| RareLSD_Id | 1045 |
| ENZYME | Hyaluronidase 1 |
| GENE | HYAL1 |
| E.C.NUMBER | 3.2.1.35 |
| FAMILY | GH 56 |
| CYTOGENETICS | 3p21.31 |
| DISEASE | Mucopolysaccharidosis 9(MPS9) |
| SNP | rs104893743,rs182987423,rs368957453,rs117179004 |
| DEPOSIT | hyaluronan |
| REF | 16600643, 10339581, 17503783, 10702795 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 3.8 |
| Catalytic Nucleophile | H2O |
Catalytic Acid/Base
| Glu131,Tyr202 |
| Substrate | hyaluron+water |
| Product | NA |
| Structure(PDB/Phyre2_ID) | IDXT |
| kM | 0.038-0.367 |
| DRUG | NA |
| SEQ LENGTH | 435 |
| AA SEQ | MAAHLLPICALFLTLLDMAQGFRGPLLPNRPFTTVWNANTQWCLERHGVDVDVSVFDVVANPGQTFRGPDMTIFYSSQLGTYPYYTPTGEPVFGGLPQNASLIAHLARTFQDILAAIPAPDFSGLAVIDWEAWRPRWAFNWDTKDIYRQRSRALVQAQHPDWPAPQVEAVAQDQFQGAARAWMAGTLQLGRALRPRGLWGFYGFPDCYNYDFLSPNYTGQCPSGRAQNDQLGWLWGQSRALYPSIYMPAVLEGTGKSQMYQHRVAEAFRVAVAAGDPNLPVLPYVQIFYDTTNHFLPLDELEHSLGESAAQGAAGVVLWVSWENTRTKESCQAIKEYMDTTLGPFILNVTSGALLCSQALCSGHGRCVRRTSHPKALLLLNPASFSIQLTPGGGPLSLRGALSLEDQAQMAVEFKCRCYPGWQAPWCERKSMW |
| MODIFICATION | N-linked Glycosylation:Asn99,Asn216,Asn350 |
| INHIBITOR | 6-palmitoyl-L-ascorbic acid,fully O-sulfonated chondroitin sulfate,glutathione,quinol,N-acetyl-L-cysteine,heparan sulfate |
| ACTIVE SITE RESIDUE | Tyr75,Trp141,Tyr202,Tyr208,Tyr210,Tyr247,Tyr261,Tyr286,Trp321 |
| DISULPHIDE BRIDGES | *43-333,*207-221,*358-369,*363-418,*420-429 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | HYAL3,HYAL2,HYAL4,SPAM1 |
| MECHANISM | Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nose,Boness,Skin |
| ENZYME LOCATION | NMBH |
| UniProt ID | Q12794 |
