ADHDgene Database

Gene Report

Basic Info

Approved Symbol	SMPD1
Symbol Alias	ASM
Approved Name	sphingomyelin phosphodiesterase 1, acid lysosomal
Name Alias	acid sphingomyelinase
Location	11p15.4-p15.1
Position	chr11:6411644-6416228, +
External Links	HGNC: 11120 Entrez Gene: 6609 Ensembl: ENSG00000166311 UCSC: uc001mcw.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_29	chr11:5582423-7488751 (NCBI Build 36.1 (hg18))	1859865	11p15.4	Loss	De novo

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0016298	lipase activity	Molecular Function		49

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0046513	ceramide biosynthetic process	Biological Process	IMP[19279011]	3
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0043065	positive regulation of apoptotic process	Biological Process		34
GO:0042599	lamellar body	Cellular Component		1
GO:0043407	negative regulation of MAP kinase activity	Biological Process	IMP[19279008]	7
GO:0043202	lysosomal lumen	Cellular Component		10
GO:0042220	response to cocaine	Biological Process		11
GO:0042493	response to drug	Biological Process		68
GO:0023021	termination of signal transduction	Biological Process	IMP[19279008]	1
GO:0035307	positive regulation of protein dephosphorylation	Biological Process	IMP[19279008]	2
GO:0016798	hydrolase activity, acting on glycosyl bonds	Molecular Function		2
GO:0007399	nervous system development	Biological Process	TAS[7670466]	54
GO:0008219	cell death	Biological Process		33
GO:0006687	glycosphingolipid metabolic process	Biological Process		9
GO:0007165	signal transduction	Biological Process	TAS[7670466]	171
GO:0006684	sphingomyelin metabolic process	Biological Process	TAS[7670466]	3
GO:0006685	sphingomyelin catabolic process	Biological Process		3
GO:0006644	phospholipid metabolic process	Biological Process		59
GO:0006665	sphingolipid metabolic process	Biological Process		16
GO:0004767	sphingomyelin phosphodiesterase activity	Molecular Function		5
GO:0005615	extracellular space	Cellular Component		126

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00600	Sphingolipid metabolism	10
hsa01100	Metabolic pathways	237
hsa04142	Lysosome	19	Lysosomes are membrane-delimited organelles in animal cells ...... Lysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than 40 hydrolases in an acidic environment (pH of about 5). After synthesis in the ER, lysosomal enzymes are decorated with mannose-6-phosphate residues, which are recognized by mannose-6-phosphate receptors in the trans-Golgi network. They are packaged into clathrin-coated vesicles and are transported to late endosomes. Substances for digestion are acquired by the lysosomes via a series of processes including endocytosis, phagocytosis, and autophagy. More...

Genes shared at least 5 GO terms with SMPD1 (count: 5)

Gene Symbol	Pathway Count	Pathway List
SMPD2	8	ceramide biosynthetic process; small molecule metabolic process; lipase activity; glycosphingolipid metabolic process; sphingomyelin metabolic process; phospholipid metabolic process; sphingolipid metabolic process; sphingomyelin phosphodiesterase activity;
SMPD4	8	ceramide biosynthetic process; small molecule metabolic process; lipase activity; glycosphingolipid metabolic process; sphingomyelin catabolic process; phospholipid metabolic process; sphingolipid metabolic process; sphingomyelin phosphodiesterase activity;
ENPP7	7	small molecule metabolic process; lipase activity; glycosphingolipid metabolic process; sphingomyelin metabolic process; phospholipid metabolic process; sphingolipid metabolic process; sphingomyelin phosphodiesterase activity;
LPL	5	small molecule metabolic process; response to drug; lipase activity; phospholipid metabolic process; extracellular space;
PLA2G1B	5	small molecule metabolic process; lipase activity; signal transduction; phospholipid metabolic process; extracellular space;

Genes shared at least 2 KEGG pathways with SMPD1 (count: 11)

Gene Symbol	Pathway Count	Pathway List
B4GALT6	2	Sphingolipid metabolism; Metabolic pathways;
ENPP7	2	Sphingolipid metabolism; Metabolic pathways;
SMPD2	2	Sphingolipid metabolism; Metabolic pathways;
SMPD4	2	Sphingolipid metabolism; Metabolic pathways;
SPTLC1	2	Sphingolipid metabolism; Metabolic pathways;
SPTLC3	2	Sphingolipid metabolism; Metabolic pathways;
UGCG	2	Sphingolipid metabolism; Metabolic pathways;
ATP6V0A2	2	Metabolic pathways; Lysosome;
ATP6V0D2	2	Metabolic pathways; Lysosome;
GALNS	2	Metabolic pathways; Lysosome;
TCIRG1	2	Metabolic pathways; Lysosome;

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Region: chr11:6411644..6416228 View in gBrowse