SMPD1
iste genetske veze
Sfingomijelin-fosfodiesteraza 1 (SMPD1), znana i kao kisela sfingomijelinaza (ASM), je enzim koji je kod ljudi kodiran genom SMPD1. Sfingomijelin-osfodiesteraza 1 pripada porodici sfingomijelin-fosfodiesteraza.[5]
Aminokiselinska sekvenca
urediDužina polipeptidnog lanca je 629 aminokiselina, а molekulska težina 69.752 Da.[6]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MPRYGASLRQ | SCPRSGREQG | QDGTAGAPGL | LWMGLVLALA | LALALALSDS | ||||
| RVLWAPAEAH | PLSPQGHPAR | LHRIVPRLRD | VFGWGNLTCP | ICKGLFTAIN | ||||
| LGLKKEPNVA | RVGSVAIKLC | NLLKIAPPAV | CQSIVHLFED | DMVEVWRRSV | ||||
| LSPSEACGLL | LGSTCGHWDI | FSSWNISLPT | VPKPPPKPPS | PPAPGAPVSR | ||||
| ILFLTDLHWD | HDYLEGTDPD | CADPLCCRRG | SGLPPASRPG | AGYWGEYSKC | ||||
| DLPLRTLESL | LSGLGPAGPF | DMVYWTGDIP | AHDVWHQTRQ | DQLRALTTVT | ||||
| ALVRKFLGPV | PVYPAVGNHE | STPVNSFPPP | FIEGNHSSRW | LYEAMAKAWE | ||||
| PWLPAEALRT | LRIGGFYALS | PYPGLRLISL | NMNFCSRENF | WLLINSTDPA | ||||
| GQLQWLVGEL | QAAEDRGDKV | HIIGHIPPGH | CLKSWSWNYY | RIVARYENTL | ||||
| AAQFFGHTHV | DEFEVFYDEE | TLSRPLAVAF | LAPSATTYIG | LNPGYRVYQI | ||||
| DGNYSGSSHV | VLDHETYILN | LTQANIPGAI | PHWQLLYRAR | ETYGLPNTLP | ||||
| TAWHNLVYRM | RGDMQLFQTF | WFLYHKGHPP | SEPCGTPCRL | ATLCAQLSAR | ||||
| ADSPALCRHL | MPDGSLPEAQ | SLWPRPLFC |
Klinički značaj
urediDefekti u genu SMPD1 uzrokuju Niemann-Pickovu bolest, povezanu sa SMPD1.[5]
Mutacija L302P u genu SMPD1 je faktor rizika za Parkinsonovu bolest.[7]
Reference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000166311 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037049 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)".
- ^ "UniProt, P17405". Pristupljeno 27. 8. 2021.
- ^ Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A (april 2013). "The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease". Neurology. 80 (17): 1606–10. doi:10.1212/WNL.0b013e31828f180e. PMC 3662322. PMID 23535491.
Dopunska literatura
uredi- Stoffel W (novembar 1999). "Functional analysis of acid and neutral sphingomyelinases in vitro and in vivo". Chemistry and Physics of Lipids. 102 (1–2): 107–21. doi:10.1016/S0009-3084(99)00079-1. PMID 11001565.
- Newrzella D, Stoffel W (decembar 1992). "Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene". Biological Chemistry Hoppe-Seyler. 373 (12): 1233–8. doi:10.1515/bchm3.1992.373.2.1233. PMID 1292508.
- Takahashi T, Desnick RJ, Takada G, Schuchman EH (1993). "Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease". Human Mutation. 1 (1): 70–1. doi:10.1002/humu.1380010111. PMID 1301192. S2CID 31754300.
- Levran O, Desnick RJ, Schuchman EH (oktobar 1992). "Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients". Blood. 80 (8): 2081–7. doi:10.1182/blood.V80.8.2081.2081. PMID 1391960.
- Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH (juni 1992). "Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms". The Journal of Biological Chemistry. 267 (18): 12552–8. PMID 1618760.
- Schuchman EH, Levran O, Suchi M, Desnick RJ (juni 1991). "An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1)". Nucleic Acids Research. 19 (11): 3160. doi:10.1093/nar/19.11.3160. PMC 328296. PMID 1711683.
- Ferlinz K, Hurwitz R, Sandhoff K (septembar 1991). "Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A". Biochemical and Biophysical Research Communications. 179 (3): 1187–91. doi:10.1016/0006-291X(91)91697-B. PMID 1718266.
- Schuchman EH, Levran O, Pereira LV, Desnick RJ (februar 1992). "Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)". Genomics. 12 (2): 197–205. doi:10.1016/0888-7543(92)90366-Z. PMID 1740330.
- Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ (maj 1991). "Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs". The Journal of Biological Chemistry. 266 (13): 8531–9. PMID 1840600.
- Levran O, Desnick RJ, Schuchman EH (septembar 1991). "Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients". The Journal of Clinical Investigation. 88 (3): 806–10. doi:10.1172/JCI115380. PMC 295465. PMID 1885770.
- da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM, Schuchman EH (februar 1991). "Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4". Genomics. 9 (2): 229–34. doi:10.1016/0888-7543(91)90246-B. PMID 2004772.
- Levran O, Desnick RJ, Schuchman EH (maj 1991). "Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients". Proceedings of the National Academy of Sciences of the United States of America. 88 (9): 3748–52. doi:10.1073/pnas.88.9.3748. PMC 51530. PMID 2023926.
- Quintern LE, Schuchman EH, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K, Desnick RJ (septembar 1989). "Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts". The EMBO Journal. 8 (9): 2469–73. doi:10.1002/j.1460-2075.1989.tb08382.x. PMC 401234. PMID 2555181.
- Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH (juli 1995). "Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease". Nature Genetics. 10 (3): 288–93. doi:10.1038/ng0795-288. PMID 7670466. S2CID 37065681.
- Sperl W, Bart G, Vanier MT, Christomanou H, Baldissera I, Steichen-Gersdorf E, Paschke E (1994). "A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate". Journal of Inherited Metabolic Disease. 17 (1): 93–103. doi:10.1007/BF00735404. PMID 8051942. S2CID 12743175.
- Ida H, Rennert OM, Eto Y, Chan WY (juli 1993). "Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive". Journal of Biochemistry. 114 (1): 15–20. doi:10.1093/oxfordjournals.jbchem.a124131. PMID 8407868.
- Ida H, Rennert OM, Maekawa K, Eto Y (1996). "Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B". Human Mutation. 7 (1): 65–7. doi:10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q. PMID 8664904.
- Schuchman EH (1996). "Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X". Human Mutation. 6 (4): 352–4. doi:10.1002/humu.1380060412. PMID 8680412. S2CID 44787586.
- Takahashi T, Suchi M, Sato W, Ten SB, Sakuragawa N, Desnick RJ, Schuchman EH, Takada G (oktobar 1995). "Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease". The Tohoku Journal of Experimental Medicine. 177 (2): 117–23. doi:10.1620/tjem.177.117. PMID 8693491.
- Ferlinz K, Hurwitz R, Moczall H, Lansmann S, Schuchman EH, Sandhoff K (januar 1997). "Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis". European Journal of Biochemistry / FEBS. 243 (1–2): 511–7. doi:10.1111/j.1432-1033.1997.511_1a.x. PMID 9030779.