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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
224
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital disorder of glycosylation Pathogenic rs373260156, rs1569547876 RCV000767844
RCV000767845
Congenital disorder of glycosylation, type ICC Pathogenic rs373260156, rs1569547876 RCV000850166
RCV000850167
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
RCV002033338
RCV001956433
RCV002053868
RCV003059330
RCV003236705
RCV003314399
RCV003641422
RCV003641849
RCV003640623
RCV000022873
RCV000022874
RCV000850121
RCV000649031
RCV000701956
RCV001869056
RCV000767846
RCV000819562
RCV000803993
RCV000812589
RCV000814433
RCV000850122
RCV000850123
RCV000850124
RCV001047215
RCV001253584
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs61732679 RCV005889122
Clear cell carcinoma of kidney Benign rs61732679 RCV005889123
Developmental disorder Uncertain significance rs2521990887 RCV003989444
Hepatocellular carcinoma Benign rs61732679 RCV005889121
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agammaglobulinemia Associate 35524383
Autoimmune Diseases Associate 35524383
Bacterial Infections Associate 35524383
Blood Platelet Disorders Associate 37207862
Carcinoma Hepatocellular Associate 26617690
Carcinoma Merkel Cell Associate 38170500
Castleman Disease Associate 35524383
Colonic Neoplasms Associate 28094304
Colorectal Neoplasms Associate 33484626
Congenital Disorders of Glycosylation Associate 31036665, 37207862