Center for Bioinformatics
Oxidoreductases | Transferases | Hydrolases | Lyases | Isomerases | Ligases

Basic Information

Enzyme Number

3.2.1.24

Official Name

alpha-mannosidase

Name from literature

alpha-mannosidase

Pathway from literature

Pathway from KEGG

Glycan Biosynthesis and Metabolism; Glycan structures - Degradation; map01032

Glycan Biosynthesis and Metabolism; N-Glycan degradation; map00511

Organisms

Human (9606)

Genome localization

4p16.1[23324 ], 19cen-q13.1[4125 ], 15q11-q13[4123 ],

Comments

Also hydrolyses alpha-D-lyxosides and heptopyranosides with the same configuration at C-2, C-3 and C-4 as mannose.

Rate-limiting Description

"The rate-limiting step seemed to be the processing of the 19.5 kDa precursor by alpha-mannosidase II." (2466460)

Regulatory Information

Regulatory type

Detail

phosphorylation;

Q9NTJ4:from_uniprot:480_Phosphoserine

phosphorylation;

Q9NTJ4:from_uniprot:482_Phosphothreonine

phosphorylation;

Q9NTJ4

Gene ontology

Gene ontology

GO:0008270 (F) zinc ion binding [Q9Y2E5, O00754, Q9NTJ4 ];
GO:0006013 (P) mannose metabolic process [Q9Y2E5, O00754, Q9NTJ4 ];
GO:0005576 (C) extracellular region [Q9Y2E5 ];
GO:0030246 (F) carbohydrate binding [Q9Y2E5, O00754 ];
GO:0006517 (P) protein deglycosylation [O00754 ];
GO:0005764 (C) lysosome [O00754 ];
GO:0005515 (F) protein binding [Q9NTJ4 ];
GO:0004559 (F) alpha-mannosidase activity [Q9Y2E5, O00754, Q9NTJ4 ];

Subcellular localization

Localization

extracellular [Q9Y2E5 ];

lysosome [O00754 ];

Disease relevance

Disease

Defects in MAN2B1 are the cause of lysosomal alpha-mannosidosis (AM) [MIM:248500]. AM is a lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities [O00754 ];

Links

SwissProt

O00754; Q9NTJ4; Q9Y2E5

Entrez Gene

23324; 4123; 4125

HPRD

01109; 14355; 02007



  Copyright 2009, Center for Bioinformatics 
  Last Modified: 2009-03-24  
  Design by Zhao Min