ALG11 - ALG11 alpha-1,2-mannosyltransferase Gene

中文名称：ALG11 α-1,2-甘露糖基转移酶

种属: Homo sapiens

同用名: GT8; CDG1P

基因 ID: 440138 | 基因类型: protein coding

关于 ALG11

Cytogenetic location: 13q14.3 Genomic coordinates (GRCh38): 13:52,012,398-52,033,600 (from NCBI)

This gene has 18 transcripts (splice variants), 252 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 12.1), kidney (RPKM 8.8) and 25 other tissues.

功能概要

该基因编码 GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase，定位于内质网 (ER) 的胞质侧，催化 GDP-甘露糖 (GDP) 的第四和第五个甘露糖残基的转移-Man) 转化为 Man3GlcNAc2-PP-dolichol 和 Man4GlcNAc2-PP-dolichol，导致产生 Man5GlcNAc2-PP-dolichol。该基因的突变与糖基化 IP 型先天性疾病 (CDGIP) 有关。该基因重叠但不同于 UTP14、U3 小核仁核糖核蛋白、同系物 C (酵母) 基因。已在 19 号染色体上鉴定出 GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase 的假基因。[RefSeq 提供，2010 年 8 月]

This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type IP (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]

ALG11 基因产物(1)

mRNA	Protein	Name
NM_001004127.3	NP_001004127.2	GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase

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 GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity	IDA IDA: 通过直接分析推断	20080937	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	33961781	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in dolichol-linked oligosaccharide biosynthetic process	IMP IMP: 通过突变表型推断	20080937	GOA
involved in protein N-linked glycosylation	IMP IMP: 通过突变表型推断	20080937	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	20080937	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

ALG11 蛋白结构

Glycos_transf_1

0
100
200
300
400
492 a.a.

蛋白主名

其他名称

GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase

GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase

关联疾病

疾病名称

别名

Congenital Disorder Of Glycosylation, Type Ip

CDG1P	Congenital Disorder Of Glycosylation Ip
Congenital Disorder Of Glycosylation 1p	Alg11-Cdg
Cdg-Ip	Congenital Disorder Of Glycosylation Type Ip
Cdg Syndrome Type Ip	Carbohydrate Deficient Glycoprotein Syndrome Type Ip
Congenital Disorder Of Glycosylation Type 1p	Cdgip
Cdg Ip	Glycosylation, Congenital Disorder Of, Type Ip

Congenital Disorder Of Glycosylation, Type Iiq

CDG2Q	Cdg Iiq
Cdgiiq	Congenital Disorder Of Glycosylation Type Iiq
Cog2-Cdg	Cog2-Related Congenital Disorder Of Glycosylation
Cdgiidq	Congenital Disorder Of Glycosylation 2q
Cdg-Iiq

Nemaline Myopathy 11, Autosomal Recessive

NEM11

Nemaline Myopathy 11

Developmental And Epileptic Encephalopathy 36

Congenital Disorder Of Glycosylation Type I	Epileptic Encephalopathy, Early Infantile, 36
Congenital Disorder Of Glycosylation, Type Is	Cdg1s
Congenital Disorder Of Glycosylation, Type Ie	CDG1E
Congenital Disorder Of Glycosylation Type 1e	DEE36
Eiee36	Cdg Is
Cdgis	Congenital Disorder Of Glycosylation Ie
Congenital Disorder Of Glycosylation 1e	Cdg-Is
Congenital Disorder Of Glycosylation Type Is	Developmental And Epileptic Encephalopathy, 36
Cdg Ie	Cdgie
Early Infantile Epileptic Encephalopathy 36	Alg13-Cdg
Cdg Syndrome Type Is	Congenital Disorder Of Glycosylation Type 1s
Dpm1-Cdg	Cdg Syndrome Type Ie
Cdg-Ie	Carbohydrate Deficient Glycoprotein Syndrome Type Ie
Congenital Disorder Of Glycosylation Type Ie	Dol-P-Mannosyltransferase Deficiency
Congenital Disorder Of Glycosylation 1s	Glycosylation, Congenital Disorder Of, Type I
Glycosylation, Congenital Disorder Of, Type Ie	Congenital Disorder Of Glycosylation Type 1a
Congenital Disorder Of Glycosylation, Type Iu

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii	CDG2E
Congenital Disorder Of Glycosylation Type Iie	IMD47
Cdg2s	Cdg Iis
Cdgiis	Immunodeficiency And Hepatopathy With Or Without Neurologic Features
Congenital Disorder Of Glycosylation, Type Ii	CDG1I
Congenital Disorder Of Glycosylation, Type Iie	Cdg Iie
Congenital Disorder Of Glycosylation Type 2e	Congenital Disorder Of Glycosylation, Type Iis
Cdg Ii	Cdgii
Cdgiie	Carbohydrate Deficient Glycoprotein Syndrome Type Iie
Cdg Syndrome Type Iie	Congenital Disorder Of Glycosylation Ii
Congenital Disorder Of Glycosylation 1i	Cdg-Iie
Alg2-Cdg	Cdg-Ii
Glycosylation, Congenital Disorder Of, Type Ii	Cdgiide
Congenital Disorder Of Glycosylation Type Iis	Cog7-Cdg
Cdg Syndrome Type Ii	Carbohydrate Deficient Glycoprotein Syndrome Type Ii
Congenital Disorder Of Glycosylation Type 1i	Mannosyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2e	Congenital Disorder Of Glycosylation 2s
Congenital Disorders Of Glycosylation Type Ii	Glycosylation, Congenital Disorder Of, Type Iie
Immunodeficiency, Type 47	Congenital Disorder Of Glycosylation Type 2a

Conventional Lipoma

Classic Type Lipoma

Nemaline Myopathy 10

NEM10

Myopathy, Nemaline, Type 10

Congenital Disorder Of Glycosylation, Type Iia

CDG2A	Congenital Disorder Of Glycosylation Type Iia
Cdg Iia	Cdgiia
Congenital Disorder Of Glycosylation Type 2a	Alkuraya Syndrome
Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth	Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii
Mgat2-Cdg	Cdg-Iia
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly	Cdgs2, Formerly
Cdgs2	Cdg Syndrome Type Iia
Carbohydrate Deficient Glycoprotein Syndrome Type Iia	N-Acetylglucosaminyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2a	Carbohydrate-Deficient Glycoprotein Syndrome Type Ii
Cdgs Type Ii	Carbohydrate-Deficient Glycoprotein Syndrome Type 2
Glycosylation, Congenital Disorder Of, Type Iia

Fructose-1,6-Bisphosphatase Deficiency

Fructose-1,6-Diphosphatase Deficiency	Baker-Winegrad Disease
FBP1D	Fbpase Deficiency
Fructose 1,6 Diphosphatase Deficiency	Fructose 1 Phosphate Aldolase Deficiency
Fbp1 Deficiency	Hereditary Fructose Intolerance Syndrome

Immunodeficiency 23

Cid Due To Pgm3 Deficiency	Combined Immunodeficiency Due To Pgm3 Deficiency
Pgm3-Cdg	Pgm3-Related Congenital Disorder Of Glycosylation
IMD23	Immunodeficiency With Hyper Ige And Cognitive Impairment
Immunodeficiency-Vasculitis-Myoclonus Syndrome	Ivms
Phosphoglucomutase 3 Deficiency	Phosphoglucomutase Deficiency Type 3
Pgm3-Congenital Disorder Of Glycosylation	Agm1 Deficiency
Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1	Deficiency Of Phosphoglucomutase 3
Pgm3 Deficiency	Immunodeficiency, Type 23

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

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00588	ALG11 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21478	Alg11 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS27996	Alg11 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	ALG11	RGD	RGD:1564725
Felis catus	ALG11	VGNC	VGNC:59742
Mus musculus	ALG11	MGD	MGI:2142632
Bos taurus	ALG11	VGNC	VGNC:25824
Canis familiaris	ALG11	VGNC	VGNC:37794
Macaca mulatta	ALG11	VGNC	VGNC:106249

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站点地图隐私声明

粤ICP备2021105330号-3

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

ALG11 - ALG11 alpha-1,2-mannosyltransferase Gene

关于 ALG11

功能概要

ALG11 基因产物(1)

ALG11 蛋白结构

关联疾病

直系同源

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ALG11 - ALG11 alpha-1,2-mannosyltransferase Gene

关于 ALG11

功能概要

ALG11 基因产物(1)

ALG11 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z