Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1061 |
| RareLSD_Id | 1061 |
| ENZYME | Sialidase1 |
| GENE | NEU1 |
| E.C.NUMBER | 3.2.1.18 |
| FAMILY | GH33 |
| CYTOGENETICS | 6p21.33 |
| DISEASE | Sialidosis (mucolipidosis type I) |
| SNP | rs104893971,rs104893972,rs104893977,rs104893978,rs104893979 |
| DEPOSIT | mucopolysaccharides, mucolipids |
| REF | 8985184, 25153125, 19666471, 29693572 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 4.6 |
| Catalytic Nucleophile | Tyr370 |
| Catalytic Acid/Base | Glu103 |
| Substrate | (Nglycolylneuraminic acid)(alpha2,3)Galbetapnitrophenol + H2O |
| Product | Nglycolylneuraminic acid + 4nitrophenol + ? |
| Structure(PDB/Phyre2_ID) | 2F0Z |
| kM | 4.8 |
| DRUG | NA |
| SEQ LENGTH | 415 |
| AA SEQ | MTGERPSTALPDRRWGPRILGFWGGCRVWVFAAIFLLLSLAASWSKAENDFGLVQPLVTMEQLLWVSGRQIGSVDTFRIPLITATPRGTLLAFAEARKMSSSDEGAKFIALRRSMDQGSTWSPTAFIVNDGDVPDGLNLGAVVSDVETGVVFLFYSLCAHKAGCQVASTMLVWSKDDGVSWSTPRNLSLDIGTEVFAPGPGSGIQKQREPRKGRLIVCGHGTLERDGVFCLLSDDHGASWRYGSGVSGIPYGQPKQENDFNPDECQPYELPDGSVVINARNQNNYHCHCRIVLRSYDACDTLRPRDVTFDPELVDPVVAAGAVVTSSGIVFFSNPAHPEFRVNLTLRWSFSNGTSWRKETVQLWPGPSGYSSLATLEGSMDGEEQAPQLYVLYEKGRNHYTESISVAKISVYGTL |
| MODIFICATION | N-linked Glycosylation:Asn186,Asn343,Asn352 |
| INHIBITOR | 2-deoxy2,3-didehydroD-N-acetylneuraminic acid;4,5-diacetamido2-fluorobenzoic acid,K+,Mn2+ |
| ACTIVE SITE RESIDUE | Tyr370,Glu103,Glu394 |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | NA |
| MISCELLANEOUS | Catalytic activation of NEU1 is PPCA dependent |
| PARALOGS | NA |
| MECHANISM | Hydrolysis of alpha(2>3), alpha(2>6), alpha(2>8) glycosidic linkages of termil sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Head,Nose,Boness,Skin,Ear,Eye,Liver,Lungs,Muscle,Spleen,Nervous System,HEart |
| ENZYME LOCATION | NMBH |
| UniProt ID | Q99519 |