IDUA P553R [lysosomal lumen]

Stable Identifier
R-HSA-2207700
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Alpha-L-iduronidase, IDUA_HUMAN, p.P553R-IDUA
IDUA P553R [lysosomal lumen] icon
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
IDUA
Chain
signal peptide:1-27, chain:28-653
Reference Transcript
Other Identifiers
11744018_a_at
16963845
205057_PM_s_at
205057_s_at
205059_PM_s_at
205059_s_at
2714415
2714416
2714417
2714429
2714431
2714434
2714437
2714439
2714441
2714443
2714444
2714446
2714447
2714449
2714451
2714452
2714453
2714454
2714455
33155_at
3425
8093425
A_23_P167093
A_33_P3392087
GE60520
GO:0003824
GO:0003940
GO:0004553
GO:0005102
GO:0005576
GO:0005615
GO:0005764
GO:0005773
GO:0005975
GO:0005984
GO:0006027
GO:0006790
GO:0008152
GO:0016787
GO:0016798
GO:0030163
GO:0030200
GO:0030209
GO:0030211
GO:0043202
GO:0043226
GO:0070062
GO:1901135
HMNXSV003019884
Hs.89560.0.A1_3p_a_at
ILMN_1703041
M74715_s_at
M95740_at
PH_hs_0004997
TC04000015.hg
g4557660_3p_a_at
Participates
Other forms of this molecule
Modified Residues
Name
L-proline 533 replaced with L-arginine
Coordinate
533
PsiMod
A protein modification that effectively removes or replaces an L-proline.
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis I DOID:12802 Lipochondrodystrophy, Mucopolysaccharidosis, type 1, Mucopolysaccharidosis, MPS-I (disorder), Mucopolysaccharidosis type I [Ambiguous], iduronidase deficiency disease
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Pharos - Targets
Orphanet
HMDB Protein
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