GUSB R216W

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):hsa:2990 GUSB
Monarch:2990 GUSB
NCBI Gene:2990 GUSB
OMIM:611499 GUSB
UCSC:P08236 GUSB
Reference Transcript
Other Identifiers
00052+3.2.1.23
00511+3.2.1.23
00531+3.2.1.23
00600+3.2.1.23
00604+3.2.1.23
11719271_s_at
17058176
1BHG
202605_at
2990
33308_at
36322
36323
3HN3
8139859
A_23_P334608
AAA52561
AAA52621
AAA52622
AAD14101
AAH14142
AAQ96851
AC073261
AK223406
AK303819
BAD97126
BAG64768
BC014142
CCDS5530
CCDS64665
CH236961
CH471140
EAL23740
EAX07951
ENSG00000169919
ENSP00000302728
ENSP00000391390
ENST00000304895
ENST00000421103
EntrezGene:2990
g4504222_3p_at
GE61184
GO:0004553
GO:0004566
GO:0005102
GO:0005576
GO:0005615
GO:0005764
GO:0005975
GO:0006027
GO:0008152
GO:0016020
GO:0016787
GO:0016798
GO:0019904
GO:0030214
GO:0035578
GO:0043202
GO:0043231
GO:0043312
GO:0070062
GO:1904813
GUSB
GUSB-201
GUSB-202
HGNC:4696
HPA036322
HPA036323
Hs.255230
ILMN_1669878
IPR006101
IPR006102
IPR006103
IPR006104
IPR008979
IPR017853
IPR023230
IPR023232
M10618
M15182
M15182_at
M65002
MIM:253220
MIM:611499
NM_000181
NM_001284290
NM_001293104
NM_001293105
NP_000172
NP_001271219
NP_001280033
NP_001280034
NR_120531
PF00703
PF02836
PF02837
PH_hs_0023271
PH_hs_0032345
PR00132
PWY-6807
S72462
TC07001457.hg
uc003tun.4
uc011kdt.3
UPI000013E9E0
UPI000198CD5D
XM_005250297
XM_011516113
XM_011516114
XM_017012091
XM_017012092
XM_017012093
XP_005250354
XP_011514415
XP_011514416
XP_016867580
XP_016867581
XP_016867582
XR_001744658
XR_001744659
XR_001744660
XR_001744661
XR_927461
Participant Of
hasMember
Other forms of this molecule
GUSB R611W [lysosomal lumen]
GUSB A354V [lysosomal lumen]
GUSB R356* [lysosomal lumen]
GUSB S52F [lysosomal lumen]
GUSB [ficolin-1-rich granule lumen]
GUSB [extracellular region]
GUSB [azurophil granule lumen]
GUSB [lysosomal lumen]
Modified Residues
Name
L-arginine 216 replaced with L-tryptophan
Coordinate
216
PsiMod HEY
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
Brenda
GeneCards
ZINC - Substances
DOCK Blaster
ZINC target
PRO
ZINC - Predictions - Purchasable
Orphanet
PDB
HMDB Protein