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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]
MAGT1 (Magnesium Transporter 1) is a Protein Coding gene. Diseases associated with MAGT1 include Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia and Congenital Disorder Of Glycosylation, Type Icc. Among its related pathways are Innate Immune System and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is TUSC3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015095 | magnesium ion transmembrane transporter activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA,IDA | 25135935 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | NAS | 19717468 |
GO:0008250 | oligosaccharyltransferase complex | IBA,IDA | 15835887 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006487 | protein N-linked glycosylation | NAS | 18455129 |
GO:0015693 | magnesium ion transport | IMP | 19717468 |
GO:0018279 | protein N-linked glycosylation via asparagine | IBA,TAS | -- |
GO:0043312 | neutrophil degranulation | TAS | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MAGT1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAGT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MAGT1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Magt1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Magt1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MAGT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MAGT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MAGT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | magt1 30 |
|
||
Str.15570 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | magt1 30 31 |
|
OneToOne | |
wufc49b02 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9275 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7830 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ZK686.3 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | OST3 31 33 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10969 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
844382 | Likely Pathogenic: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia | 77,875,427(-) |
C/G NM_032121.5(MAGT1):c.368+1G>C |
SPLICE_DONOR | |
844433 | Uncertain Significance: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia | 77,855,527(-) |
G/A NM_001367916.1(MAGT1):c.736C>T (p.His246Tyr) |
MISSENSE | |
930698 | Uncertain Significance: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia | 77,857,457(-) |
G/A NM_001367916.1(MAGT1):c.431C>T (p.Ala144Val) |
MISSENSE | |
933570 | Uncertain Significance: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia | 77,853,974(-) |
A/T NM_001367916.1(MAGT1):c.763-10T>A |
INTRON | |
937525 | Uncertain Significance: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia | 77,875,435(-) |
C/T NM_001367916.1(MAGT1):c.265G>A (p.Val89Ile) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv202e180 | CNV | loss | 20482838 |
esv1784785 | CNV | deletion | 17803354 |
esv21463 | CNV | gain+loss | 19812545 |
esv2661329 | CNV | deletion | 23128226 |
esv2740244 | CNV | deletion | 23290073 |
esv3013790 | CNV | deletion | 24192839 |
esv3558995 | CNV | deletion | 23714750 |
esv3576945 | CNV | gain | 25503493 |
nsv1076266 | CNV | deletion | 25765185 |
nsv1118395 | CNV | deletion | 24896259 |
nsv511668 | CNV | loss | 21212237 |
nsv512679 | CNV | loss | 21212237 |
nsv821080 | CNV | deletion | 20802225 |
nsv829381 | CNV | loss | 20364138 |