GUSB A354V [lysosomal lumen]

Stable Identifier
R-HSA-2318376
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Beta-glucuronidase, BGLR_HUMAN, p.Ala354Val GUSB
GUSB A354V [lysosomal lumen] icon
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
GUSB
Chain
signal peptide:1-22, chain:23-651
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
Other forms of this molecule
Modified Residues
Name
L-alanine 354 replaced with L-valine
Coordinate
354
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-valine.
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
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
GlyGen
PDB
IntEnz
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
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