FAF1: Fas Associated Factor 1 – A Key Regulator of Apoptosis and Proteostasis
Comprehensive genomic and proteomic overview of FAF1, a tumor suppressor and ubiquitin-like protein involved in cell death, NF-κB signaling, and neurodevelopment.
Gene Information Card
| Symbol | FAF1 |
|---|---|
| Full Name | Fas Associated Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 11124 ncbi.nlm.nih.gov/gene/11124 |
| Ensembl ID | ENSG00000185149 |
| UniProt ID | Q9UNN5 |
| OMIM ID | 604460 |
| HGNC ID | 3578 |
| Aliases | FAF1, hFAF1, CGI-03, UBXD3, UBXN3A |
Description
FAF1 (Fas Associated Factor 1) encodes a protein that interacts with the Fas receptor and enhances Fas-induced apoptosis. It also functions as a ubiquitin-like protein involved in proteasomal degradation, negatively regulates NF-κB signaling, and plays roles in cell cycle control, neurodevelopment, and tumor suppression. FAF1 is widely expressed and its dysregulation is implicated in cancer, neurodegenerative disorders, and developmental abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of FAF1 expression reduces apoptosis and enhances NF-κB survival signaling | ClinVar, COSMIC |
| Gastric cancer | FAF1 downregulation correlates with poor prognosis and increased proliferation | NCBI Gene, PubMed |
| Hepatocellular carcinoma | FAF1 promoter methylation silences expression, promoting tumor growth | COSMIC, PubMed |
| Neuroblastoma | FAF1 mutations impair apoptosis and differentiation | ClinVar, OMIM |
| Alzheimer's disease | FAF1 interacts with presenilin-1; altered expression may affect amyloid processing | UniProt, PubMed |
| Developmental delay / intellectual disability | De novo FAF1 variants associated with neurodevelopmental phenotypes | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Lung | 7.8 | Low |
| Colon | 18.4 | High |
| Testis | 22.6 | High |
| Spleen | 9.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | Embryonic kidney; high FAF1 expression |
| HeLa | 11.2 | Cervical carcinoma; moderate expression |
| HCT116 | 19.8 | Colorectal carcinoma; high expression |
| SH-SY5Y | 8.7 | Neuroblastoma; moderate expression |
| MCF7 | 6.5 | Breast carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Impaired Fas binding and apoptosis |
| c.788_789del (p.Leu263fs) | Frameshift | Rare | Loss of function; reduced protein stability |
| c.1A>G (p.Met1?) | Start loss | Very rare | No protein translation |
| c.1432C>T (p.Arg478Cys) | Missense | Rare | Altered ubiquitin-like domain function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that truncate or abolish FAF1 protein, reducing apoptosis and enhancing NF-κB activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in FAF1.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly416Arg) that impair Fas binding may act in a dominant-negative manner by competing with wild-type FAF1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Fas signaling pathway (apoptosis)
• NF-κB signaling pathway
• Ubiquitin-proteasome pathway
• Apoptosis – multiple species
Protein Summary
FAF1 is a 650-amino acid protein containing a ubiquitin-like (UBL) domain and a UBX domain. It binds to Fas (CD95) and enhances caspase-8 activation, promoting apoptosis. FAF1 also interacts with the proteasome and ubiquitin ligases, regulating protein degradation. It inhibits NF-κB by sequestering p65 in the cytoplasm. FAF1 is expressed in many tissues, with highest levels in testis and colon. Its loss contributes to tumorigenesis and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAF1 Knockout HEK293 Cell Line | EDJ-KQ7294 | Human | 11124 | Details Get a Quote |
| NDUFAF1 Knockout HEK293 Cell Line | EDJ-KQ10918 | Human | 51103 | Details Get a Quote |
| FAF1 Knockout A-549 Cell Line | EDJ-KQ32337 | Human | 11124 | Details Get a Quote |
| FAF1 Knockout HCT 116 Cell Line | EDJ-KQ32338 | Human | 11124 | Details Get a Quote |
| FAF1 Knockout HeLa Cell Line | EDJ-KQ32339 | Human | 11124 | Details Get a Quote |
| NDUFAF1 Knockout HeLa Cell Line | EDJ-KQ37368 | Human | 51103 | Details Get a Quote |
| NDUFAF1 Knockout A-549 Cell Line | EDJ-KQ38668 | Human | 51103 | Details Get a Quote |
| NDUFAF1 Knockout HCT 116 Cell Line | EDJ-KQ38669 | Human | 51103 | Details Get a Quote |
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