Aliases for MAGT1 Gene
Aliases for MAGT1 Gene
External Ids for MAGT1 Gene
- HGNC: 28880
- Entrez Gene: 84061
- Ensembl: ENSG00000102158
- OMIM: 300715
- UniProtKB: 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 In. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 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 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
- Monarch Initiative
- Search for MAGT1 at DataMed
- Search for MAGT1 at HumanCyc
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ077893 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 650.7 | +0.3 | 320 | 2.9 | PKNOX1 ATF1 FOXA2 ARID4B SIN3A GLI4 ZNF2 IRF4 BRCA1 ZNF48 | MAGT1 RN7SL460P | |
| GH0XJ078746 | Promoter/Enhancer | 1.2 | EPDnew Ensembl ENCODE | 4.3 | -852.2 | -852154 | 3.2 | LPAR4 ITM2A MAGT1 RPL7P54 | ||
| GH0XJ077527 | 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 from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around MAGT1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MAGT1 gene promoter:
-
- N-Myc
- POU2F1a
- POU2F1
- NF-Y
- CBF(2)
- TGIF
Regulatory Element Products
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)
- 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 Entrez Gene
- Xq21.1 by HGNC
- 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:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for MAGT1
- Novus Biologicals Antibodies for MAGT1
-
Abcam antibodies for MAGT1
- Invitrogen Antibodies for MAGT1 (AFLGC-MAGT1)
- GeneTex MAGT1 Antibody for MAGT1
-
Boster Bio Antibodies for MAGT1
Protein Products
-
OriGene Purified Proteins for MAGT1
- Search Origene for MassSpec and Protein Over-expression Lysates for MAGT1
- Origene Custom Protein Services for MAGT1
- Search GeneTex for Proteins for MAGT1
Assay 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 membrane proteins
- Predicted secreted proteins
- Transporters
Protein Domains for MAGT1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for MAGT1 Gene
- GenScript: Design optimal peptide antigens:
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:0004579 | contributes_to dolichyl-diphosphooligosaccharide-protein glycotransferase activity | IBA | -- |
| GO:0005515 | protein binding | IPI | 26638075 |
| GO:0015095 | magnesium ion transmembrane transporter activity | TAS | -- |
Phenotypes for MAGT1 Gene
- MGI mutant phenotypes for MAGT1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MAGT1:
Animal Model Products
-
Taconic Biosciences Mouse Models for MAGT1
- Cyagen custom Knockout/knockin (KOKI) mouse models for MAGT1
-
CRISPR Products
-
OriGene CRISPR knockouts for MAGT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAGT1
- genomics-online: gRNA clones - Search results for available MAGT1 gene related products
- Applied Biological Materials CRISPR for MAGT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAGT1
- GenScript: Design CRISPR guide RNA sequences for MAGT1
miRNA for MAGT1 Gene
- miRTarBase miRNAs that target MAGT1
-
- hsa-mir-124-3p (MIRT001828)
- hsa-mir-26b-5p (MIRT029002)
- 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available MAGT1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MAGT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAGT1
- genomics-online: cdna clones - Search results for available MAGT1 gene related products
- orf clones - Search results for available MAGT1 gene related products
- Applied Biological Materials Clones for MAGT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 |
| extracellular | 1 |
| golgi apparatus | 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 | 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 | 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
- (1) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (289) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000358075 4047 bps (uc004fof.4)
- ENST00000618282 2788 bps (uc065abq.1)
- ENST00000476168 959 bps (uc065abs.1)
- ENST00000373336 962 bps (uc065abt.1)
- ENST00000610432 4019 bps (uc065abp.1)
Unigene Clusters for MAGT1 Gene
- Magnesium transporter 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MAGT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAGT1
- genomics-online: gRNA clones - Search results for available MAGT1 gene related products
- Applied Biological Materials CRISPR for MAGT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAGT1
- GenScript: Design CRISPR guide RNA sequences for MAGT1
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available MAGT1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MAGT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAGT1
- genomics-online: cdna clones - Search results for available MAGT1 gene related products
- orf clones - Search results for available MAGT1 gene related products
- Applied Biological Materials Clones for MAGT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for MAGT1 Gene
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
NURSA nuclear receptor signaling pathways regulating expression of MAGT1 Gene:
MAGT1SOURCE 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(4.7)
- 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
Primer Products
-
OriGene qPCR primer pairs for MAGT1
-
OriGene qPCR primer pairs and template standards for MAGT1
- genomics-online: primer clones - Search results for available MAGT1 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MAGT1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MAGT1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MAGT1 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Magt1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Magt1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MAGT1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MAGT1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MAGT1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | magt1 33 |
|
||
| Str.15570 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | magt1 34 33 |
|
OneToOne | |
| wufc49b02 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9275 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7830 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | ZK686.3 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | OST3 36 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10969 34 |
|
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)
- 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
| 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 |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAGT1 Gene
Disorders for MAGT1 Gene
(7) MalaCards diseases for MAGT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia |
|
|
| congenital disorder of glycosylation, type in |
|
|
| lymphoproliferative syndrome 2 |
|
|
| selective immunoglobulin deficiency disease |
|
|
| alpha thalassemia-x-linked intellectual disability syndrome |
|
|
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
No data available for Genatlas for MAGT1 Gene
Publications for MAGT1 Gene
- 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
- 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
- Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. (PMID: 21796205) Li FY … Lenardo MJ (Nature 2011) 3 4 58
- 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
- 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
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for MAGT1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for MAGT1
- Search Origene for MassSpec and Protein Over-expression Lysates for MAGT1
- Origene Custom Protein Services for MAGT1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAGT1
- Browse OriGene Inhibitory RNA Products For MAGT1
- OriGene qPCR primer pairs for MAGT1
- OriGene qPCR primer pairs and template standards for MAGT1
- OriGene CRISPR knockouts for MAGT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MAGT1
- GenScript: Next-day shipping of latest version cDNA ORF clones for MAGT1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for MAGT1
- GenScript Custom Assay Services for MAGT1
- GenScript Custom overexpressing Cell Line Services for MAGT1
- GenScript: Design CRISPR guide RNA sequences for MAGT1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for MAGT1
- Sino Biological Human cDNA Clone for MAGT1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MAGT1
- Novus Biologicals proteins and lysates for MAGT1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for MAGT1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for MAGT1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for MAGT1 (AFLGC-MAGT1)
- Cyagen custom Knockout/knockin (KOKI) mouse models for MAGT1
- antibodies-online: Search results for 30 available MAGT1 Antibodies ranked by validation data
- Compare Top MAGT1 Antibodies
- antibodies-online: Search results for 4 available MAGT1 Elisa Kits ranked by validation data
- Compare Top MAGT1 Elisa Kits
- antibodies-online: Search results for 4 available MAGT1 Proteins ranked by validation data
- Compare Top MAGT1 Proteins
- GeneTex MAGT1 Antibody for MAGT1
- Search GeneTex for Proteins for MAGT1
- Horizon Cell Lines for MAGT1
- genomics-online: cdna clones - Search results for available MAGT1 gene related products
- orf clones - Search results for available MAGT1 gene related products
- genomics-online: gRNA clones - Search results for available MAGT1 gene related products
- genomics-online: primer clones - Search results for available MAGT1 gene related products
- genomics-online: shRNA clones - Search results for available MAGT1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAGT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAGT1
- GeneCopoeia miRNA 3'UTR Target clone products for MAGT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAGT1
- Boster Bio Antibodies for MAGT1
- Browse Boster Bio ELISA Kits
Sources for MAGT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt