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Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000543 Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_000543.4, 300795568
Length 2482 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.
Product sphingomyelin phosphodiesterase isoform 1 precursor

Summary: The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010].

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

RefSeq NP_000534.3
CDS 186..2081
Misc Feature(1)84..86
Misc Feature(2)447..449
Misc Feature(3)450..671
Misc Feature(4)531..533
Misc Feature(5)order(549..551,582..584)
Misc Feature(6)792..1679
Misc Feature(7)order(807..809,813..815,1023..1025,1143..1148,1464..1466,
Misc Feature(8)order(807..809,813..815,1023..1025,1143..1145,1464..1466,
Misc Feature(9)order(852..854,867..869)
Misc Feature(10)order(870..872,939..941)
Misc Feature(11)957..1748
Misc Feature(12)1194..1196
Misc Feature(13)order(1344..1346,1482..1484)
Misc Feature(14)order(1941..1943,1953..1955)
Misc Feature(15)order(1971..1973,2010..2012)
Exon (1)1..503
Gene Synonym:ASM; ASMASE; NPD
Exon (2)504..1276
Gene Synonym:ASM; ASMASE; NPD
Exon (3)1277..1448
Gene Synonym:ASM; ASMASE; NPD
Exon (4)1449..1525
Gene Synonym:ASM; ASMASE; NPD
Exon (5)1526..1671
Gene Synonym:ASM; ASMASE; NPD
Exon (6)1672..2472
Gene Synonym:ASM; ASMASE; NPD
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Position Chain Variation Link
24+a, gdbSNP:113418824
53+c, tdbSNP:372965365
54+a, gdbSNP:114874902
88+c, tdbSNP:147605872
120+a, gdbSNP:374470369
136+a, gdbSNP:200242748
141+c, gdbSNP:79282481
151+g, tdbSNP:375247947
174+a, gdbSNP:375787350
189+, cdbSNP:281860663
193+a, gdbSNP:199836262
211+g, tdbSNP:373013062
225+a, gdbSNP:11544727
241+a, gdbSNP:144465428
273+c, tdbSNP:376159116
284+a, gdbSNP:142178073
288+c, gdbSNP:201367689
291+g, tdbSNP:141685473
292+c, tdbSNP:1050228
293..298+, gctggcdbSNP:3838786
293+c, tdbSNP:61729852
298+cgctggcgctggcgctggc, tdbSNP:71467507
298+c, tdbSNP:78250081
304+c, tdbSNP:377374691
310+c, tdbSNP:200577287
320+g, tdbSNP:150867628
323+g, tdbSNP:200763765
328..329+, gctggc, gctggcgctggcdbSNP:71056748
332..335+, gtctdbSNP:281860676
347+c, tdbSNP:375248757
359+a, gdbSNP:368143181
362+a, gdbSNP:199586053
381+c, tdbSNP:139716279
complement(386)-g, adbSNP:11544728
396+a, gdbSNP:375224040
421+a, gdbSNP:201647015
438+a, gdbSNP:368200803
476+a, gdbSNP:144428799
482+c, gdbSNP:146630228
486+a, gdbSNP:369746362
490+a, gdbSNP:373475928
522+c, tdbSNP:140202512
523+a, gdbSNP:149770879
525+a, gdbSNP:142215226
528+a, gdbSNP:199913218
534+a, gdbSNP:202206564
558+c, tdbSNP:370048730
575+g, tdbSNP:371141815
579+a, gdbSNP:189859589
626+a, gdbSNP:148944108
633+c, tdbSNP:143719170
657+a, gdbSNP:369566518
708+c, tdbSNP:147607780
719+c, tdbSNP:142147633
744+c, tdbSNP:74053349
812+c, gdbSNP:200443318
821+c, tdbSNP:7951904
842+a, gdbSNP:202032347
874+a, gdbSNP:141387770
876+a, cdbSNP:199832734
893+a, gdbSNP:374604948
899+a, gdbSNP:2682091
complement(904)-t, cdbSNP:2634197
914+c, tdbSNP:149476159
915+a, gdbSNP:120074122
918+c, tdbSNP:370178721
927+a, g, tdbSNP:200763423
938+a, gdbSNP:374458858
942+c, gdbSNP:398123479
947+a, gdbSNP:143939609
952+c, tdbSNP:139882665
973+a, tdbSNP:120074120
981+c, gdbSNP:200681698
992+a, gdbSNP:35933246
993+a, gdbSNP:202244080
998+a, c, tdbSNP:61876771
1029+a, cdbSNP:199955808
1034..1035+, tccccgcadbSNP:281860677
1054+a, cdbSNP:376259993
1057+a, gdbSNP:1803161
1065+a, cdbSNP:120074128
1072+c, tdbSNP:35824453
1075+c, tdbSNP:150815128
1079+c, gdbSNP:371688255
1085+c, tdbSNP:368353322
complement(1086)-t, cdbSNP:2723669
1094+a, gdbSNP:201134693
1096+c, tdbSNP:120074124
1098+a, gdbSNP:199873765
1122+c, tdbSNP:149991096
1138+a, tdbSNP:12575136
1156+c, tdbSNP:1050233
1158..1159+, tgtdbSNP:398123480
1176+c, tdbSNP:142476839
1180+c, g, tdbSNP:202081954
1181+, cdbSNP:387906289
1191+a, gdbSNP:281860667
1206+c, tdbSNP:369841281
1207+a, c, gdbSNP:200242334
1211+g, tdbSNP:281860668
1222+c, tdbSNP:373508268
1239+g, tdbSNP:201550531
1241+g, tdbSNP:144408432
1256+c, tdbSNP:72896268
1266+c, tdbSNP:370198638
1267+a, gdbSNP:148892841
1291+a, gdbSNP:372287825
1310+c, tdbSNP:376871416
1317+c, tdbSNP:369088417
1320+c, tdbSNP:371738717
1329+c, tdbSNP:281860666
1337+a, gdbSNP:120074121
1339+a, gdbSNP:120074123
1362+g, tdbSNP:120074125
1388+c, gdbSNP:376494095
1411+g, tdbSNP:200838486
1418+c, tdbSNP:34555120
1452+c, tdbSNP:120074126
1471+c, tdbSNP:281860669
1473+c, g, tdbSNP:140688153
1478+g, tdbSNP:373816332
1484+g, tdbSNP:398123475
1494+c, tdbSNP:281860670
1497..1498+, gctggadbSNP:281860674
1499+a, cdbSNP:267607073
1512+c, g, tdbSNP:120074127
1513+a, gdbSNP:377609894
1530+c, gdbSNP:374018137
1534+a, gdbSNP:201953350
1536+a, cdbSNP:281865156
1545+g, tdbSNP:144624998
1567+a, cdbSNP:281860673
1591+a, cdbSNP:267607074
1605..1606+, ctdbSNP:398123476
1611+c, tdbSNP:182812968
1616+a, gdbSNP:138588535
1636+a, c, tdbSNP:267607075
1643+g, tdbSNP:281860665
1645+c, tdbSNP:141641266
1653+a, tdbSNP:398123477
1659+a, gdbSNP:144873307
1678+g, tdbSNP:120074117
1682..1683+ac, gtdbSNP:281860675
1706+c, tdbSNP:149423664
1707+a, gdbSNP:1050239
1714+c, tdbSNP:200652683
1719+a, gdbSNP:140806787
1724+c, gdbSNP:368806984
1735+a, tdbSNP:142787001
1741+a, tdbSNP:371837210
1746+c, tdbSNP:147258619
1757+c, tdbSNP:376815723
1772+a, gdbSNP:140770832
1774+c, gdbSNP:35122256
1783+c, tdbSNP:199915216
1809+c, tdbSNP:398123478
1810+a, gdbSNP:113467489
1817+c, tdbSNP:201659696
1833+a, gdbSNP:373079063
1838+a, gdbSNP:377371222
1856+c, gdbSNP:140271880
1860+a, g, tdbSNP:149939736
1877+c, tdbSNP:369787650
1878+a, gdbSNP:201127799
1893+a, gdbSNP:35475253
1920+a, gdbSNP:120074119
1925+c, tdbSNP:145079534
1929+c, tdbSNP:202192013
1933+c, tdbSNP:373940701
1934+c, tdbSNP:35098198
1948+a, gdbSNP:35785620
1956+c, tdbSNP:375570126
1957+a, gdbSNP:189116118
1967+c, tdbSNP:200974033
1980+a, cdbSNP:138531908
1990+a, gdbSNP:370129081
2013..2015+, cgcdbSNP:120074118
2013+c, tdbSNP:375915127
2014+a, gdbSNP:140269316
2024+a, gdbSNP:370828368
2067+c, tdbSNP:200332161
2118+a, tdbSNP:1803159
2126+a, gdbSNP:8164
2155+a, cdbSNP:1803160
2164+a, gdbSNP:138499616
2172+c, tdbSNP:12273714
2175+a, tdbSNP:142942704
2205+a, gdbSNP:1803158
2298+a, c, g, tdbSNP:1801044
2362..2363+, tdbSNP:35636371
2375+c, gdbSNP:12278115
2421+a, gdbSNP:373270465
Gene SymbolSMPD1
Gene SynonymASM; ASMASE; NPD
Locus Map11p15.4-p15.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001007593 Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 2, mRNA. On-demand TBD TBD
NM_000543 Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA. On-demand TBD TBD
XM_005253075 PREDICTED: Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant X2, mRNA. On-demand TBD TBD
Title Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease .
Author Foo JN, Liany H, Bei JX, Yu XQ, Liu J, Au WL, Prakash KM, Tan LC and Tan EK.
Journal Neurobiol. Aging 34 (12), 2890 (2013)
Title Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation .
Author Aykut A, Karaca E, Onay H, Ucar SK, Coker M, Cogulu O and Ozkinay F.
Journal Gene 526 (2), 484-486 (2013)
Title Acid sphingomyelinase-ceramide system mediates effects of antidepressant drugs .
Author Gulbins E, Palmada M, Reichel M, Luth A, Bohmer C, Amato D, Muller CP, Tischbirek CH, Groemer TW, Tabatabai G, Becker KA, Tripal P, Staedtler S, Ackermann TF, van Brederode J, Alzheimer C, Weller M, Lang UE, Kleuser B, Grassme H and Kornhuber J.
Journal Nat. Med. 19 (7), 934-938 (2013)
Title Acid Sphingomyelinase Deficiency .
Author McGovern,M.M. and Schuchman,E.H.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene .
Author Newrzella D and Stoffel W.
Journal Biol. Chem. Hoppe-Seyler 373 (12), 1233-1238 (1992)
Title Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease .
Author Takahashi T, Desnick RJ, Takada G and Schuchman EH.
Journal Hum. Mutat. 1 (1), 70-71 (1992)
Title Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs .
Author Schuchman EH, Suchi M, Takahashi T, Sandhoff K and Desnick RJ.
Journal J. Biol. Chem. 266 (13), 8531-8539 (1991)
Title Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients .
Author Levran O, Desnick RJ and Schuchman EH.
Journal Proc. Natl. Acad. Sci. U.S.A. 88 (9), 3748-3752 (1991)
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 .
Author da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM and Schuchman EH.
Journal Genomics 9 (2), 229-234 (1991)
Title Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts .
Author Quintern LE, Schuchman EH, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K and Desnick RJ.
Journal EMBO J. 8 (9), 2469-2473 (1989)

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