Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1066 |
| RareLSD_Id | 1066 |
| ENZYME | Formylglycine-generating enzyme |
| GENE | SUMF1 |
| E.C.NUMBER | 1.8.3.7 |
| FAMILY | sulfatase-modifying factor |
| CYTOGENETICS | 3p26.1 |
| DISEASE | Multiple sulfatase deficiency (MSD) |
| SNP | rs775324176,rs137852844,rs137852845,rs137852846,rs137852847 |
| DEPOSIT | GAGs,oligosaccharides,sulfatides |
| REF | 12757706, 25931126, 15907468, 12757705, 12757706, 15146462, 18157819, 21224894 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | NA |
| Catalytic Nucleophile | 3-oxoalanine |
| Catalytic Acid/Base | Molecular Oxygen |
| Substrate | a [sulfatase]-L-cysteine + O(2) + a thiol |
| Product | a [sulfatase]-3-oxo-L-alanine + hydrogen sulfide + a disulfide + H2O |
| Structure(PDB/Phyre2_ID) | 1Y1E |
| kM | 0.34 |
| DRUG | NA |
| SEQ LENGTH | 374 |
| AA SEQ | MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD |
| MODIFICATION | Asn141 |
| INHIBITOR | Furin,PACE4,PC5a |
| ACTIVE SITE RESIDUE | Cys336 |
| DISULPHIDE BRIDGES | *50-52,*218-365,*235-346 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | Resulting 3-oxoalanine in the substrate protein is called C-(alpha)-formylglycine |
| PARALOGS | SUMF2 |
| MECHANISM | oxidation of the Cys thiol to an aldehyde to generate fGly |
| INHERITANCE PATTERN | Autosomal Recessive |
| ORGAN AFFECTED | Ear,Eye,Heart,Liver,Spleen,Skin,Bone,Teeth,Nose |
| ENZYME LOCATION | NMBH |
| UniProt ID | Q8NBK3 |