InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MAN2B1

Summary

InnateDB Protein

IDBP-372872.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MAN2B1

Protein Name

mannosidase, alpha, class 2B, member 1

Synonyms

LAMAN; MANB;

Species

Homo sapiens

Ensembl Protein

ENSP00000395473

InnateDB Gene

IDBG-30534 (MAN2B1)

Protein Structure

UniProt Annotation

Function

Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.

Subcellular Localization

Lysosome.

Disease Associations

Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]: 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. {ECO:0000269PubMed:12718372, ECO:0000269PubMed:15712269, ECO:0000269PubMed:22161967, ECO:0000269PubMed:9158146, ECO:0000269PubMed:9758606, ECO:0000269PubMed:9915946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004559	alpha-mannosidase activity
GO:0008270	zinc ion binding
GO:0015923	mannosidase activity
GO:0030246	carbohydrate binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006013	mannose metabolic process
GO:0006464	cellular protein modification process
GO:0006517	protein deglycosylation

Cellular Component

GO:0005764	lysosome
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000602 Glycoside hydrolase family 38, N-terminal domain
IPR011013 Galactose mutarotase-like domain
IPR011330 Glycoside hydrolase/deacetylase, beta/alpha-barrel
IPR011682 Glycosyl hydrolase family 38, C-terminal
IPR015341 Glycoside hydrolase, family 38, central domain
IPR028995 Glycoside hydrolase, families 57/38, central domain

PFAM

PF01074
PF07748
PF09261

PRINTS

PIRSF

SMART

SM00872

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O00754