2. Gene
  3. MAGT1 - magnesium transporter 1 Gene

MAGT1 - magnesium transporter 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：镁转运体 1

种属: Homo sapiens

同用名: IAP; XMEN; MRX95; OST3B; CDG1CC; PRO0756; SLC58A1; bA217H1.1

基因 ID: 84061 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种普遍表达的镁阳离子转运蛋白，定位于细胞膜。该蛋白质还与 N-寡糖基转移酶相关，因此可能在 N-糖基化中起作用。该基因的突变会导致一种 X 连锁智力障碍 (XLID) 。该基因可能有多个框内翻译起始位点，其中一个将编码一个较短的蛋白质，其 N 末端在氨基酸 1-29 处含有信号肽。[RefSeq 提供，2017 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables magnesium ion transmembrane transporter activity IMP
IMP: 通过突变表型推断
19717468 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cognition IMP
IMP: 通过突变表型推断
18455129 GOA
involved in magnesium ion transport IMP
IMP: 通过突变表型推断
19717468 GOA
involved in protein N-linked glycosylation IDA
IDA: 通过直接分析推断
31831667 GOA
involved in protein N-linked glycosylation IMP
IMP: 通过突变表型推断
31036665 GOA
involved in protein N-linked glycosylation via asparagine IMP
IMP: 通过突变表型推断
25135935 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
25135935 GOA
part of oligosaccharyltransferase complex IDA
IDA: 通过直接分析推断
15835887 GOA
part of oligosaccharyltransferase complex IPI
IPI: 通过物理相互作用推断
31831667 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MAGT1 蛋白结构

OST3_OST6

OST3_OST6: OST3 / OST6 family, transporter family (197 - 349)

  • 0
  • 100
  • 200
  • 300
  • 367 a.a.
蛋白主名 其他名称

magnesium transporter protein 1

dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07987 MAGT1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21638 Magt1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28156 Magt1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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