Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.
| RefSeq Version | NM_000543.4, 300795568 |
| Length | 2482 bp |
| Structure | linear |
| Update Date | 17-APR-2011 |
| 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]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). |
| RefSeq | NP_000534.3 |
| CDS | 186..2081 | Exon (1) | 1..503 | Exon (2) | 1..503 | Exon (3) | 504..1276 | Exon (4) | 1277..1448 | Exon (5) | 1449..1525 | Exon (6) | 1526..1671 | Exon (7) | 1672..2472 |
| Translation | MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAE
AHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIK
LCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISL
PTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASR
PGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTT
VTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEAL
RTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGD
KVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAV
AFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYR
ARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLS
ARADSPALCRHLMPDGSLPEAQSLWPRPLFC
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| Position | Chain | Variation | Link |
| 915 | + | a, g | dbSNP:120074122 |
| 973 | + | a, t | dbSNP:120074120 |
| 1065 | + | a, c | dbSNP:120074128 |
| 1096 | + | c, t | dbSNP:120074124 |
| 1337 | + | a, g | dbSNP:120074121 |
| 1339 | + | a, g | dbSNP:120074123 |
| 1362 | + | g, t | dbSNP:120074125 |
| 1452 | + | c, t | dbSNP:120074126 |
| 1512 | + | c, t | dbSNP:120074127 |
| 1678 | + | g, t | dbSNP:120074117 |
| 1920 | + | a, g | dbSNP:120074119 |
| 2013..2015 | + | , cgc | dbSNP:120074118 |
| Gene Symbol | SMPD1 |
| Gene Synonym | ASM; ASMASE; NPD |
| Chromosome | 11 |
| Locus Map | 11p15.4-p15.1 |
| All Transcripts | NM_000543 , NM_001007593 |
| Title | A novel mechanism of lysosomal acid sphingomyelinase maturation: requirement for carboxyl-terminal proteolytic processing . |
| Author | Jenkins,R.W., Idkowiak-Baldys,J., Simbari,F., Canals,D., Roddy,P., Riner,C.D., Clarke,C.J. and Hannun,Y.A. |
| Journal | J. Biol. Chem. 286 (5), 3777-3788 (2011) |
| Title | Compartmentalization of TNF-receptor 1 signaling: TNF-R1-associated caspase-8 mediates activation of acid sphingomyelinase in late endosomes . |
| Author | Bertsch,U., Edelmann,B., Tchikov,V., Winoto-Morbach,S. and Schutze,S. |
| Journal | Adv. Exp. Med. Biol. 691, 605-616 (2011) |
| Title | Syntaxin 4 is required for acid sphingomyelinase activity and apoptotic function . |
| Author | Perrotta,C., Bizzozero,L., Cazzato,D., Morlacchi,S., Assi,E., Simbari,F., Zhang,Y., Gulbins,E., Bassi,M.T., Rosa,P. and Clementi,E. |
| Journal | J. Biol. Chem. 285 (51), 40240-40251 (2010) |
| 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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