Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1016 |
| RareLSD_Id | 1016 |
| ENZYME | Arylsulphatase A |
| GENE | ASRA |
| E.C.NUMBER | 3.1.6.8 |
| FAMILY | Arylsulphatase |
| CYTOGENETICS | 22q13.33 |
| DISEASE | Metachromatic leukodystrophy (MLD) |
| SNP | rs2071421,rs80338815,rs28940893,rs74315455,rs74315456,rs74315457,rs80338820,rs74315459,rs74315461,rs74315462,rs74315463,rs74315465,rs74315466,rs74315467,rs74315468,rs74315469,rs74315470,rs74315471,rs74315472,rs74315473,rs74315474,rs74315475,rs74315476,ARSA-1-BP DEL, 297C,ARSA-11-BP DEL, EX8,ARSA-1-BP DEL, 447C |
| DEPOSIT | sphingolipid cerebroside 3sulfate |
| REF | 7906588,8095918,7815433 ,9521684 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 4.3 |
| Catalytic Nucleophile | Ser102 |
| Catalytic Acid/Base | H2O |
| Substrate | cerebroside 3sulfate + H2O |
| Product | cerebroside + sulfate |
| Structure(PDB/Phyre2_ID) | 1AUK |
| kM | 0.1/0.2 |
| DRUG | Micafungin,N,4-DihydroxyNOxo3(Sulfooxy)Benzeminium,Suramin,2-Amino3-Hydroxy3-PhosphonooxyPropionic Acid |
| SEQ LENGTH | 413 |
| AA SEQ | MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA |
| MODIFICATION | N-linked Glycosylation:Asn158,Asn184,Asn350 |
| INHIBITOR | ceramide,cerebroside,cerebroside sulfate+phophatidylinositol phosphate,phosphatidylcholine,psychosine,sulfite,sphingomyelin |
| ACTIVE SITE RESIDUE | Asp29,Asp30,Asp281,FGly69,Lys302,Lys123,His229 |
| DISULPHIDE BRIDGES | *156-172,*161-168,*300-414,*488-500,*489-502,*493-499 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | Conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity |
| PARALOGS | ARSF,ARSI,ARSJ,ARSG,STS,ARSH,ARSB,GALNS,ARSE,ARSD |
| MECHANISM | Hydrolyzes cerebroside sulfate |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Eye,Nervous System,Muscle |
| ENZYME LOCATION | NMBH |
| UniProt ID | P15289 |