• Gene id: 27293

Gene Summary

• Gene Symbol: SMPDL3B   Gene   UCSC   Ensembl
• Aliases: ASML3B
• Gene name: sphingomyelin phosphodiesterase acid like 3B
• Alternate names: acid sphingomyelinase-like phosphodiesterase 3b, ASM-like phosphodiesterase 3b,
• Gene location: 1p35.3 (27934954: 27959151)     Exons: 10     NC_000001.11
• OMIM: 604383

Protein Summary

• Protein general information: Q92485  
  • Name: Acid sphingomyelinase like phosphodiesterase 3b (ASM like phosphodiesterase 3b) (EC 3.1.4. )
  • Length: 455  
  • Mass: 50814
• Sequence:

  MRLLAWLIFLANWGGARAEPGKFWHIADLHLDPDYKVSKDPFQVCPSAGSQPVPDAGPWGDYLCDSPWALINSSI
  YAMKEIEPEPDFILWTGDDTPHVPDEKLGEAAVLEIVERLTKLIREVFPDTKVYAALGNHDFHPKNQFPAGSNNI
  YNQIAELWKPWLSNESIALFKKGAFYCEKLPGPSGAGRIVVLNTNLYYTSNALTADMADPGQQFQWLEDVLTDAS
  KAGDMVYIVGHVPPGFFEKTQNKAWFREGFNEKYLKVVRKHHRVIAGQFFGHHHTDSFRMLYDDAGVPISAMFIT
  PGVTPWKTTLPGVVNGANNPAIRVFEYDRATLSLKDMVTYFMNLSQANAQGTPRWELEYQLTEAYGVPDASAHSM
  HTVLDRIAGDQSTLQRYYVYNSVSYSAGVCDEACSMQHVCAMRQVDIDAYTTCLYASGTTPVPQLPLLLMALLGL
  CTLVL

• Structural information:
  • Interpro: IPR017064  IPR041805  IPR004843  IPR029052  
  • CDD: cd00842
  • STRING: ENSP00000363001
• Other Databases: GeneCards:  SMPDL3B  Malacards:  SMPDL3B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0008081	phosphoric diester hydrolase activity	IBA	molecular function
GO:0046466	membrane lipid catabolic process	ISS	biological process
GO:0008270	zinc ion binding	ISS	molecular function
GO:0005886	plasma membrane	ISS	cellular component
GO:0050728	negative regulation of inflammatory response	ISS	biological process
GO:0034122	negative regulation of toll-like receptor signaling pathway	ISS	biological process
GO:0008081	phosphoric diester hydrolase activity	IMP	molecular function
GO:0008081	phosphoric diester hydrolase activity	ISS	molecular function
GO:0004767	sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006685	sphingomyelin catabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046466	membrane lipid catabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0034122	negative regulation of toll-like receptor signaling pathway	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0008081	phosphoric diester hydrolase activity	IBA	molecular function
GO:0046466	membrane lipid catabolic process	ISS	biological process
GO:0008270	zinc ion binding	ISS	molecular function
GO:0005886	plasma membrane	ISS	cellular component
GO:0050728	negative regulation of inflammatory response	ISS	biological process
GO:0034122	negative regulation of toll-like receptor signaling pathway	ISS	biological process
GO:0008081	phosphoric diester hydrolase activity	IMP	molecular function
GO:0008081	phosphoric diester hydrolase activity	ISS	molecular function
GO:0004767	sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006685	sphingomyelin catabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046466	membrane lipid catabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0034122	negative regulation of toll-like receptor signaling pathway	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq