SMPD1 ELISA Kit for Human(Homo sapiens) | EIAab.comSMPD1 ELISA Kit for Human(Homo sapiens)

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SMPD1 (Gene name),

Sphingomyelin phosphodiesterase (Protein name ), ASM_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

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Gene name:

SMPD1(ASM);

Protein name:

Sphingomyelin phosphodiesterase;

Alternative:

Acid sphingomyelinase(aSMase);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Monomer.

Function:

Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity.

Subcellular Location:

Lysosome

Protein Attributes:

Sequence length:

629

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

629:

ADSPALCRHL | MPDGSLPEAQ | SLWPRPLFC

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

KEGG:

hsa:6609

String:

P17405

UniGene:

Hs.498173

MIM:

257200

Pfam:

PF00149

STRING:

9606.ENSP00000340409

SMR:

P17405

Uniprot:

P17405

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ELISA Kit for Human Sphingomyelin phosphodiesterase

Cat.:

E1360h

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96T

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ELISA Kit for Human Sphingomyelin phosphodiesterase

Cat.:

E1360m

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96T

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ELISA Kit for Human Sphingomyelin phosphodiesterase

Cat.:

E1360b

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Packing:

96T

CLIA Kit for Human Sphingomyelin phosphodiesterase

Cat.:

U1360m

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Packing:

96T

CLIA Kit for Human Sphingomyelin phosphodiesterase

Cat.:

U1360h

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Manual:

Looking for manual.

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96T

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CLIA Kit for Human Sphingomyelin phosphodiesterase

Cat.:

U1360b

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96T

Polyclonal Antibody for Human Sphingomyelin phosphodiesterase

Cat.:

P1360Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Sphingomyelin phosphodiesterase

Cat.:

P1360Rb-m

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Packing:

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Polyclonal Antibody for Human Sphingomyelin phosphodiesterase

Monoclonal Antibody for Human Sphingomyelin phosphodiesterase

Protein for Human Sphingomyelin phosphodiesterase

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

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Linearity

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References

1.

"A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate."
Sperl W. , Bart G. , Vanier M.T. , Christomanou H. , Baldissera I. , Steichensdorf E. , Paschke E.
J. Inherit. Metab. Dis.17:93-103(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDB GLY-391
2.

"Two new mutations in the acid sphingomyelinase gene causing type A Niemann-pick disease: N389T and R441X."
Schuchman E.H.
Hum. Mutat.6:352-354(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA THR-389
3.

"Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease."
Takahashi T. , Suchi M. , Sato W. , Ten S.B. , Sakuragawa N. , Desnick R.J. , Schuchman E.H. , Takada G.
Tohoku J. Exp. Med.177:117-123(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA CYS-446
4.

"Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B."
Ida H. , Rennert O.M. , Maekawa K. , Eto Y.
Hum. Mutat.7:65-67(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDB GLN-246
5.

"Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency."
Pavluu H. , Elleder M.
J. Inherit. Metab. Dis.20:615-616(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA/NPDB LYS-292 AND PRO-341
6.

"The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations."
Simonaro C.M. , Desnick R.J. , McGovern M.M. , Wasserstein M.P. , Schuchman E.H.
Am. J. Hum. Genet.71:1413-1419(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDB VAL-49; TRP-92; PRO-137; ARG-157; PRO-196; CYS-200; MET-225; CYS-228; ASP-232; SER-245; ARG-248; HIS-289; ALA-323; ARG-330; ASP-357; HIS-376; LEU-376; PRO-379; VAL-413; TYR-421; ARG-431; PRO-432; CYS-435; VAL-452; ASP-456; TRP-474; LEU-475; LEU-480; VAL-485; ASN-488; SER-494; CYS-496; GLN-514; VAL-515; ARG-533; PRO-549; ASN-576; HIS-600 AND PRO-600
7.

"Seven novel Acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients."
Sikora J. , Pavluu-Pereira H. , Elleder M. , Roelofs H. , Wevers R.A.
Ann. Hum. Genet.67:63-70(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA ARG-248; TYR-319; SER-463; LEU-475 AND HIS-537;VARIANTS NPDB SER-371 AND ARG-608 DEL
8.

"Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1."
Ricci V. , Stroppiano M. , Corsolini F. , Di Rocco M. , Parenti G. , Regis S. , Grossi S. , Biancheri R. , Mazzotti R. , Filocamo M.
Hum. Mutat.24:105-105(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA PRO-103; SER-245; LYS-246; GLN-294; HIS-313; PRO-450; LEU-475; LEU-496; HIS-496 AND CYS-517
9.

"Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon."
Pittis M.G. , Ricci V. , Guerci V.I. , Marcais C. , Ciana G. , Dardis A. , Gerin F. , Stroppiano M. , Vanier M.T. , Filocamo M. , Bembi B.
Hum. Mutat.24:186-187(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDB PRO-103; PRO-225; CYS-244; THR-281; LYS-292 AND ILE-382
10.

"Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick type B disease."
Dardis A. , Zampieri S. , Filocamo M. , Burlina A. , Bembi B. , Pittis M.G.
Hum. Mutat.26:164-164(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDB ALA-130 AND TYR-563;CHARACTERIZATION OF VARIANTS NPDB PRO-103; ALA-130; PRO-225; CYS-244; THR-281; TYR-563; HIS-600 AND PRO-600
11.

"Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study."
Pavluu-Pereira H. , Asfaw B. , Poupctova H. , Ledvinova J. , Sikora J. , Vanier M.T. , Sandhoff K. , Zeman J. , Novotna Z. , Chudoba D. , Elleder M.
J. Inherit. Metab. Dis.28:203-227(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA/NPDB ARG-166; LEU-184; HIS-228; VAL-241; ARG-248; GLU-251; ALA-278; HIS-289; LYS-292; PRO-341; HIS-376; TRP-474; ARG-533 AND SER-577;VARIANT ARG-506
12.

"Clinical findings in Niemann-Pick disease type B."
Muessig K. , Harzer K. , Mayrhofer H. , Kraegeloh-Mann I. , Haering H.-U. , Machicao F.
Intern. Med. J.36:135-136(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDB ARG-166 AND ASN-176;VARIANT GLY-505
13.

"A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease."
Lan M.Y. , Lin S.J. , Chen Y.F. , Peng C.H. , Liu Y.F.
Ann. Hematol.88:695-697(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDB ARG-330 AND ASP-451
14.

"Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients."
Rodriguez-Pascau L. , Gort L. , Schuchman E.H. , Vilageliu L. , Grinberg D. , Chabas A.
Hum. Mutat.30:1117-1122(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA SER-245; CYS-367; PHE-390 DEL; ARG-421; SER-467; GLU-482 AND THR-592 DEL;VARIANTS NPDB CYS-228; HIS-376; TRP-474; ALA-486 AND ARG-608 DEL
15.

"Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease."
Desnick J.P. , Kim J. , He X. , Wasserstein M.P. , Simonaro C.M. , Schuchman E.H.
Mol. Med.16:316-321(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA ARG-209 AND HIS-251;VARIANTS NPDB MET-312; ARG-425 AND HIS-523;CHARACTERIZATION OF VARIANTS NPDA ARG-209 AND HIS-251;CHARACTERIZATION OF VARIANTS NPDB MET-312; ARG-425 AND HIS-523
16.

"A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease."
Hua R. , Wu H. , Cui Z. , Chen J.X. , Wang Z.
Chin. Med. J.125:1511-1512(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDB SER-520
17.

"Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs."
Schuchman E.H. , Suchi M. , Takahashi T. , Sandhoff K. , Desnick R.J.
J. Biol. Chem.266:8531-8539(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];ALTERNATIVE SPLICING;VARIANTS ILE-322 AND ARG-506
18.

"Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene."
Newrzella D. , Stoffel W.
Biol. Chem. Hoppe-Seyler373:1233-1238(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT ARG-506
19.

"Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)."
Schuchman E.H. , Levran O. , Pereira L.V. , Desnick R.J.
Genomics12:197-205(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT ALA-36
20.

"Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive."
Ida H. , Rennert O.M. , Eto Y. , Chan W.Y.
J. Biochem.114:15-20(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT ARG-157
21.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4);VARIANT ARG-506
tissue: Testis.
22.

"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D. , Noguchi H. , Totoki Y. , Toyoda A. , Kuroki Y. , Dewar K. , Lloyd C. , Itoh T. , Takeda T. , Kim D.-W. , She X. , Barlow K.F. , Bloom T. , Bruford E. , Chang J.L. , Cuomo C.A. , Eichler E. , FitzGerald M.G. , more...
Nature440:497-500(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
23.

"Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts."
Quintern L.E. , Schuchman E.H. , Levran O. , Suchi M. , Ferlinz K. , Reinke H. , Sandhoff K. , Desnick R.J.
EMBO J.8:2469-2473(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 128-629;PARTIAL PROTEIN SEQUENCE;ALTERNATIVE SPLICING;VARIANTS ILE-322 AND ARG-506
tissue: Fibroblast.
24.

"Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis."
Ferlinz K. , Hurwitz R. , Moczall H. , Lansmann S. , Schuchman E.H. , Sandhoff K.
Eur. J. Biochem.243:511-517(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION AT ASN-86; ASN-175; ASN-335; ASN-395 AND ASN-520
25.

"Human acid sphingomyelinase."
Lansmann S. , Schuette C.G. , Bartelsen O. , Hoernschemeyer J. , Linke T. , Weisgerber J. , Sandhoff K.
Eur. J. Biochem.270:1076-1088(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: DISULFIDE BONDS
26.

"Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol."
Dastani Z. , Ruel I.L. , Engert J.C. , Genest J. Jr. , Marcil M.
BMC Med. Genet.8:79-79(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: POLYMORPHISM
27.

"Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A."
Ferlinz K. , Hurwitz R. , Sandhoff K.
Biochem. Biophys. Res. Commun.179:1187-1191(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA SER-577
28.

"Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients."
Levran O. , Desnick R.J. , Schuchman E.H.
Proc. Natl. Acad. Sci. U.S.A.88:3748-3752(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA LEU-496
29.

"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."
Levran O. , Desnick R.J. , Schuchman E.H.
J. Clin. Invest.88:806-810(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDB ARG-608 DEL
30.

"Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients."
Levran O. , Desnick R.J. , Schuchman E.H.
Blood80:2081-2087(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA PRO-302
31.

"Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease."
Takahashi T. , Desnick R.J. , Takada G. , Schuchman E.H.
Hum. Mutat.1:70-71(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDB ARG-436
32.

"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."
Takahashi T. , Suchi M. , Desnick R.J. , Takada G. , Schuchman E.H.
J. Biol. Chem.267:12552-12558(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA ILE-382;VARIANTS NPDB ARG-242 AND SER-383

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