GNS R355* [lysosomal lumen]

Stable Identifier
R-HSA-2245238
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
N-acetylglucosamine-6-sulfatase, GNS_HUMAN, p.Arg355Ter GNS mutant
Icon
GNS R355* [lysosomal lumen] icon
GNS R355* [lysosomal lumen] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P15586 GNS
Gene Names
GNS
Chain
signal peptide:1-36, chain:37-552
Reference Genes
BioGPS Gene:2799 GNS
COSMIC (genes):GNS GNS
CTD Gene:2799 GNS
dbSNP Gene:2799 GNS
ENSEMBL:ENSG00000135677 GNS
HGNC:4422 GNS
KEGG:hsa:2799 GNS
Monarch:2799 GNS
NCBI Gene:2799 GNS
OMIM:607664 GNS
UCSC:P15586 GNS
Reference Transcript
Other Identifiers
11716751_a_at
11716752_x_at
11716753_x_at
16767052
203676_PM_at
203676_at
212334_PM_at
212334_at
212335_PM_at
212335_at
2799
3460133
3460134
3460135
3460136
3460137
3460141
3460142
3460143
3460144
3460145
3460146
3460147
3460149
3460150
3460151
3460152
3460154
3460155
3460156
3460157
3460158
3460159
3460160
3460162
3460163
3460164
3460167
3460168
36262_at
36263_g_at
40432_at
40433_at
7964701
A_23_P139632
A_33_P3261167
GE79801
GE87722
GO:0003824
GO:0005515
GO:0005539
GO:0005576
GO:0005764
GO:0005773
GO:0006027
GO:0006790
GO:0008449
GO:0008484
GO:0016787
GO:0030203
GO:0035578
GO:0042340
GO:0043199
GO:0043202
GO:0043226
GO:0046872
GO:0070062
GO:1901135
GO:1904813
HMNXSV003003486
Hs.164036.0.S1_3p_at
Hs.164036.0.S2_3p_at
ILMN_1744517
PH_hs_0016439
TC12001678.hg
Z12173_at
g4504060_3p_at
Participates
as a member of
Other forms of this molecule
GNS [Golgi lumen]
GNS [lysosomal lumen]
GNS Q390* [lysosomal lumen]
GNS Q272* [lysosomal lumen]
GNS S94I [lysosomal lumen]
OxA-GNS [lysosomal lumen]
GNS [ficolin-1-rich granule lumen]
GNS [extracellular region]
GNS [azurophil granule lumen]
Modified Residues
Name
Nonsense mutation at L-arginine 355
Coordinate
355
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis DOID:12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
Cross References
ENSEMBL
OpenTargets
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
GNS
HMDB Protein
Interactors (4)
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