SMPD1 gene homepage

General information
Gene symbol SMPD1
Gene name sphingomyelin phosphodiesterase 1, acid lysosomal
Chromosome 11
Chromosomal band p15.4-p15.1
Imprinted Unknown
Genomic reference NG_011780.1
Transcript reference NM_000543.3
Associated with diseases ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 229
Unique public DNA variants reported 147
Individuals with public variants 250
Hidden variants 22
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated September 15, 2020
Version SMPD1:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
HGNC 11120
Entrez Gene 6609
PubMed articles SMPD1
OMIM - Gene 607608
OMIM - Diseases Niemann-Pick disease, type A
Niemann-Pick disease, type B
GeneCards SMPD1
GeneTests SMPD1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000036 11 sphingomyelin phosphodiesterase 1, acid lysosomal, transcript variant 1 (expired, new version available) NM_000543.3 NP_000534.3 229

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.