AlphaFold predicted structure
SMPD1 · P17405
Mean pLDDT
88.0/ 100
Confident
631 residues
Confidence breakdown
- Very high(≥ 90)83%
- Confident(70–90)1%
- Low(50–70)4%
- Very low(< 50)13%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
SMPD1
Chr 11p15.4sphingomyelin phosphodiesterase 1
- Aliases:
- ASM
- MANE:
- ENST00000342245.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Cholestasis
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFamilial pulmonary fibrosis
BIALLELIC, autosomal or pseudoautosomalFetal hydrops
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalLysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomalNeonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Niemann-Pick disease type A
0.86Niemann-Pick disease type B
0.85Niemann-Pick disease
0.67acid sphingomyelinase deficiency
0.61lysosomal storage disease
0.58Parkinson disease
0.55Alzheimer disease
0.55neurodegenerative disease
0.53multiple sclerosis
0.52hereditary disease
0.47
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Sphingomyelin phosphodiesterase
Converts sphingomyelin to ceramide (PubMed:12563314, PubMed:1840600, PubMed:18815062, PubMed:25339683, PubMed:25920558, PubMed:27659707, PubMed:33163980). Exists as two enzymatic forms that arise from alternative trafficking of a single protein precursor, one that is targeted to the endolysosomal compartment, whereas the other is released extracellularly (PubMed:20807762, PubMed:21098024, PubMed:9660788). However, in response to various forms of stress, lysosomal exocytosis may represent a major source of the secretory form (PubMed:12563314, PubMed:20530211, PubMed:20807762, PubMed:22573858, PubMed:9393854)
Diseases associated with SMPD1
Curated MONDO disease pages that list SMPD1 among their top associated genes.