Seroatlas · Human Serome Atlas

MAGT1

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1

Also known as: DKFZp564K142, IAP, MAGT1_HUMAN, MRX95, OST3B, SLC58A1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9H0U3
Gene: MAGT1
Ensembl: ENSG00000102158
Chromosome: X
Canonical length: 335 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Secretome location: Intracellular and membrane

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

335 residues, UniProt reviewed canonical sequence.

>Q9H0U3|MAGT1
     1  MAARWRFWCV SVTMVVALLI VCDVPSASAQ RKKEMVLSEK VSQLMEWTNK RPVIRMNGDK
    61  FRRLVKAPPR NYSVIVMFTA LQLHRQCVVC KQADEEFQIL ANSWRYSSAF TNRIFFAMVD
   121  FDEGSDVFQM LNMNSAPTFI NFPAKGKPKR GDTYELQVRG FSAEQIARWI ADRTDVNIRV
   181  IRPPNYAGPL MLGLLLAVIG GLVYLRRSNM EFLFNKTGWA FAALCFVLAM TSGQMWNHIR
   241  GPPYAHKNPH TGHVNYIHGS SQAQFVAETH IVLLFNGGVT LGMVLLCEAA TSDMDIGKRK
   301  IMCVAGIGLV VLFFSWMLSI FRSKYHGYPY SFLMS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAGT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 4
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 73 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 73 nTPM
liver: 58 nTPM
epididymis: 50 nTPM
kidney: 38 nTPM
cervix: 37 nTPM
heart muscle: 36 nTPM

Single-cell type

epididymal principal cells: 301 nCPM
neutrophils: 220 nCPM
esophageal apical cells: 193 nCPM
hepatocytes: 184 nCPM
urothelial cells: 183 nCPM
ocular epithelial cells: 178 nCPM

Immune cell

non-classical monocyte: 32 nTPM
plasmacytoid DC: 30 nTPM
intermediate monocyte: 29 nTPM
MAIT T-cell: 26 nTPM
total PBMC: 26 nTPM
gdT-cell: 25 nTPM

Brain region

white matter: 53 nTPM
medulla oblongata: 44 nTPM
thalamus: 39 nTPM
basal ganglia: 39 nTPM
midbrain: 37 nTPM
pons: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAGT1.

Disease | AllUniProt

Conditions MAGT1 is implicated in, by any mechanism.

Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) MIM:300853
Congenital disorder of glycosylation 1CC (CDG1CC) MIM:301031

Disease | GeneticClinVar

43 pathogenic / likely-pathogenic of 330 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Congenital disorder of glycosylation, type ICC
Congenital disorder of glycosylation
See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.33
gnomAD pLI: 0.96
gnomAD missense Z: 1.06
DepMap mean gene effect: -0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

magnesium ion transmembrane transporter activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MAGT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MAGT1 as an antibody target. Whether an autoantibody or antibody against MAGT1 could matter depends on whether native MAGT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAGT1 is annotated at the cell surface, where native MAGT1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label MAGT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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