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Identification
HMDB Protein ID HMDBP01593
Secondary Accession Numbers
  • 6890
Name Alpha-L-iduronidase
Synonyms Not Available
Gene Name IDUA
Protein Type Enzyme
Biological Properties
General Function Carbohydrate transport and metabolism
Specific Function Not Available
Pathways
  • Glycosaminoglycan degradation
  • Lysosome
Reactions
+ Water → + Iduronic acid details
+ Water → + Iduronic acid details
GO Classification
Biological Process
limb morphogenesis
cell morphogenesis
chemical homeostasis
disaccharide metabolic process
skeletal system morphogenesis
chondroitin sulfate catabolic process
lysosome organization
Cellular Component
lysosomal lumen
Function
ion binding
cation binding
binding
catalytic activity
hydrolase activity
hydrolase activity, acting on glycosyl bonds
hydrolase activity, hydrolyzing o-glycosyl compounds
Molecular Function
cation binding
L-iduronidase activity
Process
metabolic process
primary metabolic process
carbohydrate metabolic process
Cellular Location
  1. Lysosome
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs IDUA
Gene Sequence
>1962 bp
ATGCGTCCCCTGCGCCCCCGCGCCGCGCTGCTGGCGCTCCTGGCCTCGCTCCTGGCCGCG
CCCCCGGTGGCCCCGGCCGAGGCCCCGCACCTGGTGCAGGTGGACGCGGCCCGCGCGCTG
TGGCCCCTGCGGCGCTTCTGGAGGAGCACAGGCTTCTGCCCCCCGCTGCCACACAGCCAG
GCTGACCAGTACGTCCTCAGCTGGGACCAGCAGCTCAACCTCGCCTATGTGGGCGCCGTC
CCTCACCGCGGCATCAAGCAGGTCCGGACCCACTGGCTGCTGGAGCTTGTCACCACCAGG
GGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACTTGGACCTT
CTCAGGGAGAACCAGCTCCTCCCAGGGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTC
ACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCC
AGGAGATACATCGGTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGG
AATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAGGCTTCCTGAAC
TACTACGATGCCTGCTCGGAGGGTCTGCGCGCCGCCAGCCCCGCCCTGCGGCTGGGAGGC
CCCGGCGACTCCTTCCACACCCCACCGCGATCCCCGCTGAGCTGGGGCCTCCTGCGCCAC
TGCCACGACGGTACCAACTTCTTCACTGGGGAGGCGGGCGTGCGGCTGGACTACATCTCC
CTCCACAGGAAGGGTGCGCGCAGCTCCATCTCCATCCTGGAGCAGGAGAAGGTCGTCGCG
CAGCAGATCCGGCAGCTCTTCCCCAAGTTCGCGGACACCCCCATTTACAACGACGAGGCG
GACCCGCTGGTGGGCTGGTCCCTGCCACAGCCGTGGAGGGCGGACGTGACCTACGCGGCC
ATGGTGGTGAAGGTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCC
TTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTC
GCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAG
CTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGGATGAGGAGCAG
CTCTGGGCCGAAGTGTCGCAGGCCGGGACCGTCCTGGACAGCAACCACACGGTGGGCGTC
CTGGCCAGCGCCCACCGCCCCCAGGGCCCGGCCGACGCCTGGCGCGCCGCGGTGCTGATC
TACGCGAGCGACGACACCCGCGCCCACCCCAACCGCAGCGTCGCGGTGACCCTGCGGCTG
CGCGGGGTGCCCCCCGGCCCGGGCCTGGTCTACGTCACGCGCTACCTGGACAACGGGCTC
TGCAGCCCCGACGGCGAGTGGCGGCGCCTGGGCCGGCCCGTCTTCCCCACGGCAGAGCAG
TTCCGGCGCATGCGCGCGGCTGAGGACCCGGTGGCCGCGGCGCCCCGCCCCTTACCCGCC
GGCGGCCGCCTGACCCTGCGCCCCGCGCTGCGGCTGCCGTCGCTTTTGCTGGTGCACGTG
TGTGCGCGCCCCGAGAAGCCGCCCGGGCAGGTCACGCGGCTCCGCGCCCTGCCCCTGACC
CAAGGGCAGCTGGTTCTGGTCTGGTCGGATGAACACGTGGGCTCCAAGTGCCTGTGGACA
TACGAGATCCAGTTCTCTCAGGACGGTAAGGCGTACACCCCGGTCAGCAGGAAGCCATCG
ACCTTCAACCTCTTTGTGTTCAGCCCAGACACAGGTGCTGTCTCTGGCTCCTACCGAGTT
CGAGCCCTGGACTACTGGGCCCGACCAGGCCCCTTCTCGGACCCTGTGCCGTACCTGGAG
GTCCCTGTGCCAAGAGGGCCCCCATCCCCGGGCAATCCATGA
Protein Properties
Number of Residues 653
Molecular Weight Not Available
Theoretical pI Not Available
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Alpha-L-iduronidase
MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQ
ADQYVLSWDQQLNLAYVGAVPHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDL
LRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLARRYIGRYGLAHVSKWNFETW
NEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSFHTPPRSPLSWGLLRH
CHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEA
DPLVGWSLPQPWRADVTYAAMVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPF
AQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQLWAEVSQAGTVLDSNHTVGV
LASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGL
CSPDGEWRRLGRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLTLRPALRLPSLLLVHV
CARPEKPPGQVTRLRALPLTQGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPS
TFNLFVFSPDTGAVSGSYRVRALDYWARPGPFSDPVPYLEVPVPRGPPSPGNP
GenBank ID Protein 184559
UniProtKB/Swiss-Prot ID P35475
UniProtKB/Swiss-Prot Entry Name IDUA_HUMAN
PDB IDs
GenBank Gene ID M74715
GeneCard ID IDUA
GenAtlas ID Not Available
HGNC ID HGNC:5391
References
General References
  1. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. doi: 10.1021/pr8008012. [PubMed:19159218 ]
  2. Scott HS, Anson DS, Orsborn AM, Nelson PV, Clements PR, Morris CP, Hopwood JJ: Human alpha-L-iduronidase: cDNA isolation and expression. Proc Natl Acad Sci U S A. 1991 Nov 1;88(21):9695-9. [PubMed:1946389 ]
  3. Scott HS, Guo XH, Hopwood JJ, Morris CP: Structure and sequence of the human alpha-L-iduronidase gene. Genomics. 1992 Aug;13(4):1311-3. [PubMed:1505961 ]
  4. Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ: Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat. 1995;6(4):288-302. [PubMed:8680403 ]
  5. Clarke LA, Nelson PV, Warrington CL, Morris CP, Hopwood JJ, Scott HS: Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. Hum Mutat. 1994;3(3):275-82. [PubMed:8019563 ]
  6. Clarke LA, Scott HS: Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene. Hum Mol Genet. 1993 Aug;2(8):1311-2. [PubMed:8401515 ]
  7. Scott HS, Litjens T, Nelson PV, Thompson PR, Brooks DA, Hopwood JJ, Morris CP: Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. Am J Hum Genet. 1993 Nov;53(5):973-86. [PubMed:8213840 ]
  8. Bach G, Moskowitz SM, Tieu PT, Matynia A, Neufeld EF: Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet. 1993 Aug;53(2):330-8. [PubMed:8328452 ]
  9. Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP: alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Hum Mutat. 1992;1(4):333-9. [PubMed:1301941 ]
  10. Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A: Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet. 1994 Jun;3(6):861-6. [PubMed:7951228 ]
  11. Scott HS, Litjens T, Hopwood JJ, Morris CP: PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene. Hum Genet. 1992 Nov;90(3):327. [PubMed:1362562 ]
  12. Scott HS, Nelson PV, Litjens T, Hopwood JJ, Morris CP: Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype. Hum Mol Genet. 1993 Sep;2(9):1471-3. [PubMed:8242073 ]
  13. Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF: Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). Hum Mutat. 1995;6(1):55-9. [PubMed:7550232 ]
  14. Bunge S, Kleijer WJ, Steglich C, Beck M, Schwinger E, Gal A: Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. Hum Mutat. 1995;6(1):91-4. [PubMed:7550242 ]
  15. Aronovich EL, Pan D, Whitley CB: Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency. Am J Hum Genet. 1996 Jan;58(1):75-85. [PubMed:8554071 ]
  16. Lee-Chen GJ, Lin SP, Tang YF, Chin YW: Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. Clin Genet. 1999 Jul;56(1):66-70. [PubMed:10466419 ]
  17. Teng YN, Wang TR, Hwu WL, Lin SP, Lee-Chen GJ: Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. Clin Genet. 2000 Feb;57(2):131-6. [PubMed:10735634 ]
  18. Matte U, Yogalingam G, Brooks D, Leistner S, Schwartz I, Lima L, Norato DY, Brum JM, Beesley C, Winchester B, Giugliani R, Hopwood JJ: Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Mol Genet Metab. 2003 Jan;78(1):37-43. [PubMed:12559846 ]
  19. Yogalingam G, Guo XH, Muller VJ, Brooks DA, Clements PR, Kakkis ED, Hopwood JJ: Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum Mutat. 2004 Sep;24(3):199-207. [PubMed:15300847 ]