Sphingomyelin phosphodiesterase 1: Difference between revisions

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{{Infobox_gene}}
'''Sphingomyelin phosphodiesterase 1''' (SMPD1), also known as [[acid sphingomyelinase]] (ASM), is an [[enzyme]] that in humans is encoded by the ''SMPD1'' [[gene]].


Sphingomyelin phosphodiesterase 1 belongs to the [[sphingomyelin phosphodiesterase]] family.<ref name="entrez">{{cite web | title = Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6609| accessdate = }}</ref>


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== Clinical significance ==
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Defects in SMPD1 gene cause [[Niemann-Pick disease, SMPD1-associated]].<ref name="entrez"/>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
| HGNCid = 11120
| Symbol = SMPD1
| AltSymbols =; ASM; NPD
| OMIM = 607608
| ECnumber = 
| Homologene = 457
| MGIid = 98325
| GeneAtlas_image1 = PBB_GE_SMPD1_209420_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_SMPD1_216230_x_at_tn.png
| Function = {{GNF_GO|id=GO:0003676 |text = nucleic acid binding}} {{GNF_GO|id=GO:0004767 |text = sphingomyelin phosphodiesterase activity}} {{GNF_GO|id=GO:0008907 |text = integrase activity}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0016798 |text = hydrolase activity, acting on glycosyl bonds}}
| Component = {{GNF_GO|id=GO:0005764 |text = lysosome}}
| Process = {{GNF_GO|id=GO:0006685 |text = sphingomyelin catabolic process}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0008152 |text = metabolic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6609
    | Hs_Ensembl = ENSG00000166311
    | Hs_RefseqProtein = NP_000534
    | Hs_RefseqmRNA = NM_000543
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 6368231
    | Hs_GenLoc_end = 6372801
    | Hs_Uniprot = P17405
    | Mm_EntrezGene = 20597
    | Mm_Ensembl = ENSMUSG00000037049
    | Mm_RefseqmRNA = NM_011421
    | Mm_RefseqProtein = NP_035551
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 7
    | Mm_GenLoc_start = 105428213
    | Mm_GenLoc_end = 105432204
    | Mm_Uniprot = Q3UEE0
  }}
}}
'''Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)''', also known as '''SMPD1''', is a human [[sphingomyelin phosphodiesterase]].<ref name="entrez">{{cite web | title = Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6609| accessdate = }}</ref> Defects in SMPD1 gene cause [[Niemann-Pick disease]] type A.


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A L302P mutation in the SMPD1 gene as a risk factor for Parkinson disease.<ref name="pmid23535491">{{cite journal | vauthors = 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 | title = The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease | journal = Neurology | volume = 80 | issue = 17 | pages = 1606–10 | date = April 2013 | pmid = 23535491 | pmc = 3662322 | doi = 10.1212/WNL.0b013e31828f180e }}</ref>
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==References==
== References ==
{{reflist|2}}
{{reflist}}
==Further reading==
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Stoffel W | title = Functional analysis of acid and neutral sphingomyelinases in vitro and in vivo | journal = Chemistry and Physics of Lipids | volume = 102 | issue = 1-2 | pages = 107–21 | date = November 1999 | pmid = 11001565 | doi = 10.1016/S0009-3084(99)00079-1 }}
| citations =
* {{cite journal | vauthors = Newrzella D, Stoffel W | title = Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene | journal = Biological Chemistry Hoppe-Seyler | volume = 373 | issue = 12 | pages = 1233–8 | date = December 1992 | pmid = 1292508 | doi = 10.1515/bchm3.1992.373.2.1233 }}
*{{cite journal | author=Stoffel W |title=Functional analysis of acid and neutral sphingomyelinases in vitro and in vivo. |journal=Chem. Phys. Lipids |volume=102 |issue= 1-2 |pages= 107-21 |year= 2000 |pmid= 11001565 |doi= }}
* {{cite journal | vauthors = Takahashi T, Desnick RJ, Takada G, Schuchman EH | title = Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease | journal = Human Mutation | volume = 1 | issue = 1 | pages = 70–1 | year = 1993 | pmid = 1301192 | doi = 10.1002/humu.1380010111 }}
*{{cite journal | author=Newrzella D, Stoffel W |title=Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene. |journal=Biol. Chem. Hoppe-Seyler |volume=373 |issue= 12 |pages= 1233-8 |year= 1993 |pmid= 1292508 |doi= }}
* {{cite journal | vauthors = Levran O, Desnick RJ, Schuchman EH | title = Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients | journal = Blood | volume = 80 | issue = 8 | pages = 2081–7 | date = October 1992 | pmid = 1391960 | doi =  }}
*{{cite journal | author=Takahashi T, Desnick RJ, Takada G, Schuchman EH |title=Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. |journal=Hum. Mutat. |volume=1 |issue= 1 |pages= 70-1 |year= 1993 |pmid= 1301192 |doi= 10.1002/humu.1380010111 }}
* {{cite journal | vauthors = Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH | title = 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 | journal = The Journal of Biological Chemistry | volume = 267 | issue = 18 | pages = 12552–8 | date = June 1992 | pmid = 1618760 | doi =  }}
*{{cite journal | author=Levran O, Desnick RJ, Schuchman EH |title=Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. |journal=Blood |volume=80 |issue= 8 |pages= 2081-7 |year= 1992 |pmid= 1391960 |doi=  }}
* {{cite journal | vauthors = Schuchman EH, Levran O, Suchi M, Desnick RJ | title = An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1) | journal = Nucleic Acids Research | volume = 19 | issue = 11 | pages = 3160 | date = June 1991 | pmid = 1711683 | pmc = 328296 | doi = 10.1093/nar/19.11.3160 }}
*{{cite journal | author=Takahashi T, Suchi M, Desnick RJ, ''et al.'' |title=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. |journal=J. Biol. Chem. |volume=267 |issue= 18 |pages= 12552-8 |year= 1992 |pmid= 1618760 |doi=  }}
* {{cite journal | vauthors = Ferlinz K, Hurwitz R, Sandhoff K | title = Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A | journal = Biochemical and Biophysical Research Communications | volume = 179 | issue = 3 | pages = 1187–91 | date = September 1991 | pmid = 1718266 | doi = 10.1016/0006-291X(91)91697-B }}
*{{cite journal | author=Schuchman EH, Levran O, Suchi M, Desnick RJ |title=An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1). |journal=Nucleic Acids Res. |volume=19 |issue= 11 |pages= 3160 |year= 1991 |pmid= 1711683 |doi= }}
* {{cite journal | vauthors = Schuchman EH, Levran O, Pereira LV, Desnick RJ | title = Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1) | journal = Genomics | volume = 12 | issue = 2 | pages = 197–205 | date = February 1992 | pmid = 1740330 | doi = 10.1016/0888-7543(92)90366-Z }}
*{{cite journal | author=Ferlinz K, Hurwitz R, Sandhoff K |title=Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. |journal=Biochem. Biophys. Res. Commun. |volume=179 |issue= 3 |pages= 1187-91 |year= 1991 |pmid= 1718266 |doi= }}
* {{cite journal | vauthors = Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ | title = Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs | journal = The Journal of Biological Chemistry | volume = 266 | issue = 13 | pages = 8531–9 | date = May 1991 | pmid = 1840600 | doi =  }}
*{{cite journal | author=Schuchman EH, Levran O, Pereira LV, Desnick RJ |title=Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). |journal=Genomics |volume=12 |issue= 2 |pages= 197-205 |year= 1992 |pmid= 1740330 |doi= }}
* {{cite journal | vauthors = Levran O, Desnick RJ, Schuchman EH | title = 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 | journal = The Journal of Clinical Investigation | volume = 88 | issue = 3 | pages = 806–10 | date = September 1991 | pmid = 1885770 | pmc = 295465 | doi = 10.1172/JCI115380 }}
*{{cite journal | author=Schuchman EH, Suchi M, Takahashi T, ''et al.'' |title=Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. |journal=J. Biol. Chem. |volume=266 |issue= 13 |pages= 8531-9 |year= 1991 |pmid= 1840600 |doi=  }}
* {{cite journal | vauthors = da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM, Schuchman EH | title = 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 | journal = Genomics | volume = 9 | issue = 2 | pages = 229–34 | date = February 1991 | pmid = 2004772 | doi = 10.1016/0888-7543(91)90246-B }}
*{{cite journal | author=Levran O, Desnick RJ, Schuchman EH |title=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. |journal=J. Clin. Invest. |volume=88 |issue= 3 |pages= 806-10 |year= 1991 |pmid= 1885770 |doi= }}
* {{cite journal | vauthors = Levran O, Desnick RJ, Schuchman EH | title = Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 88 | issue = 9 | pages = 3748–52 | date = May 1991 | pmid = 2023926 | pmc = 51530 | doi = 10.1073/pnas.88.9.3748 }}
*{{cite journal | author=da Veiga Pereira L, Desnick RJ, Adler DA, ''et al.'' |title=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. |journal=Genomics |volume=9 |issue= 2 |pages= 229-34 |year= 1991 |pmid= 2004772 |doi= }}
* {{cite journal | vauthors = Quintern LE, Schuchman EH, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K, Desnick RJ | title = Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts | journal = The EMBO Journal | volume = 8 | issue = 9 | pages = 2469–73 | date = September 1989 | pmid = 2555181 | pmc = 401234 | doi =  }}
*{{cite journal | author=Levran O, Desnick RJ, Schuchman EH |title=Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 9 |pages= 3748-52 |year= 1991 |pmid= 2023926 |doi= }}
* {{cite journal | vauthors = Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH | title = Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease | journal = Nature Genetics | volume = 10 | issue = 3 | pages = 288–93 | date = July 1995 | pmid = 7670466 | doi = 10.1038/ng0795-288 }}
*{{cite journal | author=Quintern LE, Schuchman EH, Levran O, ''et al.'' |title=Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts. |journal=EMBO J. |volume=8 |issue= 9 |pages= 2469-73 |year= 1989 |pmid= 2555181 |doi=  }}
* {{cite journal | vauthors = Sperl W, Bart G, Vanier MT, Christomanou H, Baldissera I, Steichen-Gersdorf E, Paschke E | title = A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate | journal = Journal of Inherited Metabolic Disease | volume = 17 | issue = 1 | pages = 93–103 | year = 1994 | pmid = 8051942 | doi = 10.1007/BF00735404 }}
*{{cite journal | author=Horinouchi K, Erlich S, Perl DP, ''et al.'' |title=Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. |journal=Nat. Genet. |volume=10 |issue= 3 |pages= 288-93 |year= 1995 |pmid= 7670466 |doi= 10.1038/ng0795-288 }}
* {{cite journal | vauthors = Ida H, Rennert OM, Eto Y, Chan WY | title = Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive | journal = Journal of Biochemistry | volume = 114 | issue = 1 | pages = 15–20 | date = July 1993 | pmid = 8407868 | doi =  }}
*{{cite journal | author=Sperl W, Bart G, Vanier MT, ''et al.'' |title=A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate. |journal=J. Inherit. Metab. Dis. |volume=17 |issue= 1 |pages= 93-103 |year= 1994 |pmid= 8051942 |doi= }}
* {{cite journal | vauthors = Ida H, Rennert OM, Maekawa K, Eto Y | title = Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B | journal = Human Mutation | volume = 7 | issue = 1 | pages = 65–7 | year = 1996 | pmid = 8664904 | doi = 10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q }}
*{{cite journal | author=Ida H, Rennert OM, Eto Y, Chan WY |title=Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive. |journal=J. Biochem. |volume=114 |issue= 1 |pages= 15-20 |year= 1993 |pmid= 8407868 |doi=  }}
* {{cite journal | vauthors = Schuchman EH | title = Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X | journal = Human Mutation | volume = 6 | issue = 4 | pages = 352–4 | year = 1996 | pmid = 8680412 | doi = 10.1002/humu.1380060412 }}
*{{cite journal | author=Ida H, Rennert OM, Maekawa K, Eto Y |title=Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B. |journal=Hum. Mutat. |volume=7 |issue= 1 |pages= 65-7 |year= 1996 |pmid= 8664904 |doi= 10.1002/(SICI)1098-1004(1996)7:1&lt;65::AID-HUMU10&gt;3.0.CO;2-Q }}
* {{cite journal | vauthors = Takahashi T, Suchi M, Sato W, Ten SB, Sakuragawa N, Desnick RJ, Schuchman EH, Takada G | title = Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease | journal = The Tohoku Journal of Experimental Medicine | volume = 177 | issue = 2 | pages = 117–23 | date = October 1995 | pmid = 8693491 | doi = 10.1620/tjem.177.117 }}
*{{cite journal | author=Schuchman EH |title=Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X. |journal=Hum. Mutat. |volume=6 |issue= 4 |pages= 352-4 |year= 1996 |pmid= 8680412 |doi= 10.1002/humu.1380060412 }}
* {{cite journal | vauthors = Ferlinz K, Hurwitz R, Moczall H, Lansmann S, Schuchman EH, Sandhoff K | title = Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis | journal = European Journal of Biochemistry / FEBS | volume = 243 | issue = 1-2 | pages = 511–7 | date = January 1997 | pmid = 9030779 | doi = 10.1111/j.1432-1033.1997.511_1a.x }}
*{{cite journal | author=Takahashi T, Suchi M, Sato W, ''et al.'' |title=Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease. |journal=Tohoku J. Exp. Med. |volume=177 |issue= 2 |pages= 117-23 |year= 1996 |pmid= 8693491 |doi= }}
*{{cite journal | author=Ferlinz K, Hurwitz R, Moczall H, ''et al.'' |title=Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis. |journal=Eur. J. Biochem. |volume=243 |issue= 1-2 |pages= 511-7 |year= 1997 |pmid= 9030779 |doi= }}
}}
{{refend}}
{{refend}}


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== External links ==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/books/NBK1370/  GeneReviews/NCBI/NIH/UW entry on Acid Sphingomyelinase Deficiency Includes: Niemann-Pick Disease Type A, Niemann-Pick Disease Type B]
* [https://www.ncbi.nlm.nih.gov/omim/257200,607608,607616,257200,607608,607616  OMIM entries on Acid Sphingomyelinase Deficiency]
 
{{Esterases}}
{{Glycolipid/sphingolipid metabolism enzymes}}
 
{{gene-11-stub}}

Latest revision as of 23:08, 14 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

Sphingomyelin phosphodiesterase 1 (SMPD1), also known as acid sphingomyelinase (ASM), is an enzyme that in humans is encoded by the SMPD1 gene.

Sphingomyelin phosphodiesterase 1 belongs to the sphingomyelin phosphodiesterase family.[1]

Clinical significance

Defects in SMPD1 gene cause Niemann-Pick disease, SMPD1-associated.[1]

A L302P mutation in the SMPD1 gene as a risk factor for Parkinson disease.[2]

References

  1. ↑ 1.0 1.1 "Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)".
  2. ↑ 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

External links

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