IDUA
entrez
3425
canonical
uniprot
P35475
canonical
ensembl
ENSG00000127415
resolver
ensp
ENSP00000425081
resolver
genesymbol
IDUA
resolver
hgnc
HGNC:5391
resolver
uniprot
B3KWK6
resolver
uniprot_entry
IDUA_HUMAN
resolver
uniprot_sec
B3KWK6
resolver
amino_acid_sequence
MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQADQYVLSWDQQLNLAYVGAVPHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLARRYIGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSFHTPPRSPLSWGLLRHCHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEADPLVGWSLPQPWRADVTYAAMVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPFAQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQLWAEVSQAGTVLDSNHTVGVLASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGLCSPDGEWRRLGRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLTLRPALRLPSLLLVHVCARPEKPPGQVTRLRALPLTQGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPSTFNLFVFSPDTGAVSGSYRVRALDYWARPGPFSDPVPYLEVPVPRGPPSPGNP
uniprot
proteins
disease_involvement
DISEASE: Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]: A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. {ECO:0000269|PubMed:10466419, ECO:0000269|PubMed:10735634, ECO:0000269|PubMed:12559846, ECO:0000269|PubMed:1301941, ECO:0000269|PubMed:15300847, ECO:0000269|PubMed:19396826, ECO:0000269|PubMed:21394825, ECO:0000269|PubMed:24036510, ECO:0000269|PubMed:31194252, ECO:0000269|PubMed:7550232, ECO:0000269|PubMed:7550242, ECO:0000269|PubMed:7951228, ECO:0000269|PubMed:8019563, ECO:0000269|PubMed:8328452, ECO:0000269|PubMed:8401515, ECO:0000269|Ref.21}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]: A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. {ECO:0000269|PubMed:10466419, ECO:0000269|PubMed:10735634, ECO:0000269|PubMed:12559846, ECO:0000269|PubMed:15300847, ECO:0000269|PubMed:21394825, ECO:0000269|PubMed:7550232, ECO:0000269|PubMed:7550242, ECO:0000269|PubMed:8401515}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]: A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. {ECO:0000269|PubMed:12559846, ECO:0000269|PubMed:15300847, ECO:0000269|PubMed:19396826, ECO:0000269|PubMed:21394825, ECO:0000269|PubMed:25256405, ECO:0000269|PubMed:7550232, ECO:0000269|PubMed:7550242, ECO:0000269|PubMed:8213840}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.76
uniprot
proteins
function
FUNCTION: Lysosomal hydrolase responsible for the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. {ECO:0000269|PubMed:7998955}.
uniprot
proteins
mass_dalton
72670
uniprot
proteins
post_translational_modification
PTM: N-glycosylation at Asn-372 contributes to substrate binding and is required for full enzymatic activity. {ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:23959878, ECO:0000269|PubMed:24036510}.
uniprot
proteins
protein_family
Glycosyl hydrolase 39 family
uniprot
proteins
pubmed
10466419
uniprot
proteins
pubmed
10735634
uniprot
proteins
pubmed
12559846
uniprot
proteins
pubmed
1301941
uniprot
proteins
pubmed
1362562
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1505961
uniprot
proteins
pubmed
15300847
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19396826
uniprot
proteins
pubmed
1946389
uniprot
proteins
pubmed
21394825
uniprot
proteins
pubmed
23959878
uniprot
proteins
pubmed
24036510
uniprot
proteins
pubmed
25256405
uniprot
proteins
pubmed
31194252
uniprot
proteins
pubmed
7550232
uniprot
proteins
pubmed
7550242
uniprot
proteins
pubmed
7951228
uniprot
proteins
pubmed
7998955
uniprot
proteins
pubmed
8019563
uniprot
proteins
pubmed
8213840
uniprot
proteins
pubmed
8242073
uniprot
proteins
pubmed
8328452
uniprot
proteins
pubmed
8401515
uniprot
proteins
pubmed
8554071
uniprot
proteins
pubmed
8680403
uniprot
proteins
sequence_length
653
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000305}.
uniprot
proteins