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MAGT1 magnesium transporter 1 [ Homo sapiens (human) ]

Gene ID: 84061, updated on 7-Apr-2024

Summary

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Official Symbol
MAGT1provided by HGNC
Official Full Name
magnesium transporter 1provided by HGNC
Primary source
HGNC:HGNC:28880
See related
Ensembl:ENSG00000102158 MIM:300715; AllianceGenome:HGNC:28880
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IAP; XMEN; MRX95; OST3B; CDG1CC; PRO0756; SLC58A1; bA217H1.1
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 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]
Expression
Ubiquitous expression in thyroid (RPKM 54.7), kidney (RPKM 22.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
Xq21.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (77825747..77895568, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (76263304..76330626, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (77081244..77151065, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:76703913-76704414 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:76749658-76750240 Neighboring gene NANOG hESC enhancer GRCh37_chrX:76757869-76758370 Neighboring gene fibroblast growth factor 16 Neighboring gene ATRX chromatin remodeler Neighboring gene fatty acid binding protein 5 pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29779 Neighboring gene RNA, U6 small nuclear 854, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29782 Neighboring gene RNA, 7SL, cytoplasmic 460, pseudogene Neighboring gene cytochrome c oxidase subunit 7B Neighboring gene ATPase copper transporting alpha Neighboring gene C4orf46 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease. Watson CM, et al. Genes Immun, 2022 Apr. PMID 35264785, Free PMC Article
  2. CRISPR-targeted MAGT1 insertion restores XMEN patient hematopoietic stem cells and lymphocytes. Brault J, et al. Blood, 2021 Dec 30. PMID 34086870, Free PMC Article
  3. An Update on XMEN Disease. Ravell JC, et al. J Clin Immunol, 2020 Jul. PMID 32451662, Free PMC Article
  4. Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. Ravell JC, et al. J Clin Invest, 2020 Jan 2. PMID 31714901, Free PMC Article
  5. Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes. Matsuda-Lennikov M, et al. J Biol Chem, 2019 Sep 13. PMID 31337704, Free PMC Article

See all (106) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Long non-coding RNA FLVCR1-AS1 functions as a ceRNA to aggravate cervical cancer cell growth by the miR-381-3p/MAGT1 axis.
    Title: Long non-coding RNA FLVCR1-AS1 functions as a ceRNA to aggravate cervical cancer cell growth by the miR-381-3p/MAGT1 axis.
  2. Transcription factor KLF16 activates MAGT1 to regulate the tumorigenesis and progression of breast cancer.
    Title: Transcription factor KLF16 activates MAGT1 to regulate the tumorigenesis and progression of breast cancer.
  3. Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.
    Title: Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.
  4. MAGT1 is required for HeLa cell proliferation through regulating p21 expression, S-phase progress, and ERK/p38 MAPK MYC axis.
    Title: MAGT1 is required for HeLa cell proliferation through regulating p21 expression, S-phase progress, and ERK/p38 MAPK MYC axis.
  5. CRISPR-targeted MAGT1 insertion restores XMEN patient hematopoietic stem cells and lymphocytes.
    Title: CRISPR-targeted MAGT1 insertion restores XMEN patient hematopoietic stem cells and lymphocytes.
  6. miR-199a-5p targeted regulation of MAGT1 expression in the functional depletion of CD8(+)T cells in HBV infection.
    Title: miR-199a-5p targeted regulation of MAGT1 expression in the functional depletion of CD8(+)T cells in HBV infection.
  7. TRPM7 and MagT1 regulate the proliferation of osteoblast-like SaOS-2 cells through different mechanisms.
    Title: TRPM7 and MagT1 regulate the proliferation of osteoblast-like SaOS-2 cells through different mechanisms.
  8. microRNA-199a-5p suppresses glioma progression by inhibiting MAGT1.
    Title: microRNA-199a-5p suppresses glioma progression by inhibiting MAGT1.
  9. Authors observed that MAGT1-dependent glycosylation is sensitive to Mg(2+) levels and that reduced Mg(2+) impairs immune-cell function via the loss of specific glycoproteins. Findings reveal that defects in protein glycosylation and gene expression underlie immune defects in an inherited disease due to MAGT1 deficiency.
    Title: Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes.
  10. This study demonstrates that the simultaneous downregulation of TRPM7 and MagT1 inhibits cell growth and activates autophagy, which is required in the early phases of osteoblastogenesis.
    Title: The simultaneous downregulation of TRPM7 and MagT1 in human mesenchymal stem cells in vitro: Effects on growth and osteogenic differentiation.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-09-22)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-09-22)

ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with magnesium transporter 1 (MAGT1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14726, MGC64926, DKFZp564K142

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables magnesium ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables magnesium ion transmembrane transporter activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in cognition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in magnesium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in magnesium ion transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein N-linked glycosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein N-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein N-linked glycosylation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein N-linked glycosylation via asparagine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein N-linked glycosylation via asparagine IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in transmembrane transport TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in membrane HDA PubMed 
part_of oligosaccharyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of oligosaccharyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of oligosaccharyltransferase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
magnesium transporter protein 1
Names
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1
implantation-associated protein
oligosaccharyl transferase subunit MAGT1
oligosaccharyltransferase 3 homolog B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016390.1 RefSeqGene

    Range
    5001..74205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_353

mRNA and Protein(s)

  1. NM_001367916.1 → NP_001354845.1  magnesium transporter protein 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL138743, BC041014, BC060842, DC329979
    Consensus CDS
    CCDS94636.1
    UniProtKB/Swiss-Prot
    B2RAR4, D3DTE3, Q53G00, Q6P577, Q8NBN6, Q9H0U3
    UniProtKB/TrEMBL
    A0A8I5KYH1
    Related
    ENSP00000480732.1, ENST00000618282.5
    Conserved Domains (1) summary
    pfam04756
    Location:42 → 330
    OST3_OST6; OST3 / OST6 family, transporter family

  2. NM_032121.5 → NP_115497.4  magnesium transporter protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    BC041014, BC060842, DC329979
    Consensus CDS
    CCDS14436.2
    UniProtKB/TrEMBL
    A0A087WU53, B4DH58
    Related
    ENSP00000354649.6, ENST00000358075.11
    Conserved Domains (2) summary
    cd02947
    Location:93 → 203
    TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...
    pfam04756
    Location:199 → 348
    OST3_OST6; OST3 / OST6 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    77825747..77895568 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    76263304..76330626 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0U3.1 GenPept UniProtKB/Swiss-Prot:Q9H0U3

Gene LinkOut

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