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.

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 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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