======= MAN1B1 ======= == Gene Information == * **Official Symbol**: MAN1B1 * **Official Name**: mannosidase alpha class 1B member 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=11253|11253]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q9UKM7|Q9UKM7]] * **Interactions**: [[https://thebiogrid.org/search.php?search=MAN1B1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MAN1B1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/604346|Open OMIM]] == Function Summary == * **Entrez Summary**: 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]. * **UniProt Summary**: 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). {ECO:0000269|PubMed:12090241, ECO:0000269|PubMed:18003979}. |Glyco hydro 47| |trimming of terminal mannose on B branch| |trimming of second mannose on A branch| |trimming of first mannose on A branch| |trimming of terminal mannose on C branch| |ubiquitin-dependent glycoprotein ERAD pathway| |protein deglycosylation involved in glycoprotein catabolic process| |mannose trimming involved in glycoprotein ERAD pathway| |response to glycoprotein| |mannosyl-oligosaccharide 1,2-alpha-mannosidase activity| |N-glycan processing| |endoplasmic reticulum mannose trimming| |protein alpha-1,2-demannosylation| |protein demannosylation| |glycoprotein catabolic process| |endoplasmic reticulum quality control compartment| |protein deglycosylation| |oligosaccharide metabolic process| |extracellular vesicle| |ubiquitin-dependent ERAD pathway| |ERAD pathway| |carbohydrate derivative catabolic process| |macromolecule glycosylation| |protein glycosylation| |response to endoplasmic reticulum stress| |glycosylation| |glycoprotein biosynthetic process| |proteasome-mediated ubiquitin-dependent protein catabolic process| |proteasomal protein catabolic process| |glycoprotein metabolic process| |carbohydrate metabolic process| |ubiquitin-dependent protein catabolic process| |modification-dependent protein catabolic process| |modification-dependent macromolecule catabolic process| |proteolysis involved in cellular protein catabolic process| |cellular protein catabolic process| |carbohydrate derivative biosynthetic process| |protein catabolic process| |calcium ion binding| |cellular macromolecule catabolic process| |endoplasmic reticulum membrane| |Golgi apparatus| |response to organonitrogen compound| |endoplasmic reticulum| |carbohydrate derivative metabolic process| |macromolecule catabolic process| |organonitrogen compound catabolic process| |response to nitrogen compound| |proteolysis| |organonitrogen compound biosynthetic process| |response to oxygen-containing compound| |cellular response to stress| |cellular macromolecule biosynthetic process| |macromolecule biosynthetic process| |organic substance catabolic process| |cellular catabolic process| |membrane| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp505|ML-792 0.2μM R08 exp505]]|-1.82| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 6469 * **Expression level (log2 read counts)**: 6.21 {{:chemogenomics:nalm6 dist.png?nolink |}}