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Tbio
SMPD1
Sphingomyelin phosphodiesterase

Protein Summary
Description
Converts sphingomyelin to ceramide (PubMed:1840600, PubMed:18815062, PubMed:27659707, PubMed:25920558). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity. Isoform 3 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000342245
  • ENSP00000340409
  • ENSG00000166311
  • ENST00000527275
  • ENSP00000435350

Symbol
  • ASM
  • ASM
  • NPD
  • ASMASE
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
cellular component
0.92
biological process
0.91
disease perturbation
0.87
histone modification site profile
0.82
protein domain
0.73


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1119.84   (req: < 5)
Gene RIFs: 105   (req: <= 3)
Antibodies: 266   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1119.84   (req: >= 5)
Gene RIFs: 105   (req: > 3)
Antibodies: 266   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 16
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Data Bank (4)
1 – 4 of 4
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (51)
Glycosphingolipid metabolism (R-HSA-1660662)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Glycosphingolipid metabolism
Reactome
Metabolism
Reactome
Metabolism of lipids
Reactome
Sphingolipid metabolism
Name
Explore in Pharos
Explore in Source
Glycosphingolipid metabolism
Metabolism
Metabolism of lipids
Sphingolipid metabolism
Gene Ontology Terms (23)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (125)
1 – 10 of 125
INSL5
Tbio
Novelty: 0.03673832
p_int: 0.948241025
p_ni: 0.001164289
p_wrong: 0.050594686
Data Source: BioPlex
CANX
Tbio
Novelty: 0.00135361
p_int: 0.865829774
p_ni: 0.134170226
Score: 0.234
Data Source: BioPlex,STRINGDB
CNTNAP3B
Tdark
Novelty: 0.3692932
p_int: 0.836550496
p_ni: 0.16120928
p_wrong: 0.002240223
Score: 0.259
Data Source: BioPlex,STRINGDB
SEL1L
Tbio
Novelty: 0.01113296
p_int: 0.779177263
p_ni: 0.220822737
Score: 0.226
Data Source: BioPlex,STRINGDB
SMPD2
Tchem
Family: Enzyme
Novelty: 0.00474009
Score: 0.979
Data Source: STRINGDB
UGCG
Tclin
Family: Enzyme
Novelty: 0.00632743
Score: 0.971
Data Source: STRINGDB
SGMS2
Tchem
Family: Enzyme
Novelty: 0.02941385
Score: 0.97
Data Source: STRINGDB
CERK
Tchem
Family: Kinase
Novelty: 0.01314187
Score: 0.966
Data Source: STRINGDB
SGMS1
Tchem
Family: Enzyme
Novelty: 0.02224594
Score: 0.96
Data Source: STRINGDB
GALC
Tbio
Family: Enzyme
Novelty: 0.00289873
Score: 0.955
Data Source: STRINGDB
Publication Statistics
PubMed Score  1119.84

PubMed score by year
PubTator Score  437.03

PubTator score by year
Amino Acid Sequence
Residue Counts
Sequence
MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAEAHPLSPQGHP
1-70
ARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLF
70-140
EDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLH
140-210
WDHDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGD
210-280
IPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKA
280-350
WEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGD
350-420
KVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTY
420-490
IGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVY
490-560
RMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLF
560-630
C
630-631
MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLFC