SMPD1, sphingomyelin phosphodiesterase 1

SMPD1, sphingomyelin phosphodiesterase 1

• 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 disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

• Gene Synonyms (sphingomyelin phosphodiesterase, acid sphingomyelinase, sphingomyelin phosphodiesterase 1, acid lysosomal, ASM, ASMASE, NPD,)
• NCBI Gene ID: 6609
• Species: Homo sapiens (Human)
• UNIPROT ID#>>E9LUE8
  UNIPROT ID#>>P17405
  UNIPROT ID#>>Q59EN6
  UNIPROT ID#>>E9LUE9
  UNIPROT ID#>>Q8IUN0
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

sphingomyelin phosphodiesterase 1 interacts with:

• ALG11 alpha-1,2-mannosyltransferase
  brain expressed X-linked 3
  contactin associated protein family member 3B
  dual specificity phosphatase 23
  insulin like 5
  nuclear receptor subfamily 1 group H member 2
  OS9 endoplasmic reticulum lectin
  solute carrier family 27 member 2

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.