sphingomyelin phosphodiesterase 1

Summary
Gene Symbol
  • SMPD1
Aliases
  • ASM
  • Niemann-Pick type A/B
  • acid sphingomyelinase
Organism
Homo sapiens (human)
External Links
NCBI Gene
6609
HGNC
11120
KEGG Gene ID
hsa:6609
PubChem
6609
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Glycosidase
  • Host-virus interaction
  • Lipid droplet
  • Lipid metabolism
  • Lysosome
  • Metal-binding
  • Neurodegeneration
  • Niemann-Pick disease
  • Phosphoprotein
  • Reference proteome
  • Secreted
  • Signal
  • Transmembrane helix
  • Zinc
Proteins
Displaying all 5 entries
UniProt Protein Name
P17405
  • Acid sphingomyelinase
E9LUE9
E9LUE8
Q8IUN0
Q59EN6
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
KEGG BRITE Database
Orthology
K12350
Name
sphingomyelin phosphodiesterase [EC:3.1.4.12]
References
Disease
Disease Ontology
Displaying entries 171 - 176 of 176 in total
DO ID Disease Name Source
DOID:9538 multiple myeloma
DOID:9588 encephalitis
DOID:9649 congenital nystagmus
DOID:9650 pathologic nystagmus
DOID:9743 diabetic neuropathy
DOID:9970 obesity
The Human Phenotype Ontology
Displaying entries 1 - 10 of 85 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000256 Macrocephaly
HP:0000639 Nystagmus
HP:0000707 Abnormality of the nervous system
HP:0000708 Atypical behavior
HP:0000716 Depression
HP:0000737 Irritability
HP:0000823 Delayed puberty
HP:0000938 Osteopenia
HP:0000939 Osteoporosis
Displaying all 3 entries
Disease ID Disease Name
OMIM:607616
  • Niemann-Pick disease type B
ORPHA:77293
  • Niemann-Pick disease type B
OMIM:257200
  • Niemann-Pick disease type A
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002843
Gene Name
sphingomyelin phosphodiesterase 1, acid lysosomal

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024