MAGT1 - magnesium transporter 1 Gene

Homo sapiens

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

Gene ID: 84061 | Gene type: protein coding

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	Reference	Source
enables magnesium ion transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	19717468	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07987	MAGT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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