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Aliases for MAGT1 Gene

Aliases for MAGT1 Gene

  • Magnesium Transporter 1 2 3 5
  • Implantation-Associated Protein 3 4
  • IAP 3 4
  • Oligosaccharyltransferase 3 Homolog B (S. Cerevisiae) 2
  • Oligosaccharyltransferase 3 Homolog B 3
  • Magnesium Transporter Protein 1 3
  • BA217H1.1 3
  • PRO0756 3
  • MRX95 3
  • OST3B 3
  • MagT1 4
  • XMEN 3
  • IAG2 4

External Ids for MAGT1 Gene

Previous GeneCards Identifiers for MAGT1 Gene

  • GC0XM076968
  • GC0XM077081
  • GC0XM070668

Summaries for MAGT1 Gene

Entrez Gene Summary for MAGT1 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]

GeneCards Summary for MAGT1 Gene

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 X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is TUSC3.

UniProtKB/Swiss-Prot for MAGT1 Gene

  • Acts as accessory component 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-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with TUSC3. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Has also oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition.

  • May be involved in Mg(2+) transport in epithelial cells.

Gene Wiki entry for MAGT1 Gene

Additional gene information for MAGT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAGT1 Gene

Genomics for MAGT1 Gene

GeneHancer (GH) Regulatory Elements for MAGT1 Gene

Promoters and enhancers for MAGT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI077893 Promoter/Enhancer 1.4 Ensembl ENCODE 550.8 +0.3 320 2.9 PKNOX1 ATF1 FOXA2 ARID4B SIN3A GLI4 ZNF2 IRF4 BRCA1 ZNF48 MAGT1 RN7SL460P
GH0XI078746 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 4.3 -852.2 -852154 3.2 LPAR4 ITM2A MAGT1 RPL7P54
GH0XI077527 Enhancer 0.7 ENCODE 5.2 +367.8 367798 1.2 NFRKB TEAD4 TAL1 CEBPG TCF12 NCOR1 VEZF1 CBFA2T2 PRDM10 RNF2 FGF16 MAGT1 GC0XP077687 ATRX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAGT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAGT1 gene promoter:

Genomic Locations for MAGT1 Gene

Genomic Locations for MAGT1 Gene
chrX:77,826,364-77,895,593
(GRCh38/hg38)
Size:
69,230 bases
Orientation:
Minus strand
chrX:77,081,861-77,151,090
(GRCh37/hg19)

Genomic View for MAGT1 Gene

Genes around MAGT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAGT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAGT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAGT1 Gene

Proteins for MAGT1 Gene

  • Protein details for MAGT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0U3-MAGT1_HUMAN
    Recommended name:
    Magnesium transporter protein 1
    Protein Accession:
    Q9H0U3
    Secondary Accessions:
    • B2RAR4
    • D3DTE3
    • Q53G00
    • Q6P577
    • Q8NBN6

    Protein attributes for MAGT1 Gene

    Size:
    335 amino acids
    Molecular mass:
    38037 Da
    Quaternary structure:
    • Accessory component of the STT3B-containing form of the oligosaccharyltransferase (OST) complex. OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes. The association of TUSC3 or MAGT1 with the STT3B-containing complex seems to be mutually exclusvice.

    Alternative splice isoforms for MAGT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAGT1 Gene

Post-translational modifications for MAGT1 Gene

Other Protein References for MAGT1 Gene

No data available for DME Specific Peptides for MAGT1 Gene

Domains & Families for MAGT1 Gene

Gene Families for MAGT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for MAGT1 Gene

Suggested Antigen Peptide Sequences for MAGT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H0U3

UniProtKB/Swiss-Prot:

MAGT1_HUMAN :
  • Belongs to the OST3/OST6 family.
Family:
  • Belongs to the OST3/OST6 family.
genes like me logo Genes that share domains with MAGT1: view

Function for MAGT1 Gene

Molecular function for MAGT1 Gene

UniProtKB/Swiss-Prot Function:
Acts as accessory component 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-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with TUSC3. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Has also oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition.
UniProtKB/Swiss-Prot Function:
May be involved in Mg(2+) transport in epithelial cells.
UniProtKB/Swiss-Prot Induction:
Up-regulated by low extracellular Mg(2+).

Gene Ontology (GO) - Molecular Function for MAGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004579 contributes_to dolichyl-diphosphooligosaccharide-protein glycotransferase activity IBA --
GO:0015095 magnesium ion transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with MAGT1: view
genes like me logo Genes that share phenotypes with MAGT1: view

Human Phenotype Ontology for MAGT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for MAGT1 Gene

Localization for MAGT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAGT1 Gene

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum. Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAGT1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
lysosome 4
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MAGT1 Gene

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 IDA 15835887
genes like me logo Genes that share ontologies with MAGT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAGT1 Gene

Pathways & Interactions for MAGT1 Gene

genes like me logo Genes that share pathways with MAGT1: view

UniProtKB/Swiss-Prot Q9H0U3-MAGT1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for MAGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation NAS 18455129
GO:0006810 transport IEA --
GO:0015693 magnesium ion transport IMP 19717468
GO:0018279 protein N-linked glycosylation via asparagine TAS --
genes like me logo Genes that share ontologies with MAGT1: view

No data available for SIGNOR curated interactions for MAGT1 Gene

Drugs & Compounds for MAGT1 Gene

No Compound Related Data Available

Transcripts for MAGT1 Gene

Unigene Clusters for MAGT1 Gene

Magnesium transporter 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAGT1 Gene

No ASD Table

Relevant External Links for MAGT1 Gene

GeneLoc Exon Structure for
MAGT1
ECgene alternative splicing isoforms for
MAGT1

Expression for MAGT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAGT1 Gene

Protein differential expression in normal tissues from HIPED for MAGT1 Gene

This gene is overexpressed in Nasal epithelium (41.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAGT1 Gene



Protein tissue co-expression partners for MAGT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAGT1 Gene:

MAGT1

SOURCE GeneReport for Unigene cluster for MAGT1 Gene:

Hs.323562

mRNA Expression by UniProt/SwissProt for MAGT1 Gene:

Q9H0U3-MAGT1_HUMAN
Tissue specificity: Ubiquitous. Expressed at very low levels in brain, lung and kidney.

Evidence on tissue expression from TISSUES for MAGT1 Gene

  • Nervous system(4.7)
  • Adrenal gland(4.2)
  • Kidney(2.6)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAGT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
  • testicle
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MAGT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MAGT1 Gene

Orthologs for MAGT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MAGT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAGT1 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAGT1 33 34
  • 94.43 (n)
dog
(Canis familiaris)
Mammalia MAGT1 33 34
  • 92.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Magt1 33 16 34
  • 89.16 (n)
rat
(Rattus norvegicus)
Mammalia Magt1 33
  • 89.09 (n)
oppossum
(Monodelphis domestica)
Mammalia MAGT1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAGT1 33 34
  • 80.91 (n)
lizard
(Anolis carolinensis)
Reptilia MAGT1 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia magt1 33
  • 76.45 (n)
Str.15570 33
zebrafish
(Danio rerio)
Actinopterygii magt1 33 34
  • 75.03 (n)
wufc49b02 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9275 33
fruit fly
(Drosophila melanogaster)
Insecta CG7830 34
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK686.3 34
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OST3 34 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10969 34
  • 46 (a)
OneToMany
Species where no ortholog for MAGT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAGT1 Gene

ENSEMBL:
Gene Tree for MAGT1 (if available)
TreeFam:
Gene Tree for MAGT1 (if available)

Paralogs for MAGT1 Gene

Paralogs for MAGT1 Gene

(1) SIMAP similar genes for MAGT1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for MAGT1 Gene

genes like me logo Genes that share paralogs with MAGT1: view

Variants for MAGT1 Gene

Sequence variations from dbSNP and Humsavar for MAGT1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs140854076 uncertain-significance, benign, not specified, Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia 77,895,395(-) G/A/C/T coding_sequence_variant, missense_variant, synonymous_variant
rs182757967 likely-benign, benign, not provided, Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia 77,895,440(-) C/T coding_sequence_variant, missense_variant
rs387906724 pathogenic, Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia, not provided 77,870,885(-) G/A coding_sequence_variant, stop_gained
rs61732679 likely-benign, benign, not specified, Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia 77,856,754(-) A/T coding_sequence_variant, synonymous_variant
rs200934080 pathogenic, not provided 77,895,397(-) C/G/T coding_sequence_variant, missense_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for MAGT1 Gene

Variant ID Type Subtype PubMed ID
nsv829381 CNV loss 20364138
nsv821080 CNV deletion 20802225
nsv512679 CNV loss 21212237
nsv511668 CNV loss 21212237
nsv1118395 CNV deletion 24896259
nsv1076266 CNV deletion 25765185
esv3576945 CNV gain 25503493
esv3558995 CNV deletion 23714750
esv3013790 CNV deletion 24192839
esv2740244 CNV deletion 23290073
esv2661329 CNV deletion 23128226
esv21463 CNV gain+loss 19812545
esv1784785 CNV deletion 17803354
dgv202e180 CNV loss 20482838

Variation tolerance for MAGT1 Gene

Residual Variation Intolerance Score: 47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAGT1 Gene

Human Gene Mutation Database (HGMD)
MAGT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAGT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAGT1 Gene

Disorders for MAGT1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MAGT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MAGT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAGT1_HUMAN
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) [MIM:300853]: A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. {ECO:0000269 PubMed:21796205}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MAGT1

genes like me logo Genes that share disorders with MAGT1: view

No data available for Genatlas for MAGT1 Gene

Publications for MAGT1 Gene

  1. Oxidoreductase activity is necessary for N-glycosylation of cysteine-proximal acceptor sites in glycoproteins. (PMID: 25135935) Cherepanova NA … Gilmore R (The Journal of cell biology 2014) 2 3 4 58
  2. Identification and characterization of a novel mammalian Mg2+ transporter with channel-like properties. (PMID: 15804357) Goytain A … Quamme GA (BMC genomics 2005) 2 3 4 58
  3. Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. (PMID: 21796205) Li FY … Lenardo MJ (Nature 2011) 3 4 58
  4. Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development. (PMID: 19717468) Zhou H … Clapham DE (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 58
  5. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. (PMID: 18455129) Molinari F … Colleaux L (American journal of human genetics 2008) 3 4 58

Products for MAGT1 Gene

Sources for MAGT1 Gene

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