NSMAF Gene - Neutral Sphingomyelinase Activation Associated Factor
A key regulator of ceramide signaling and TNF-alpha receptor-mediated apoptosis
Gene Information Card
| Symbol | NSMAF |
|---|---|
| Full Name | Neutral Sphingomyelinase Activation Associated Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 8q12.1 |
| NCBI Gene ID | 8439 ncbi.nlm.nih.gov/gene/8439 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q92636 |
| OMIM ID | 603043 |
| HGNC ID | 8010 |
| Aliases | FAN, NSMAF-A, NSMAF-B |
Description
The NSMAF gene encodes the neutral sphingomyelinase activation associated factor (FAN protein), which is an adaptor protein that binds to the intracellular domain of the tumor necrosis factor receptor 1 (TNFR1). It mediates the activation of neutral sphingomyelinase (nSMase), leading to ceramide production and subsequent signaling pathways involved in apoptosis, inflammation, and cell differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Lung | 6.2 | Low |
| Liver | 5.1 | Low |
| Kidney | 7.3 | Medium |
| Testis | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.1 | Cervical carcinoma |
| HEK 293 | 6.8 | Embryonic kidney |
| K562 | 5.4 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in human disease.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ceramide signaling pathway
• TNF-alpha signaling pathway
• Sphingolipid metabolism
Protein Summary
The FAN protein (UniProt Q92636) is a 917-amino acid adaptor protein that contains a WD40 repeat domain and a C-terminal domain. It specifically interacts with the neutral sphingomyelinase activation domain (NSD) of TNFR1. Upon TNF-alpha stimulation, FAN recruits and activates neutral sphingomyelinase, leading to ceramide generation. This ceramide production is critical for downstream signaling including apoptosis, JNK activation, and NF-kappaB pathway modulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NSMAF Knockout HEK293 Cell Line | EDJ-KQ1743 | Human | 8439 | Details Get a Quote |
| NSMAF Knockout HCT 116 Cell Line | EDJ-KQ20254 | Human | 8439 | Details Get a Quote |
| NSMAF Knockout A-549 Cell Line | EDJ-KQ21599 | Human | 8439 | Details Get a Quote |
| NSMAF Knockout HeLa Cell Line | EDJ-KQ21601 | Human | 8439 | Details Get a Quote |
