1. Gene
  2. MAN2B1 - mannosidase alpha class 2B member 1 Gene

MAN2B1 - mannosidase alpha class 2B member 1 Gene

中文名称:甘露糖苷酶 alpha 2B 类成员 1

种属: Homo sapiens

同用名: MANB; LAMAN

基因 ID: 4125 | 基因类型: protein coding

关于 MAN2B1

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,646,512-12,666,742 (from NCBI)

This gene has 17 transcripts (splice variants), 220 orthologues, 4 paralogues and is associated with 5 phenotypes. Ubiquitous expression in spleen (RPKM 48.9), appendix (RPKM 36.3) and 25 other tissues.

功能概要

该基因编码一种酶,该酶可水解 alpha-D-甘露糖苷中的末端非还原性 alpha-D-甘露糖残基。它的活性对于糖蛋白周转期间释放的 N-连接碳水化合物的分解代谢是必需的,它是糖基水解酶家族 38 的成员。全长蛋白质分两步加工。首先,一个 49 aa 的前导序列被切掉,剩余的蛋白质被加工成 70 kDa、42 kDa (D) 和 13/15 kDa (E) 的 3 个肽。接下来,将 70 kDa 肽进一步加工成三种肽 (A、B 和 C) 。 A、B 和 C 肽是二硫键连接的。该基因的缺陷与溶酶体α-甘露糖苷贮积症有关。已发现该基因编码不同亚型的可变剪接转录本变体。[RefSeq 提供,2010 年 3 月]

This gene encodes an Enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked Carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 Peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three Peptides (A, B and C). The A, B and C Peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

MAN2B1 基因产物(2)

mRNA Protein Name
NM_000528.4 NP_000519.2 lysosomal alpha-mannosidase isoform 1 precursor
NM_001173498.2 NP_001166969.1 lysosomal alpha-mannosidase isoform 2 precursor

MAN2B1 蛋白结构

Glyco_hydro_38

Glyco_hydro_38: Glycosyl hydrolases family 38 N-terminal domain (64 - 381)

Alpha-mann_mid

Alpha-mann_mid: Alpha mannosidase middle domain (386 - 465)

Glyco_hydro_38C

Glyco_hydro_38C: Glycosyl hydrolases family 38 C-terminal domain (510 - 1001)

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  • 1011 a.a.
蛋白主名 其他名称

lysosomal alpha-mannosidase

lysosomal acid alpha-mannosidase

关联疾病

疾病名称 别名
Mannosidosis, Alpha B, Lysosomal

Alpha-Mannosidosis

Lysosomal Alpha-D-Mannosidase Deficiency

Deficiency Of Alpha-Mannosidase

Alpha-Mannosidase B Deficiency

Mannosidosis

MANSA

Mannosidosis, Alpha-, Types I And Ii

Alpha-D-Mannosidosis

Alpha-Mannosidase Deficiency

Α-Mannosidosis

Alpha Mannosidase B Deficiency

Mannosidosis, Alpha B Lysosomal

Lysosomal Alpha B Mannosidosis

Alpha-Mannosidosis, Infantile Form

Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form

Alpha-Mannosidosis, Adult Form

Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form

Alpha-Mannosidosis Types I And Ii

Mannosidase Deficiency Diseases

Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency

Methylmalonyl-Coenzyme A Mutase Deficiency

Methylmalonic Aciduria, Mut Type

Methylmalonic Aciduria, Mut(0) Type

Methylmalonic Acidemia Due To Methylmalonyl-Coa Mutase Deficiency

Vitamin B12-Unresponsive Methylmalonic Aciduria

Vitamin B12-Unresponsive Methylmalonic Acidemia

Methylmalonic Aciduria, Mut Type

Mma Due To Mcm Deficiency

Methylmalonic Aciduria Mut Type

Mcm Deficiency

Methylmalonyl-Coa Mutase Deficiency

Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0

Complete Deficiency Of Methylmalonyl-Coa Mutase

Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0

Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-

Partial Deficiency Of Methylmalonyl-Coa Mutase

Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut-

MMAM

Methylmalonicaciduria Due To Methylmalonyl-Coa Mutase Deficiency

Methylmalonic Aciduria Type Mut

Methylmalonicaciduria Vitamin B12 Unresponsive

Aciduria, Methylmalonic, Due To Methylmalonyl-Coa Mutase Deficiency

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis

Lysosomal Beta-Mannosidase Deficiency

Beta-Mannosidase Deficiency

Beta-D-Mannosidosis

Mannosidosis, Beta

MANSB

Lysosomal Beta A Mannosidosis

Schindler Disease

Alpha-N-Acetylgalactosaminidase Deficiency

Naga Deficiency

Alpha-Galactosidase B Deficiency

Alpha-Galnac Deficiency, Schindler Type

Alpha-Naga Deficiency

Angiokeratoma Corporis Diffusum-Glycopeptiduria

Galb Deficiency

Kanzaki Disease

Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum

Neuroaxonal Dystrophy, Schindler Type

Neuronal Axonal Dystrophy, Schindler Type

Schindler Disease, Type I

Schindler Disease, Type Ii

Fucosidosis

Alpha-L-Fucosidase Deficiency

Fucosidase Deficiency Disease

A-Fucosidase Deficiency

Alpha Fucosidase Deficiency

Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues

Alpha-Fucosidase Deficiency

Fucosidase Deficiency

FUCA1D

Dysostosis

Dysostoses

Galactosialidosis

Goldberg Syndrome

Neuraminidase Deficiency With Beta-Galactosidase Deficiency

Ppca Deficiency

GSL

Lysosomal Protective Protein Deficiency

Cathepsin A Deficiency

Neuraminidase/Beta-Galactosidase Expression

Protective Protein/Cathepsin A Deficiency

Ngbe

Cathepsin A Deficiency Of

Lysosomal Protective Protein Deficiency Of

Deficiency Of Cathepsin A

Neuraminidase Beta-Galactosidase Deficiency

Protective Protein Cathepsin A Deficiency

Mucolipidosis Iii Alpha/Beta

Pseudo-Hurler Polydystrophy

Mucolipidosis Iii

Ml Iii Alpha/Beta

Mucolipidosis Iiia

Ml Iiia

Ml Iii

Ml 3 A

Ml3

Mucolipidosis Type 3a

Mucolipidosis Iii, Variant

Mucolipidosis Type Iii Alpha/Beta

Ml 3 Alpha/Beta

Mucolipidosis Type 3 Alpha/Beta

Mucolipidosis Type 3

Mucolipidosis Type Iii Complementation Group A

MLIIIA

Cariant Pseudo-Hurler Polydystrophy

Mucolipidosis, Type Iii Alpha/Beta

Mucolipidosis, Type Iii, Alpha/Beta

Hurler Syndrome

Mucopolysaccharidosis Ih

Mucopolysaccharidosis Type Ih

Mps1-H

MPS1H

Hurler Disease

Mpsih

Mucopolysaccharidosis Type 1h

Alpha-L-Iduronidase Deficiency

Dysostosis Multiplex

Dysostosis Multiplex Syndrome

Gargoylism

Hurler Disease Mps Type 1h

Hurler-Pfaundler Syndrome

L-Iduronidase Deficiency, Hurler Type

Mucopolysaccharidosis Type I Severe Form

Mucopolysaccharidosis 1h

Hurler'S Syndrome

Mps Ih

Mps-Ih

Pfaundler-Hurler Syndrome

Mucopolysaccharidosis I

Aspartylglucosaminuria

Aspartylglycosaminuria

Glycosylasparaginase Deficiency

Aspartylglucosaminidase Deficiency

Aga Deficiency

AGU

Aspartylglucosamidase Deficiency

Glycoasparaginase

Aspartylglucosamidase Deficiency

Hyperammonemia, Type Iii

Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis

Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders

MPSPS

Mucopolysaccharidoses

Mps

Mucopolysaccharidosis-Like Plus Disease

Disorders Of Glycosaminoglycan Metabolism

Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

Acid Sphingomyelinase Deficiency, Neurovisceral Type

Asmd, Neurovisceral Type

Infantile Neurovisceral Acid Sphingomyelinase Deficiency

Infantile Neurovisceral Asmd

Npd-A

Niemann-Pick Disease A

NPDA

Classical Niemann-Pick Disease

Niemann-Pick Disease Acute Neuronopathic Form

Niemann-Pick Disease Acute Neurovisceral Form

Niemann-Pick Disease Classical Infantile Form

Niemann-Pick Disease Intermediate Protracted Neurovisceral

Niemann-Pick Disease Neuronopathic Type

Niemann-Pick Disease Type I

Npa

Niemann-Pick Diseases

Mucopolysaccharidosis Iii

Sanfilippo Syndrome

Mucopolysaccharidosis Type Iii

Mucopolysaccharidosis Type 3

Mps Iii

Mpsiii

Sanfilippo Disease

Heparan Sulfate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Iii

N-Sulphoglucosamine Sulphohydrolase Deficiency

Naglu Deficiency

Sanfilippo'S Syndrome

Mucopoly-Saccharidosis Type 3

Mps3

Sanfilippos Syndrome

Mucopolysaccharidosis Type Iiia

Mps Iii B

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
Canis familiaris MAN2B1 VGNC VGNC:108249
Mus musculus MAN2B1 MGD MGI:107286
Rattus norvegicus MAN2B1 RGD RGD:3039
Bos taurus MAN2B1 VGNC VGNC:108504