Reactome | UniProt:Q9UKM7 MAN1B1

Schema > ReferenceGeneProduct > Entries

UniProt:Q9UKM7 MAN1B1 Show undefined attributes

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.
crossReference	[DatabaseIdentifier:12814269] ZINC target:Q9UKM7 [DatabaseIdentifier:12395717] RefSeq:NP_057303.2 [DatabaseIdentifier:12279443] Pharos - Targets:Q9UKM7 [DatabaseIdentifier:12235920] PRO:Q9UKM7 [DatabaseIdentifier:12139937] PDB:1FO2 [DatabaseIdentifier:12139932] PDB:1X9D [DatabaseIdentifier:12139936] PDB:5KIJ [DatabaseIdentifier:12139934] PDB:5KK7 [DatabaseIdentifier:12139935] PDB:1FO3 [DatabaseIdentifier:12139933] PDB:1FMI [DatabaseIdentifier:12134841] Orphanet:MAN1B1 [DatabaseIdentifier:12119101] OpenTargets:ENSG00000177239 [DatabaseIdentifier:11834655] HPA:ENSG00000177239-MAN1B1 [DatabaseIdentifier:11828984] HMDB Protein:HMDBP00869 [DatabaseIdentifier:11797274] GlyGen:Q9UKM7 [DatabaseIdentifier:11781527] GeneCards:MAN1B1 [DatabaseIdentifier:11710527] ENSEMBL:ENST00000371589 [DatabaseIdentifier:11587828] ENSEMBL:ENSP00000360645 [DatabaseIdentifier:11484942] ENSEMBL:ENSG00000177239
databaseName	UniProt
dbId	58867
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
displayName	UniProt:Q9UKM7 MAN1B1
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:9939033] Weiser, Joel, 2025-02-21
moleculeType	Protein
name	MAN1B1
otherIdentifier	11253 11721458_s_at 11752272_a_at 11754647_x_at 11760201_at 17091571 218636_PM_s_at 218636_s_at 3195175 3195176 3195177 3195178 3195179 3195180 3195181 3195182 3195183 3195184 3195185 3195188 3195189 3195190 3195191 3195193 3195194 3195195 3195198 3195199 3195200 3195201 3195202 3195203 3195204 3195205 3195206 3195207 3195208 3195209 3195210 3195211 3195212 3195213 3195214 3195215 3195216 3195217 3195218 3195219 3195220 3195221 3195222 3195223 3195224 3195225 3195226 3195227 3195228 3195229 3195230 3195232 3195234 64339_s_at 65884_PM_at 65884_at 8159566 A_14_P116425 A_14_P133434 A_23_P94857 A_33_P3299796 GE58443 GO:0004559 GO:0004571 GO:0005509 GO:0005783 GO:0005789 GO:0005794 GO:0005975 GO:0006058 GO:0006486 GO:0009100 GO:0009311 GO:0016020 GO:0016787 GO:0016798 GO:0019082 GO:0030163 GO:0031410 GO:0036503 GO:0036508 GO:0043226 GO:0044322 GO:0046872 GO:1901135 GO:1903561 GO:1904380 HMNXSV003001498 HMNXSV003001922 HMNXSV003013689 HMNXSV003058381 ILMN_1771957 PH_hs_0014418 TC09000838.hg g7706436_3p_s_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-4960924] MAN1B1 R334C [endoplasmic reticulum quality control compartment] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-4960927] MAN1B1 W473* [endoplasmic reticulum quality control compartment] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-4960922] MAN1B1 E397K [endoplasmic reticulum quality control compartment] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-901013] MAN1B1 [endoplasmic reticulum quality control compartment] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12744844] UCSC:Q9UKM7 MAN1B1 [ReferenceDNASequence:12105033] OMIM:604346 MAN1B1 [ReferenceDNASequence:12064123] NCBI Gene:11253 MAN1B1 [ReferenceDNASequence:11980030] Monarch:11253 MAN1B1 [ReferenceDNASequence:11890062] KEGG:hsa:11253 MAN1B1 [ReferenceDNASequence:11813127] HGNC:6823 MAN1B1 [ReferenceDNASequence:11437644] dbSNP Gene:11253 MAN1B1 [ReferenceDNASequence:11404631] CTD Gene:11253 MAN1B1 [ReferenceDNASequence:11400485] COSMIC - genes:MAN1B1 MAN1B1 [ReferenceDNASequence:11350241] BioGPS Gene:11253 MAN1B1 [ReferenceDNASequence:ensembl:ENSG00000177239] ENSEMBL:ENSG00000177239 MAN1B1
referenceTranscript	[ReferenceRNASequence:12577484] RefSeq:NM_016219.5 MAN1B1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	MA1B1_HUMAN Q5VSG3 Q9BRS9 Q9Y5K7
sequenceLength	699
species	[Species:48887] Homo sapiens
stId	uniprot:Q9UKM7
url	http://purl.uniprot.org/uniprot/Q9UKM7

Referrals

(referenceEntity)

(referenceSequence)