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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NSMAF
neutral sphingomyelinase activation associated factor
Chromosome 8 · 8q12.1
NCBI Gene: 8439Ensembl: ENSG00000035681.11HGNC: HGNC:8017UniProt: Q92636
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsphingomyelin phosphodiesterase activator activitytumor necrosis factor-mediated signaling pathwaysignal transductionplacental retentionmale infertilitymultiple myelomaAbnormality of the skeletal system
✦AI Summary

NSMAF (neutral sphingomyelinase activation associated factor) is a signaling adapter protein that couples TNF-receptor 1 (TNFR1) to neutral sphingomyelinase (N-SMase), regulating ceramide production in response to TNF-α 1. NSMAF functions as a scaffold protein that facilitates membrane trafficking events, including extracellular vesicle secretion through LC3-dependent autophagy pathways 12. The protein is part of the BEACH domain-containing protein family, which regulates lysosomal size and apoptosis through membrane dynamics 3. Clinically, NSMAF expression is dysregulated in multiple pathological contexts. In rotator cuff tendinopathy, NSMAF is expressed in injured tendons as part of the TNF-α signaling pathway, though expression levels vary substantially between patients 4. Genetic variations in NSMAF significantly influence pulmonary tuberculosis susceptibility in Moroccan populations, with specific SNPs associated with altered disease risk 5. NSMAF is also implicated in aneurysmal subarachnoid hemorrhage pathogenesis, functioning within NF-κB and sphingolipid signaling pathways 6. Additionally, microgravity exposure alters NSMAF expression in human fibroblasts, suggesting involvement in musculoskeletal pathology 7. These findings establish NSMAF as a critical mediator linking TNF signaling to inflammatory and degenerative diseases.

Sources cited
1
NSMAF couples TNFR1 to neutral sphingomyelinase and regulates ceramide production; required for LC3-dependent EV secretion
PMID: 31932738
2
NSMAF/FAN mediates LC3-dependent extracellular vesicle loading and secretion through secretory autophagy
PMID: 32401566
3
NSMAF is a BEACH domain-containing protein affecting lysosome size and apoptosis through membrane scaffolding
PMID: 23521701
4
NSMAF is expressed in injured rotator cuff tendons as part of TNF-α signaling pathway with variable expression levels
PMID: 33683459
5
NSMAF genetic variants (rs1050504) significantly associate with pulmonary tuberculosis susceptibility in Moroccan population
PMID: 29115933
6
NSMAF is identified as a biomarker in aneurysmal subarachnoid hemorrhage within NF-κB and sphingolipid signaling pathways
PMID: 35752978
7
NSMAF expression is altered in human fibroblasts exposed to microgravity, associated with TNF-related gene family changes
PMID: 12039873
Disease Associationsⓘ20
placental retentionOpen Targets
0.37Weak
male infertilityOpen Targets
0.30Weak
multiple myelomaOpen Targets
0.25Weak
Abnormality of the skeletal systemOpen Targets
0.24Weak
skin cancerOpen Targets
0.23Weak
oral mucosa leukoplakiaOpen Targets
0.17Weak
osteoarthritisOpen Targets
0.17Weak
smoking initiationOpen Targets
0.14Weak
risk-taking behaviourOpen Targets
0.13Weak
major depressive disorderOpen Targets
0.12Weak
attention deficit hyperactivity disorderOpen Targets
0.11Weak
substance abuseOpen Targets
0.11Weak
atrial heart septal defectOpen Targets
0.11Weak
smoking behaviorOpen Targets
0.10Suggestive
chronic laryngitisOpen Targets
0.08Suggestive
melanomaOpen Targets
0.07Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
immunodeficiency 66Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TNFProtein interaction100%TNFRSF1AProtein interaction99%SMPD2Protein interaction99%RACK1Protein interaction72%TNFRSF17Shared pathway50%TXNDC17Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Heart
88%
Ovary
81%
Bone Marrow
52%
Brain
50%
Liver
33%
Gene Interaction Network
Click a node to explore
NSMAFTNFTNFRSF1ASMPD2RACK1TNFRSF17TXNDC17
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q92636
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.51–0.79]
RankingsWhere NSMAF stands among ~20K protein-coding genes
  • #12,624of 20,598
    Most Researched27
  • #6,473of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedNSMAF
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The LC3-conjugation machinery specifies the loading of RNA-binding proteins into extracellular vesicles.
PMID: 31932738
Nat Cell Biol · 2020
1.00
2
Selected Clinical Features Fail to Predict Inflammatory Gene Expressions for TNF-α, TNFR1, NSMAF, Casp3 and IL-8 in Tendons of Patients with Rotator Cuff Tendinopathy.
PMID: 33683459
Arch Immunol Ther Exp (Warsz) · 2021
0.90
3
Secretory autophagy-induced bladder tumour-derived extracellular vesicle secretion promotes angiogenesis by activating the TPX2-mediated phosphorylation of the AURKA-PI3K-AKT axis.
PMID: 34597712
Cancer Lett · 2021
0.80
4
Screening for Immune-Related RNA Biomarkers of Aneurysmal Subarachnoid Hemorrhage.
PMID: 35752978
Clin Invest Med · 2022
0.70
5
Alterations in TNF- and IL-related gene expression in space-flown WI38 human fibroblasts.
PMID: 12039873
FASEB J · 2002
0.60