GUSB R216W [lysosomal lumen]

Stable Identifier
R-HSA-2318584
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
Beta-glucuronidase, BGLR_HUMAN, p.Arg216Try GUSB
Locations in the PathwayBrowser
Expand all
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 Gene (Homo sapiens):2990 GUSB
Monarch:2990 GUSB
NCBI Gene:2990 GUSB
OMIM:611499 GUSB
UCSC:P08236 GUSB
Reference Transcript
Other Identifiers
11719271_s_at
17058176
202605_at
2868809
2946613
2990
3004396
3053693
3053694
3053695
3053696
3053697
3053698
3053699
3053700
3053706
3053707
3053709
3053711
3053713
3053715
3053717
3053722
3053723
3053724
3053725
3053729
33308_at
8139859
A_23_P334608
GE61184
GO:0002376
GO:0003674
GO:0004553
GO:0004566
GO:0005102
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005764
GO:0005773
GO:0005975
GO:0006027
GO:0006810
GO:0008150
GO:0008152
GO:0009056
GO:0016020
GO:0016192
GO:0016787
GO:0016798
GO:0019391
GO:0019904
GO:0030214
GO:0030246
GO:0031410
GO:0035578
GO:0043202
GO:0043226
GO:0043231
GO:0043312
GO:0044281
GO:0070062
GO:1904813
ILMN_1669878
M15182_at
PH_hs_0023271
PH_hs_0032345
TC07001457.hg
g4504222_3p_at
Participant Of
hasMember
Other forms of this molecule
GUSB R611W [lysosomal lumen]
GUSB A354V [lysosomal lumen]
GUSB [lysosomal lumen]
GUSB [ficolin-1-rich granule lumen]
GUSB [extracellular region]
GUSB [azurophil granule lumen]
GUSB S52F [lysosomal lumen]
GUSB R356* [lysosomal lumen]
Modified Residues
Name
L-arginine 216 replaced with L-tryptophan
Coordinate
216
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
Disease
Name Identifier Synonyms
mucopolysaccharidosis VII 12803 mucopolysaccharidosis type VII, Mucopolysaccharidosis, MPS-VII (disorder), deficiency of beta-glucuronidase (disorder), mucopolysaccharidosis type VII
Cross References
RefSeq
OpenTargets
ZINC - Substances
ZINC target
ZINC - Biogenic
PRO
PDB
GeneCards
HPA
Ensembl
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
Cite Us!