Hmdb loader
Identification
HMDB Protein ID HMDBP02166
Secondary Accession Numbers
  • 7650
Name N-acetylgalactosamine-6-sulfatase
Synonyms
  1. Chondroitinase
  2. Chondroitinsulfatase
  3. GalNAc6S sulfatase
  4. Galactose-6-sulfate sulfatase
  5. N-acetylgalactosamine-6-sulfate sulfatase
Gene Name GALNS
Protein Type Unknown
Biological Properties
General Function Involved in catalytic activity
Specific Function Not Available
Pathways
  • Glycosaminoglycan degradation
  • Lysosome
Reactions
+ Water → + Oat gum details
GO Classification
Biological Process
keratan sulfate catabolic process
carbohydrate metabolic process
Cellular Component
lysosomal lumen
Function
hydrolase activity, acting on ester bonds
catalytic activity
hydrolase activity
sulfuric ester hydrolase activity
Molecular Function
metal ion binding
N-acetylgalactosamine-6-sulfatase activity
N-acetylgalactosamine-4-sulfatase activity
Process
metabolic process
Cellular Location
  1. Lysosome
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs GALNS
Gene Sequence
>1569 bp
ATGGCGGCGGTTGTCGCGGCGACGAGGTGGTGGCAGCTGTTGCTGGTGCTCAGCGCCGCG
GGGATGGGGGCCTCGGGCGCCCCGCAGCCCCCCAACATCCTGCTCCTGCTCATGGACGAC
ATGGGATGGGGTGACCTCGGGGTGTATGGAGAGCCCTCCAGAGAGACCCCGAATTTGGAC
CGGATGGCTGCAGAAGGGCTGCTTTTCCCAAACTTCTATTCTGCCAACCCTCTGTGCTCG
CCATCGAGGGCGGCACTGCTCACAGGACGGCTACCCATCCGCAATGGCTTCTACACCACC
AACGCCCATGCCAGAAACGCCTACACACCGCAGGAGATTGTGGGCGGCATCCCAGACTCG
GAGCAGCTCCTGCCGGAGCTTCTGAAGAAGGCCGGCTACGTCAGCAAGATTGTCGGCAAG
TGGCATCTGGGTCACAGGCCCCAGTTCCACCCCCTGAAGCACGGATTTGATGAGTGGTTT
GGATCCCCCAACTGCCACTTTGGACCTTATGACAACAAGGCCAGGCCCAACATCCCTGTG
TACAGGGACTGGGAGATGGTTGGCAGATATTATGAAGAATTTCCTATTAATCTGAAGACG
GGGGAAGCCAACCTCACCCAGATCTACCTGCAGGAAGCCCTGGACTTCATTAAGAGACAG
GCACGGCACCACCCCTTTTTCCTCTACTGGGCTGTCGACGCCACGCACGCACCCGTCTAT
GCCTCCAAACCCTTCTTGGGCACCAGTCAGCGAGGGCGGTATGGAGACGCCGTCCGGGAG
ATTGATGACAGCATTGGGAAGATACTGGAGCTCCTCCAAGACCTGCACGTCGCGGACAAC
ACCTTCGTCTTCTTCACGTCGGACAACGGCGCTGCCCTCATTTCCGCCCCCGAACAAGGT
GGCAGCAACGGCCCCTTTCTGTGTGGGAAGCAGACCACGTTTGAAGGAGGGATGAGGGAG
CCTGCCCTCGCATGGTGGCCAGGGCACGTCACTGCAGGCCAGGTGAGCCACCAGCTGGGC
AGCATCATGGACCTCTTCACCACCAGCCTGGCCCTTGCGGGCCTGACGCCGCCCAGCGAC
AGGGCCATTGATGGCCTCAACCTCCTCCCCACCCTCCTGCAGGGCCGGCTGATGGACAGG
CCTATCTTCTATTACCGTGGCGACACGCTGATGGCGGCCACCCTCGGGCAGCACAAGGCT
CACTTCTGGACCTGGACCAACTCCTGGGAGAACTTCAGACAGGGCATTGATTTCTGCCCT
GGGCAGAACGTTTCAGGGGTCACAACTCACAATCTGGAAGACCACACGAAGCTGCCCCTG
ATCTTCCACCTGGGACGGGACCCAGGGGAGAGGTTCCCCCTCAGCTTTGCCAGCGCCGAG
TACCAGGAGGCCCTCAGCAGGATCACCTCGGTCGTCCAGCAGCACCAGGAGGCCTTGGTC
CCCGCGCAGCCCCAGCTCAACGTGTGCAACTGGGCGGTCATGAACTGGGCACCTCCGGGC
TGTGAAAAGTTAGGGAAGTGTCTGACACCTCCAGAATCCATTCCCAAGAAGTGCCTCTGG
TCCCACTAG
Protein Properties
Number of Residues 522
Molecular Weight Not Available
Theoretical pI Not Available
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>N-acetylgalactosamine-6-sulfatase
MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGDLGVYGEPSRETPNLD
RMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDS
EQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPV
YRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQARHHPFFLYWAVDATHAPVY
ASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQG
GSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSD
RAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCP
GQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFASAEYQEALSRITSVVQQHQEALV
PAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH
GenBank ID Protein 37589093
UniProtKB/Swiss-Prot ID P34059
UniProtKB/Swiss-Prot Entry Name GALNS_HUMAN
PDB IDs
GenBank Gene ID BC050684
GeneCard ID GALNS
GenAtlas ID GALNS
HGNC ID HGNC:4122
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. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed:16959974 ]
  4. Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, et al.: Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun. 1991 Dec 16;181(2):677-83. [PubMed:1755850 ]
  5. Morris CP, Guo XH, Apostolou S, Hopwood JJ, Scott HS: Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene. Genomics. 1994 Aug;22(3):652-4. [PubMed:8001980 ]
  6. Fukuda S, Tomatsu S, Masue M, Sukegawa K, Iwata H, Ogawa T, Nakashima Y, Hori T, Yamagishi A, Hanyu Y, et al.: Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. J Clin Invest. 1992 Sep;90(3):1049-53. [PubMed:1522213 ]
  7. Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi GM, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K, et al.: Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene. Am J Hum Genet. 1995 Sep;57(3):556-63. [PubMed:7668283 ]
  8. Ogawa T, Tomatsu S, Fukuda S, Yamagishi A, Rezvi GM, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Oru T: Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. Hum Mol Genet. 1995 Mar;4(3):341-9. [PubMed:7795586 ]
  9. Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi GM, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K, et al.: Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients. Hum Mol Genet. 1995 Apr;4(4):741-3. [PubMed:7633425 ]
  10. Tomatsu S, Fukuda S, Cooper A, Wraith JE, Yamada N, Isogai K, Kato Z, Sukegawa K, Kondo N, Suzuki Y, et al.: Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease). Hum Mutat. 1995;6(2):195-6. [PubMed:7581409 ]
  11. Tomatsu S, Fukuda S, Yamagishi A, Cooper A, Wraith JF, Hori T, Kato Z, Yamada N, Isogai K, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T: Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency. Am J Hum Genet. 1996 May;58(5):950-62. [PubMed:8651279 ]
  12. Cole DE, Fukuda S, Gordon BA, Rip JW, LeCouteur AN, Rupar CA, Tomatsu S, Ogawa T, Sukegawa K, Orii T: Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA). Am J Med Genet. 1996 Jun 28;63(4):558-65. [PubMed:8826435 ]
  13. Bunge S, Kleijer WJ, Tylki-Szymanska A, Steglich C, Beck M, Tomatsu S, Fukuda S, Poorthuis BJ, Czartoryska B, Orii T, Gal A: Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Hum Mutat. 1997;10(3):223-32. [PubMed:9298823 ]
  14. Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N, Isogai K, Yamagishi A, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Sly WS, Orii T: Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. Hum Mutat. 1997;10(5):368-75. [PubMed:9375852 ]
  15. Yamada N, Fukuda S, Tomatsu S, Muller V, Hopwood JJ, Nelson J, Kato Z, Yamagishi A, Sukegawa K, Kondo N, Orii T: Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. Hum Mutat. 1998;11(3):202-8. [PubMed:9521421 ]
  16. Tomatsu S, Fukuda S, Cooper A, Wraith JE, Yamagishi A, Kato Z, Yamada N, Isogai K, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Orii T: Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease. Hum Mutat. 1998;Suppl 1:S42-6. [PubMed:9452036 ]
  17. Tomatsu S, Montano AM, Nishioka T, Gutierrez MA, Pena OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T: Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat. 2005 Dec;26(6):500-12. [PubMed:16287098 ]