| RareLSD_Id | 1063 |
| ENZYME | Sphingomyelin phosphodiesterase |
| GENE | SMPD1 |
| E.C.NUMBER | 3.1.4.12 |
| FAMILY | Acid sphingomyelise |
| CYTOGENETICS | 11-p15.4 |
| DISEASE | Niemann-Pick Disease, Type a |
| SNP | rs1050228,rs1050233,rs1050239,rs1057516403,rs1057516432 |
| DEPOSIT | sphingomyelin |
| REF | 18815062, 12631268, 18088425 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 4 5 |
| Catalytic Nucleophile | His317 , His280 |
Catalytic Acid/Base
| H2O |
| Substrate | a sphingomyelin + H2O |
| Product | a ceramide + choline phosphate |
| Structure(PDB/Phyre2_ID) | 5JG8 |
| kM | 0.01871 NA 0.526 |
| DRUG | Acetylleucine,Ursodeoxycholic acid |
| SEQ LENGTH | 631 |
| AA SEQ | MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLFC |
| MODIFICATION | N-linked Glycosylation:Asn86,Asn175,Asn335,Asn395,Asn520,PHOSPHORYLATION:Ser508 |
| INHIBITOR | (1-aminodecane1,1diyl)bis(phosphonic acid);3',5'cAMP;3-acetyl11ketobetaboswellic acid;5-adenoylimino phosphate, AMP,D609,mannose 6-phosphate,plateletictivating factor ,prose E,sphingomyelin |
| ACTIVE SITE RESIDUE | Asp208,His210,Asp280,Asn320,His427,His459,His461 |
| DISULPHIDE BRIDGES | *91-167,*94-159,*122-133,*223-228,*229-252,*387-433,*586-590,*596-609 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | The catalytic domain adopts a calcineurinlike fold with two zinc ions and a hydrophobic track leading to the active site |
| PARALOGS | SMPDL3A,SMPDL3B |
| MECHANISM | Sphingomyelin + H2O = N-acylsphingosine + phosphocholine |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Eye,Liver,Lungs,Muscle,Spleen,Boness,Skin,Nervous System |
| ENZYME LOCATION | LMP |
| UniProt ID | P17405 |
