SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal)

Identity

Other names	ASM
	NPD
HGNC	SMPD1
Location	11p15.4-p15.1
Location_base_pair	Starts at 6368231 and ends at 6372802 bp from pter ( according to hg18-March_2006).
Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

External links

	Nomenclature
HGNC	SMPD1   11120
Entrez_Gene	SMPD1  6609  sphingomyelin phosphodiesterase 1, acid lysosomal
	Cards
GeneCards	SMPD1
Ensembl	ENSG00000166311 [Gene_View]  SMPD1 [Vega]
Genatlas	SMPD1
	Genomic and cartography
GoldenPath	SMPD1  -     chr11:6368231-6372802 +  11p15.4   [Description]    (hg18-March_2006)
Ensembl	SMPD1 - 11p15.4 [CytoView]
NCBI	Mapview
OMIM	257200 Disease map [OMIM]
OMIM	607608 Disease map [OMIM]
OMIM	607616 Disease map [OMIM]
HomoloGene	SMPD1
	Gene and transcription
Genbank	AB209775 [ ENTREZ ]
Genbank	AK292388 [ ENTREZ ]
Genbank	AY649987 [ ENTREZ ]
Genbank	BC041164 [ ENTREZ ]
Genbank	BU845962 [ ENTREZ ]
RefSeq	NM_000543 [ SRS ]    NM_000543 [ ENTREZ ]
RefSeq	NM_001007593 [ SRS ]    NM_001007593 [ ENTREZ ]
RefSeq	AC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeq	AC_000143 [ SRS ]    AC_000143 [ ENTREZ ]
RefSeq	NC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeq	NT_009237 [ SRS ]    NT_009237 [ ENTREZ ]
RefSeq	NW_001838021 [ SRS ]    NW_001838021 [ ENTREZ ]
RefSeq	NW_925006 [ SRS ]    NW_925006 [ ENTREZ ]
CCDS	SMPD1 CCDS - NCBI
AceView	SMPD1 AceView - NCBI
Unigene	Hs.498173 [ SRS ]    Hs.498173 [ NCBI ]
Fast-db	1950 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P17405 [ SRS]    P17405 [ EXPASY ]     P17405 [ INTERPRO ]     P17405 [ UNIPROT ] P17405 [ VarSplice FASTA ]
Prosite	PS50015 SAP_B [ SRS ]    PS50015 SAP_B [ Expasy ]
Interpro	IPR004843 M-pesterase [ SRS ]    IPR004843 M-pesterase [ EBI ]
Interpro	IPR011001 Saposin_like [ SRS ]    IPR011001 Saposin_like [ EBI ]
Interpro	IPR008139 SaposinB [ SRS ]    IPR008139 SaposinB [ EBI ]
Interpro	IPR011160 Sphingomy_PDE [ SRS ]    IPR011160 Sphingomy_PDE [ EBI ]
CluSTr	P17405
Pfam	PF00149 Metallophos [ SRS ]    PF00149 Metallophos [ Sanger ]    pfam00149 [ NCBI-CDD ]
Smart	SM00741 SapB [EMBL]
Blocks	P17405
HPRD	06353
	Protein Interaction databases
DIP	P17405
IntAct	P17405
	Polymorphism : SNP, mutations, diseases
OMIM	257200    [ map ]
OMIM	607608    [ map ]
OMIM	607616    [ map ]
GENETests	257200
GENETests	607608
GENETests	607616
SNP	SMPD1 [dbSNP-NCBI]
SNP	NM_000543 [SNP-NCI]
SNP	NM_001007593 [SNP-NCI]
SNP	SMPD1 [GeneSNPs - Utah]  SMPD1] [HGBASE - SRS]
HAPMAP	SMPD1 [HAPMAP]
HGMD	SMPD1
Genetic Association	SMPD1
CDC HuGE	SMPD1
	General knowledge
Family Browser	SMPD1 [UCSC Family Browser]
SOURCE	NM_000543
SOURCE	NM_001007593
SMD	Hs.498173
SAGE	Hs.498173
Enzyme	3.1.4.12 [ Enzyme-Expasy ]   3.1.4.12 [ Enzyme-SRS ]   3.1.4.12 [ IntEnz-EBI ]   3.1.4.12 [ BRENDA ]   3.1.4.12 [ KEGG ]
GO	sphingomyelin phosphodiesterase activity [Amigo]  sphingomyelin phosphodiesterase activity
GO	lysosome [Amigo]  lysosome
GO	sphingomyelin catabolic process [Amigo]  sphingomyelin catabolic process
GO	signal transduction [Amigo]  signal transduction
GO	nervous system development [Amigo]  nervous system development
GO	metabolic process [Amigo]  metabolic process
GO	hydrolase activity, acting on glycosyl bonds [Amigo]  hydrolase activity, acting on glycosyl bonds
BIOCARTA	Ceramide Signaling Pathway    [Genes]
KEGG	Sphingolipid metabolism
PubGene	SMPD1
TreeFam	SMPD1
CTD	6609 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SMPD1 Related clones (RZPD - Berlin)
	PubMed
PubMed	53 Pubmed reference(s) in Entrez

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Thu Nov 27 14:12:47 2008