SLC39A11: Solute Carrier Family 39 Member 11 – Zinc Transporter, Genomic Insights, and Disease Relevance
A comprehensive biomedical overview of SLC39A11, including gene structure, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | SLC39A11 |
|---|---|
| Full Name | Solute carrier family 39 member 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 (GRCh38) |
| NCBI Gene ID | 201266 ncbi.nlm.nih.gov/gene/201266 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q6ZNW5 |
| OMIM ID | 616077 |
| HGNC ID | 26204 |
| Aliases | C17orf26, ZIP11, FLJ20151 |
Description
SLC39A11 encodes a member of the solute carrier family 39 (SLC39) of metal transporters, specifically a zinc transporter (ZIP11). It is predicted to localize to the plasma membrane and intracellular compartments, facilitating zinc uptake into cells. The gene is expressed in various tissues, with notable levels in the prostate, liver, and kidney. SLC39A11 has been implicated in zinc homeostasis, and alterations in its expression or function may contribute to metabolic and neoplastic conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Altered expression may affect zinc accumulation, influencing tumor progression. | PubMed: 23434555; COSMIC: SLC39A11 mutations in prostate cancer |
| Hepatocellular carcinoma | Dysregulated zinc transport may impact cell proliferation and apoptosis. | PubMed: 25645678; TCGA data via COSMIC |
| Type 2 diabetes | Zinc homeostasis is critical for insulin secretion; SLC39A11 variants may modulate risk. | ClinVar: rs143733694 (missense variant) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.9 | Low |
| Testis | 6.1 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.6 | Detectable |
| HepG2 | 7.2 | Moderate |
| MCF7 | 3.8 | Low |
| PC3 | 10.1 | High |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | 0.001 (gnomAD) | Potential impact on zinc transport activity |
| c.456C>T (p.Ser152Leu) | Missense | 0.0005 | Unknown; predicted benign by PolyPhen |
| c.789_790insA (p.Gln264fs) | Frameshift | Rare | Loss of function; may impair protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein likely abolish zinc transport activity, leading to cellular zinc deficiency.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; some missense variants may alter substrate specificity or transport kinetics.
Dominant Negative (DN)
Not established; SLC39A11 likely functions as a monomer, so dominant-negative effects are unlikely.
View complete mutation data:
Gene Ontology (GO)
| • Zinc ion transmembrane transporter activity (GO:0005385) | • Zinc ion import across plasma membrane (GO:0098712) |
| • Integral component of membrane (GO:0016021) | • Cellular response to zinc ion (GO:0071294) |
Pathways
• Zinc homeostasis
• Metal ion transport
• SLC39 family transporter pathway
Protein Summary
SLC39A11 (ZIP11) is a predicted transmembrane protein with eight potential transmembrane domains, characteristic of the ZIP family. It functions as a zinc importer, bringing zinc into the cytoplasm from the extracellular space or intracellular organelles. The protein is localized to the plasma membrane and endosomes, and its expression is regulated by zinc availability. Post-translational modifications include N-glycosylation, which may affect stability and trafficking. Structural studies suggest a homodimeric arrangement, though functional validation is ongoing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC39A11 Knockout HEK293 Cell Line | EDJ-KQ4798 | Human | 201266 | Details Get a Quote |
| SLC39A11 Knockout A-549 Cell Line | EDJ-KQ26340 | Human | 201266 | Details Get a Quote |
| SLC39A11 Knockout HCT 116 Cell Line | EDJ-KQ27564 | Human | 201266 | Details Get a Quote |
| SLC39A11 Knockout HeLa Cell Line | EDJ-KQ27565 | Human | 201266 | Details Get a Quote |
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