Showing Protein Alpha-L-iduronidase (HMDBP01593)

• 6890

• Glycosaminoglycan degradation
• Lysosome

1. Lysosome

>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

• Glyco_hydro_39 (PF01229 )

>Alpha-L-iduronidase
MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQ
ADQYVLSWDQQLNLAYVGAVPHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDL
LRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLARRYIGRYGLAHVSKWNFETW
NEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSFHTPPRSPLSWGLLRH
CHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEA
DPLVGWSLPQPWRADVTYAAMVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPF
AQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQLWAEVSQAGTVLDSNHTVGV
LASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGL
CSPDGEWRRLGRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLTLRPALRLPSLLLVHV
CARPEKPPGQVTRLRALPLTQGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPS
TFNLFVFSPDTGAVSGSYRVRALDYWARPGPFSDPVPYLEVPVPRGPPSPGNP

• 1Y24

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 ]