Aliases for MAN1B1 Gene
- Mannosidase, Alpha, Class 1B, Member 1 2 3
- Endoplasmic Reticulum Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase 1 2 3
- Man9GlcNAc2-Specific Processing Alpha-Mannosidase 2 3
- ER Alpha 1,2-Mannosidase 2 3
- ERMAN1 3 4
- Man9GlcNAc2-Specific-Processing Alpha-Mannosidase 4
- Endoplasmic Reticulum Alpha-Mannosidase 1 2
- Mannosidase Alpha Class 1B Member 1 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 man1b1-cdg and mental retardation, autosomal recessive 15. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. 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 MAN1C1.
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.