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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... See more...
Aliases for MAGT1 Gene
Aliases for MAGT1 Gene
External Ids for MAGT1 Gene
- HGNC: 28880
- NCBI Entrez Gene: 84061
- Ensembl: ENSG00000102158
- OMIM®: 300715
- UniProtKB/Swiss-Prot: Q9H0U3
Previous GeneCards Identifiers for MAGT1 Gene
- GC0XM076968
- GC0XM077081
- GC0XM070668
Summaries 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 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.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for MAGT1 Gene
- HGNC (28880)
- NCBI Entrez Gene (84061)
- Ensembl (ENSG00000102158)
- OMIM® (300715)
- UniProtKB/Swiss-Prot (Q9H0U3)
- Open Targets Platform(ENSG00000102158)
- Monarch Initiative
- Search for MAGT1 at DataMed
- Search for MAGT1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAGT1 Gene
Genomics for MAGT1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MAGT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MAGT1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAGT1
- Top Transcription factor binding sites by QIAGEN in the MAGT1 gene promoter:
-
- CBF(2)
- N-Myc
- NF-Y
- POU2F1
- POU2F1a
- TGIF
Genomic Locations for MAGT1 Gene
Latest Assembly
- chrX:77,825,747-77,895,593
- (GRCh38/hg38)
- Size:
- 69,847 bases
- Orientation:
- Minus strand
Previous Assembly
- chrX:77,081,244-77,151,065
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 69,822 bases
- Orientation:
- Minus strand
- chrX:77,081,861-77,151,090
- (GRCh37/hg19 by Ensembl)
- Size:
- 69,230 bases
- Orientation:
- Minus strand
Genomic View for MAGT1 Gene
Genes around MAGT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq21.1 by HGNC
- Xq21.1 by Entrez Gene
- Xq21.1 by Ensembl
MAGT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for MAGT1 Gene
Post-translational modifications for MAGT1 Gene
Other Protein References for MAGT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ MAGT1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for MAGT1
- Novus Biologicals Antibodies for MAGT1
-
Abcam antibodies for MAGT1
- Invitrogen Antibodies for MAGT1 (AFLGC-Magt1)
-
Custom Antibody ServicesProSci Antibodies for MAGT1
Protein products for research
-
OriGene Purified Proteins for MAGT1
- Search Origene for MassSpec and Protein Over-expression Lysates for MAGT1
- Origene Custom Protein Services for MAGT1
- Novus Biologicals proteins for MAGT1
Assay products for research
- antibodies-online: Show 7 available MAGT1 Elisa Kits ranked by validation data
- Compare Top MAGT1 Elisa Kits
-
Quality Products:
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 intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for MAGT1 Gene
- InterPro:
- Blocks:
-
- OST3/OST6
- ProtoNet:
Suggested Antigen Peptide Sequences for MAGT1 Gene
- GenScript: Design optimal peptide antigens:
-
- Implantation-associated protein (MAGT1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9H0U3- Family:
-
- Belongs to the OST3/OST6 family.
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+).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015095 | magnesium ion transmembrane transporter activity | TAS | -- |
Phenotypes for MAGT1 Gene
- MGI mutant phenotypes for MAGT1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for MAGT1:
Animal Models for research
-
Taconic Biosciences Mouse Models for MAGT1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MAGT1 - Starting at $85 >
- * MAGT1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MAGT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAGT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAGT1
miRNA for MAGT1 Gene
- miRTarBase miRNAs that target MAGT1
-
- hsa-miR-124-3p (MIRT001828)
- mmu-miR-9-5p (MIRT015322)
- hsa-miR-26b-5p (MIRT029002)
- mmu-miR-129-5p (MIRT589580)
- mmu-miR-129-2-3p (MIRT589581)
- mmu-miR-129-1-3p (MIRT589582)
- mmu-miR-3064-5p (MIRT589583)
- mmu-miR-3085-3p (MIRT589584)
- mmu-miR-3110-5p (MIRT589585)
- mmu-miR-5125 (MIRT589586)
- mmu-miR-692 (MIRT589587)
- mmu-miR-674-5p (MIRT589588)
- mmu-miR-3473d (MIRT589589)
- mmu-miR-1186b (MIRT589590)
- mmu-miR-1933-3p (MIRT589591)
- mmu-miR-125a-3p (MIRT594871)
- mmu-miR-363-5p (MIRT594872)
- mmu-miR-743b-3p (MIRT594873)
- mmu-miR-743a-3p (MIRT594874)
- mmu-miR-7a-5p (MIRT594875)
- mmu-miR-7b-5p (MIRT594876)
- mmu-miR-704 (MIRT594877)
- mmu-miR-5127 (MIRT598382)
- mmu-miR-150-5p (MIRT598383)
- mmu-miR-105 (MIRT598384)
- mmu-miR-294-3p (MIRT598385)
- mmu-miR-302b-3p (MIRT598386)
- mmu-miR-291a-3p (MIRT598387)
- mmu-miR-302d-3p (MIRT598388)
- mmu-miR-295-3p (MIRT598389)
- mmu-miR-302a-3p (MIRT598390)
- mmu-miR-1186a (MIRT598391)
- mmu-miR-877-5p (MIRT598392)
- mmu-miR-3097-3p (MIRT598393)
- mmu-miR-717 (MIRT598394)
- mmu-miR-362-3p (MIRT598395)
- mmu-miR-5119 (MIRT598396)
- mmu-miR-329-3p (MIRT598397)
- mmu-miR-3071-5p (MIRT598398)
- mmu-miR-3473c (MIRT603773)
- hsa-miR-135b-3p (MIRT656520)
- hsa-miR-7152-5p (MIRT656521)
- hsa-miR-4753-3p (MIRT656522)
- hsa-miR-3682-5p (MIRT656523)
- hsa-miR-143-5p (MIRT656524)
- hsa-miR-3944-5p (MIRT656525)
- hsa-miR-664b-5p (MIRT656526)
- hsa-miR-130b-5p (MIRT656527)
- hsa-miR-1914-5p (MIRT656528)
- hsa-miR-6501-3p (MIRT656529)
- hsa-miR-548e-5p (MIRT656530)
- hsa-miR-1202 (MIRT783123)
- hsa-miR-122-5p (MIRT783154)
- hsa-miR-1267 (MIRT783260)
- hsa-miR-1273f (MIRT783308)
- hsa-miR-1289 (MIRT783402)
- hsa-miR-129-5p (MIRT783528)
- hsa-miR-143-3p (MIRT783807)
- hsa-miR-3135b (MIRT784617)
- hsa-miR-3198 (MIRT784817)
- hsa-miR-3652 (MIRT785010)
- hsa-miR-367-5p (MIRT785194)
- hsa-miR-3972 (MIRT785483)
- hsa-miR-4294 (MIRT785623)
- hsa-miR-4309 (MIRT785690)
- hsa-miR-4423-5p (MIRT785807)
- hsa-miR-4430 (MIRT785838)
- hsa-miR-4534 (MIRT786211)
- hsa-miR-4708-5p (MIRT786478)
- hsa-miR-4755-3p (MIRT786622)
- hsa-miR-4770 (MIRT786692)
- hsa-miR-5006-5p (MIRT786943)
- hsa-miR-504-3p (MIRT787019)
- hsa-miR-5698 (MIRT787816)
- hsa-miR-6088 (MIRT788034)
- hsa-miR-6501-5p (MIRT788218)
- hsa-miR-6514-5p (MIRT788349)
- hsa-miR-6812-3p (MIRT788898)
- hsa-miR-744-3p (MIRT789480)
- hsa-miR-8055 (MIRT789696)
- hsa-miR-8082 (MIRT789837)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAGT1
- Browse OriGene Inhibitory RNA Products For MAGT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAGT1
Clone products for research
- Applied Biological Materials (abm): Clones for MAGT1 - Starting at $45 >
- * MAGT1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MAGT1
- Addgene plasmids for MAGT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAGT1
Cell Lines for research
-
Horizon Cell Lines for MAGT1
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 5 |
| lysosome | 4 |
| golgi apparatus | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAGT1 Gene
Pathways & Interactions for MAGT1 Gene
Pathways by source for MAGT1 Gene
8 Reactome pathways for MAGT1 Gene
UniProtKB/Swiss-Prot Q9H0U3-MAGT1_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for MAGT1 Gene
GPS-Prot Interaction Network for MAGT1
| 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 | -- |
No data available for SIGNOR curated interactions for MAGT1 Gene
Transcripts for MAGT1 Gene
mRNA/cDNA for MAGT1 Gene
- 2 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000358075 4047 nts (view in UCSC)
- ENST00000373336 962 nts (view in UCSC)
- ENST00000476168 959 nts (view in UCSC)
- ENST00000610432 4019 nts (view in UCSC)
- ENST00000618282 4506 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MAGT1 - Starting at $85 >
- * MAGT1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MAGT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAGT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAGT1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAGT1
- Browse OriGene Inhibitory RNA Products For MAGT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAGT1
Clone products for research
- Applied Biological Materials (abm): Clones for MAGT1 - Starting at $45 >
- * MAGT1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MAGT1
- Addgene plasmids for MAGT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAGT1
Relevant External Links for MAGT1 Gene
- GeneLoc Exon Structure for
- MAGT1
Expression for MAGT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Thyroid (Endocrine System)
This gene is overexpressed in Nasal epithelium (41.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAGT1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAGT1
SOURCE GeneReport for Unigene cluster for MAGT1 Gene:
Hs.323562mRNA 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(4.8)
- Adrenal gland(4.2)
- Kidney(2.9)
- Liver(2.6)
- Blood(2.1)
- Heart(2.1)
- Muscle(2.1)
- Spleen(2.1)
- Lymph node(2.1)
- Intestine(2)
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
Primer products for research
-
OriGene qPCR primer pairs for MAGT1
-
OriGene qPCR primer pairs and template standards for MAGT1
Gene Expression Assays for research
No data available for 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.
| 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 |
- Species where no ortholog for MAGT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for MAGT1: view image
Paralogs for MAGT1 Gene
(1) SIMAP similar genes for MAGT1 Gene using alignment to 2 proteins:
- MAGT1_HUMAN
- Q6P577_HUMAN
Pseudogenes.org Pseudogenes for MAGT1 Gene
Variants for MAGT1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAGT1 Gene
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAGT1 Gene
Disorders for MAGT1 Gene
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, ECO:0000269 PubMed:24550228, ECO:0000269 PubMed:25504528, ECO:0000269 PubMed:31036665}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Congenital disorder of glycosylation 1CC (CDG1CC) [MIM:301031]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1CC is an X-linked recessive form mainly characterized by intellectual and developmental disability. {ECO:0000269 PubMed:31036665}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for MAGT1
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for MAGT1 Gene
Publications for MAGT1 Gene
- Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype. (PMID: 31036665) Blommaert E … Matthijs G (Proceedings of the National Academy of Sciences of the United States of America 2019) 3 4 74
- 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
- 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
- XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus. (PMID: 24550228) Li FY … Lenardo MJ (Blood 2014) 4 74
- Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. (PMID: 21796205) Li FY … Lenardo MJ (Nature 2011) 3 4
ExternalLinks
Products for MAGT1 Gene
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Sources for MAGT1 Gene
- (1) GeneCards
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- (4) UniProtKB/Swiss-Prot
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