MAGT1 magnesium transporter 1 [Homo sapiens (human)] - Gene

Summary

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: Xq21.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (77825747..77895568, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (76263304..76330626, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (77081244..77151065, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum.
Title: HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum.
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.
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.
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.
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.
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.
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.
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.
microRNA-199a-5p suppresses glioma progression by inhibiting MAGT1.
Title: microRNA-199a-5p suppresses glioma progression by inhibiting MAGT1.
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.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital disorder of glycosylation MedGen: C0282577 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs
Congenital disorder of glycosylation, type ICC MedGen: C5231393 OMIM: 301031 GeneReviews: Not available	Compare labs
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MedGen: C3275445 OMIM: 300853 GeneReviews: Not available	Compare labs

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

DXS7802 (e-PCR)
- UniSTS:47126

L17705 (e-PCR)
- UniSTS:66091

D1S1361 (e-PCR)
- UniSTS:149557

WI-17398 (e-PCR)
- UniSTS:63855

MARC_15757-15758:1017937100:1 (e-PCR)
- UniSTS:267894

MARC_15757-15758:1032284972:3 (e-PCR)
- UniSTS:267894

DXS7160 (e-PCR)
- UniSTS:47775

G20677 (e-PCR)
- UniSTS:25315

A006B26 (e-PCR)
- UniSTS:25316

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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
acts_upstream_of_or_within magnesium ion transport	IMP Inferred from Mutant Phenotype 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 more info	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

Go to the top of the page Help

Preferred Names: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1

Names: implantation-associated protein; oligosaccharyl transferase subunit MAGT1; oligosaccharyltransferase 3 homolog B

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_016390.1 RefSeqGene

Range

5001..74205

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_353

mRNA and Protein(s)

NM_001367916.1 → NP_001354845.1 dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 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
NM_032121.5 → NP_115497.4 dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 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