• Gene id: 6609

Gene Summary

• Gene Symbol: SMPD1   Gene   UCSC   Ensembl
• Aliases: ASM, ASMASE, NPD
• Gene name: sphingomyelin phosphodiesterase 1
• Alternate names: sphingomyelin phosphodiesterase, acid sphingomyelinase, sphingomyelin phosphodiesterase 1, acid lysosomal,
• Gene location: 11p15.4 (6390473: 6394997)     Exons: 5     NC_000011.10
• Gene summary(Entrez): 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 di
• OMIM: 607608

Protein Summary

• Protein general information: P17405  
  • Name: Sphingomyelin phosphodiesterase (EC 3.1.4.12) (Acid sphingomyelinase) (aSMase)
  • Length: 631  
  • Mass: 69936
• Sequence:

  MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAEAHPLSPQGHPARLHR
  IVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRR
  SVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCAD
  PLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTT
  VTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYP
  GLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYEN
  TLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQ
  ANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLS
  ARADSPALCRHLMPDGSLPEAQSLWPRPLFC

• Structural information:
  • Protein Domains: (87..17-)
    (/note="Saposin-B-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00415"-)
  • Interpro: IPR041805  IPR004843  IPR029052  IPR011001  IPR008139   IPR011160  
  • Prosite: PS50015
  • CDD: cd00842
  • PDB: 5I81 5I85 5I8R 5JG8
  • PDBsum: 5I81 5I85 5I8R 5JG8
  • STRING: ENSP00000340409
• Other Databases: GeneCards:  SMPD1  Malacards:  SMPD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061750	acid sphingomyelin phosphodiesterase activity	IBA	molecular function
GO:0008081	phosphoric diester hydrolase activity	IBA	molecular function
GO:0006685	sphingomyelin catabolic process	IBA	biological process
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0005764	lysosome	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0004767	sphingomyelin phosphodiesterase activity	IBA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0061750	acid sphingomyelin phosphodiesterase activity	IDA	molecular function
GO:0006685	sphingomyelin catabolic process	IDA	biological process
GO:0061750	acid sphingomyelin phosphodiesterase activity	IDA	molecular function
GO:0004767	sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006685	sphingomyelin catabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0004767	sphingomyelin phosphodiesterase activity	TAS	molecular function
GO:0006684	sphingomyelin metabolic process	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0004767	sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0004767	sphingomyelin phosphodiesterase activity	TAS	molecular function
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0061750	acid sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006685	sphingomyelin catabolic process	IEA	biological process
GO:0006672	ceramide metabolic process	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0042599	lamellar body	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0042220	response to cocaine	IEA	biological process
GO:0046513	ceramide biosynthetic process	IMP	biological process
GO:0023021	termination of signal transduction	IMP	biological process
GO:0035307	positive regulation of protein dephosphorylation	IMP	biological process
GO:0043407	negative regulation of MAP kinase activity	IMP	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04217	Necroptosis
hsa04142	Lysosome
hsa04071	Sphingolipid signaling pathway
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Sphingolipidosis	KEGG:H00423
Niemann-Pick disease type A/B	KEGG:H00137
Sphingolipidosis	KEGG:H00423
Niemann-Pick disease type A/B	KEGG:H00137
Defects in the degradation of sphingomyelin	KEGG:H00424
Niemann-Pick disease	PMID:12556236
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R