Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84061
Gene name Gene Name - the full gene name approved by the HGNC.
Magnesium transporter 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAGT1
Synonyms (NCBI Gene) Gene synonyms aliases
CDG1CC, IAP, MRX95, OST3B, PRO0756, SLC58A1, XMEN, bA217H1.1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG1CC, MRX95, XMEN
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT001828 hsa-miR-124-3p Microarray, qRT-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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IDA 25135935
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane NAS 19717468
GO:0006487 Process Protein N-linked glycosylation IMP 31036665
GO:0006487 Process Protein N-linked glycosylation NAS 18455129
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300715 28880 ENSG00000102158
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital disorder of glycosylation Congenital Disorders of Glycosylation rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Lymphoma Lymphoma rs11540652, rs1592119138, rs1592123162, rs1599367044
Mental retardation MENTAL RETARDATION, X-LINKED 95 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
18455129
Associations from Text Mining
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