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 1 - 10 of 176 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0040085 bacterial sepsis
DOID:0050424 familial adenomatous polyposis
DOID:0050589 inflammatory bowel disease
DOID:0050635 alternating hemiplegia of childhood
DOID:0050741 alcohol dependence
DOID:0050771 pheochromocytoma
DOID:0060180 colitis
DOID:0060189 ileitis
DOID:0060190 ileocolitis
The Human Phenotype Ontology
Displaying entries 21 - 30 of 85 in total
HPO ID HPO Term
HP:0001317 Abnormal cerebellum morphology
HP:0001324 Muscle weakness
HP:0001328 Specific learning disability
HP:0001394 Cirrhosis
HP:0001399 Hepatic failure
HP:0001410 Decreased liver function
HP:0001508 Failure to thrive
HP:0001538 Protuberant abdomen
HP:0001541 Ascites
HP:0001654 Abnormal heart valve morphology
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