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GUSB A354V [lysosomal lumen]
Stable Identifier
R-HSA-2318376
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
Beta-glucuronidase, BGLR_HUMAN, p.Ala354Val GUSB
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
Mucopolysaccharidoses (Homo sapiens)
MPS VII - Sly syndrome (Homo sapiens)
Defective GUSB does not hydrolyse (HA)2 (Homo sapiens)
GUSB mutants [lysosomal lumen] (Homo sapiens)
GUSB A354V [lysosomal lumen] (Homo sapiens)
Defective GUSB does not hydrolyse CS/HS precursor (Homo sapiens)
GUSB mutants [lysosomal lumen] (Homo sapiens)
GUSB A354V [lysosomal lumen] (Homo sapiens)
Defective GUSB does not hydrolyse GlcA-β1,3-GlcNAc (Homo sapiens)
GUSB mutants [lysosomal lumen] (Homo sapiens)
GUSB A354V [lysosomal lumen] (Homo sapiens)
External Reference Information
External Reference
UniProt:P08236 GUSB
Gene Names
GUSB
Chain
signal peptide:1-22, chain:23-651
Reference Genes
BioGPS Gene:2990 GUSB
COSMIC (genes):GUSB GUSB
CTD Gene:2990 GUSB
dbSNP Gene:2990 GUSB
ENSEMBL:ENSG00000169919 GUSB
HGNC:4696 GUSB
KEGG:hsa:2990 GUSB
Monarch:2990 GUSB
NCBI Gene:2990 GUSB
OMIM:611499 GUSB
UCSC:P08236 GUSB
Reference Transcript
RefSeq:NM_001284290.1 GUSB
RefSeq:NM_000181.3 GUSB
RefSeq:XM_005250297.3 GUSB
RefSeq:NM_001293104.1 GUSB
RefSeq:NM_001293105.1 GUSB
Other Identifiers
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:0003824
GO:0004553
GO:0004566
GO:0005102
GO:0005576
GO:0005615
GO:0005764
GO:0005773
GO:0005975
GO:0006027
GO:0006790
GO:0016020
GO:0016787
GO:0016798
GO:0019391
GO:0019904
GO:0030163
GO:0030200
GO:0030207
GO:0030214
GO:0030246
GO:0035578
GO:0043202
GO:0043226
GO:0043231
GO:0070062
GO:1901135
GO:1904813
HMNXSV003041271
ILMN_1669878
M15182_at
PH_hs_0023271
PH_hs_0032345
TC07001457.hg
g4504222_3p_at
Participates
as a member of
GUSB mutants [lysosomal lumen] (Homo sapiens)
Other forms of this molecule
GUSB [azurophil granule lumen]
GUSB [extracellular region]
GUSB [ficolin-1-rich granule lumen]
GUSB [lysosomal lumen]
GUSB S52F [lysosomal lumen]
GUSB R356* [lysosomal lumen]
GUSB R216W [lysosomal lumen]
GUSB R611W [lysosomal lumen]
Modified Residues
Name
L-alanine 354 replaced with L-valine
Coordinate
354
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
Disease
Name
Identifier
Synonyms
mucopolysaccharidosis VII
DOID:12803
mucopolysaccharidosis type VII, Mucopolysaccharidosis, MPS-VII (disorder), deficiency of beta-glucuronidase (disorder), mucopolysaccharidosis type VII
Cross References
OpenTargets
ENSG00000169919
ENSEMBL
ENSP00000302728
,
ENST00000304895
,
ENST00000421103
,
ENSP00000391390
ZINC - Substances
BGLR_HUMAN
ZINC - Biogenic
BGLR_HUMAN
ZINC target
P08236
PRO
P08236
GlyGen
P08236
PDB
3HN3
,
1BHG
IntEnz
3.2.1.31
HPA
ENSG00000169919-GUSB
Pharos - Targets
P08236
Orphanet
GUSB
ZINC - Predictions - Purchasable
BGLR_HUMAN
HMDB Protein
HMDBP00839
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P0DTC5 M
10
M [plasma membrane]
(R-COV-9755780)
N-glycan M [virion membrane]
(R-COV-9694385)
M [virion membrane]
(R-COV-9694320)
M [endocytic vesicle membrane]
(R-COV-9694563)
N-glycan M [endocytic vesicle membrane]
(R-COV-9694738)
M [endoplasmic reticulum-Golgi intermediate compartment membrane]
(R-COV-9694439)
N-glycan M [endoplasmic reticulum-Golgi intermediate compartment membrane]
(R-COV-9694446)
M [endoplasmic reticulum membrane]
(R-COV-9767620)
nascent M [endoplasmic reticulum lumen]
(R-COV-9694279)
N-glycan M [endoplasmic reticulum membrane]
(R-COV-9694684)
0.547
2
UniProt:P11802 CDK4
3
p-T172-CDK4 [nucleoplasm]
(R-HSA-113830)
CDK4 [nucleoplasm]
(R-HSA-113843)
CDK4 [cytosol]
(R-HSA-68330)
0.527
3
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