GNS R355*

Stable Identifier
R-HSA-2245238
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
N-acetylglucosamine-6-sulfatase, GNS_HUMAN, p.Arg355Ter GNS mutant
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
GNS
Chain
signal peptide:1-36, chain:37-552
Reference Transcript
Other Identifiers
0004590594
00531+3.1.6.14
11716751_a_at
11716752_x_at
11716753_x_at
13695
16767052
203676_at
212334_at
212335_at
26011
2799
36262_at
36263_g_at
40432_at
40433_at
48508
7964701
A0A024RBC5
A_23_P139632
AAH12482
AC025262
AK223484
AK302443
ALQ33555
BAD97204
BAG63740
BC012482
CAA78164
CAB026011
CCDS8970
CH471054
EAW97138
EAW97140
ENSG00000135677
ENSP00000258145
ENSP00000444819
ENST00000258145
ENST00000542058
EntrezGene:2799
g4504060_3p_at
GE87722
GNS
GNS-201
GNS-207
GO:0002376
GO:0003674
GO:0003824
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005764
GO:0005773
GO:0006027
GO:0006790
GO:0006810
GO:0008150
GO:0008152
GO:0008449
GO:0008484
GO:0009056
GO:0016192
GO:0016787
GO:0030203
GO:0031410
GO:0035578
GO:0042340
GO:0043167
GO:0043202
GO:0043226
GO:0043312
GO:0044281
GO:0046872
GO:0070062
GO:1904813
H7C3P4
HGNC:4422
HPA013695
HPA048508
Hs.164036.0.S1_3p_at
Hs.164036.0.S2_3p_at
Hs.334534
ILMN_1744517
IPR000917
IPR012251
IPR015981
IPR017849
IPR017850
IPR024607
KU178097
MIM:252940
MIM:607664
NM_002076
NP_002067
PF00884
PH_hs_0016439
TC12001678.hg
uc001ssg.5
uc010ssr.3
UPI0000000CC8
UPI00001FC6C4
Z12173
Z12173_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 355 replaced with unknown
Coordinate
355
PsiMod HEY
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis 12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
Cross References
RefSeq
Brenda
GeneCards
PRO
Orphanet
HMDB Protein