SMPDL3A
Sphingomyelin Phosphodiesterase Acid Like 3A
Gene Information Card
| Symbol | SMPDL3A |
|---|---|
| Full Name | Sphingomyelin Phosphodiesterase Acid Like 3A |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 10924 ncbi.nlm.nih.gov/gene/10924 |
| Ensembl ID | ENSG00000112294 |
| UniProt ID | Q92484 |
| OMIM ID | 610222 |
| HGNC ID | 11121 |
| Aliases | ASM3A, ASM-like 3A, nSMase3 |
Description
SMPDL3A encodes a member of the acid sphingomyelinase family. The protein is involved in sphingolipid metabolism, specifically catalyzing the hydrolysis of sphingomyelin to ceramide and phosphocholine. It is expressed in kidney podocytes and plays a role in maintaining glomerular filtration barrier integrity. Mutations in SMPDL3A are associated with steroid-resistant nephrotic syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Steroid-resistant nephrotic syndrome (SRNS) | Loss of SMPDL3A function disrupts podocyte sphingolipid metabolism, leading to foot process effacement and proteinuria. | ClinVar, OMIM |
| Focal segmental glomerulosclerosis (FSGS) | Reduced SMPDL3A activity impairs podocyte actin cytoskeleton dynamics. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.1 | Low |
| Testis | 5.4 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HepG2 | 9.8 | Moderate expression |
| Podocyte (immortalized) | 18.7 | High expression |
| SH-SY5Y | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | Rare | Likely loss of function; associated with SRNS |
| c.454G>A (p.Gly152Arg) | Missense | Rare | Reduced enzymatic activity; reported in FSGS |
| c.788_789del (p.Gln263Argfs*12) | Frameshift | Very rare | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish sphingomyelinase activity, leading to podocyte injury.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • sphingomyelin phosphodiesterase activity (GO:0004767) | • ceramide biosynthetic process (GO:0046513) |
| • sphingomyelin catabolic process (GO:0006685) | • membrane (GO:0016020) |
| • lysosome (GO:0005764) |
Pathways
• Sphingolipid metabolism (KEGG hsa00600)
• Sphingomyelin metabolism (Reactome R-HSA-1660661)
Protein Summary
SMPDL3A is a 453-amino acid protein with a molecular weight of approximately 52 kDa. It contains a signal peptide and a saposin B-type domain. The protein localizes to lysosomes and plasma membranes. It is highly expressed in kidney podocytes, where it regulates sphingomyelin turnover and actin cytoskeleton organization. Loss of function leads to podocyte dysfunction and proteinuric kidney diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMPDL3A Knockout HEK293 Cell Line | EDJ-KQ6577 | Human | 10924 | Details Get a Quote |
| SMPDL3A Knockout A-549 Cell Line | EDJ-KQ32164 | Human | 10924 | Details Get a Quote |
| SMPDL3A Knockout HCT 116 Cell Line | EDJ-KQ32165 | Human | 10924 | Details Get a Quote |
| SMPDL3A Knockout HeLa Cell Line | EDJ-KQ32166 | Human | 10924 | Details Get a Quote |
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