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Literature summary for 1.8.3.7 extracted from

  • Schlotawa, L.; Radhakrishnan, K.; Baumgartner, M.; Schmid, R.; Schmidt, B.; Dierks, T.; Gaertner, J.
    Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency (2013), Eur. J. Hum. Genet., 21, 1020-1023 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.8.3.7

Protein Variants

Protein Variants Comment Organism
E130D the mutation is associated with multiple sulfatase deficiency Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum
-
 Homo sapiens 5783
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
a [sulfatase]-L-cysteine + O2 + a thiol Homo sapiens
-
 a [sulfatase]-3-oxo-L-alanine + hydrogen sulfide + a disulfide + H2O
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q8NBK3
-
-

Purification (Commentary)

Purification (Comment) Organism
HisTrap column chromatography, and Superdex 200 gel filtration Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-
HT-1080 cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
a [sulfatase]-L-cysteine + O2 + a thiol
-
 Homo sapiens a [sulfatase]-3-oxo-L-alanine + hydrogen sulfide + a disulfide + H2O
-
 ?

Subunits

Subunits Comment Organism
? x * 41000, SDS-PAGE Homo sapiens

Synonyms

Synonyms Comment Organism
FGE
-
 Homo sapiens
formylglycine generating enzyme
-
 Homo sapiens
SUMF1
-
 Homo sapiens