MAGT1 Gene Summary [Human]
This gene encodes a ubiquitously expressed magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause a form of X-linked intellectual disability (XLID). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. [provided by RefSeq, Jul 2017]
Details
| Type | Protein Coding |
| Official Symbol | MAGT1 |
| Official Name | magnesium transporter 1 [Source:HGNC Symbol;Acc:HGNC:28880] |
| Ensembl ID | ENSG00000102158 |
| Bio databases IDs | |
| Aliases | magnesium transporter 1, oligosaccharyltransferase 3 homolog B (S. cerevisiae) |
| Synonyms | 2410001C15Rik, 2610529C04RIK, 2810482I07Rik, bA217H1.1, CDG1CC, DKFZp564K142, IAG2, IAP, implantation-associated, magnesium transporter 1, MRX95, OST3B, PRO0756, SLC58A1, XMEN |
| 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 MAGT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- enzyme
- magnesium ion transporter
- OST3 / OST6 family, transporter family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital disorder of glycosylation type 1CC
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- aldosterone producing adrenocortical adenoma
- adenoma formation
- Graves disease
- idiopathic CD4+ T-lymphocytopenia
- congenital disorders of glycosylation
- X-linked mental retardation
- infection by bacteria
role in cell
- cell viability
- expression in
- activation in
- phosphorylation in
- activation
- dephosphorylation in
- frequency
- N-glycosylation 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
- cellular membrane
- Endoplasmic Reticulum
- secretory granule membrane
- lysosome membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAGT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- cognition
- magnesium ion transport
- protein N-linked glycosylation
- protein N-linked glycosylation via asparagine
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- oligosaccharyltransferase complex
- membrane
- endoplasmic reticulum
- azurophil granule membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- magnesium ion transmembrane transporter activity