Aliases for MAN1B1 Gene
- Mannosidase Alpha Class 1B Member 1 2 3 4 5
- Endoplasmic Reticulum Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase 1 2 3
- Man9GlcNAc2-Specific Processing Alpha-Mannosidase 2 3
- Endoplasmic Reticulum Class I Alpha-Mannosidase 2 3
- ER Alpha 1,2-Mannosidase 2 3
- Endoplasmic Reticulum Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase 3
- Man9GlcNAc2-Specific-Processing Alpha-Mannosidase 4
- Endoplasmic Reticulum Alpha-Mannosidase 1 2
- Mannosidase, Alpha, Class 1B, Member 1 2
- ER Alpha-1,2-Mannosidase 4
External Ids for MAN1B1 Gene
Previous GeneCards Identifiers for MAN1B1 Gene
This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]
GeneCards Summary for MAN1B1 Gene
MAN1B1 (Mannosidase Alpha Class 1B Member 1) is a Protein Coding gene. Diseases associated with MAN1B1 include Mental Retardation, Autosomal Recessive 15 and Man1b1-Cdg. Among its related pathways are Calnexin/calreticulin cycle and Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include calcium ion binding and mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. An important paralog of this gene is MAN1A1.
UniProtKB/Swiss-Prot for MAN1B1 Gene
Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2).
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.