EC Number   |
General Information |
Reference |
|---|
   3.1.4.45 | evolution |
the enzyme is a member of the DUF2233-domain protein family |
730014 |
| 3.1.4.45 | evolution |
the enzyme is a member of the DUF2233-domain protein family. The most conserved residues are Asn130, His217, Arg219, Arg239, Asn268, Asp270, Gly271, Gly272, Gly273, Ser274, Arg303, and Val305. These residues are clustered on one side of the protein, and almost all have significant surface exposure. Of these, Asn268, Asp270, Gly271-273, and Ser274 are part of the highly conserved A(I/L)NLDGGGS(T/S/A)T motif present throughout the DUF2233 family and located in helix H7 and in the preceding loop between beta17 and H7 near the center of the conserved site |
-, 730014 |
| 3.1.4.45 | malfunction |
fibroblasts of individuals with persistent stuttering have decreased enzyme activity, the stuttering phenotype is presumed to arise from neuron dysfunction, overview |
715644 |
| 3.1.4.45 | metabolism |
the enzyme is a Golgi enzyme that mediates the second step in the synthesis of the D-mannose 6-phosphate lysosomal targeting signal on acid hydrolases |
715644 |
| 3.1.4.45 | more |
a sulfate ion is bound near Gly272-Gly273 of the GGGS sequence and anchored by conserved residues Arg239 and Arg303 and may represent the binding site for the phosphate moiety of the substrate. Asn130, Asp270, and Ser274 are potential catalytic residues |
-, 730014 |
| 3.1.4.45 | more |
the crystal structure of the BACOVA_00430 protein from Bacteroides ovatus is used to model the luminal portion of human enzyme. The Cys51-Cys221 disulfide bond is not absolutely essential for folding or enzyme activity |
730014 |
| 3.1.4.45 | physiological function |
most lysosomal enzymes including alpha-L-iduronidase require a mannose 6-phosphate tag for efficient uptake and lysosomal delivery in human cells. In mammalian cells, the mannose 6-phosphate tag is generated by the sequential action of two enzymes: UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, also known as GlcNAc-1-phosphotransferase, and N-acetylglucosamine 1-phosphodiester alpha-N-acetylglucosaminidase, i.e. the uncovering enzyme |
730579 |
| 3.1.4.45 | physiological function |
the enzyme is is involved in targeting of lysosomal enzymes |
730014 |
