SLC30A5: Zinc Transporter 5 (ZnT-5)
A key regulator of cellular zinc homeostasis, implicated in insulin secretion, immune function, and cancer.
Gene Information Card
| Symbol | SLC30A5 |
|---|---|
| Full Name | Solute Carrier Family 30 Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 64924 ncbi.nlm.nih.gov/gene/64924 |
| Ensembl ID | ENSG00000145740 |
| UniProt ID | Q8TAD4 |
| OMIM ID | 609816 |
| HGNC ID | 11018 |
| Aliases | ZNT5, ZTL1, ZNT5A, ZNT5B |
Description
SLC30A5 encodes zinc transporter 5 (ZnT-5), a member of the SLC30 family of zinc efflux transporters. ZnT-5 localizes to the Golgi apparatus and secretory vesicles, where it transports zinc from the cytoplasm into these organelles, thereby regulating intracellular zinc distribution. It is essential for insulin maturation in pancreatic beta cells, immune cell function, and bone development. Mutations and altered expression of SLC30A5 have been linked to type 2 diabetes, prostate cancer, and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Impaired zinc transport in pancreatic beta cells reduces insulin crystallization and secretion. | OMIM #609816; ClinVar |
| Prostate Cancer | Overexpression of SLC30A5 in prostate tumors correlates with zinc accumulation and tumor progression. | COSMIC; PubMed studies |
| Breast Cancer | Altered SLC30A5 expression affects zinc homeostasis, promoting cell proliferation and invasion. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 23.4 | High |
| Prostate | 18.7 | High |
| Liver | 12.1 | Medium |
| Kidney | 10.5 | Medium |
| Brain | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.3 | High expression |
| PC3 (prostate cancer) | 20.1 | High expression |
| HepG2 (liver cancer) | 11.8 | Medium expression |
| HEK293 (embryonic kidney) | 9.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Trp) | Missense | <0.01% | Reduced zinc transport activity; associated with type 2 diabetes risk |
| c.454G>A (p.Gly152Ser) | Missense | <0.01% | Altered protein stability; reported in prostate cancer |
| c.789_790insA (p.Leu264Thrfs*12) | Frameshift | <0.01% | Loss of function; rare in population databases |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt zinc-binding domains lead to reduced zinc efflux into Golgi, impairing insulin maturation and immune function.
Gain of Function (GOF)
Missense mutations that increase zinc transport activity may contribute to zinc overload in secretory vesicles, potentially promoting tumor growth in prostate and breast tissues.
Dominant Negative (DN)
No dominant-negative mutations have been reported for SLC30A5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Zinc homeostasis (Reactome: R-HSA-435354)
• Insulin secretion (Reactome: R-HSA-422356)
• Metal ion SLC transporters (KEGG: hsa04978)
Protein Summary
ZnT-5 is a 765-amino acid multipass transmembrane protein with six transmembrane domains and a histidine-rich loop. It forms homodimers or heterodimers with other ZnT proteins to transport zinc from the cytosol into the Golgi lumen and secretory vesicles. ZnT-5 is critical for zinc loading into proinsulin, zinc-dependent enzyme activation, and bone mineralization. Its expression is regulated by dietary zinc and hormonal signals.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC30A5 Knockout HEK293 Cell Line | EDJ-KQ15323 | Human | 64924 | Details Get a Quote |
| SLC30A5 Knockout A-549 Cell Line | EDJ-KQ46032 | Human | 64924 | Details Get a Quote |
| SLC30A5 Knockout HCT 116 Cell Line | EDJ-KQ46033 | Human | 64924 | Details Get a Quote |
| SLC30A5 Knockout HeLa Cell Line | EDJ-KQ46034 | Human | 64924 | Details Get a Quote |
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