Gene Gene information from NCBI Gene database.
Entrez ID 84061
Gene name Magnesium transporter 1
Gene symbol MAGT1
Synonyms (NCBI Gene)
CDG1CCIAPMRX95OST3BPRO0756SLC58A1XMENbA217H1.1
Chromosome X
Chromosome location Xq21.1
Summary 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 ca
SNPs SNP information provided by dbSNP.
19
SNP ID Visualize variation Clinical significance Consequence
rs140854076 G>A,C,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, missense variant
rs200934080 C>G,T Pathogenic Missense variant, coding sequence variant, stop gained
rs373260156 T>C,G Pathogenic Synonymous variant, missense variant, coding sequence variant
rs387906724 G>A Pathogenic Stop gained, coding sequence variant
rs782474570 TT>- Pathogenic Upstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
812
miRTarBase ID miRNA Experiments Reference
MIRT001828 hsa-miR-124-3p MicroarrayqRT-PCR 16549876
MIRT001828 hsa-miR-124-3p qRT-PCR;Other 16549876
MIRT029002 hsa-miR-26b-5p Microarray 19088304
MIRT656530 hsa-miR-548e-5p HITS-CLIP 23824327
MIRT656529 hsa-miR-6501-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IDA 25135935
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane IMP 31337704
GO:0005789 Component Endoplasmic reticulum membrane NAS 31831667
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300715 28880 ENSG00000102158
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H0U3
Protein name Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 (Oligosaccharyl transferase subunit MAGT1) (Implantation-associated protein) (IAP) (Magnesium transporter protein 1) (MagT1)
Protein function 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-
PDB 6S7T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04756 OST3_OST6 42 330 OST3 / OST6 family, transporter family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expressed at very low levels in brain, lung and kidney. {ECO:0000269|PubMed:12887896, ECO:0000269|PubMed:15804357, ECO:0000269|PubMed:19717468, ECO:0000269|PubMed:31036665}.
Sequence
Sequence length 335
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Protein processing in endoplasmic reticulum
  Asparagine N-linked glycosylation
Miscellaneous transport and binding events
Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital disorder of glycosylation Pathogenic rs373260156, rs1569547876 RCV000767844
RCV000767845
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital disorder of glycosylation, type ICC Pathogenic rs373260156, rs1569547876 RCV000850166
RCV000850167
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Pathogenic; Likely pathogenic rs2149018410, rs2149018425, rs2149017839, rs2149017828, rs2149031468, rs2149017840, rs2149008270, rs2149018434, rs2521993517, rs2521993564, rs2521996795, rs2076984121, rs2521995500, rs2521993448, rs1603361427
View all (15 more)
RCV001388461
RCV001387659
RCV001592782
RCV001592783
RCV001592784
View all (25 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 26944210
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 20299817
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 26944210
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 35524383 Associate
★☆☆☆☆
Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED alpha-Thalassemia Mental Retardation Syndrome, X-Linked BEFREE 26422833
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 12153481
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 35524383 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia BEFREE 18177647
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 20119625, 28139689
★☆☆☆☆
Found in Text Mining only
Blood Platelet Disorders Platelet disorder Pubtator 37207862 Associate
★☆☆☆☆
Found in Text Mining only