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Database:

Blast Method:

 
 


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


RefSeq Accession Definition Services Price Order
NM_000543 Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA. ORF Sequence $549.84
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_000543.4, 300795568
Length 2482 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.
Product sphingomyelin phosphodiesterase isoform 1 precursor
Comment

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)990..1574
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:SMPD1
Gene Synonym:ASM; ASMASE; NPD
Exon (2)504..1276
Gene:SMPD1
Gene Synonym:ASM; ASMASE; NPD
Exon (3)1277..1448
Gene:SMPD1
Gene Synonym:ASM; ASMASE; NPD
Exon (4)1449..1525
Gene:SMPD1
Gene Synonym:ASM; ASMASE; NPD
Exon (5)1526..1671
Gene:SMPD1
Gene Synonym:ASM; ASMASE; NPD
Exon (6)1672..2472
Gene:SMPD1
Gene Synonym:ASM; ASMASE; NPD
Translation MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAE AHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIK LCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISL PTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASR PGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTT VTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEAL RTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGD KVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAV AFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYR ARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLS ARADSPALCRHLMPDGSLPEAQSLWPRPLFC
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Position Chain Variation Link
24+dbSNP:
24+a, gdbSNP:113418824
54+a, gdbSNP:114874902
88+c, tdbSNP:147605872
136+a, gdbSNP:200242748
141+c, gdbSNP:79282481
189+, cdbSNP:281860663
193+a, gdbSNP:199836262
225+a, gdbSNP:11544727
241+a, gdbSNP:144465428
284+a, gdbSNP:142178073
288+c, gdbSNP:201367689
291+g, tdbSNP:141685473
292..293+, cgcdbSNP:72146462
292+cgctggcgctggcgctggc, tdbSNP:71467507
292+c, tdbSNP:1050228
293..298+, gctggcdbSNP:3838786
293+c, tdbSNP:61729852
293+, gctggcdbSNP:79099937
294..295+, gcgdbSNP:72338290
296..297+, ggcgctdbSNP:72215592
297..302+, gcgctgdbSNP:72079161
298..303+, cgctggdbSNP:72029585
298+c, tdbSNP:78250081
310+c, tdbSNP:200577287
320+g, tdbSNP:150867628
323+g, tdbSNP:200763765
328..329+, gctggcgctggcdbSNP:71056748
332..335+, gtctdbSNP:281860676
362+a, gdbSNP:199586053
381+c, tdbSNP:139716279
386+a, gdbSNP:11544728
421+a, gdbSNP:201647015
476+a, gdbSNP:144428799
482+c, gdbSNP:146630228
522+dbSNP:
522+c, tdbSNP:140202512
523+a, gdbSNP:149770879
525+a, gdbSNP:142215226
528+a, gdbSNP:199913218
534+a, gdbSNP:202206564
579+a, gdbSNP:189859589
626+a, gdbSNP:148944108
633+c, tdbSNP:143719170
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
899+a, gdbSNP:2682091
904+c, tdbSNP:2634197
914+c, tdbSNP:149476159
915+a, gdbSNP:120074122
927+a, g, tdbSNP:200763423
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
1057+a, gdbSNP:1803161
1065+a, cdbSNP:120074128
1072+c, tdbSNP:35824453
1075+c, tdbSNP:150815128
1086+c, tdbSNP:2723669
1094+a, gdbSNP:201134693
1096+c, tdbSNP:120074124
1098+a, gdbSNP:199873765
1122+c, tdbSNP:149991096
1123+c, gdbSNP:147689496
1138+a, tdbSNP:12575136
1156+c, tdbSNP:1050233
1176+c, tdbSNP:142476839
1180+c, gdbSNP:202081954
1191+a, gdbSNP:281860667
1207+a, gdbSNP:200242334
1211+g, tdbSNP:281860668
1239+g, tdbSNP:201550531
1241+g, tdbSNP:144408432
1256+c, tdbSNP:72896268
1267+a, gdbSNP:148892841
1329+dbSNP:
1329+c, tdbSNP:281860666
1337+a, gdbSNP:120074121
1339+a, gdbSNP:120074123
1362+g, tdbSNP:120074125
1411+g, tdbSNP:200838486
1418+c, tdbSNP:34555120
1452+dbSNP:
1452+c, tdbSNP:120074126
1471+c, tdbSNP:281860669
1473+c, g, tdbSNP:140688153
1494+c, tdbSNP:281860670
1497..1498+, gctggadbSNP:281860674
1499+a, cdbSNP:267607073
1512+c, g, tdbSNP:120074127
1534+dbSNP:
1534+a, gdbSNP:201953350
1536+a, cdbSNP:281865156
1545+g, tdbSNP:144624998
1567+a, cdbSNP:281860673
1591+a, cdbSNP:267607074
1611+c, tdbSNP:182812968
1616+a, gdbSNP:138588535
1636+a, c, tdbSNP:267607075
1643+g, tdbSNP:281860665
1645+c, tdbSNP:141641266
1659+a, gdbSNP:144873307
1678+dbSNP:
1678+g, tdbSNP:120074117
1679+g, tdbSNP:138900569
1682..1683+ac, gtdbSNP:281860675
1706+c, tdbSNP:149423664
1707+a, gdbSNP:1050239
1714+c, tdbSNP:200652683
1719+a, gdbSNP:140806787
1735+a, tdbSNP:142787001
1746+c, tdbSNP:147258619
1772+a, gdbSNP:140770832
1774+c, gdbSNP:35122256
1783+c, tdbSNP:199915216
1810+a, gdbSNP:113467489
1817+c, tdbSNP:201659696
1856+c, gdbSNP:140271880
1860+a, g, tdbSNP:149939736
1878+a, gdbSNP:201127799
1893+a, gdbSNP:35475253
1920+a, gdbSNP:120074119
1925+c, tdbSNP:145079534
1929+c, tdbSNP:202192013
1934+c, tdbSNP:35098198
1948+a, gdbSNP:35785620
1957+a, gdbSNP:189116118
1967+c, tdbSNP:200974033
1980+a, cdbSNP:138531908
2013..2015+, cgcdbSNP:120074118
2014+a, gdbSNP:140269316
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
Gene SymbolSMPD1
Gene SynonymASM; ASMASE; NPD
Chromosome11
Locus Map11p15.4-p15.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000543 Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA. Full Length $719.78
ORF Sequence $549.84
NM_001007593 Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 2, mRNA. Full Length $718.91
ORF Sequence $548.97
Title The role of acid sphingomyelinase and caspase 5 in hypoxia-induced HuR cleavage and subsequent apoptosis in hepatocytes .
Author Zhu,Q., Lin,L., Cheng,Q., Xu,Q., Zhang,J., Tomlinson,S., Jin,J., Chen,X. and He,S.
Journal Biochim. Biophys. Acta 1821 (12), 1453-1461 (2012)
Title Accumulated bending energy elicits neutral sphingomyelinase activity in human red blood cells .
Author Lopez,D.J., Egido-Gabas,M., Lopez-Montero,I., Busto,J.V., Casas,J., Garnier,M., Monroy,F., Larijani,B., Goni,F.M. and Alonso,A.
Journal Biophys. J. 102 (9), 2077-2085 (2012)
Title c-Abl is an upstream regulator of acid sphingomyelinase in apoptosis induced by inhibition of integrins alphavbeta3 and alphavbeta5 .
Author Ren,X., Xu,J., Cooper,J.P., Kang,M.H. and Erdreich-Epstein,A.
Journal PLoS ONE 7 (8), E42291 (2012)
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 and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients .
Author Levran,O., Desnick,R.J. and Schuchman,E.H.
Journal Blood 80 (8), 2081-2087 (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,R.J., Takada,G. and Schuchman,E.H.
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,E.H., Suchi,M., Takahashi,T., Sandhoff,K. and Desnick,R.J.
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,R.J. and Schuchman,E.H.
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,R.J., Adler,D.A., Disteche,C.M. and Schuchman,E.H.
Journal Genomics 9 (2), 229-234 (1991)
Title Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts .
Author Quintern,L.E., Schuchman,E.H., Levran,O., Suchi,M., Ferlinz,K., Reinke,H., Sandhoff,K. and Desnick,R.J.
Journal EMBO J. 8 (9), 2469-2473 (1989)

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