SLC39A4 Gene Summary [Human]
This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Details
| Type | Processed Transcript |
| Official Symbol | SLC39A4 |
| Official Name | solute carrier family 39 member 4 [Source:HGNC Symbol;Acc:HGNC:17129] |
| Ensembl ID | ENSG00000147804 |
| Bio databases IDs | |
| Aliases | solute carrier family 39 member 4 |
| Synonyms | 1600025H15Rik, AEZ, AWMS2, solute carrier family 39 member 4, solute carrier family 39 (zinc transporter), member 4, ZIP4 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC39A4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc ion binding
- histidine-rich region
- ZIP Zinc transporter
- metal ion binding
- Zinc transporter ZIP4 domain
- zinc ion transporter
- identical protein binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- acrodermatitis enteropathica
- familial acrodermatitis enteropathica
- immunodeficiency
- serous ovarian adenocarcinoma
- serous ovarian cancer
role in cell
- phosphorylation in
- proliferation
- expression in
- cell division
- sequestration in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- perinuclear region
- endosomes
- vesicles
- granules
- apical cell surfaces
- basolateral cell surfaces
- apical membrane
- trans Golgi network
- endosomal membrane
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC39A4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular zinc ion homeostasis
- zinc ion import
- cellular response to zinc ion starvation
- zinc ion transmembrane transport
- cellular cation homeostasis
- bicarbonate transport
Cellular Component
Where in the cell the gene product is active
- cytoplasmic vesicle
- recycling endosome membrane
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- zinc ion binding
- metal ion binding
- zinc ion transmembrane transporter activity