اسفنگومیلین فسفودی‌استراز ۱

SMPD1
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	5JG8
معین‌کننده‌ها
نام‌های دیگر	SMPD1, ASM, ASMASE, NPD, Sphingomyelin phosphodiesterase 1
شناسه‌های بیرونی	OMIM: 607608 MGI: 98325 HomoloGene: 457 GeneCards: SMPD1
موقعیت ژن (موش)
کروموزوم	کروموزوم ۷ (موش)
پایان	105,207,596 bp
الگوی گسترش RNA
	; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• sphingomyelin phosphodiesterase activity; • hydrolase activity, acting on glycosyl bonds; • GO:0001948، GO:0016582 پیوند پروتئینی; • hydrolase activity; • metal ion binding; • zinc ion binding; • acid sphingomyelin phosphodiesterase activity; • phosphoric diester hydrolase activity;
ترکیبات سلولی	• اندوزوم; • پوسته یاخته; • lamellar granule; • lysosomal lumen; • کافنده‌تن; • extracellular exosome; • extracellular region; • extracellular space;
فرایند زیستی	• termination of signal transduction; • glycosphingolipid metabolic process; • positive regulation of protein dephosphorylation; • ceramide biosynthetic process; • جنین‌شناسی دستگاه عصبی مرکزی; • sphingomyelin catabolic process; • مپ کیناز; • positive regulation of apoptotic process; • دگرگشت; • GO:0072468 ورارسانی پیام; • sphingomyelin metabolic process; • response to cocaine; • ceramide metabolic process; • cholesterol metabolic process;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	6609
	20597
	ENSG00000166311
	ENSMUSG00000037049
	P17405
	Q04519
	NM_001007593، NR_027400، XM_011520304، NM_001318087، NM_001318088، NR_134502، NM_001365135 NM_000543، NM_001007593، NR_027400، XM_011520304، NM_001318087، NM_001318088، NR_134502، NM_001365135
	NM_011421
	NP_001007594، NP_001305016، NP_001305017، XP_011518606، NP_001352064 NP_000534، NP_001007594، NP_001305016، NP_001305017، XP_011518606، NP_001352064
	NP_035551
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

اسفنگومیلین فسفودی‌استراز ۱ (انگلیسی: Sphingomyelin phosphodiesterase 1) یا به‌اختصار «SMPD1» که با نامِ «اسید اسفنگومیلیناز» (ASM) هم شناخته می‌شود، یک آنزیم است که در انسان توسط ژن «SMPD1» کدگذاری می‌شود و متعلق به خانوادهٔ بزرگ آنزیم‌های «اسفنگومیلین فسفودی‌استراز» است.^[۴]

نقص در این آنزیم موجب بروز «بیماری نیمن پیک وابسته به SMPD1» می‌شود.^[۴]

در عین حال، جهشِ L302P در ژنِ SMPD1 یکی از عوامل زمینه‌ساز برای بروز بیماری پارکینسون است.^[۵]

منابع[ویرایش]

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ 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.
↑ ^۴٫۰ ^۴٫۱ "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.

مشارکت‌کنندگان ویکی‌پدیا. «Sphingomyelin phosphodiesterase 1». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۰ مارس ۲۰۱۸.

بیشتر بخوانید[ویرایش]

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.
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. 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. 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. 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. 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. 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.
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.
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. 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.
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 / FEBS. 243 (1–2): 511–7. doi:10.1111/j.1432-1033.1997.511_1a.x. PMID 9030779.

این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000037049 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] ۴٫۰ ^۴٫۱ "Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)".

[pmid23535491-5] 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.

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