Reactome | UniProt:P08236 GUSB

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UniProt:P08236 GUSB Show undefined attributes

chain	signal peptide:1-22 chain:23-651
checksum	6BA7B1D935C9ABBD
comment	FUNCTION Plays an important role in the degradation of dermatan and keratan sulfates.CATALYTIC ACTIVITY a beta-D-glucuronoside + H2O = D-glucuronate + an alcoholACTIVITY REGULATION Inhibited by L-aspartic acid.SUBUNIT Homotetramer.SUBCELLULAR LOCATION N-linked glycosylated with 3 to 4 oligosaccharide chains.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the glycosyl hydrolase 2 family.
crossReference	[DatabaseIdentifier:12382602] RefSeq:XP_005250354.1 [DatabaseIdentifier:12817219] ZINC target:P08236 [DatabaseIdentifier:12813791] ZINC - Substances:BGLR_HUMAN [DatabaseIdentifier:12810131] ZINC - Predictions - Purchasable:BGLR_HUMAN [DatabaseIdentifier:12804486] ZINC - Biogenic:BGLR_HUMAN [DatabaseIdentifier:11478934] ENSEMBL:ENSG00000169919 [DatabaseIdentifier:11579084] ENSEMBL:ENSP00000391390 [DatabaseIdentifier:11579083] ENSEMBL:ENSP00000302728 [DatabaseIdentifier:11701783] ENSEMBL:ENST00000304895 [DatabaseIdentifier:11701782] ENSEMBL:ENST00000421103 [DatabaseIdentifier:11791919] GeneCards:GUSB [DatabaseIdentifier:11807930] GlyGen:P08236 [DatabaseIdentifier:11833761] HMDB Protein:HMDBP00839 [DatabaseIdentifier:11844916] HPA:ENSG00000169919-GUSB [DatabaseIdentifier:11850994] IntEnz:3.2.1.31 [DatabaseIdentifier:12129551] OpenTargets:ENSG00000169919 [DatabaseIdentifier:12137679] Orphanet:GUSB [DatabaseIdentifier:12210635] PDB:1BHG [DatabaseIdentifier:12210634] PDB:3HN3 [DatabaseIdentifier:12271972] PRO:P08236 [DatabaseIdentifier:12289764] Pharos - Targets:P08236 [DatabaseIdentifier:12382599] RefSeq:NP_001280034.1 [DatabaseIdentifier:12382603] RefSeq:NP_001271219.1 [DatabaseIdentifier:12382601] RefSeq:NP_001280033.1 [DatabaseIdentifier:12382600] RefSeq:NP_000172.2
databaseName	UniProt
dbId	50814
description	recommendedName: Beta-glucuronidase ecNumber evidence="23"3.2.1.31 alternativeName: Beta-G1
displayName	UniProt:P08236 GUSB
geneName	GUSB
identifier	P08236
isSequenceChanged	false
keyword	3D-structure Alternative splicing Direct protein sequencing Disease variant Glycoprotein Glycosidase Hydrolase Lysosome Mucopolysaccharidosis Proteomics identification Reference proteome Signal
modified	[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
moleculeType	Protein
name	GUSB
otherIdentifier	11719271_s_at 17058176 202605_PM_at 202605_at 2868809 2990 3004396 3053693 3053694 3053695 3053696 3053697 3053698 3053699 3053700 3053701 3053702 3053703 3053704 3053705 3053706 3053707 3053709 3053711 3053712 3053713 3053714 3053715 3053716 3053717 3053718 3053719 3053720 3053721 3053722 3053723 3053724 3053725 3053728 3053729 33308_at 8139859 A_23_P334608 GE61184 GO:0001501 GO:0001503 GO:0001523 GO:0001701 GO:0001958 GO:0003012 GO:0003415 GO:0003417 GO:0003422 GO:0004553 GO:0004566 GO:0005102 GO:0005576 GO:0005615 GO:0005764 GO:0005783 GO:0005975 GO:0006027 GO:0006629 GO:0006790 GO:0006914 GO:0006954 GO:0007040 GO:0008283 GO:0009306 GO:0010467 GO:0016020 GO:0016787 GO:0016798 GO:0019904 GO:0030163 GO:0030200 GO:0030207 GO:0030214 GO:0030246 GO:0034504 GO:0035264 GO:0035578 GO:0035904 GO:0036092 GO:0038202 GO:0043202 GO:0043434 GO:0045453 GO:0048856 GO:0048872 GO:0060348 GO:0060349 GO:0061975 GO:0070062 GO:0097009 GO:0098868 GO:1901135 GO:1904813 GO:1904888 HMNXSV003041271 ILMN_1669878 M15182_at PH_hs_0023271 PH_hs_0032345 TC07001457.hg g4504222_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-6799122] GUSB [azurophil granule lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-6806207] GUSB [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-6800967] GUSB [ficolin-1-rich granule lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1678846] GUSB [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2318391] GUSB S52F [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2318372] GUSB R356* [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2318376] GUSB A354V [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2318584] GUSB R216W [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2318382] GUSB R611W [lysosomal lumen] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000169919] ENSEMBL:ENSG00000169919 GUSB [ReferenceDNASequence:12741840] UCSC:P08236 GUSB [ReferenceDNASequence:11344565] BioGPS Gene:2990 GUSB [ReferenceDNASequence:11400038] COSMIC - genes:GUSB GUSB [ReferenceDNASequence:11419841] CTD Gene:2990 GUSB [ReferenceDNASequence:11437120] dbSNP Gene:2990 GUSB [ReferenceDNASequence:11823594] HGNC:4696 GUSB [ReferenceDNASequence:11884966] KEGG:hsa:2990 GUSB [ReferenceDNASequence:11974354] Monarch:2990 GUSB [ReferenceDNASequence:12058447] NCBI Gene:2990 GUSB [ReferenceDNASequence:12114190] OMIM:611499 GUSB
referenceTranscript	[ReferenceRNASequence:12564377] RefSeq:XM_005250297.5 GUSB [ReferenceRNASequence:12564375] RefSeq:NM_001284290.2 GUSB [ReferenceRNASequence:12564378] RefSeq:NM_001293104.1 GUSB [ReferenceRNASequence:12564376] RefSeq:NM_001293105.1 GUSB [ReferenceRNASequence:12564374] RefSeq:NM_000181.4 GUSB
schemaClass	ReferenceGeneProduct
secondaryIdentifier	BGLR_HUMAN B4E1F6 E9PCV0 Q549U0 Q96CL9
sequenceLength	651
species	[Species:48887] Homo sapiens
stId	uniprot:P08236
url	http://purl.uniprot.org/uniprot/P08236

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-6799122] GUSB [azurophil granule lumen] [EntityWithAccessionedSequence:R-HSA-6806207] GUSB [extracellular region] [EntityWithAccessionedSequence:R-HSA-6800967] GUSB [ficolin-1-rich granule lumen] [EntityWithAccessionedSequence:R-HSA-1678846] GUSB [lysosomal lumen] [EntityWithAccessionedSequence:R-HSA-2318391] GUSB S52F [lysosomal lumen] [EntityWithAccessionedSequence:R-HSA-2318372] GUSB R356* [lysosomal lumen] [EntityWithAccessionedSequence:R-HSA-2318376] GUSB A354V [lysosomal lumen] [EntityWithAccessionedSequence:R-HSA-2318584] GUSB R216W [lysosomal lumen] [EntityWithAccessionedSequence:R-HSA-2318382] GUSB R611W [lysosomal lumen]
(referenceSequence)	[ReplacedResidue:2318406] L-serine 52 replaced with L-phenylalanine [NonsenseMutation:2318390] Nonsense mutation at L-arginine 356 [ReplacedResidue:2318396] L-alanine 354 replaced with L-valine [ReplacedResidue:2318597] L-arginine 216 replaced with L-tryptophan [ReplacedResidue:2318370] L-arginine 611 replaced with L-tryptophan
(interactor)	[UndirectedInteraction:11159139] UniProt:P11802 <-> UniProt:P08236 (IntAct) [UndirectedInteraction:11199909] UniProt:P15056 <-> UniProt:P08236 (IntAct) [UndirectedInteraction:11222985] UniProt:P0DTC5 <-> UniProt:P08236 (IntAct)

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