Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures
Basic Information
Protein Name :  Alpha-L-iduronidase  

UniProtKB / Swiss-Prot ID :  IDUA_HUMAN

Gene Name (Synonyms) : 
IDUA  

Species :  Homo sapiens (Human). 

Subcellular Localization :  Lysosome. 

Protein Function :   

Protein Sequence MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQADQYVLSWDQ...
Predicted Secondary Structure CCCCCHHHHHHHHHHHHHCCCCCCCCCCCEEEEEECCCHHHHHHHHHHHCCCCCCCCCCCCCCCHHHHHH...
Protein Variant
LocationDescription
16Missing (in MPS1H). VAR_003349
33H -> Q (in dbSNP:rs10794537). VAR_003350
51G -> D (in MPS1H). VAR_003351
75A -> T (in MPS1H). VAR_003352
76Y -> C (in MPS1S). VAR_066215
79A -> V (in MPS1H/S; reduction of activityand protein levels).
82H -> P (in MPS1H/S). VAR_003353
82H -> Q (reduction of protein levels). VAR_020976
84G -> R (in MPS1H/S). VAR_066216
89R -> Q (in MPS1S; in Japanese 21% ofalleles).
89R -> W (in MPS1S). VAR_003355
103T -> P (in MPS1H; uncertain pathologicalrole).
105R -> Q (in dbSNP:rs3755955). VAR_003356
116G -> R. VAR_003357
133M -> I (in MPS1H). VAR_020977
178E -> K (in MPS1H/S). VAR_066218
182E -> K (in MPS1H). VAR_020978
188F -> L (in MPS1H/S; associated with R-423).
208G -> D (in MPS1H). VAR_020979
218L -> P (in MPS1H). VAR_003358
219G -> E (in MPS1S). VAR_066220
238L -> Q (in MPS1H/S). VAR_020980
260S -> F (in MPS1H/S). VAR_020981
265G -> R (in MPS1H/S). VAR_066221
276E -> K (in MPS1H/S and MPS1S). VAR_066222
279V -> A. VAR_003359
300A -> T (in IDUA pseudodeficiency). VAR_017435
306W -> L (in MPS1S). VAR_066223
315D -> Y (in MPS1). VAR_003360
327A -> P (in MPS1H and MPS1H/S). VAR_003361
346L -> R (in MPS1H/S; 0.4% of normalactivity).
348N -> K (in MPS1S). VAR_066224
349Missing (in MPS1H). VAR_003363
349D -> N (in MPS1H). VAR_003362
349D -> Y (in MPS1H). VAR_020982
350N -> I (in MPS1S). VAR_020983
361A -> T (in dbSNP:rs6831280). VAR_003364
363R -> C (in MPS1H/S; loss of activity). VAR_020984
366T -> P (in MPS1H). VAR_003365
380Q -> R (in MPS1H/S). VAR_003366
383R -> H (in MPS1S; 2-3% of normalactivity).
385P -> R (in MPS1H). VAR_066225
388T -> R (in MPS1H). VAR_003368
396L -> LALL (in MPS1H). VAR_003369
396L -> P (in MPS1). VAR_066226
409G -> R (in MPS1H; dbSNP:rs11934801). VAR_003370
423S -> R (in MPS1S and MPS1H/S; associatedwith L-188 in a patient with MPS1H/S;
436A -> P (in MPS1H/S). VAR_066227
445Missing (in MPS1S). VAR_003371
449H -> N. VAR_066228
454V -> I (in dbSNP:rs73066479). VAR_003372
489R -> P (in MPS1H; dbSNP:rs4690226). VAR_003373
490L -> P (in MPS1H/S and MPS1S). VAR_003374
492R -> P (in MPS1S). VAR_003375
496P -> L (in MPS1H/S). VAR_003376
496P -> R (in MPS1H/S). VAR_066229
504M -> T (in MPS1H/S). VAR_003377
533P -> R (in MPS1H and MPS1H/S; in 3% ofthe MPS1H patients).
535L -> F (in MPS1H/S). VAR_066230
591A -> T. VAR_066231
602F -> I (in MPS1H/S; reduction of activityand protein levels).
619R -> G (in MPS1H/S; 1.5% of normalactivity).
626W -> R (in MPS1H/S). VAR_003379
628R -> P (in MPS1H/S). VAR_020987
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Overview of Protein Modification Sites with Functional and Structural Information
Accessible Surface Area (ASA)
Pred. Secondary
Real Secondary
Disorder Prediction
Protein Domain
&
Experimental PTM Sites
Predicted PTM Sites
Protein Variant
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Experimental Post-Translational Modification Sites Download
Locations
Modification
Substrate Sites
&
Secondary Structure
Accessible Surface Area (%)
Resource
Reference
Structural Characterization
Orthologous
Protein Cluster
110N-linked (GlcNAc...).GLSYNFTHL
CCEEEHHHH
31.78UniProtKB
Link
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
MPP3_HUMANphysical interactionMINT-64783MINT16169070
MPP3_HUMANyeast 2-hybridHPRD:02016HPRD16169070
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Disease Reference
Kegg disease
OMIM disease
607014Mucopolysaccharidosis 1H (MPS1H)
607015Mucopolysaccharidosis 1H/S (MPS1H/S)
607016Mucopolysaccharidosis 1S (MPS1S)
Drug Reference
There are no disease associations of PTM sites.
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Related Literatures of Post-Translational Modification
N-linked Glycosylation
ReferencePubMed
"Glycoproteomics analysis of human liver tissue by combination ofmultiple enzyme digestion and hydrazide chemistry.";
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
J. Proteome Res. 8:651-661(2009).
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-110, AND MASSSPECTROMETRY.
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures