SLC30A1: Zinc Transporter 1 (ZnT-1)
Key regulator of cellular zinc homeostasis, implicated in neuroprotection, diabetes, and cancer
Gene Information Card
| Symbol | SLC30A1 |
|---|---|
| Full Name | Solute Carrier Family 30 Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.3 |
| NCBI Gene ID | 7779 ncbi.nlm.nih.gov/gene/7779 |
| Ensembl ID | ENSG00000170385 |
| UniProt ID | Q9Y6M5 |
| OMIM ID | 609821 |
| HGNC ID | 11013 |
| Aliases | ZNT1, ZRC1 |
Description
SLC30A1 (Solute Carrier Family 30 Member 1) encodes zinc transporter 1 (ZnT-1), a ubiquitously expressed transmembrane protein that exports zinc from the cytoplasm to the extracellular space or into intracellular vesicles. ZnT-1 is critical for maintaining cellular zinc homeostasis, protecting cells from zinc toxicity, and modulating signaling pathways. It is involved in neuroprotection, insulin secretion, and cancer progression. The gene is located on chromosome 1q32.3 and is conserved across species.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | ZnT-1 overexpression reduces amyloid-beta toxicity; altered zinc homeostasis in brain | PMID: 20152119; NCBI GeneRIF |
| Type 2 diabetes | ZnT-1 regulates insulin secretion in pancreatic beta-cells; variants associated with glucose metabolism | PMID: 23395179; ClinVar |
| Prostate cancer | ZnT-1 downregulation leads to zinc accumulation and tumor suppression; loss of expression in malignant tissue | PMID: 18413744; COSMIC |
| Ischemic stroke | ZnT-1 upregulation protects neurons from zinc-induced excitotoxicity | PMID: 16701209; NCBI GeneRIF |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Pancreas | 12.8 | Medium |
| Prostate | 8.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| SH-SY5Y | 14.2 | Medium expression |
| MCF7 | 9.8 | Low expression |
| HepG2 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.113C>T (p.Thr38Ile) | Missense | 0.0002 (gnomAD) | Altered zinc transport activity; potential impact on insulin secretion |
| c.487G>A (p.Gly163Arg) | Missense | 0.0001 (gnomAD) | Reduced zinc export; associated with altered neuronal zinc homeostasis |
| c.1022T>C (p.Leu341Pro) | Missense | 0.00005 (gnomAD) | Unknown functional effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair zinc export activity (e.g., p.Gly163Arg) lead to cytoplasmic zinc accumulation and increased oxidative stress.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported; overexpression in some cancers may confer resistance to zinc toxicity.
Dominant Negative (DN)
No dominant-negative mutations described; ZnT-1 functions as a homodimer, but dominant-negative effects have not been documented.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005385 - zinc ion transmembrane transporter activity | • GO:0006882 - cellular zinc ion homeostasis |
| • GO:0071577 - zinc ion export across plasma membrane | • GO:0016021 - integral component of membrane |
| • GO:0046873 - metal ion transmembrane transporter activity |
Pathways
• Zinc homeostasis (Reactome: R-HSA-435354)
• Metal ion SLC transporters (KEGG: hsa04976)
Protein Summary
ZnT-1 (UniProt Q9Y6M5) is a 507-amino acid transmembrane protein with six transmembrane domains and a histidine-rich loop. It forms homodimers and exports zinc from the cytosol using a proton gradient. ZnT-1 is expressed in most tissues, with highest levels in brain, pancreas, and kidney. It protects cells from zinc toxicity, modulates L-type calcium channels, and influences insulin secretion. Post-translational modifications include phosphorylation and ubiquitination, affecting stability and localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC30A1 Knockout HEK293 Cell Line | EDC08069 | Human | 7779 | Details Get a Quote |
| SLC30A1 Knockout A-549 Cell Line | EDJ-KQ26016 | Human | 7779 | Details Get a Quote |
| SLC30A1 Knockout HCT 116 Cell Line | EDJ-KQ26017 | Human | 7779 | Details Get a Quote |
| SLC30A1 Knockout HeLa Cell Line | EDJ-KQ26018 | Human | 7779 | Details Get a Quote |
| SLC30A10 Knockout HEK293 Cell Line | EDJ-KQ51457 | Human | 55532 | Details Get a Quote |
| SLC30A10 Knockout HeLa Cell Line | EDJ-KQ56598 | Human | 55532 | Details Get a Quote |
| SLC30A10 Knockout A-549 Cell Line | EDJ-KQ65098 | Human | 55532 | Details Get a Quote |
| SLC30A10 Knockout HCT 116 Cell Line | EDJ-KQ73543 | Human | 55532 | Details Get a Quote |
| SLC30A10 Knockout Huh-7 Cell Line | EDC07857 | Human | 55532 | Details Get a Quote |
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