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Details on Person UniProt:Q9UKM7 MAN1B1
| Class:Id | ReferenceGeneProduct:58867 |
|---|---|
| _chainChangeLog | chain:1-699 added on Sat February 7 2015 |
| _displayName | UniProt:Q9UKM7 MAN1B1 |
| _timestamp | 2025-02-21 19:39:44 |
| chain | chain:1-699 |
| checksum | B8BF3BE333D90261 |
| comment | FUNCTION 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).CATALYTIC ACTIVITY N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 9A1,2,3B1,2,3) + 4 H2O = N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2) + 4 beta-D-mannoseCATALYTIC ACTIVITY N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 8A1,2,3B1,3) + 3 H2O = N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2) + 3 beta-D-mannoseCOFACTOR Inhibited by both 1-deoxymannojirimycin (dMNJ) and kifunensine.BIOPHYSICOCHEMICAL PROPERTIES Optimum pH is between 6.5 and 6.9.PATHWAY Protein modification; protein glycosylation.SUBCELLULAR LOCATION Widely expressed.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the glycosyl hydrolase 47 family.CAUTION It is uncertain whether Met-1 or Met-37 is the initiator. |
| description | recommendedName: Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase ecNumber evidence="6 9 12"3.2.1.113 alternativeName: ER alpha-1,2-mannosidase alternativeName: ER mannosidase 1 shortName: ERMan1 alternativeName: Man9GlcNAc2-specific-processing alpha-mannosidase alternativeName: Mannosidase alpha class 1B member 1 |
| geneName | MAN1B1 UNQ747/PRO1477 |
| identifier | Q9UKM7 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Calcium Disease variant Disulfide bond Endoplasmic reticulum Glycosidase Hydrolase Intellectual disability Membrane Metal-binding Proteomics identification Reference proteome Signal-anchor Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | MAN1B1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8988489] ENSEMBL:ENSG00000177239 MAN1B1 [Homo sapiens] |
| secondaryIdentifier | MA1B1_HUMAN Q5VSG3 Q9BRS9 Q9Y5K7 |
| sequenceLength | 699 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:548894] MAN1B1 [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:901013] MAN1B1 [endoplasmic reticulum quality control compartment] [Homo sapiens] [EntityWithAccessionedSequence:4960922] MAN1B1 E397K [endoplasmic reticulum quality control compartment] [Homo sapiens] [EntityWithAccessionedSequence:4960924] MAN1B1 R334C [endoplasmic reticulum quality control compartment] [Homo sapiens] [EntityWithAccessionedSequence:4960927] MAN1B1 W473* [endoplasmic reticulum quality control compartment] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:4960923] L-glutamic acid 397 replaced with L-lysine [ReplacedResidue:4960925] L-arginine 334 replaced with L-cysteine [NonsenseMutation:4960928] Nonsense mutation at L-tryptophan 473 |
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No pathways have been reviewed or authored by UniProt:Q9UKM7 MAN1B1 (58867)
