1. Gene
  2. MANEA - mannosidase endo-alpha Gene

MANEA - mannosidase endo-alpha Gene

中文名称:内α甘露糖苷酶

种属: Homo sapiens

同用名: ENDO; hEndo

基因 ID: 79694 | 基因类型: protein coding

关于 MANEA

Cytogenetic location: 6q16.1 Genomic coordinates (GRCh38): 6:95,577,535-95,609,452 (from NCBI)

This gene has 11 transcripts (splice variants), 200 orthologues and 1 paralogue. Ubiquitous expression in urinary bladder (RPKM 7.3), thyroid (RPKM 6.8) and 25 other tissues.

功能概要

通过寡糖基转移酶复合物将预组装的寡糖 glucose-3-mannose-9-N-acetylglucosamine-2 从焦磷酸多酚转移到靶蛋白上的受体位点,在内质网 (ER) 中启动蛋白质的 N-糖基化。这种核心寡糖依次被高尔基体中的几种 ER 糖苷酶和内甘露糖苷酶 (EC 3.2.1.130) (例如 MANEA) 加工。 MANEA 通过切割将它们连接到高甘露糖聚糖的 α-1,2-甘露糖苷键来催化单糖、二糖和三糖基甘露糖寡糖的释放 (Hamilton 等人,2005 [PubMed 15677381]) 。[OMIM 提供, 2008 年 9 月]

N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]

MANEA 基因产物(1)

mRNA Protein Name
NM_024641.4 NP_078917.2 glycoprotein endo-alpha-1,2-mannosidase
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables glycoprotein endo-alpha-1,2-mannosidase activity IDA
IDA: 通过直接分析推断
15760709 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in Golgi membrane IDA
IDA: 通过直接分析推断
15760709 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
蛋白主名 其他名称

glycoprotein endo-alpha-1,2-mannosidase

alpha 1,2-endomannosidase

关联疾病

疾病名称 别名
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

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis

Lysosomal Beta-Mannosidase Deficiency

Beta-Mannosidase Deficiency

Beta-D-Mannosidosis

Mannosidosis, Beta

MANSB

Lysosomal Beta A Mannosidosis

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MANEA RGD RGD:620327
Felis catus MANEA VGNC VGNC:102455
Mus musculus MANEA MGD MGI:2444484
Bos taurus MANEA VGNC VGNC:31169
Canis familiaris MANEA VGNC VGNC:42950
Macaca mulatta MANEA VGNC VGNC:74326