Human Gene MAGT1 (ENST00000618282.5_8) from GENCODE V47lift37
  Description: magnesium transporter 1, transcript variant 1 (from RefSeq NM_001367916.1)
Gencode Transcript: ENST00000618282.5_8
Gencode Gene: ENSG00000102158.22_12
Transcript (Including UTRs)
   Position: hg19 chrX:77,081,244-77,150,932 Size: 69,689 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chrX:77,084,717-77,150,907 Size: 66,191 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:77,081,244-77,150,932)mRNA (may differ from genome)Protein (335 aa)
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-  Comments and Description Text from UniProtKB
  ID: MAGT1_HUMAN
DESCRIPTION: RecName: Full=Magnesium transporter protein 1; Short=MagT1; AltName: Full=Implantation-associated protein; Short=IAP; Flags: Precursor;
FUNCTION: May be involved in N-glycosylation through its association with N-oligosaccharyl transferase. May be involved in Mg(2+) transport in epithelial cells.
SUBUNIT: Weakly associates with the oligosaccharyl transferase (OST) complex which contains at least RPN1/ribophorin I, RPN2/ribophorin II, OST48, DAD1, and either STT3A or STT3B (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable).
TISSUE SPECIFICITY: Ubiquitous. Expressed at very low levels in brain, lung and kidney.
INDUCTION: Up-regulated by low extracellular Mg(2+).
DISEASE: Defects in MAGT1 are the cause of mental retardation X- linked type 95 (MRX95) [MIM:300716]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation.
DISEASE: Defects in MAGT1 are the cause of immunodeficiency X- linked with magnesium defect Epstein-Barr virus infection and neoplasia (XMEN) [MIM:300853]. XMEN is a disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T- lymphocyte activation.
SIMILARITY: Belongs to the OST3/OST6 family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAGT1
Diseases sorted by gene-association score: immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia* (1270), x-linked magnesium deficiency with epstein-barr virus infection and neoplasia* (500), lymphoproliferative syndrome 2 (9), selective immunoglobulin deficiency disease (8), alpha thalassemia-x-linked intellectual disability syndrome (7), dysgammaglobulinemia (6), evans' syndrome (6), lymphopenia (6), intellectual disability (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00250.000 Picture PostScript Text
3' UTR -1106.903473-0.319 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006844 - Mg_transporter-1
IPR021149 - OligosaccharylTrfase_OST3/OST6
IPR012336 - Thioredoxin-like_fold

Pfam Domains:
PF04756 - OST3 / OST6 family, transporter family

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
52833 - Thioredoxin-like

ModBase Predicted Comparative 3D Structure on Q9H0U3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015095 magnesium ion transmembrane transporter activity
GO:0004579 dolichyl-diphosphooligosaccharide-protein glycotransferase activity

Biological Process:
GO:0006486 protein glycosylation
GO:0006487 protein N-linked glycosylation
GO:0015693 magnesium ion transport
GO:0018279 protein N-linked glycosylation via asparagine
GO:0043312 neutrophil degranulation
GO:0050890 cognition
GO:0055085 transmembrane transport
GO:1903830 magnesium ion transmembrane transport

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008250 oligosaccharyltransferase complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0035577 azurophil granule membrane


-  Descriptions from all associated GenBank mRNAs
  BC018447 - Homo sapiens implantation-associated protein, mRNA (cDNA clone IMAGE:4515677), partial cds.
BC060842 - Homo sapiens magnesium transporter 1, mRNA (cDNA clone MGC:71748 IMAGE:30338916), complete cds.
AK027632 - Homo sapiens cDNA FLJ14726 fis, clone NT2RP3001727, highly similar to Rattus norvegicus implantation-associated protein (IAG2) mRNA.
AK172735 - Homo sapiens cDNA PSEC0184 fis, clone: OVARC1001983.
BC016342 - Homo sapiens implantation-associated protein, mRNA (cDNA clone IMAGE:3932289), partial cds.
BC041014 - Homo sapiens magnesium transporter 1, mRNA (cDNA clone MGC:20682 IMAGE:3834858), complete cds.
AY358691 - Homo sapiens clone DNA64883 implantation-associated protein (UNQ628) mRNA, complete cds.
AL136636 - Homo sapiens mRNA; cDNA DKFZp564K142 (from clone DKFZp564K142).
DQ000004 - Homo sapiens MAGT1 (DKFZp564K142) mRNA, complete cds.
AK075394 - Homo sapiens cDNA PSEC0084 fis, clone NT2RP2005970, highly similar to IMPLANTATION-ASSOCIATED PROTEIN.
JD447401 - Sequence 428425 from Patent EP1572962.
JD324401 - Sequence 305425 from Patent EP1572962.
JD322957 - Sequence 303981 from Patent EP1572962.
JD307943 - Sequence 288967 from Patent EP1572962.
JD307079 - Sequence 288103 from Patent EP1572962.
JD435314 - Sequence 416338 from Patent EP1572962.
JD434905 - Sequence 415929 from Patent EP1572962.
JD529876 - Sequence 510900 from Patent EP1572962.
JD430556 - Sequence 411580 from Patent EP1572962.
JD238302 - Sequence 219326 from Patent EP1572962.
JD238303 - Sequence 219327 from Patent EP1572962.
JD565945 - Sequence 546969 from Patent EP1572962.
JD135712 - Sequence 116736 from Patent EP1572962.
JD470729 - Sequence 451753 from Patent EP1572962.
JD339854 - Sequence 320878 from Patent EP1572962.
JD283294 - Sequence 264318 from Patent EP1572962.
JD545168 - Sequence 526192 from Patent EP1572962.
JD404822 - Sequence 385846 from Patent EP1572962.
JD453950 - Sequence 434974 from Patent EP1572962.
JD509029 - Sequence 490053 from Patent EP1572962.
JD105414 - Sequence 86438 from Patent EP1572962.
JD517275 - Sequence 498299 from Patent EP1572962.
JD140303 - Sequence 121327 from Patent EP1572962.
JD057404 - Sequence 38428 from Patent EP1572962.
JD100606 - Sequence 81630 from Patent EP1572962.
JD247089 - Sequence 228113 from Patent EP1572962.
JD182687 - Sequence 163711 from Patent EP1572962.
JD331893 - Sequence 312917 from Patent EP1572962.
JD175665 - Sequence 156689 from Patent EP1572962.
JD066628 - Sequence 47652 from Patent EP1572962.
JD240174 - Sequence 221198 from Patent EP1572962.
JD083805 - Sequence 64829 from Patent EP1572962.
JD313480 - Sequence 294504 from Patent EP1572962.
JD284900 - Sequence 265924 from Patent EP1572962.
JD481564 - Sequence 462588 from Patent EP1572962.
JD426046 - Sequence 407070 from Patent EP1572962.
JD350065 - Sequence 331089 from Patent EP1572962.
JD410137 - Sequence 391161 from Patent EP1572962.
JD359941 - Sequence 340965 from Patent EP1572962.
JD417744 - Sequence 398768 from Patent EP1572962.
JD417743 - Sequence 398767 from Patent EP1572962.
JD548143 - Sequence 529167 from Patent EP1572962.
JD143519 - Sequence 124543 from Patent EP1572962.
JD275604 - Sequence 256628 from Patent EP1572962.
JD275603 - Sequence 256627 from Patent EP1572962.
JD556365 - Sequence 537389 from Patent EP1572962.
JD551647 - Sequence 532671 from Patent EP1572962.
JD340634 - Sequence 321658 from Patent EP1572962.
JD179474 - Sequence 160498 from Patent EP1572962.
JD291587 - Sequence 272611 from Patent EP1572962.
JD431193 - Sequence 412217 from Patent EP1572962.
JD206129 - Sequence 187153 from Patent EP1572962.
JD283856 - Sequence 264880 from Patent EP1572962.
JD128827 - Sequence 109851 from Patent EP1572962.
JD405440 - Sequence 386464 from Patent EP1572962.
JD479416 - Sequence 460440 from Patent EP1572962.
JD407808 - Sequence 388832 from Patent EP1572962.
JD152393 - Sequence 133417 from Patent EP1572962.
JD541297 - Sequence 522321 from Patent EP1572962.
JD512450 - Sequence 493474 from Patent EP1572962.
JD427659 - Sequence 408683 from Patent EP1572962.
JD467428 - Sequence 448452 from Patent EP1572962.
JD141028 - Sequence 122052 from Patent EP1572962.
JD235151 - Sequence 216175 from Patent EP1572962.
JD450073 - Sequence 431097 from Patent EP1572962.
JD564713 - Sequence 545737 from Patent EP1572962.
JD357782 - Sequence 338806 from Patent EP1572962.
AK296743 - Homo sapiens cDNA FLJ55087 complete cds, highly similar to Implantation-associated protein precursor.
JD293869 - Sequence 274893 from Patent EP1572962.
AK223131 - Homo sapiens mRNA for implantation-associated protein variant, clone: KDN01152.
JD509057 - Sequence 490081 from Patent EP1572962.
JD314747 - Sequence 295771 from Patent EP1572962.
JD023786 - Sequence 4810 from Patent EP1572962.
JD034807 - Sequence 15831 from Patent EP1572962.
AK294943 - Homo sapiens cDNA FLJ56344 complete cds, highly similar to Implantation-associated protein precursor.
AK314309 - Homo sapiens cDNA, FLJ95066.
EU831642 - Synthetic construct Homo sapiens clone HAIB:100066671; DKFZo007F0419 magnesium transporter 1 protein (MAGT1) gene, encodes complete protein.
HQ448546 - Synthetic construct Homo sapiens clone IMAGE:100071982; CCSB010861_01 implantation-associated protein (MAGT1) gene, encodes complete protein.
KJ903374 - Synthetic construct Homo sapiens clone ccsbBroadEn_12768 MAGT1 gene, encodes complete protein.
KR710974 - Synthetic construct Homo sapiens clone CCSBHm_00018462 MAGT1 (MAGT1) mRNA, encodes complete protein.
EU831726 - Synthetic construct Homo sapiens clone HAIB:100066755; DKFZo003F0420 magnesium transporter 1 protein (MAGT1) gene, encodes complete protein.
CU687464 - Synthetic construct Homo sapiens gateway clone IMAGE:100021087 5' read DKFZp564K142 mRNA.
BC050657 - Homo sapiens magnesium transporter 1, mRNA (cDNA clone IMAGE:4344970), with apparent retained intron.
BC063037 - Homo sapiens magnesium transporter 1, mRNA (cDNA clone IMAGE:4344952), complete cds.
KJ903375 - Synthetic construct Homo sapiens clone ccsbBroadEn_12769 MAGT1 gene, encodes complete protein.
CU687640 - Synthetic construct Homo sapiens gateway clone IMAGE:100021565 5' read DKFZp564K142 mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H0U3 (Reactome details) participates in the following event(s):

R-HSA-6798739 Exocytosis of azurophil granule membrane proteins
R-HSA-5339538 MAGT1 transports Mg2+ from extracellular region to cytosol
R-HSA-446209 Transfer of N-glycan to the protein
R-HSA-6798695 Neutrophil degranulation
R-HSA-5223345 Miscellaneous transport and binding events
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-168249 Innate Immune System
R-HSA-382551 Transport of small molecules
R-HSA-597592 Post-translational protein modification
R-HSA-168256 Immune System
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAR4, D3DTE3, ENST00000618282.1, ENST00000618282.2, ENST00000618282.3, ENST00000618282.4, IAG2, MAGT1 , MAGT1_HUMAN, NM_001367916, PSEC0084, Q53G00, Q6P577, Q8NBN6, Q9H0U3, uc327rpz.1, uc327rpz.2, UNQ628/PRO1244
UCSC ID: ENST00000618282.5_8
RefSeq Accession: NM_001367916.1
Protein: Q9H0U3 (aka MAGT1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MAGT1:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.