1. Gene
  2. MAN1A1 - mannosidase alpha class 1A member 1 Gene

MAN1A1 - mannosidase alpha class 1A member 1 Gene

中文名称:甘露糖苷酶 alpha 1A 类成员 1

种属: Homo sapiens

同用名: MAN9; HUMM3; HUMM9

基因 ID: 4121 | 基因类型: protein coding

关于 MAN1A1

Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:119,177,205-119,350,605 (from NCBI)

This gene has 1 transcript (splice variant), 222 orthologues and 6 paralogues. Ubiquitous expression in fat (RPKM 62.7), liver (RPKM 46.9) and 25 other tissues.

功能概要

该基因编码 I 类哺乳动物高尔基体 1,2-甘露糖苷酶,这是一种 II 型跨膜蛋白。这种蛋白质催化来自肽结合的 Man (9) -GlcNAc (2) 寡糖的三个末端甘露糖残基的水解,属于糖基水解酶家族 47。[RefSeq 提供,2012 年 7 月]

This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]

MAN1A1 基因产物(1)

mRNA Protein Name
NM_005907.4 NP_005898.2 mannosyl-oligosaccharide 1,2-alpha-mannosidase IA

MAN1A1 蛋白结构

Glyco_hydro_47

Glyco_hydro_47: Glycosyl hydrolase family 47 (202 - 640)

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  • 653 a.a.
蛋白主名 其他名称

mannosyl-oligosaccharide 1,2-alpha-mannosidase IA

Man9-mannosidase

关联疾病

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus MAN1A1 MGD MGI:104677
Bos taurus MAN1A1 VGNC VGNC:31161
Felis catus MAN1A1 VGNC VGNC:68144
Canis familiaris MAN1A1 VGNC VGNC:42942
Rattus norvegicus MAN1A1 RGD RGD:1310891
Macaca mulatta MAN1A1 VGNC VGNC:74483