MAGT1 - magnesium transporter 1 Gene

Also Known as IAP; XMEN; MRX95; OST3B; CDG1CC; PRO0756; SLC58A1; bA217H1.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84061

About MAGT1

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:77,825,747-77,895,568 (from NCBI)

This gene has 13 transcripts (splice variants), 204 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 54.7), kidney (RPKM 22.6) and 25 other tissues.

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]

MAGT1 Products (2)

mRNA	Protein	Name
NM_001367916.1	NP_001354845.1	magnesium transporter protein 1 isoform 1 precursor
NM_032121.5	NP_115497.4	magnesium transporter protein 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables magnesium ion transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	19717468	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cognition	IMP IMP: Inferred from mutant phenotype	18455129	GOA
involved in magnesium ion transport	IMP IMP: Inferred from mutant phenotype	19717468	GOA
involved in protein N-linked glycosylation	IDA IDA: Inferred from direct assay	31831667	GOA
involved in protein N-linked glycosylation	IMP IMP: Inferred from mutant phenotype	31036665	GOA
involved in protein N-linked glycosylation via asparagine	IMP IMP: Inferred from mutant phenotype	25135935	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	25135935	GOA
part of oligosaccharyltransferase complex	IDA IDA: Inferred from direct assay	15835887	GOA
part of oligosaccharyltransferase complex	IPI IPI: Inferred from physical interaction	31831667	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAGT1 Protein Structure

OST3_OST6

0
100
200
300
367 a.a.

Protein Preferred Names	Protein Names
magnesium transporter protein 1	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1

Related Diseases

Diseases	Alias
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	XMEN X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia Cid Due To Magt1 Deficiency Combined Immunodeficiency Due To Magt1 Deficiency X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia
Congenital Disorder Of Glycosylation, Type Icc	CDG1CC Congenital Disorder Of Glycosylation Icc Congenital Disorder Of Glycosylation Type Icc Congenital Disorder Of Glycosylation 1cc Glycosylation, Congenital Disorder Of, Type Icc
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Lymphoproliferative Syndrome 2	Cd27 Deficiency LPFS2 Combined Immunodeficiency Due To Cd27 Deficiency Autosomal Recessive Lymphoproliferative Disease Due To Cd27 Deficiency
Coronin-1a Deficiency
Immunodeficiency 20	Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxicity IMD20 Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Nk Cell Cytotoxicity Cd16 Deficiency Immunodeficiency, Type 20
Lymphopenia	Lymphocytopenia
Immunodeficiency 60	Bach2-Related Immunodeficiency And Autoimmunity Brida Imd60
Selective Immunoglobulin Deficiency Disease
Chromosome 15q11.2 Deletion Syndrome	15q11.2 Microdeletion Syndrome 15q11.2 Bp1-Bp2 Microdeletion Syndrome Del(15)(Q11.2) Monosomy 15q11.2 15q11.2 Microdeletion Chromosome 15q11.2 Deletion Chromosome 15q11.2 Microdeletion Chromosome Deletion Syndrome 15q11.2 Microdeletion 15q11.2 Duplication 15q11-Q13 Syndrome
Ras-Associated Autoimmune Leukoproliferative Disorder	RALD Autoimmune Lymphoproliferative Syndrome Type 4 Alps4 Autoimmune Lymphoproliferative Syndrome, Type Iv Ras-Associated Autoimmune Leukoproliferative Disease Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic Alps Type 4 Alps Type Iv Autoimmune Lymphoproliferative Syndrome Type Iv Autoimmune Lymphoproliferative Syndrome 4
Lymphoproliferative Syndrome, X-Linked, 2	XLP2 Xiap Deficiency X-Linked Lymphoproliferative Syndrome 2 X-Linked Lymphoproliferative Disease Due To Xiap Deficiency Xiap-Related Lymphoproliferative Disease, X-Linked X-Linked Lymphoproliferative Syndrome Type 2 Xiap Deficiency Syndrome
Dysgammaglobulinemia
Lymphoproliferative Syndrome, X-Linked, 1	Lymphomatoid Papulosis Duncan Disease Purtilo Syndrome X-Linked Lymphoproliferative Syndrome Xlp X-Linked Lymphoproliferative Disease XLP1 Lyp Lymphoproliferative Disease, X-Linked Xlpd X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency Ebv Infection, Severe, Susceptibility To Ebvs Immunodeficiency 5 Imd5 X-Linked Lymphoproliferative Syndrome 1 Epstein-Barr Virus Infection, Familial Fatal Ebv Infection, Severe Infectious Mononucleosis, Severe Infectious Mononucleosis, Severe, Susceptibility To Immunodeficiency, X-Linked Progressive Combined Variable Epstein Barr Virus Infection, Familial Fatal X-Linked Progressive Combined Variable Immunodeficiency 5 Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males Familial Fatal Epstein-Barr Infection Severe Susceptibility To Ebv Infection Severe Susceptibility To Infectious Mononucleosis Sap Deficiency Sh2d1a/Slam-Associated Protein Deficiency X-Linked Lymphoproliferative Syndrome Type 1 X-Linked Progressive Combined Variable Immunodeficiency Lymphoproliferative Syndrome, X-Linked Sap X-Linked Lymphoproliferative Disorder
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Immunodeficiency 14	Activated Pi3k-Delta Syndrome Apds Pasli Disease Imd14 Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency
Immunodeficiency 13	Idiopathic Cd4 Lymphopenia IMD13 Icl Immunodeficiency, Type 13
Hemophagocytic Lymphohistiocytosis	Lymphohistiocytosis, Hemophagocytic Haemophagocytic Syndrome Lymphohistiocytosis Hemophagocytic Hemophagocytic Syndrome Familial Hemophagocytic Lymphocytosis Histiocytoses Of Mononuclear Phagocytes Haemophagocytic Lymphohistiocytosis Nos
Autoimmune Lymphoproliferative Syndrome	ALPS Canale-Smith Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia Autoimmune Lymphoproliferative Syndrome, Type Ib Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant Css Autoimmune Lymphoproliferative Syndrome, Type 1b Autoimmune Lymphoproliferative Syndrome, Type 1a Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Fas Deficiency Autoimmune Lymphoproliferative Syndrome 1a ALPS1A Autoimmune Lymphoproliferative Syndrome Type Ia Autoimmune Lymphoproliferative Syndrome 1b ALPS1B Autoimmune Lymphoproliferative Syndrome Type Ib
Epidermodysplasia Verruciformis 1	Epidermodysplasia Verruciformis Epidermodysplasia Verruciformis, Susceptibility To, 1 Lutz-Lewandowsky Epidermodysplasia Verruciformis EV1 Lewandowsky-Lutz Syndrome Ev
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
Omenn Syndrome	Histiocytic Medullary Reticulosis Severe Combined Immunodeficiency With Hypereosinophilia Combined Immunodeficiency With Hypereosinophilia Reticuloendotheliosis, Familial, With Eosinophilia Reticuloendotheliosis Familial With Eosinophilia Familial Reticuloendotheliosis Omenn'S Syndrome OS Malignant Histiocytosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07987	MAGT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21638	Magt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28156	Magt1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MAGT1	MGD	MGI:1914325
Felis catus	MAGT1	VGNC	VGNC:63367
Macaca mulatta	MAGT1	VGNC	VGNC:74386
Bos taurus	MAGT1	VGNC	VGNC:31149
Canis familiaris	MAGT1	VGNC	VGNC:42930
Rattus norvegicus	MAGT1	RGD	RGD:620094
Others	MAGT1	NCBI