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Details of RareLSD ID 1045

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