MAN1B1 - mannosidase alpha class 1B member 1 Gene

中文名称：甘露糖苷酶 alpha 1B 类成员 1

种属: Homo sapiens

同用名: MRT15; ERMAN1; ERManI; MANA-ER

基因 ID: 11253 | 基因类型: protein coding

关于 MAN1B1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,086,985-137,109,183 (from NCBI)

This gene has 40 transcripts (splice variants), 272 orthologues, 6 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 13.4), thyroid (RPKM 13.1) and 25 other tissues.

功能概要

该基因编码一种属于糖基水解酶 47 家族的酶。这种酶在 N-聚糖生物合成中发挥作用，是一种 I 类 alpha-1,2-甘露糖苷酶，可特异性地将 Man9GlcNAc 转化为 Man8GlcNAc 异构体 B。在内质网相关降解中，N-聚糖修饰为 Man5-6GlcNAc2 是必需的途径。该基因的突变会导致常染色体隐性智力障碍。可变剪接导致多个转录本变体。已在 11 号染色体上鉴定出一个相关的假基因。[RefSeq 提供，2011 年 12 月]

This gene encodes an Enzyme belonging to the glycosyl hydrolase 47 family. This Enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]

MAN1B1 基因产物(1)

mRNA	Protein	Name
NM_016219.5	NP_057303.2	endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase

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 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA IDA: 通过直接分析推断	10521544	GOA
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP IMP: 通过突变表型推断	18003979	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in ERAD pathway	IMP IMP: 通过突变表型推断	18003979	GOA
involved in mannoprotein catabolic process	IDA IDA: 通过直接分析推断	10521544	GOA
involved in mannoprotein catabolic process	IMP IMP: 通过突变表型推断	18003979	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasmic vesicle	IDA IDA: 通过直接分析推断	25411339	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	18003979	GOA
located in endoplasmic reticulum quality control compartment	IDA IDA: 通过直接分析推断	18003979	GOA
located in membrane	IDA IDA: 通过直接分析推断	18003979	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

MAN1B1 蛋白结构

Glyco_hydro_47

0
200
400
600
699 a.a.

蛋白主名

其他名称

endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase

ER alpha 1,2-mannosidase

重组 MAN1B1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P70957	MAN1B1 Protein, Human (HEK293, His)	Q9UKM7 (D106-A699)	≥95%

关联疾病

疾病名称

别名

Rafiq Syndrome

RAFQS	Cdg2u
Mental Retardation, Autosomal Recessive 15, Formerly	Mrt15, Formerly
Mrt15

Man1b1-Cdg

Carbohydrate Deficient Glycoprotein Syndrome Type Ii Due To Man1b1 Deficiency	Congenital Disorder Of Glycosylation Type 2 Due To Man1b1 Deficiency
Congenital Disorder Of Glycosylation Type Ii Due To Man1b1 Deficiency	Intellectual Disability-Truncal Obesity Syndrome

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Congenital Disorder Of Glycosylation, Type Iib

CDG2B	CDGIIB
Glucosidase I Deficiency	Congenital Disorder Of Glycosylation Type Iib
Cdg Iib	Mogs-Cdg
Cdg Syndrome Type Iib	Cdg-Iib
Carbohydrate Deficient Glycoprotein Syndrome Type Iib	Congenital Disorder Of Glycosylation Type 2b
Glucosidase 1 Deficiency	Type Iib Congenital Disorder Of Glycosylation
Glycosylation, Congenital Disorder Of, Type Iib

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

Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Catshl Syndrome

Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome

Alpha-1-Antitrypsin Deficiency

Alpha 1-Antitrypsin Deficiency	Alpha-1 Antitrypsin Deficiency
Aat Deficiency	Aatd
A1ATD	Emphysema Due To Aat Deficiency
A1at Deficiency	Emphysema-Cirrhosis, Due To Aat Deficiency
Hemorrhagic Diathesis Due To Antithrombin Pittsburgh	Alpha-1 Antiprotease Deficiency
Alpha 1 Antitrypsin Deficiency	Aat
Alpha-1 Protease Inhibitor Deficiency	Alpha-1 Related Emphysema
Genetic Emphysema	Hereditary Pulmonary Emphysema
Inherited Emphysema	Alpha-1-Proteinase Inhibitor Deficiency
Alpha1-Antitrypsin Deficiency	Alpha-1-Antitrypsin Deficiency, Autosomal Recessive
Emphysema, Hereditary Pulmonary	Aatd - [Alpha-1-Antitrypsin] Deficiency

Congenital Disorder Of Glycosylation, Type Iif

CDG2F	Congenital Disorder Of Glycosylation Type Iif
Cdg Iif	Cdgiif
Carbohydrate Deficient Glycoprotein Syndrome Type Iif	Cmp-Sialic Acid Transporter Deficiency
Slc35a1-Cdg	Cdg-Iif
Cdgiidf	Cdg Syndrome Type Iif
Congenital Disorder Of Glycosylation Type 2f	Congenital Disorder Of Glycosylation 2f
Glycosylation, Congenital Disorder Of, Type Iif

Fructose Intolerance, Hereditary

Hereditary Fructose Intolerance	Fructose Intolerance
Fructose-1-Phosphate Aldolase Deficiency	Fructose-1,6-Bisphosphate Aldolase B Deficiency
Aldolase B Deficiency	Fructosemia
Aldob Deficiency	Hereditary Fructose Intolerance Syndrome
HFI	Fructosaemia
Hereditary Fructose-1-Phosphate Aldolase Deficiency	Fructose Aldolase B Deficiency
Fructose-1,6-Biphosphate Aldolase Deficiency	Hereditary Fructosemia
Fructosemia, Hereditary	Hereditary Fructosaemia
Fructose-Biphosphate Aldolase B Deficiency	Fructose Intolerance Of Newborn
Aldb - [Aldolase B] Deficiency	Deficiency Of Fructose-Bisphosphate Aldolase

Bartter Syndrome, Type 1, Antenatal

Hyperprostaglandin E Syndrome 1	Bartter Disease Type 1
BARTS1	Bartter Syndrome, Type 1
Bartter Syndrome Type 1	Hypokalemic Alkalosis With Hypercalciuria Antenatal 1
Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal	Bartter Syndrome Type 1 Antenatal
Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal	Bartter Syndrome Antenatal Type 1
Antenatal Bartter Syndrome Type 1	Bartter Syndrome Type I
Bartter Syndrome 1, Antenatal	Abs1
Antenatal Bartter Syndrome 1	Bs1
Bartter Syndrome, Antenatal Type 1	Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis

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

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-RS08006	MAN1B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	MAN1B1	VGNC	VGNC:74484
Bos taurus	MAN1B1	VGNC	VGNC:81193
Mus musculus	MAN1B1	MGD	MGI:2684954
Rattus norvegicus	MAN1B1	RGD	RGD:1563595
Others	MAN1B1	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

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）

MAN1B1 - mannosidase alpha class 1B member 1 Gene

关于 MAN1B1

功能概要

MAN1B1 基因产物(1)

MAN1B1 蛋白结构

重组 MAN1B1 蛋白

关联疾病

直系同源

热门区域

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MAN1B1 - mannosidase alpha class 1B member 1 Gene

关于 MAN1B1

功能概要

MAN1B1 基因产物(1)

MAN1B1 蛋白结构

重组 MAN1B1 蛋白

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