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Identification
HMDB Protein ID HMDBP01596
Secondary Accession Numbers
  • 6901
  • HMDBP05372
Name Alpha-N-acetylglucosaminidase
Synonyms
  1. Alpha-N-acetylglucosaminidase 77 kDa form
  2. Alpha-N-acetylglucosaminidase 82 kDa form
  3. N-acetyl-alpha-glucosaminidase
  4. NAG
Gene Name NAGLU
Protein Type Enzyme
Biological Properties
General Function Involved in alpha-N-acetylglucosaminidase activity
Specific Function Involved in the degradation of heparan sulfate.
Pathways
  • Glycosaminoglycan degradation
  • Lysosome
Reactions
+ Water → + N-Acetyl-D-glucosamine details
GO Classification
Biological Process
small molecule metabolic process
glycosaminoglycan catabolic process
nervous system development
carbohydrate metabolic process
Cellular Component
lysosomal lumen
Molecular Function
alpha-N-acetylglucosaminidase activity
Cellular Location
  1. Lysosome
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs NAGLU
Gene Sequence
>2232 bp
ATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGC
GCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTG
GGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCG
GGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCC
ACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCAC
GTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAG
CTGACCGAGGCCACGCCCAACAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTAC
TCCTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAAT
GGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGGGTGTACCTG
GCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCC
TGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATC
AAGCAGCTTTACCTGCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCA
GTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGGTGTTCCCTCAGGTC
AATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTT
CTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATC
AAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCT
TCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCA
GTGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTC
TGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTT
CTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAG
CCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTA
GAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGC
ACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAG
CTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCC
CGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGT
GTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGG
CCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGG
CGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTG
CTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGA
AGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTAT
GAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGC
TGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAG
AACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAAC
AAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAG
GCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAAT
GTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGA
GGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCGGCTGGGTGGCC
GGCTCTTGGTGA
Protein Properties
Number of Residues 743
Molecular Weight Not Available
Theoretical pI Not Available
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Alpha-N-acetylglucosaminidase
MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKP
GLDTYSLGGGGAARVRVRGSTGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGE
LTEATPNRYRYYQNVCTQSYSFVWWDWARWEREIDWMALNGINLALAWSGQEAIWQRVYL
ALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIKQLYLQHRVLDQMRSFGMTP
VLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAPEDPIFPIIGSLFLRELI
KEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQF
WGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGAL
EAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAA
RRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAW
RLLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAY
ELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYAN
KQLAGLVANYYTPRWRLFLEALVDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPR
GDTVDLAKKIFLKYYPGWVAGSW
GenBank ID Protein 1171231
UniProtKB/Swiss-Prot ID P54802
UniProtKB/Swiss-Prot Entry Name ANAG_HUMAN
PDB IDs Not Available
GenBank Gene ID U43573
GeneCard ID NAGLU
GenAtlas ID NAGLU
HGNC ID HGNC:7632
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. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Emre S, Terzioglu M, Tokatli A, Coskun T, Ozalp I, Weber B, Hopwood JJ: Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. Hum Mutat. 2002 Feb;19(2):184-5. [PubMed:11793481 ]
  4. Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF: The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A. 1996 Jun 11;93(12):6101-5. [PubMed:8650226 ]
  5. Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ: Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). Hum Mol Genet. 1996 Jun;5(6):771-7. [PubMed:8776591 ]
  6. Zhao Z, Yazdani A, Shen Y, Sun Z, Bailey J, Caskey CT, Lee CC: Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for alpha-N-acetylglucosaminidase with two cDNA isoforms. Mamm Genome. 1996 Sep;7(9):686-90. [PubMed:8703123 ]
  7. Zhao HG, Aronovich EL, Whitley CB: Genotype-phenotype correspondence in Sanfilippo syndrome type B. Am J Hum Genet. 1998 Jan;62(1):53-63. [PubMed:9443875 ]
  8. Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF: NAGLU mutations underlying Sanfilippo syndrome type B. Am J Hum Genet. 1998 Jan;62(1):64-9. [PubMed:9443878 ]
  9. Beesley CE, Young EP, Vellodi A, Winchester BG: Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). J Med Genet. 1998 Nov;35(11):910-4. [PubMed:9832037 ]
  10. Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen OP, Beck M, Gal A: Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. J Med Genet. 1999 Jan;36(1):28-31. [PubMed:9950362 ]
  11. Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Poorthuis BJ, Hopwood JJ: Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet. 1999 Jan;7(1):34-44. [PubMed:10094189 ]
  12. Yogalingam G, Weber B, Meehan J, Rogers J, Hopwood JJ: Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. Biochim Biophys Acta. 2000 Nov 15;1502(3):415-25. [PubMed:11068184 ]
  13. Tessitore A, Villani GR, Di Domenico C, Filocamo M, Gatti R, Di Natale P: Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. Hum Genet. 2000 Dec;107(6):568-76. [PubMed:11153910 ]
  14. Coll MJ, Anton C, Chabas A: Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations. J Inherit Metab Dis. 2001 Feb;24(1):83-4. [PubMed:11286389 ]
  15. Tanaka A, Kimura M, Lan HT, Takaura N, Yamano T: Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations. J Hum Genet. 2002;47(9):484-7. [PubMed:12202988 ]
  16. Lee-Chen GJ, Lin SP, Lin SZ, Chuang CK, Hsiao KT, Huang CF, Lien WC: Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). J Med Genet. 2002 Feb;39(2):E3. [PubMed:11836372 ]
  17. Beesley C, Moraitou M, Winchester B, Schulpis K, Dimitriou E, Michelakakis H: Sanfilippo B syndrome: molecular defects in Greek patients. Clin Genet. 2004 Feb;65(2):143-9. [PubMed:14984474 ]
  18. Chinen Y, Tohma T, Izumikawa Y, Uehara H, Ohta T: Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. J Hum Genet. 2005;50(7):357-9. Epub 2005 Jun 3. [PubMed:15933803 ]
  19. Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG: Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis. 2005;28(5):759-67. [PubMed:16151907 ]