AlphaFold predicted structure
MAGT1 · Q9H0U3
Mean pLDDT
85.9/ 100
Confident
335 residues
Confidence breakdown
- Very high(≥ 90)45%
- Confident(70–90)47%
- Low(50–70)9%
- Very low(< 50)0%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MAGT1
Chr Xq21.1magnesium transporter 1
- Aliases:
- DKFZp564K142, IAP, OST3B, MRX95, SLC58A1
- MANE:
- ENST00000618282.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital disorders of glycosylation
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesCOVID-19 research
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesLikely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesPrimary immunodeficiency or monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesUndiagnosed metabolic disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesChildhood onset dystonia, chorea or related movement disorder
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIntellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Disease associations (Open Targets)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
0.81congenital disorder of glycosylation type I
0.60dengue disease
0.50combined immunodeficiency
0.46severe combined immunodeficiency
0.46congenital disorder of glycosylation
0.43COVID-19
0.37immunodeficiency disease
0.27hereditary disease
0.19developmental disability
0.11
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1
Accessory component of the STT3B-containing form of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains (PubMed:31831667). Involved in N-glycosylation of STT3B-dependent substrates (PubMed:31831667). Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with TUSC3. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Also has oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition. Could indirectly play a role in Mg(2+) transport in epithelial cells (Probable)
Diseases associated with MAGT1
Curated MONDO disease pages that list MAGT1 among their top associated genes.