astrocytes, and the blood-brain barrier, where it regulates copper entry into the central nervous system [8].
Copper dysregulation is strongly implicated in Alzheimer's disease pathogenesis:
Copper also plays a role in Parkinson's disease:
CTR1 may be relevant to ALS pathogenesis:
While Menkes disease is primarily caused by mutations in ATP7A (a copper-transporting ATPase), CTR1 function can modify disease severity. Reduced CTR1 expression can exacerbate copper deficiency in Menkes disease [14].
Wilson disease, caused by ATP7B mutations, involves copper overload. CTR1 expression may influence the rate of copper accumulation and disease progression [15].
CTR1 is frequently upregulated in cancers, where copper is needed for proliferation and angiogenesis. CTR1 expression correlates with tumor growth and metastatic potential [16].
CTR1 is a potential therapeutic target: