IDS (456-550) R468W [lysosomal lumen]

Stable Identifier
R-HSA-2210368
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
Iduronate 2-sulfatase 14kDa R468W, IDS_HUMAN, p.Arg468Trp IDS
Icon
IDS (456-550) R468W [lysosomal lumen] icon
IDS (456-550) R468W [lysosomal lumen] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P22304 IDS
Gene Names
IDS, SIDS
Chain
signal peptide:1-25, propeptide:26-33, chain:34-455, chain:456-550
Reference Genes
BioGPS Gene:3423 IDS
COSMIC (genes):IDS IDS
CTD Gene:3423 IDS
dbSNP Gene:3423 IDS
ENSEMBL:ENSG00000010404 IDS
ENSEMBL_homo_sapiens_GENE:ENSG00000010404.18 IDS
HGNC:5389 IDS
KEGG Gene (Homo sapiens):3423 IDS
Monarch:3423 IDS
NCBI Gene:3423 IDS
OMIM:300823 IDS
UCSC:P22304 IDS
Reference Transcript
Other Identifiers
11726881_a_at
11732131_x_at
11732132_a_at
11732133_a_at
11747201_a_at
11760820_at
17114829
202438_PM_x_at
202438_x_at
202439_PM_s_at
202439_s_at
206342_PM_x_at
206342_x_at
211782_PM_at
211782_at
212221_3p_x_at
212221_PM_x_at
212221_x_at
212223_PM_at
212223_at
217432_PM_s_at
217432_s_at
236823_PM_at
236823_at
3423
3994487
3994489
4025336
4025338
4025340
4025341
4025342
4025343
4025344
4025345
4025346
4025350
4025351
4025352
4025353
4025356
4025357
4025358
4025363
4025364
4025365
4025372
4025373
4025375
4025377
4025378
4025379
4025380
40592_at
40814_at
40815_g_at
54542_i_at
54545_r_at
63459_at
8170390
8175593
A_23_P217475
A_23_P400847
A_23_P84648
A_24_P285032
A_32_P38345
GE62324
GE681319
GO:0003824
GO:0004423
GO:0005509
GO:0005515
GO:0005737
GO:0005764
GO:0005773
GO:0006027
GO:0006790
GO:0008484
GO:0016787
GO:0030163
GO:0030200
GO:0030209
GO:0043202
GO:0043226
GO:0046872
GO:1901135
HMNXSV003033509
HMNXSV003045968
Hs.172458.0.S2_3p_s_at
Hs.172458.4.S1_3p_a_at
Hs.303154.1.A1_3p_at
Hs.303154.1.A2_3p_x_at
Hs.6795.0.A1_3p_at
ILMN_1758626
ILMN_1798448
ILMN_1815445
ILMN_1889451
L13329_at
L40586_at
PH_hs_0023621
TC0X002267.hg
TC0X002343.hg
g5360207_3p_s_at
g5360215_3p_a_at
p33602
p33603
p33604
Participates
as a member of
Other forms of this molecule
IDS (456-550) R468L [lysosomal lumen]
IDS (34-455) R443* [lysosomal lumen]
IDS (456-550) R468Q [lysosomal lumen]
IDS(34-455) [lysosomal lumen]
IDS(456-550) [lysosomal lumen]
Modified Residues
Name
L-arginine 468 replaced with L-tryptophan
Coordinate
468
PsiMod
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis II DOID:12799 Hunter's syndrome, mucopolysaccharidosis type II, Hunter's syndrome, Mucopolysaccharidosis, MPS-II (disorder), deficiency of iduronate-2-sulphatase
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Interactors (2)
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