Reactome | GALNS oligomer hydrolyses sulfate from Gal6S in keratan sulfate

GALNS oligomer hydrolyses sulfate from Gal6S in keratan sulfate

Stable Identifier

R-HSA-1630304

Type

Reaction [transition]

Species

Homo sapiens

Compartment

lysosomal lumen

ReviewStatus

5/5

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GALNS oligomer hydrolyses sulfate from Gal6S in keratan sulfate

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N-acetylgalactosamine 6-sulfate sulfatase (GALNS) hydrolyses sulfate from galactose 6-sulfate units of keratan sulfate (KS, shown here) and sulfate from N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate (CS, not shown) (Lim & Horwitz 1981, Masue et al. 1991). GALNS is a homodimer with each monomer binding a Ca2+ cofactor (Rivera-Colón et al., 2012). The conversion to 3-oxoalanine (C-formylglycine, FGly) of a cysteine residue in eukaryotes, is critical for catalytic activity, based on similarity to the prototypical arylsulfatase ARSA (Chruszcz et al. 2003, Lukatela et al. 1998). Defects in GALNS cause mucopolysaccharidosis type IVA (MPSIVA, MIM:253000), also called Morquio A syndrome, a lysosomal storage disease characterized by intracellular accumulation of KS and CS (Fukuda et al. 1992).

Literature References

PubMed ID	Title	Journal	Year
7213753	Purification and properties of human N-acetylgalactosamine-6-sulfate sulfatase Lim, CT, Horwitz, AL	Biochim Biophys Acta	1981
1794986	N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics Masue, M, Sukegawa, K, Orii, T, Hashimoto, T	J Biochem	1991
9521684	Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis Lukatela, G, Krauss, N, Theis, K, Selmer, T, Gieselmann, V, von Figura, K, Saenger, W	Biochemistry	1998
22940367	The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A Rivera-Colón, Y, Schutsky, EK, Kita, AZ, Garman, SC	J Mol Biol	2012
1522213	Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases Fukuda, S, Tomatsu, S, Masue, M, Sukegawa, K, Iwata, H, Ogawa, T, Nakashima, Y, Hori, T, Yamagishi, A, Hanyu, Y	J Clin Invest	1992
12888274	Crystal structure of a covalent intermediate of endogenous human arylsulfatase A Chruszcz, M, Laidler, P, Monkiewicz, M, Ortlund, E, Lebioda, L, Lewinski, K	J Inorg Biochem	2003