A mutation from leucine to proline at amino acid residue 302 encoded by the SMPD1 gene was identified by Gan-Or et al. (2013) as a risk factor for Parkinson disease.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000166311 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000037049 - Ensembl, May 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.
^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. PMC3662322. PMID 23535491.
Further readingedit
Stoffel W (November 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 (December 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 (October 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 (June 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. doi:10.1016/S0021-9258(18)42312-5. PMID 1618760.
Schuchman EH, Levran O, Suchi M, Desnick RJ (June 1991). "An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1)". Nucleic Acids Research. 19 (11): 3160. doi:10.1093/nar/19.11.3160. PMC328296. PMID 1711683.
Ferlinz K, Hurwitz R, Sandhoff K (September 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 (February 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 (May 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. doi:10.1016/S0021-9258(18)93007-3. PMID 1840600.
Levran O, Desnick RJ, Schuchman EH (September 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. PMC295465. PMID 1885770.
da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM, Schuchman EH (February 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 (May 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. Bibcode:1991PNAS...88.3748L. doi:10.1073/pnas.88.9.3748. PMC51530. PMID 2023926.
Quintern LE, Schuchman EH, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K, Desnick RJ (September 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. PMC401234. PMID 2555181.
Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH (July 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 (July 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. S2CID 6033746.
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 (October 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 (January 1997). "Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis". European Journal of Biochemistry. 243 (1–2): 511–7. doi:10.1111/j.1432-1033.1997.511_1a.x. PMID 9030779.
External linksedit
GeneReviews/NCBI/NIH/UW entry on Acid Sphingomyelinase Deficiency Includes: Niemann-Pick Disease Type A, Niemann-Pick Disease Type B
OMIM entries on Acid Sphingomyelinase Deficiency
Overview of all the structural information available in the PDB for UniProt: P17405 (Human Sphingomyelin phosphodiesterase) at the PDBe-KB.
This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.
sphingomyelin, phosphodiesterase, smpd1, also, known, acid, sphingomyelinase, enzyme, that, humans, encoded, smpd1, gene, smpd1available, structurespdbortholog, search, pdbe, rcsblist, codes5jg8identifiersaliasessmpd1, asmase, external, idsomim, 607608, 98325,. Sphingomyelin phosphodiesterase 1 SMPD1 also known as acid sphingomyelinase ASM is an enzyme that in humans is encoded by the SMPD1 gene SMPD1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes5JG8IdentifiersAliasesSMPD1 ASM ASMASE NPD Sphingomyelin phosphodiesterase 1External IDsOMIM 607608 MGI 98325 HomoloGene 457 GeneCards SMPD1Gene location Human Chr Chromosome 11 human 1 Band11p15 4Start6 390 440 bp 1 End6 394 998 bp 1 Gene location Mouse Chr Chromosome 7 mouse 2 Band7 E3 7 55 9 cMStart105 203 567 bp 2 End105 207 596 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed instromal cell of endometriumright lobe of liveranterior pituitaryleft ventricleright lobe of thyroid glandkidneyleft lobe of thyroid glandright adrenal glandascending aortaupper lobe of left lungTop expressed ininterventricular septumentorhinal cortexmyocardium of ventricleright ventricleextensor digitorum longus musclesuprachiasmatic nucleusmolarlipesophagusdorsal tegmental nucleusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionsphingomyelin phosphodiesterase activity hydrolase activity acting on glycosyl bonds protein binding hydrolase activity metal ion binding zinc ion binding acid sphingomyelin phosphodiesterase activity phosphoric diester hydrolase activityCellular componentendosome plasma membrane lamellar granule lysosomal lumen lysosome extracellular exosome extracellular region extracellular spaceBiological processtermination of signal transduction glycosphingolipid metabolic process positive regulation of protein dephosphorylation ceramide biosynthetic process nervous system development sphingomyelin catabolic process negative regulation of MAP kinase activity positive regulation of apoptotic process metabolism signal transduction sphingomyelin metabolic process response to cocaine ceramide metabolic process cholesterol metabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez660920597EnsemblENSG00000166311ENSMUSG00000037049UniProtP17405Q04519RefSeq mRNA NM 000543NM 001007593NM 001318087NM 001318088NM 001365135NM 011421RefSeq protein NP 000534NP 001007594NP 001305016NP 001305017NP 001352064NP 035551Location UCSC Chr 11 6 39 6 39 MbChr 7 105 2 105 21 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseSphingomyelin phosphodiesterase 1 belongs to the sphingomyelin phosphodiesterase family 5 Contents 1 Clinical significance 2 References 3 Further reading 4 External linksClinical significance editDefects in the SMPD1 gene cause Niemann Pick disease SMPD1 associated 5 A mutation from leucine to proline at amino acid residue 302 encoded by the SMPD1 gene was identified by Gan Or et al 2013 as a risk factor for Parkinson disease 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000166311 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000037049 Ensembl May 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 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 Further reading editStoffel W November 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 December 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 October 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 June 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 doi 10 1016 S0021 9258 18 42312 5 PMID 1618760 Schuchman EH Levran O Suchi M Desnick RJ June 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 September 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 February 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 May 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 doi 10 1016 S0021 9258 18 93007 3 PMID 1840600 Levran O Desnick RJ Schuchman EH September 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 February 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 May 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 Bibcode 1991PNAS 88 3748L 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 September 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 July 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 July 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 lt 65 AID HUMU10 gt 3 0 CO 2 Q PMID 8664904 S2CID 6033746 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 October 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 January 1997 Functional characterization of the N glycosylation sites of human acid sphingomyelinase by site directed mutagenesis European Journal of Biochemistry 243 1 2 511 7 doi 10 1111 j 1432 1033 1997 511 1a x PMID 9030779 External links editGeneReviews NCBI NIH UW entry on Acid Sphingomyelinase Deficiency Includes Niemann Pick Disease Type A Niemann Pick Disease Type B OMIM entries on Acid Sphingomyelinase Deficiency Overview of all the structural information available in the PDB for UniProt P17405 Human Sphingomyelin phosphodiesterase at the PDBe KB nbsp This article on a gene on human chromosome 11 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Sphingomyelin phosphodiesterase 1 amp oldid 1202378207, wikipedia, wiki, book, books, library,
